Variant report

Variant	nsv435879
Chromosome Location	chr9:71736168-71743663
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:489)
CpG islands
(count:367)
Chromatin interactive
region (count:22)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr9:71737258-71738069	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr9:71737566-71738148	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr9:71737585-71738101	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCLAF1	chr9:71736571-71737127	GM12878	blood:	n/a	n/a
5	BHLHE40	chr9:71737647-71738054	HepG2	liver:	n/a	n/a
6	BRCA1	chr9:71736246-71736410	Hela-S3	cervix:	n/a	n/a
7	BRCA1	chr9:71736719-71737059	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr9:71735584-71736233	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr9:71737217-71738032	Hela-S3	cervix:	n/a	n/a
10	CHD1	chr9:71736356-71738055	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr9:71735590-71737998	Hela-S3	cervix:	n/a	chr9:71735872-71735882 chr9:71735875-71735885
12	CHD2	chr9:71736643-71737207	GM12878	blood:	n/a	n/a
13	CHD2	chr9:71735257-71736978	H1-hESC	embryonic stem cell:	n/a	chr9:71735872-71735882 chr9:71735875-71735885
14	CHD2	chr9:71736772-71736958	HepG2	liver:	n/a	n/a
15	CREB1	chr9:71735173-71736321	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTBP2	chr9:71735145-71736239	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTBP2	chr9:71736458-71737761	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr9:71736080-71736230	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr9:71736840-71736990	A549	lung:	n/a	n/a
20	CTCF	chr9:71736797-71736981	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr9:71736110-71736200	GM12878	blood:	n/a	n/a
22	CTCF	chr9:71736838-71736927	Spleen_OC	spleen:	n/a	n/a
23	CTCF	chr9:71736808-71736961	A549	lung:	n/a	n/a
24	CTCF	chr9:71736800-71736950	AG04450	lung:	n/a	n/a
25	CTCF	chr9:71736134-71736187	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr9:71736761-71737032	GM12891	blood:	n/a	n/a
27	CTCF	chr9:71736831-71736988	GM12878	blood:	n/a	n/a
28	CTCF	chr9:71736840-71736990	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr9:71736800-71736950	AoAF	blood vessel:	n/a	n/a
30	CTCF	chr9:71736840-71736990	AG10803	skin:	n/a	n/a
31	CTCF	chr9:71736800-71736950	AG09319	gingival:	n/a	n/a
32	CTCF	chr9:71736840-71736990	AoAF	blood vessel:	n/a	n/a
33	CTCF	chr9:71736760-71736910	HPAF	blood vessel:	n/a	n/a
34	CTCF	chr9:71736436-71736449	LNCaP	prostate:	n/a	n/a
35	CTCF	chr9:71736800-71736950	GM12872	blood:	n/a	n/a
36	CTCF	chr9:71736800-71736950	HMEC	breast:	n/a	n/a
37	CTCF	chr9:71736499-71736565	LNCaP	prostate:	n/a	n/a
38	CTCF	chr9:71741880-71741938	MCF-7	breast:	n/a	n/a
39	CTCF	chr9:71737080-71737230	HMEC	breast:	n/a	n/a
40	CTCF	chr9:71736380-71736530	AG04449	skin:	n/a	n/a
41	CTCF	chr9:71736380-71736530	SAEC	small airway:	n/a	n/a
42	CTCF	chr9:71736440-71736590	GM12870	blood:	n/a	n/a
43	CTCF	chr9:71736980-71737130	HFF	foreskin:	n/a	n/a
44	CTCF	chr9:71736900-71737050	SAEC	small airway:	n/a	n/a
45	CTCF	chr9:71736780-71736930	NHLF	lung:	n/a	n/a
46	CTCF	chr9:71736820-71736970	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr9:71736820-71736970	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr9:71736100-71736201	GM19240	blood:	n/a	n/a
49	CTCF	chr9:71736761-71737019	GM19240	blood:	n/a	n/a
50	CTCF	chr9:71736980-71737130	GM12866	blood:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:71736409-71736459	RPTEC	kidney:	n/a
2	chr9:71736409-71736459	RPTEC	kidney:	n/a
3	chr9:71737258-71737308	NH-A	brain:	n/a
4	chr9:71736999-71737049	GM12891	blood:	n/a
5	chr9:71736999-71737049	GM12892	blood:	n/a
6	chr9:71736854-71736904	NH-A	brain:	n/a
7	chr9:71736999-71737049	T-47D	breast:	n/a
8	chr9:71737258-71737308	PrEC	prostate:	n/a
9	chr9:71736999-71737049	PrEC	prostate:	n/a
10	chr9:71736854-71736904	HCM	heart:	n/a
11	chr9:71737756-71737806	HL-60	blood:	n/a
12	chr9:71737258-71737308	HRCEpiC	kidney:	n/a
13	chr9:71737756-71737806	HRPEpiC	eye:	n/a
14	chr9:71737204-71737254	RPTEC	kidney:	n/a
15	chr9:71736999-71737049	HRE	kidney:	n/a
16	chr9:71736409-71736459	HUVEC	blood vessel:	n/a
17	chr9:71737204-71737254	HUVEC	blood vessel:	n/a
18	chr9:71736409-71736459	AoSMC	blood vessel:	n/a
19	chr9:71736409-71736459	HIPEpiC	eye:	n/a
20	chr9:71736409-71736459	NT2-D1	testis:	n/a
21	chr9:71737756-71737806	HepG2	liver:	n/a
22	chr9:71736854-71736904	CMK	blood:	n/a
23	chr9:71737756-71737806	SK-N-SH_RA	brain:	n/a
24	chr9:71736854-71736904	GM12878	blood:	n/a
25	chr9:71736854-71736904	SK-N-SH_RA	brain:	n/a
26	chr9:71736409-71736459	PANC-1	pancreas:	n/a
27	chr9:71737756-71737806	AG09319	gingival:	n/a
28	chr9:71737258-71737308	AG10803	skin:	n/a
29	chr9:71737258-71737308	NB4	blood:	n/a
30	chr9:71737204-71737254	AG04449	skin:	fetal
31	chr9:71737258-71737308	PFSK-1	brain:	n/a
32	chr9:71737258-71737308	RPTEC	kidney:	n/a
33	chr9:71736409-71736459	HepG2	liver:	n/a
34	chr9:71737258-71737308	SKMC	muscle:	n/a
35	chr9:71736999-71737049	HCF	heart:	n/a
36	chr9:71736409-71736459	SK-N-SH_RA	brain:	n/a
37	chr9:71737756-71737806	SAEC	small airway:	n/a
38	chr9:71737204-71737254	A549	lung:	n/a
39	chr9:71737756-71737806	PrEC	prostate:	n/a
40	chr9:71736999-71737049	AG09319	gingival:	n/a
41	chr9:71736999-71737049	NT2-D1	testis:	n/a
42	chr9:71736999-71737049	HPAEpiC	pulmonary alveolar:	n/a
43	chr9:71736854-71736904	MCF10A-Er-Src	breast:	n/a
44	chr9:71737756-71737806	AoSMC	blood vessel:	n/a
45	chr9:71737756-71737806	GM12892	blood:	n/a
46	chr9:71737756-71737806	HIPEpiC	eye:	n/a
47	chr9:71737204-71737254	NHBE	bronchial:	n/a
48	chr9:71736854-71736904	HCT-116	colon:	n/a
49	chr9:71737756-71737806	PANC-1	pancreas:	n/a
50	chr9:71737756-71737806	ovcar-3	ovarian:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65666788..65667405-chr9:71737195..71738062,2	Hela-S3	cervix:
2	chr3:49066502..49067181-chr9:71736337..71736850,2	Hela-S3	cervix:
3	chr9:71736483..71737290-chr9:71808170..71808758,2	MCF-7	breast:
4	chr1:149223425..149225310-chr9:71736139..71738412,2	MCF-7	breast:
5	chr1:146555490..146556430-chr9:71736325..71736974,2	Hela-S3	cervix:
6	chr1:62208097..62208620-chr9:71736404..71737107,2	Hela-S3	cervix:
7	chr9:71720044..71724145-chr9:71733178..71738087,7	MCF-7	breast:
8	chr9:71736348..71739276-chr9:71751743..71753516,2	MCF-7	breast:
9	chr9:71696609..71699452-chr9:71736834..71738699,2	MCF-7	breast:
10	chr13:48611578..48612294-chr9:71736012..71736825,2	Hela-S3	cervix:
11	chr6:41040678..41041408-chr9:71735768..71736686,2	Hela-S3	cervix:
12	chr9:71733940..71739343-chr9:71741877..71748941,25	MCF-7	breast:
13	chr9:71734142..71739001-chr9:71788032..71795507,11	MCF-7	breast:
14	chr9:71736310..71738206-chr9:71797242..71798901,2	MCF-7	breast:
15	chr3:45017283..45018160-chr9:71735845..71736825,2	Hela-S3	cervix:
16	chr9:71727081..71728601-chr9:71737166..71739059,2	MCF-7	breast:
17	chr9:71743521..71745547-chr9:71821447..71823888,2	MCF-7	breast:
18	chr13:113241435..113242373-chr9:71735991..71736661,2	Hela-S3	cervix:
19	chr9:71735373..71738833-chr9:71764136..71766985,4	MCF-7	breast:
20	chr9:71733168..71738729-chr9:71786929..71793777,10	MCF-7	breast:
21	chr9:71649472..71654369-chr9:71735388..71737779,6	MCF-7	breast:
22	chr9:71734182..71738595-chr9:71741906..71745315,7	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TJP2-1	chr9:71736209-71736281	ENSG00000227410.1
2	lnc-TJP2-1	chr9:71736400-71737148	ENSG00000227410.1

No data

Variant related genes	Relation type
TJP2	TF binding region
TJP2	CpG island
ENSG00000206737	chromatin interactions
ENSG00000132849	chromatin interactions
ENSG00000136159	chromatin interactions
ENSG00000270236	chromatin interactions
ENSG00000119139	chromatin interactions
ENSG00000001167	chromatin interactions
ENSG00000163812	chromatin interactions
ENSG00000136143	chromatin interactions
ENSG00000272434	chromatin interactions
ENSG00000178035	chromatin interactions
ENSG00000075914	chromatin interactions
ENSG00000126216	chromatin interactions
ENSG00000165060	chromatin interactions

Extended variants
information (count: 231 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:231 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115097943	chr9:71736261-71736262	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
2	rs144215331	chr9:71736301-71736302	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs13291875	chr9:71736302-71736303	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs13291877	chr9:71736303-71736304	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs186966689	chr9:71736329-71736330	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs554111479	chr9:71736358-71736359	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs561451786	chr9:71736366-71736367	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs572327259	chr9:71736407-71736408	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
9	rs191761356	chr9:71736412-71736413	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
10	rs554512606	chr9:71736429-71736430	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
11	rs115540955	chr9:71736531-71736532	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
12	rs544410301	chr9:71736556-71736557	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
13	rs372481518	chr9:71736564-71736565	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
14	rs11145350	chr9:71736613-71736614	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs113862250	chr9:71736615-71736616	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
16	rs111504205	chr9:71736617-71736618	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
17	rs73447162	chr9:71736656-71736657	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs185723390	chr9:71736673-71736674	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
19	rs11145351	chr9:71736688-71736689	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs561352055	chr9:71736697-71736698	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
21	rs148797594	chr9:71736719-71736720	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
22	rs531918644	chr9:71736732-71736733	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
23	rs549626890	chr9:71736753-71736754	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
24	rs189705221	chr9:71736768-71736769	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
25	rs372935942	chr9:71736794-71736795	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
26	rs375150826	chr9:71736830-71736831	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
27	rs547455709	chr9:71736843-71736844	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
28	rs546558678	chr9:71736854-71736855	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
29	rs34208411	chr9:71736864-71736865	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
30	rs35980464	chr9:71736871-71736872	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
31	rs558330239	chr9:71736887-71736888	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
32	rs565675482	chr9:71736896-71736897	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
33	rs141553042	chr9:71736904-71736905	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
34	rs554832340	chr9:71736942-71736943	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
35	rs576171124	chr9:71736970-71736971	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
36	rs367958875	chr9:71736973-71736974	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
37	rs537220196	chr9:71737003-71737004	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
38	rs547230245	chr9:71737083-71737084	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
39	rs182232799	chr9:71737097-71737098	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
40	rs577677844	chr9:71737116-71737117	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs150901548	chr9:71737121-71737122	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs555833595	chr9:71737141-71737142	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs568979869	chr9:71737143-71737144	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs560162401	chr9:71737204-71737205	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs572087789	chr9:71737208-71737209	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs542987864	chr9:71737287-71737288	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs139728670	chr9:71737288-71737289	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs543958049	chr9:71737373-71737374	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs531833867	chr9:71737408-71737409	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs144379034	chr9:71737409-71737410	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD

Chromatin state (count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71729800-71745600	Weak transcription	K562	blood
2	chr9:71734800-71737800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr9:71734800-71737800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr9:71735000-71736400	Flanking Active TSS	Placenta	Placenta
5	chr9:71735000-71737600	Active TSS	Pancreas	Pancrea
6	chr9:71735000-71737800	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr9:71735000-71737800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr9:71735000-71738200	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr9:71735000-71738200	Active TSS	Fetal Intestine Large	intestine
10	chr9:71735200-71736200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:71735200-71736400	Active TSS	Colonic Mucosa	Colon
12	chr9:71735200-71736600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:71735200-71737400	Active TSS	Primary T cells from cord blood	blood
14	chr9:71735200-71738000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr9:71735200-71738000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:71735200-71738200	Active TSS	H1 Cell Line	embryonic stem cell
17	chr9:71735200-71738200	Active TSS	Fetal Intestine Small	intestine
18	chr9:71735200-71738400	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr9:71735400-71736200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr9:71735400-71736200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:71735400-71736200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:71735400-71737400	Active TSS	Rectal Smooth Muscle	rectum
23	chr9:71735400-71737400	Active TSS	Stomach Smooth Muscle	stomach
24	chr9:71735400-71737600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:71735400-71737600	Active TSS	Esophagus	oesophagus
26	chr9:71735400-71737600	Active TSS	Fetal Kidney	kidney
27	chr9:71735400-71737800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:71735400-71738000	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr9:71735600-71736200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:71735600-71736200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr9:71735600-71736200	Flanking Active TSS	Fetal Thymus	thymus
32	chr9:71735600-71736200	Flanking Active TSS	Dnd41	blood
33	chr9:71735600-71736200	Flanking Active TSS	HUVEC	blood vessel
34	chr9:71735600-71736200	Flanking Active TSS	NHEK	skin
35	chr9:71735600-71736400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
36	chr9:71735600-71737200	Active TSS	Stomach Mucosa	stomach
37	chr9:71735600-71737400	Active TSS	Brain Cingulate Gyrus	brain
38	chr9:71735600-71737400	Active TSS	Duodenum Mucosa	Duodenum
39	chr9:71735600-71737400	Active TSS	A549	lung
40	chr9:71735600-71737600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:71735600-71737600	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr9:71735600-71737600	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr9:71735600-71737600	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr9:71735600-71737600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr9:71735600-71737600	Active TSS	Brain Anterior Caudate	brain
46	chr9:71735600-71737600	Active TSS	Placenta Amnion	Placenta Amnion
47	chr9:71735600-71737600	Active TSS	Right Ventricle	heart
48	chr9:71735600-71737600	Active TSS	Thymus	Thymus
49	chr9:71735600-71737800	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr9:71735600-71738000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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