Variant report

Variant	nsv539841
Chromosome Location	chr9:214166-459216
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2511)
CpG islands
(count:428)
Chromatin interactive
region (count:156)
LncRNA
region (count:30)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2511 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:272758-273406	K562	blood:	n/a	chr9:273064-273079
2	ARID3A	chr9:260270-260544	K562	blood:	n/a	n/a
3	ARID3A	chr9:214214-215154	K562	blood:	n/a	n/a
4	ARID3A	chr9:250210-251866	K562	blood:	n/a	n/a
5	ARID3A	chr9:237608-238477	K562	blood:	n/a	n/a
6	ARID3A	chr9:238911-239096	K562	blood:	n/a	n/a
7	ARID3A	chr9:229136-229466	K562	blood:	n/a	n/a
8	ARID3A	chr9:371491-371553	K562	blood:	n/a	n/a
9	ARID3A	chr9:215966-216247	K562	blood:	n/a	n/a
10	ARID3A	chr9:272095-272522	K562	blood:	n/a	n/a
11	ARID3A	chr9:336046-336405	HepG2	liver:	n/a	n/a
12	ARID3A	chr9:267916-268404	K562	blood:	n/a	n/a
13	ATF1	chr9:272781-273161	K562	blood:	n/a	n/a
14	ATF1	chr9:249153-249485	K562	blood:	n/a	n/a
15	ATF1	chr9:312958-313372	K562	blood:	n/a	n/a
16	ATF1	chr9:222266-222777	K562	blood:	n/a	n/a
17	ATF1	chr9:270753-271026	K562	blood:	n/a	n/a
18	ATF1	chr9:272150-272512	K562	blood:	n/a	n/a
19	ATF1	chr9:428430-428702	K562	blood:	n/a	n/a
20	ATF2	chr9:272677-273240	GM12878	blood:	n/a	n/a
21	ATF2	chr9:297286-297859	GM12878	blood:	n/a	n/a
22	ATF2	chr9:272650-273286	GM12878	blood:	n/a	n/a
23	ATF3	chr9:272081-272576	K562	blood:	n/a	n/a
24	ATF3	chr9:326568-327022	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr9:214910-215270	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr9:450112-450344	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr9:214677-214706	H1-hESC	embryonic stem cell:	n/a	n/a
28	BATF	chr9:297422-297902	GM12878	blood:	n/a	chr9:297684-297695 chr9:297685-297695
29	BATF	chr9:278668-278987	GM12878	blood:	n/a	n/a
30	BATF	chr9:297420-297885	GM12878	blood:	n/a	chr9:297684-297695 chr9:297685-297695
31	BCL11A	chr9:331212-331567	H1-hESC	embryonic stem cell:	n/a	n/a
32	BCLAF1	chr9:297419-297950	GM12878	blood:	n/a	chr9:297687-297696 chr9:297688-297697
33	BCLAF1	chr9:307023-307293	GM12878	blood:	n/a	n/a
34	BCLAF1	chr9:272677-273191	GM12878	blood:	n/a	chr9:272862-272871
35	BCLAF1	chr9:214465-215559	GM12878	blood:	n/a	n/a
36	BCLAF1	chr9:297343-297922	GM12878	blood:	n/a	chr9:297687-297696 chr9:297688-297697
37	BCLAF1	chr9:272658-273387	GM12878	blood:	n/a	chr9:272862-272871
38	BHLHE40	chr9:215354-215372	GM12878	blood:	n/a	n/a
39	BHLHE40	chr9:214106-214306	K562	blood:	n/a	n/a
40	BHLHE40	chr9:439327-439591	HepG2	liver:	n/a	n/a
41	BHLHE40	chr9:214569-215152	GM12878	blood:	n/a	n/a
42	BHLHE40	chr9:214709-215301	HepG2	liver:	n/a	n/a
43	BHLHE40	chr9:237901-238275	K562	blood:	n/a	chr9:238023-238044
44	BHLHE40	chr9:218973-219054	K562	blood:	n/a	n/a
45	BHLHE40	chr9:272179-272510	K562	blood:	n/a	n/a
46	BHLHE40	chr9:214650-215428	K562	blood:	n/a	n/a
47	BHLHE40	chr9:297517-297717	K562	blood:	n/a	n/a
48	BHLHE40	chr9:259627-260475	K562	blood:	n/a	n/a
49	BHLHE40	chr9:270725-270976	GM12878	blood:	n/a	n/a
50	CBX3	chr9:229096-229480	K562	blood:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:215368-215418	PANC-1	pancreas:	n/a
2	chr9:215368-215418	PANC-1	pancreas:	n/a
3	chr9:214690-214740	GM12891	blood:	n/a
4	chr9:214612-214662	ovcar-3	ovarian:	n/a
5	chr9:215368-215418	GM12892	blood:	n/a
6	chr9:214268-214318	BE2_C	brain:	n/a
7	chr9:273072-273122	GM12892	blood:	n/a
8	chr9:215368-215418	GM19239	blood:	n/a
9	chr9:273072-273122	HUVEC	blood vessel:	n/a
10	chr9:214690-214740	ECC-1	luminal epithelium:	n/a
11	chr9:214612-214662	LNCaP	prostate:	n/a
12	chr9:214268-214318	AG09309	skin:	n/a
13	chr9:214690-214740	Jurkat	blood:	n/a
14	chr9:273072-273122	ECC-1	luminal epithelium:	n/a
15	chr9:214268-214318	IMR90	lung:	fetal
16	chr9:214612-214662	PANC-1	pancreas:	n/a
17	chr9:214268-214318	Hepatocyte	liver:	n/a
18	chr9:214690-214740	AG10803	skin:	n/a
19	chr9:214268-214318	HCF	heart:	n/a
20	chr9:273072-273122	NH-A	brain:	n/a
21	chr9:214268-214318	HCPEpiC	choroid plexus:	n/a
22	chr9:214690-214740	PFSK-1	brain:	n/a
23	chr9:215561-215611	AG10803	skin:	n/a
24	chr9:214268-214318	NB4	blood:	n/a
25	chr9:426894-426944	SK-N-MC	brain:	n/a
26	chr9:215368-215418	HCF	heart:	n/a
27	chr9:215368-215418	HPAEpiC	pulmonary alveolar:	n/a
28	chr9:215368-215418	SK-N-MC	brain:	n/a
29	chr9:214690-214740	Caco-2	colon:	n/a
30	chr9:214690-214740	HCT-116	colon:	n/a
31	chr9:273072-273122	IMR90	lung:	fetal
32	chr9:273072-273122	HCM	heart:	n/a
33	chr9:426894-426944	HCT-116	colon:	n/a
34	chr9:273072-273122	PFSK-1	brain:	n/a
35	chr9:214612-214662	HL-60	blood:	n/a
36	chr9:273072-273122	GM12878	blood:	n/a
37	chr9:215368-215418	HRPEpiC	eye:	n/a
38	chr9:273072-273122	HMEC	breast:	n/a
39	chr9:215561-215611	HL-60	blood:	n/a
40	chr9:215561-215611	IMR90	lung:	fetal
41	chr9:273072-273122	AG09319	gingival:	n/a
42	chr9:214268-214318	HRPEpiC	eye:	n/a
43	chr9:215561-215611	H1-hESC	embryonic stem cell:	embryo
44	chr9:215368-215418	HAEpiC	amniotic membrane:	n/a
45	chr9:214690-214740	CMK	blood:	n/a
46	chr9:214612-214662	NT2-D1	testis:	n/a
47	chr9:215368-215418	HIPEpiC	eye:	n/a
48	chr9:426894-426944	NHBE	bronchial:	n/a
49	chr9:273072-273122	NT2-D1	testis:	n/a
50	chr9:214690-214740	H1-hESC	embryonic stem cell:	embryo

(count:156 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr9:223210..226112-chr9:277917..282090,3	K562	blood:
2	chr9:347437..348401-chr9:378296..379161,3	MCF-7	breast:
3	chr9:285389..289218-chr9:290727..294143,4	K562	blood:
4	chr9:217275..219531-chr9:301975..303827,2	MCF-7	breast:
5	chr9:211395..217021-chr9:276782..283147,8	K562	blood:
6	chr9:396487..398165-chr9:401103..402938,2	K562	blood:
7	chr9:213589..216422-chr9:270983..274599,7	K562	blood:
8	chr9:283346..286966-chr9:287946..290894,7	K562	blood:
9	chr9:324085..328451-chr9:329787..332698,3	K562	blood:
10	chr9:396487..398165-chr9:401103..402938,2	K562	blood:
11	chr9:237104..239333-chr9:240417..242425,2	K562	blood:
12	chr9:284961..287002-chr9:306876..309185,2	K562	blood:
13	chr9:268983..271562-chr9:284279..286719,2	MCF-7	breast:
14	chr9:288365..290115-chr9:299185..301598,2	MCF-7	breast:
15	chr9:255761..258409-chr9:263285..266102,2	K562	blood:
16	chr9:212468..215901-chr9:260350..263868,4	K562	blood:
17	chr9:258428..261727-chr9:265742..268870,3	K562	blood:
18	chr9:212545..218648-chr9:270340..281940,20	K562	blood:
19	chr9:250806..252981-chr9:269858..272236,2	MCF-7	breast:
20	chr20:61557637..61559255-chr9:214332..216174,2	MCF-7	breast:
21	chr9:268889..271022-chr9:277493..279614,2	K562	blood:
22	chr9:283346..286966-chr9:287946..290894,7	K562	blood:
23	chr1:27191066..27191830-chr9:408050..409042,2	NB4	blood:
24	chr9:213603..216956-chr9:218226..220394,3	K562	blood:
25	chr9:247322..249745-chr9:277912..279940,2	K562	blood:
26	chr9:216842..219174-chr9:220888..224256,4	K562	blood:
27	chr9:246962..249799-chr9:250077..252857,2	K562	blood:
28	chr9:224695..226653-chr9:227779..229816,2	K562	blood:
29	chr9:316274..318543-chr9:331270..334145,2	MCF-7	breast:
30	chr9:347437..348401-chr9:378296..379161,3	MCF-7	breast:
31	chr9:288365..290115-chr9:299185..301598,2	MCF-7	breast:
32	chr9:347287..349476-chr9:362112..363970,2	MCF-7	breast:
33	chr9:347477..348464-chr9:378346..378946,4	MCF-7	breast:
34	chr9:261493..264345-chr9:269680..272564,2	MCF-7	breast:
35	chr9:224695..226653-chr9:227779..229816,2	K562	blood:
36	chr9:350965..353575-chr9:397923..399924,2	K562	blood:
37	chr9:347951..349550-chr9:363997..366575,2	MCF-7	breast:
38	chr9:226722..229215-chr9:247840..250679,2	K562	blood:
39	chr9:347477..348464-chr9:378346..378946,4	MCF-7	breast:
40	chr9:452598..454624-chr9:456757..459664,2	MCF-7	breast:
41	chr9:275975..278627-chr9:279451..282123,3	K562	blood:
42	chr9:276287..280123-chr9:282139..284880,4	K562	blood:
43	chr9:213518..215162-chr9:305580..308186,2	K562	blood:
44	chr9:318530..320927-chr9:322721..325349,2	K562	blood:
45	chr9:223853..225771-chr9:261619..263535,2	K562	blood:
46	chr9:285389..289218-chr9:290727..294143,4	K562	blood:
47	chr9:213452..215018-chr9:305580..307976,2	K562	blood:
48	chr9:326951..329483-chr9:330404..332162,2	K562	blood:
49	chr9:214285..216173-chr9:227690..229444,2	K562	blood:
50	chr9:288330..291260-chr9:302503..304653,3	K562	blood:

(count:30 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf66-2	chr9:454585-454606	ENSG00000227155.3
2	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
3	lnc-C9orf66-2	chr9:454576-454606	ENSG00000227155.3
4	lnc-C9orf66-2	chr9:456530-456703	ENSG00000227155.3
5	lnc-C9orf66-2	chr9:454304-454606	ENSG00000227155.3
6	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
7	lnc-C9orf66-2	chr9:454447-454606	ENSG00000227155.3
8	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
9	lnc-C9orf66-2	chr9:456201-456988	ENSG00000227155.3
10	lnc-C9orf66-2	chr9:454432-454606	ENSG00000227155.3
11	lnc-C9orf66-1	chr9:272905-273002	ENSG00000235880.1
12	lnc-C9orf66-2	chr9:456201-456358	ENSG00000227155.1
13	lnc-C9orf66-2	chr9:456521-456703	ENSG00000227155.3
14	lnc-C9orf66-1	chr9:267966-268273	ENSG00000235880.1
15	lnc-C9orf66-2	chr9:458370-458423	ENSG00000227155.3
16	lnc-C9orf66-2	chr9:456518-456703	ENSG00000227155.3
17	lnc-C9orf66-2	chr9:456204-456703	ENSG00000227155.3
18	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
19	lnc-C9orf66-2	chr9:458117-458281	ENSG00000227155.3
20	lnc-C9orf66-2	chr9:454457-454606	ENSG00000227155.3
21	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
22	lnc-C9orf66-2	chr9:454304-454606	ENSG00000227155.1
23	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
24	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
25	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3
26	lnc-C9orf66-2	chr9:456211-456703	ENSG00000227155.3
27	lnc-C9orf66-2	chr9:456545-456703	ENSG00000227155.3
28	lnc-C9orf66-2	chr9:456915-457047	ENSG00000227155.3
29	lnc-C9orf66-2	chr9:457004-457047	ENSG00000227155.3
30	lnc-C9orf66-2	chr9:456201-456703	ENSG00000227155.3

No data

Variant related genes	Relation type
DOCK8	TF binding region
ENSG00000235880	TF binding region
ENSG00000227155	TF binding region
C9orf66	TF binding region
DOCK8	CpG island
ENSG00000235880	CpG island
ENSG00000227155	CpG island
C9orf66	CpG island
ENSG00000235880	chromatin interactions
ENSG00000183784	chromatin interactions
ENSG00000101191	chromatin interactions
ENSG00000107099	chromatin interactions
ENSG00000227155	chromatin interactions
ENSG00000226403	chromatin interactions

Extended variants
information (count: 13541 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:13541 , 50 per page) page: 1 2 3 4 5 6 7 ... 271

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562125107	chr9:214170-214171	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs116662320	chr9:214181-214182	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs541161232	chr9:214201-214202	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs75513081	chr9:214218-214219	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs552853394	chr9:214239-214240	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs74536546	chr9:214299-214300	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs528691506	chr9:214326-214327	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs188411945	chr9:214402-214403	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs180775811	chr9:214411-214412	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs560937228	chr9:214415-214416	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs535929334	chr9:214427-214428	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs551027818	chr9:214435-214436	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs75872323	chr9:214444-214445	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs533654119	chr9:214454-214455	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs573014387	chr9:214466-214467	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs373633428	chr9:214472-214473	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs534035330	chr9:214476-214477	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs555141191	chr9:214481-214482	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs186595330	chr9:214492-214493	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs533178441	chr9:214494-214495	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs371678578	chr9:214509-214510	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs145642597	chr9:214517-214518	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs562213403	chr9:214518-214519	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs11792809	chr9:214534-214535	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs577567776	chr9:214535-214536	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs202148697	chr9:214556-214557	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs551269891	chr9:214562-214563	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs116104753	chr9:214593-214594	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs142872435	chr9:214596-214597	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs144305173	chr9:214597-214598	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs148345292	chr9:214598-214599	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs141547371	chr9:214606-214607	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs547242681	chr9:214607-214608	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs150902456	chr9:214608-214609	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs376519566	chr9:214649-214650	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs369454345	chr9:214657-214658	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs372833026	chr9:214666-214667	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs377189483	chr9:214672-214673	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs369836093	chr9:214677-214678	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs117856897	chr9:214679-214680	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs529474381	chr9:214687-214688	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs540473	chr9:214706-214707	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs376420186	chr9:214712-214713	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs115610637	chr9:214719-214720	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs368323470	chr9:214729-214730	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs200440314	chr9:214741-214742	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs549052303	chr9:214748-214749	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs532896705	chr9:214757-214758	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs369475517	chr9:214779-214780	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs533817104	chr9:214795-214796	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Schizophrenia	20967226	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Myelodysplastic syndrome	21251322	CNVD
Primary immunodeficiency	22942019	CNVD
Melanoma	20877625	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	21215367	CNVD
Renal cell carcinoma	21215367	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:3333 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:211000-214600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr9:212000-214400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:213000-215200	Active TSS	Brain Substantia Nigra	brain
4	chr9:213200-214400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr9:213400-214600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:213600-214200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr9:213600-214200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:213600-214400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr9:213600-214400	Enhancers	Pancreas	Pancrea
10	chr9:213600-214600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr9:213600-215600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:213800-215800	Active TSS	K562	blood
13	chr9:214000-214200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr9:214000-214200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr9:214000-214200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:214000-214200	Enhancers	Adipose Nuclei	Adipose
17	chr9:214000-214200	Active TSS	Placenta	Placenta
18	chr9:214000-214200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
19	chr9:214000-214400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr9:214000-214400	Bivalent Enhancer	Fetal Intestine Large	intestine
21	chr9:214000-214400	Active TSS	Fetal Intestine Small	intestine
22	chr9:214000-214400	Enhancers	Lung	lung
23	chr9:214000-214400	Enhancers	Spleen	Spleen
24	chr9:214000-214600	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr9:214000-214800	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr9:214000-215200	Active TSS	Primary hematopoietic stem cells	blood
27	chr9:214000-215400	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr9:214000-215600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr9:214000-215600	Bivalent/Poised TSS	Fetal Brain Female	brain
30	chr9:214200-214400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
31	chr9:214200-214400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr9:214200-214400	Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr9:214200-214400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr9:214200-214400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr9:214200-214400	Flanking Active TSS	Placenta	Placenta
36	chr9:214200-214600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr9:214200-214600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr9:214200-214600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr9:214200-214600	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr9:214200-214800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr9:214200-214800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr9:214200-214800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr9:214200-214800	Active TSS	Colonic Mucosa	Colon
44	chr9:214200-214800	Active TSS	Duodenum Mucosa	Duodenum
45	chr9:214200-215400	Active TSS	Primary T cells from cord blood	blood
46	chr9:214200-215400	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr9:214200-215400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr9:214200-215400	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr9:214200-215400	Active TSS	Brain Anterior Caudate	brain
50	chr9:214200-215400	Active TSS	Stomach Mucosa	stomach

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