Variant report

Variant	nsv612985
Chromosome Location	chr9:112542-358932
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2837)
CpG islands
(count:1404)
Chromatin interactive
region (count:135)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2837 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:250210-251866	K562	blood:	n/a	n/a
2	ARID3A	chr9:210220-210873	K562	blood:	n/a	n/a
3	ARID3A	chr9:229136-229466	K562	blood:	n/a	n/a
4	ARID3A	chr9:237608-238477	K562	blood:	n/a	n/a
5	ARID3A	chr9:267916-268404	K562	blood:	n/a	n/a
6	ARID3A	chr9:272758-273406	K562	blood:	n/a	chr9:273064-273079
7	ARID3A	chr9:336046-336405	HepG2	liver:	n/a	n/a
8	ARID3A	chr9:272095-272522	K562	blood:	n/a	n/a
9	ARID3A	chr9:260270-260544	K562	blood:	n/a	n/a
10	ARID3A	chr9:215966-216247	K562	blood:	n/a	n/a
11	ARID3A	chr9:238911-239096	K562	blood:	n/a	n/a
12	ARID3A	chr9:214214-215154	K562	blood:	n/a	n/a
13	ATF1	chr9:270753-271026	K562	blood:	n/a	n/a
14	ATF1	chr9:249153-249485	K562	blood:	n/a	n/a
15	ATF1	chr9:211078-211816	K562	blood:	n/a	n/a
16	ATF1	chr9:222266-222777	K562	blood:	n/a	n/a
17	ATF1	chr9:272781-273161	K562	blood:	n/a	n/a
18	ATF1	chr9:272150-272512	K562	blood:	n/a	n/a
19	ATF1	chr9:312958-313372	K562	blood:	n/a	n/a
20	ATF2	chr9:297286-297859	GM12878	blood:	n/a	n/a
21	ATF2	chr9:272650-273286	GM12878	blood:	n/a	n/a
22	ATF2	chr9:272677-273240	GM12878	blood:	n/a	n/a
23	ATF3	chr9:326568-327022	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF3	chr9:210212-210461	K562	blood:	n/a	n/a
25	ATF3	chr9:272081-272576	K562	blood:	n/a	n/a
26	BACH1	chr9:113631-113796	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr9:114203-114262	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr9:207498-207603	K562	blood:	n/a	n/a
29	BACH1	chr9:214677-214706	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr9:214910-215270	H1-hESC	embryonic stem cell:	n/a	n/a
31	BATF	chr9:183636-184093	GM12878	blood:	n/a	n/a
32	BATF	chr9:178394-179363	GM12878	blood:	n/a	chr9:179069-179082
33	BATF	chr9:156921-157465	GM12878	blood:	n/a	n/a
34	BATF	chr9:183522-184128	GM12878	blood:	n/a	n/a
35	BATF	chr9:122820-123095	GM12878	blood:	n/a	n/a
36	BATF	chr9:297420-297885	GM12878	blood:	n/a	chr9:297684-297695 chr9:297685-297695
37	BATF	chr9:178645-179348	GM12878	blood:	n/a	chr9:179069-179082
38	BATF	chr9:178082-178323	GM12878	blood:	n/a	n/a
39	BATF	chr9:152906-153110	GM12878	blood:	n/a	chr9:152982-152993
40	BATF	chr9:178036-178376	GM12878	blood:	n/a	n/a
41	BATF	chr9:184216-185020	GM12878	blood:	n/a	chr9:184501-184509
42	BATF	chr9:185826-186168	GM12878	blood:	n/a	n/a
43	BATF	chr9:297422-297902	GM12878	blood:	n/a	chr9:297684-297695 chr9:297685-297695
44	BATF	chr9:167629-168111	GM12878	blood:	n/a	n/a
45	BATF	chr9:199639-200066	GM12878	blood:	n/a	n/a
46	BATF	chr9:198812-199262	GM12878	blood:	n/a	chr9:198886-198895
47	BATF	chr9:156608-156841	GM12878	blood:	n/a	n/a
48	BATF	chr9:194727-194900	GM12878	blood:	n/a	n/a
49	BATF	chr9:200387-200708	GM12878	blood:	n/a	chr9:200519-200530
50	BATF	chr9:156926-157447	GM12878	blood:	n/a	n/a

(count:1404 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:215561-215611	NB4	blood:	n/a
2	chr9:215561-215611	NB4	blood:	n/a
3	chr9:215368-215418	NH-A	brain:	n/a
4	chr9:114434-114484	BJ	skin:	n/a
5	chr9:214690-214740	HIPEpiC	eye:	n/a
6	chr9:176893-176943	HIPEpiC	eye:	n/a
7	chr9:112618-112668	Hela-S3	cervix:	n/a
8	chr9:117608-117658	AoSMC	blood vessel:	n/a
9	chr9:215561-215611	IMR90	lung:	fetal
10	chr9:168828-168878	Hepatocyte	liver:	n/a
11	chr9:214268-214318	GM19239	blood:	n/a
12	chr9:215561-215611	HEK293	kidney:	embryo
13	chr9:273072-273122	CMK	blood:	n/a
14	chr9:214612-214662	HCF	heart:	n/a
15	chr9:113530-113580	HCM	heart:	n/a
16	chr9:215368-215418	Hela-S3	cervix:	n/a
17	chr9:112618-112668	SK-N-SH	brain:	n/a
18	chr9:213650-213700	U87	brain:	n/a
19	chr9:214690-214740	Caco-2	colon:	n/a
20	chr9:114140-114190	HUVEC	blood vessel:	n/a
21	chr9:112937-112987	AG10803	skin:	n/a
22	chr9:214612-214662	AG10803	skin:	n/a
23	chr9:113530-113580	RPTEC	kidney:	n/a
24	chr9:114434-114484	SK-N-SH	brain:	n/a
25	chr9:118091-118141	HAEpiC	amniotic membrane:	n/a
26	chr9:118698-118748	HCF	heart:	n/a
27	chr9:113530-113580	AG04450	lung:	fetal
28	chr9:179409-179459	RPTEC	kidney:	n/a
29	chr9:168828-168878	HEEpiC	esophagus:	n/a
30	chr9:214268-214318	PFSK-1	brain:	n/a
31	chr9:114838-114888	PANC-1	pancreas:	n/a
32	chr9:215368-215418	PFSK-1	brain:	n/a
33	chr9:114434-114484	HCF	heart:	n/a
34	chr9:168828-168878	T-47D	breast:	n/a
35	chr9:114140-114190	HEEpiC	esophagus:	n/a
36	chr9:213650-213700	HL-60	blood:	n/a
37	chr9:114359-114409	HRPEpiC	eye:	n/a
38	chr9:118698-118748	Hepatocyte	liver:	n/a
39	chr9:214690-214740	HUVEC	blood vessel:	n/a
40	chr9:112618-112668	CMK	blood:	n/a
41	chr9:118091-118141	HCM	heart:	n/a
42	chr9:179409-179459	AG04449	skin:	fetal
43	chr9:112618-112668	AG09309	skin:	n/a
44	chr9:214690-214740	U87	brain:	n/a
45	chr9:179409-179459	U87	brain:	n/a
46	chr9:211689-211739	HUVEC	blood vessel:	n/a
47	chr9:117044-117094	SK-N-SH	brain:	n/a
48	chr9:112937-112987	Hepatocyte	liver:	n/a
49	chr9:117608-117658	K562	blood:	n/a
50	chr9:114434-114484	NHBE	bronchial:	n/a

(count:135 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr9:286841..289218-chr9:291668..294143,2	K562	blood:
2	chr9:239328..240900-chr9:247584..249872,2	K562	blood:
3	chr20:61557637..61559255-chr9:214332..216174,2	MCF-7	breast:
4	chr9:214044..216353-chr9:222371..224502,2	MCF-7	breast:
5	chr9:285389..289218-chr9:290727..294143,4	K562	blood:
6	chr9:239328..240900-chr9:247584..249872,2	K562	blood:
7	chr9:286841..289218-chr9:291668..294143,2	K562	blood:
8	chr9:255761..258409-chr9:263285..266102,2	K562	blood:
9	chr9:347437..348401-chr9:378296..379161,3	MCF-7	breast:
10	chr9:284961..287002-chr9:306876..309185,2	K562	blood:
11	chr9:207956..209819-chr9:211466..213662,2	MCF-7	breast:
12	chr9:244363..245872-chr9:248878..250809,2	K562	blood:
13	chr9:214682..216322-chr9:293864..296795,2	MCF-7	breast:
14	chr9:246731..252463-chr9:270869..275661,7	K562	blood:
15	chr9:324085..328451-chr9:329787..332698,3	K562	blood:
16	chr9:326951..329483-chr9:330404..332162,2	K562	blood:
17	chr9:218197..221460-chr9:224650..228237,4	K562	blood:
18	chr9:276314..278461-chr9:285139..287718,2	K562	blood:
19	chr9:240408..242135-chr9:247395..249007,2	MCF-7	breast:
20	chr9:223853..225771-chr9:261619..263535,2	K562	blood:
21	chr9:277861..283096-chr9:291676..296273,5	K562	blood:
22	chr9:288365..290115-chr9:299185..301598,2	MCF-7	breast:
23	chr9:347797..348410-chr9:459774..460369,2	MCF-7	breast:
24	chr9:213589..216422-chr9:270983..274599,7	K562	blood:
25	chr9:211063..213249-chr9:216572..219831,3	K562	blood:
26	chr9:247322..249745-chr9:277912..279940,2	K562	blood:
27	chr9:216842..219174-chr9:220888..224256,4	K562	blood:
28	chr9:213589..216422-chr9:270983..274599,7	K562	blood:
29	chr9:326951..329483-chr9:330404..332162,2	K562	blood:
30	chr9:318530..320927-chr9:322721..325349,2	K562	blood:
31	chr9:285389..289218-chr9:290727..294143,4	K562	blood:
32	chr9:212741..215221-chr9:238241..240048,2	MCF-7	breast:
33	chr9:243324..246093-chr9:246428..250809,6	K562	blood:
34	chr9:207715..211592-chr9:270281..275557,5	K562	blood:
35	chr9:276287..280123-chr9:282139..284880,4	K562	blood:
36	chr9:237104..239333-chr9:240417..242425,2	K562	blood:
37	chr9:237820..240828-chr9:247584..251042,3	K562	blood:
38	chr9:250806..252981-chr9:269858..272236,2	MCF-7	breast:
39	chr9:209849..211411-chr9:213516..215617,2	MCF-7	breast:
40	chr9:226722..229215-chr9:247840..250679,2	K562	blood:
41	chr9:213603..216956-chr9:218226..220394,3	K562	blood:
42	chr9:275975..278627-chr9:279451..282123,3	K562	blood:
43	chr9:227507..229537-chr9:238867..240547,2	K562	blood:
44	chr9:258428..261727-chr9:265742..268870,3	K562	blood:
45	chr9:214996..215595-chr9:307020..307600,2	MCF-7	breast:
46	chr9:268983..271562-chr9:284279..286719,2	MCF-7	breast:
47	chr9:262046..270232-chr9:270847..276392,11	K562	blood:
48	chr9:237104..239333-chr9:240417..242425,2	K562	blood:
49	chr9:303334..306488-chr9:313112..315414,3	MCF-7	breast:
50	chr9:261493..264345-chr9:269680..272564,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FOXD4-5	chr9:154709-154795	NONHSAT129910
2	lnc-FOXD4-5	chr9:151745-152078	NONHSAT129910
3	lnc-C9orf66-1	chr9:272905-273002	ENSG00000235880.1
4	lnc-C9orf66-1	chr9:267966-268273	ENSG00000235880.1
5	lnc-FOXD4-3	chr9:114040-115772	NONHSAT129899
6	lnc-FOXD4-1	chr9:112716-113067	ENSG00000231808
7	lnc-FOXD4-3	chr9:113606-113656	NONHSAT129899
8	lnc-FOXD4-5	chr9:161567-161647	NONHSAT129910
9	lnc-FOXD4-5	chr9:156481-156527	NONHSAT129910
10	lnc-FOXD4-1	chr9:113694-113754	ENSG00000231808

No data

Variant related genes	Relation type
DOCK8	TF binding region
ENSG00000231808	TF binding region
CBWD1	TF binding region
FOXD4	TF binding region
ENSG00000235880	TF binding region
C9orf66	TF binding region
DOCK8	CpG island
ENSG00000231808	CpG island
CBWD1	CpG island
FOXD4	CpG island
ENSG00000235880	CpG island
C9orf66	CpG island
ENSG00000107099	chromatin interactions
ENSG00000183784	chromatin interactions
ENSG00000235880	chromatin interactions
ENSG00000227155	chromatin interactions
ENSG00000101191	chromatin interactions

Extended variants
information (count: 11303 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:11303 , 50 per page) page: 1 2 3 4 5 6 7 ... 227

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375155525	chr9:112731-112732	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs71416528	chr9:112752-112753	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs11791868	chr9:112759-112760	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568743862	chr9:112782-112783	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs536072264	chr9:112792-112793	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs557550316	chr9:112797-112798	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs143673782	chr9:112832-112833	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
8	rs11789558	chr9:112840-112841	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs558171911	chr9:112849-112850	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
10	rs573138903	chr9:112852-112853	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
11	rs2441568	chr9:112862-112863	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
12	rs201516188	chr9:112878-112879	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
13	rs7864555	chr9:112882-112883	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
14	rs2492206	chr9:112899-112900	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
15	rs555261788	chr9:112910-112911	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
16	rs150714334	chr9:112946-112947	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
17	rs2441569	chr9:112950-112951	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
18	rs544008002	chr9:112959-112960	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
19	rs76290395	chr9:112976-112977	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
20	rs562343079	chr9:112995-112996	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
21	rs190374403	chr9:113052-113053	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
22	rs149482519	chr9:113107-113108	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs143974123	chr9:113110-113111	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs527311095	chr9:113115-113116	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs73638075	chr9:113123-113124	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs374294587	chr9:113126-113127	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs73638076	chr9:113128-113129	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs548966124	chr9:113136-113137	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs62533579	chr9:113163-113164	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs146854021	chr9:113165-113166	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs551242773	chr9:113279-113280	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs12344823	chr9:113325-113326	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs2492207	chr9:113345-113346	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs539956204	chr9:113363-113364	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs2811140	chr9:113366-113367	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs551561062	chr9:113393-113394	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs566927029	chr9:113394-113395	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs34626192	chr9:113415-113416	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs181475976	chr9:113418-113419	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs2441571	chr9:113446-113447	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs2260837	chr9:113449-113450	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs370805185	chr9:113456-113457	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs573599276	chr9:113467-113468	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs537742930	chr9:113471-113472	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs11792402	chr9:113474-113475	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs2811141	chr9:113491-113492	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs2757987	chr9:113520-113521	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs1309114	chr9:113553-113554	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs150217453	chr9:113591-113592	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs577742853	chr9:113596-113597	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	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
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	21364760	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD

Chromatin state (count:3026 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:112800-113000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
2	chr9:112800-113000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
3	chr9:112800-113000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
4	chr9:112800-113000	Bivalent Enhancer	Brain Hippocampus Middle	brain
5	chr9:112800-113000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
6	chr9:112800-113000	Bivalent Enhancer	K562	blood
7	chr9:112800-113200	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr9:112800-113400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
9	chr9:112800-113400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
10	chr9:112800-113400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
11	chr9:112800-113400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
12	chr9:112800-113400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr9:112800-113400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:112800-113400	Bivalent Enhancer	Adipose Nuclei	Adipose
15	chr9:112800-113400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
16	chr9:112800-113400	Bivalent/Poised TSS	Right Ventricle	heart
17	chr9:112800-113400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
18	chr9:112800-113600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
19	chr9:112800-113600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr9:112800-113800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr9:112800-113800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr9:112800-114000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr9:112800-115200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr9:112800-115400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
25	chr9:113000-113200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:113000-113200	Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr9:113000-113200	Bivalent Enhancer	Fetal Intestine Large	intestine
28	chr9:113000-113400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:113000-113400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
30	chr9:113000-113400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr9:113000-113400	Bivalent Enhancer	Brain Germinal Matrix	brain
32	chr9:113000-113800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr9:113000-113800	Bivalent Enhancer	Placenta	Placenta
34	chr9:113000-114400	Active TSS	K562	blood
35	chr9:113000-115200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
36	chr9:113200-113400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr9:113200-113400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr9:113200-113400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr9:113200-113400	Bivalent Enhancer	Colonic Mucosa	Colon
40	chr9:113200-113600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
41	chr9:113200-113600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr9:113200-113600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr9:113200-113800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
44	chr9:113200-114400	Bivalent/Poised TSS	Psoas Muscle	Psoas
45	chr9:113200-114600	Bivalent/Poised TSS	Left Ventricle	heart
46	chr9:113400-113600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
47	chr9:113400-113600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr9:113400-113600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr9:113400-113600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr9:113400-113600	Enhancers	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links