Variant report

Variant	nsv893431
Chromosome Location	chr9:72003036-72048098
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:72037187-72037443	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:72027632-72027832	HepG2	liver:	n/a	n/a
3	BACH1	chr9:72044969-72045003	H1-hESC	embryonic stem cell:	n/a	n/a
4	BRCA1	chr9:72027757-72027957	H1-hESC	embryonic stem cell:	n/a	n/a
5	CBX3	chr9:72046604-72047163	K562	blood:	n/a	n/a
6	CBX3	chr9:72046628-72046987	K562	blood:	n/a	n/a
7	CEBPB	chr9:72027580-72027806	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr9:72037167-72037438	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr9:72009741-72009916	HepG2	liver:	n/a	n/a
10	CEBPD	chr9:72046517-72047194	K562	blood:	n/a	n/a
11	CEBPD	chr9:72046554-72047083	K562	blood:	n/a	n/a
12	CHD2	chr9:72027645-72027655	HepG2	liver:	n/a	n/a
13	CHD2	chr9:72027662-72027923	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr9:72036898-72036903	GM12878	blood:	n/a	n/a
15	CTCF	chr9:72027634-72027861	A549	lung:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
16	CTCF	chr9:72037220-72037370	HVMF	connective:	n/a	chr9:72037274-72037292 chr9:72037279-72037289 chr9:72037277-72037290 chr9:72037276-72037297 chr9:72037277-72037286 chr9:72037277-72037290 chr9:72037275-72037291
17	CTCF	chr9:72037564-72037608	GM12891	blood:	n/a	n/a
18	CTCF	chr9:72027640-72027790	GM12866	blood:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
19	CTCF	chr9:72037200-72037350	GM12864	blood:	n/a	chr9:72037274-72037292 chr9:72037279-72037289 chr9:72037277-72037290 chr9:72037276-72037297 chr9:72037277-72037286 chr9:72037277-72037290 chr9:72037275-72037291
20	CTCF	chr9:72037180-72037330	HAc	cerebellar:	n/a	chr9:72037274-72037292 chr9:72037279-72037289 chr9:72037277-72037290 chr9:72037276-72037297 chr9:72037277-72037286 chr9:72037277-72037290 chr9:72037275-72037291
21	CTCF	chr9:72036860-72037010	GM12878	blood:	n/a	n/a
22	CTCF	chr9:72027622-72027878	MCF-7	breast:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
23	CTCF	chr9:72027680-72027830	HCFaa	heart:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
24	CTCF	chr9:72043378-72043557	MCF-7	breast:	n/a	n/a
25	CTCF	chr9:72037200-72037350	HEEpiC	esophagus:	n/a	chr9:72037274-72037292 chr9:72037279-72037289 chr9:72037277-72037290 chr9:72037276-72037297 chr9:72037277-72037286 chr9:72037277-72037290 chr9:72037275-72037291
26	CTCF	chr9:72036900-72037050	GM12871	blood:	n/a	n/a
27	CTCF	chr9:72037140-72037290	GM12875	blood:	n/a	chr9:72037279-72037289 chr9:72037277-72037290 chr9:72037277-72037286 chr9:72037277-72037290
28	CTCF	chr9:72027680-72027830	Caco-2	colon:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
29	CTCF	chr9:72027700-72027850	GM12873	blood:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
30	CTCF	chr9:72037049-72037425	ECC-1	luminal epithelium:	n/a	chr9:72037274-72037292 chr9:72037279-72037289 chr9:72037277-72037290 chr9:72037276-72037297 chr9:72037277-72037286 chr9:72037277-72037290 chr9:72037275-72037291
31	CTCF	chr9:72040369-72040615	MCF-7	breast:	n/a	n/a
32	CTCF	chr9:72037200-72037350	HBMEC	blood vessel:	n/a	chr9:72037274-72037292 chr9:72037279-72037289 chr9:72037277-72037290 chr9:72037276-72037297 chr9:72037277-72037286 chr9:72037277-72037290 chr9:72037275-72037291
33	CTCF	chr9:72027537-72027835	K562	blood:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
34	CTCF	chr9:72037122-72037454	Medullo	brain:	n/a	chr9:72037274-72037292 chr9:72037279-72037289 chr9:72037277-72037290 chr9:72037276-72037297 chr9:72037277-72037286 chr9:72037277-72037290 chr9:72037275-72037291
35	CTCF	chr9:72027543-72027955	A549	lung:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
36	CTCF	chr9:72028040-72028190	WI-38	lung:	n/a	n/a
37	CTCF	chr9:72037128-72037444	Spleen_OC	spleen:	n/a	chr9:72037274-72037292 chr9:72037279-72037289 chr9:72037277-72037290 chr9:72037276-72037297 chr9:72037277-72037286 chr9:72037277-72037290 chr9:72037275-72037291
38	CTCF	chr9:72027609-72027893	A549	lung:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
39	CTCF	chr9:72043400-72043534	MCF-7	breast:	n/a	n/a
40	CTCF	chr9:72037122-72037494	A549	lung:	n/a	chr9:72037274-72037292 chr9:72037279-72037289 chr9:72037277-72037290 chr9:72037276-72037297 chr9:72037277-72037286 chr9:72037277-72037290 chr9:72037275-72037291
41	CTCF	chr9:72037200-72037350	HepG2	liver:	n/a	chr9:72037274-72037292 chr9:72037279-72037289 chr9:72037277-72037290 chr9:72037276-72037297 chr9:72037277-72037286 chr9:72037277-72037290 chr9:72037275-72037291
42	CTCF	chr9:72037148-72037390	GM13976	blood:	n/a	chr9:72037274-72037292 chr9:72037279-72037289 chr9:72037277-72037290 chr9:72037276-72037297 chr9:72037277-72037286 chr9:72037277-72037290 chr9:72037275-72037291
43	CTCF	chr9:72027620-72027770	GM12873	blood:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
44	CTCF	chr9:72037200-72037350	NHDF-neo	bronchial:	n/a	chr9:72037274-72037292 chr9:72037279-72037289 chr9:72037277-72037290 chr9:72037276-72037297 chr9:72037277-72037286 chr9:72037277-72037290 chr9:72037275-72037291
45	CTCF	chr9:72027619-72027905	GM12878	blood:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
46	CTCF	chr9:72027640-72027790	RPTEC	kidney:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
47	CTCF	chr9:72027615-72027878	MCF-7	breast:	n/a	chr9:72027736-72027754 chr9:72027741-72027751 chr9:72027739-72027748 chr9:72027739-72027752
48	CTCF	chr9:72037164-72037398	GM10248	blood:	n/a	chr9:72037274-72037292 chr9:72037279-72037289 chr9:72037277-72037290 chr9:72037276-72037297 chr9:72037277-72037286 chr9:72037277-72037290 chr9:72037275-72037291
49	CTCF	chr9:72037200-72037350	NB4	blood:	n/a	chr9:72037274-72037292 chr9:72037279-72037289 chr9:72037277-72037290 chr9:72037276-72037297 chr9:72037277-72037286 chr9:72037277-72037290 chr9:72037275-72037291
50	CTCF	chr9:72040440-72040548	LNCaP	prostate:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:72027409-72027459	SKMC	muscle:	n/a
2	chr9:72027019-72027069	H1-hESC	embryonic stem cell:	embryo
3	chr9:72046240-72046290	PFSK-1	brain:	n/a
4	chr9:72027409-72027459	AG09309	skin:	n/a
5	chr9:72027019-72027069	AoSMC	blood vessel:	n/a
6	chr9:72046240-72046290	NH-A	brain:	n/a
7	chr9:72027019-72027069	AG10803	skin:	n/a
8	chr9:72027409-72027459	NT2-D1	testis:	n/a
9	chr9:72046240-72046290	NB4	blood:	n/a
10	chr9:72046240-72046290	HepG2	liver:	n/a
11	chr9:72027019-72027069	U87	brain:	n/a
12	chr9:72046240-72046290	HEK293	kidney:	embryo
13	chr9:72046240-72046290	AG09319	gingival:	n/a
14	chr9:72027019-72027069	RPTEC	kidney:	n/a
15	chr9:72046240-72046290	CMK	blood:	n/a
16	chr9:72046240-72046290	HUVEC	blood vessel:	n/a
17	chr9:72046240-72046290	GM19239	blood:	n/a
18	chr9:72027409-72027459	Hepatocyte	liver:	n/a
19	chr9:72027019-72027069	HCT-116	colon:	n/a
20	chr9:72027019-72027069	HAEpiC	amniotic membrane:	n/a
21	chr9:72027019-72027069	AG09309	skin:	n/a
22	chr9:72027409-72027459	NH-A	brain:	n/a
23	chr9:72046240-72046290	MCF-7	breast:	n/a
24	chr9:72027409-72027459	AG04449	skin:	fetal
25	chr9:72027019-72027069	HepG2	liver:	n/a
26	chr9:72046240-72046290	AoSMC	blood vessel:	n/a
27	chr9:72027409-72027459	AG04450	lung:	fetal
28	chr9:72046240-72046290	NT2-D1	testis:	n/a
29	chr9:72027019-72027069	AG04450	lung:	fetal
30	chr9:72046240-72046290	HL-60	blood:	n/a
31	chr9:72027019-72027069	K562	blood:	n/a
32	chr9:72027409-72027459	HIPEpiC	eye:	n/a
33	chr9:72027409-72027459	HRE	kidney:	n/a
34	chr9:72027019-72027069	Hela-S3	cervix:	n/a
35	chr9:72046240-72046290	AG09309	skin:	n/a
36	chr9:72046240-72046290	LNCaP	prostate:	n/a
37	chr9:72027409-72027459	GM12878	blood:	n/a
38	chr9:72027409-72027459	AoSMC	blood vessel:	n/a
39	chr9:72027409-72027459	GM19239	blood:	n/a
40	chr9:72027409-72027459	ovcar-3	ovarian:	n/a
41	chr9:72027409-72027459	K562	blood:	n/a
42	chr9:72046240-72046290	HRE	kidney:	n/a
43	chr9:72027409-72027459	HCT-116	colon:	n/a
44	chr9:72046240-72046290	SK-N-MC	brain:	n/a
45	chr9:72046240-72046290	HPAEpiC	pulmonary alveolar:	n/a
46	chr9:72046240-72046290	GM06990	blood:	n/a
47	chr9:72027409-72027459	SK-N-SH	brain:	n/a
48	chr9:72046240-72046290	HRPEpiC	eye:	n/a
49	chr9:72027409-72027459	HRPEpiC	eye:	n/a
50	chr9:72027409-72027459	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:71996842..72001188-chr9:72001690..72005051,4	MCF-7	breast:
2	chr9:71650287..71651089-chr9:72027660..72028217,2	K562	blood:
3	chr9:71939359..71941808-chr9:72025736..72028094,2	MCF-7	breast:
4	chr9:72008297..72012521-chr9:72012809..72015808,4	MCF-7	breast:
5	chr9:72044312..72045985-chr9:72046714..72048470,2	MCF-7	breast:
6	chr9:71938263..71940999-chr9:72013792..72015561,2	MCF-7	breast:
7	chr9:72038579..72040872-chr9:72161729..72164338,3	MCF-7	breast:
8	chr9:71907771..71908503-chr9:72004389..72005167,3	MCF-7	breast:
9	chr9:72009613..72012397-chr9:72013386..72015808,3	MCF-7	breast:
10	chr9:72005489..72008452-chr9:72026108..72027745,2	K562	blood:
11	chr9:72044312..72045985-chr9:72046714..72048470,2	MCF-7	breast:
12	chr9:72036807..72037778-chr9:72056686..72057333,2	MCF-7	breast:
13	chr9:71939060..71941489-chr9:72004680..72008165,4	MCF-7	breast:
14	chr9:71905657..71909249-chr9:72003453..72006230,4	MCF-7	breast:
15	chr9:72000502..72003339-chr9:72007156..72008716,2	K562	blood:
16	chr9:72036664..72037777-chr9:72163377..72165001,9	K562	blood:
17	chr9:72036895..72038079-chr9:72163773..72164881,7	MCF-7	breast:
18	chr9:72027335..72027966-chr9:72164135..72164934,2	MCF-7	breast:
19	chr9:71999516..72001197-chr9:72009030..72011371,2	MCF-7	breast:
20	chr9:72039845..72040903-chr9:72160889..72161458,4	MCF-7	breast:
21	chr9:71650223..71652373-chr9:72005112..72007667,2	MCF-7	breast:
22	chr9:72009613..72012397-chr9:72013386..72015808,3	MCF-7	breast:
23	chr9:71907137..71907714-chr9:72027328..72028069,2	MCF-7	breast:
24	chr9:72027288..72028201-chr9:72161004..72161637,2	MCF-7	breast:
25	chr9:72008297..72012521-chr9:72012809..72015808,4	MCF-7	breast:
26	chr9:71991902..71994131-chr9:72003113..72004905,2	MCF-7	breast:
27	chr9:72005489..72008452-chr9:72026108..72027745,2	K562	blood:
28	chr9:72000714..72007830-chr9:72009954..72019278,14	MCF-7	breast:
29	chr9:72036812..72037787-chr9:72160880..72161856,6	MCF-7	breast:
30	chr9:71937269..71941011-chr9:72000572..72004392,4	MCF-7	breast:
31	chr9:71938861..71941918-chr9:72004713..72009090,4	MCF-7	breast:
32	chr9:71734709..71737586-chr9:72003144..72005018,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APBA1-2	chr9:72009222-72010989	XLOC_007725
2	lnc-APBA1-2	chr9:72013650-72013753	XLOC_007725
3	lnc-APBA1-1	chr9:72043164-72043467	ENSG00000243888
4	lnc-APBA1-1	chr9:72042449-72044751	NONHSAT131778
5	lnc-APBA1-1	chr9:72043544-72043637	ENSG00000243888

Variant related genes	Relation type
ENSG00000243888	TF binding region
ENSG00000243888	CpG island
ENSG00000165060	chromatin interactions
ENSG00000119139	chromatin interactions
ENSG00000135063	chromatin interactions
ARNTL	miRNA target sites
PTEN	miRNA target sites

Extended variants
information (count: 1901 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1901 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs867366	chr9:72003036-72003037	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs373778180	chr9:72003043-72003044	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs569340467	chr9:72003047-72003048	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs377415111	chr9:72003051-72003052	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372050254	chr9:72003052-72003053	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs374943403	chr9:72003066-72003067	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200987296	chr9:72003100-72003101	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs539191443	chr9:72003132-72003133	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534568204	chr9:72003146-72003147	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs79460004	chr9:72003156-72003157	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs139896252	chr9:72003181-72003182	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs149212614	chr9:72003184-72003185	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs371774614	chr9:72003227-72003228	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs564236436	chr9:72003228-72003229	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs568245371	chr9:72003234-72003235	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs370779366	chr9:72003244-72003245	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs371753647	chr9:72003249-72003250	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs145184901	chr9:72003292-72003293	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs536771300	chr9:72003327-72003328	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs200887680	chr9:72003350-72003351	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs374829548	chr9:72003352-72003353	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs369228964	chr9:72003361-72003362	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs12345431	chr9:72003388-72003389	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs371776445	chr9:72003394-72003395	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs149833638	chr9:72003428-72003429	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs576543981	chr9:72003435-72003436	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs543806499	chr9:72003523-72003524	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs145802962	chr9:72003524-72003525	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs10780336	chr9:72003529-72003530	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs541329989	chr9:72003551-72003552	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs35918298	chr9:72003553-72003554	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs11138400	chr9:72003585-72003586	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs148441988	chr9:72003651-72003652	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs184194199	chr9:72003685-72003686	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs370653607	chr9:72003704-72003705	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs373777826	chr9:72003711-72003712	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs11138402	chr9:72003723-72003724	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs530484231	chr9:72003758-72003759	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs145125449	chr9:72003774-72003775	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs566413861	chr9:72003786-72003787	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs563891487	chr9:72003787-72003788	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs551318320	chr9:72003790-72003791	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs13292830	chr9:72003794-72003795	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
44	rs73647205	chr9:72003802-72003803	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568308437	chr9:72003886-72003887	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs535633725	chr9:72003891-72003892	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs538275159	chr9:72003917-72003918	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs368707321	chr9:72003927-72003928	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs188191217	chr9:72003988-72003989	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs117600050	chr9:72003993-72003994	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:606 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71985400-72006600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr9:71991800-72012200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:71992000-72009800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr9:71992600-72006200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr9:71992600-72006600	Weak transcription	Esophagus	oesophagus
6	chr9:71993000-72006600	Weak transcription	Brain Hippocampus Middle	brain
7	chr9:71994400-72006800	Weak transcription	Spleen	Spleen
8	chr9:71995000-72012600	Weak transcription	Aorta	Aorta
9	chr9:71996600-72004200	Weak transcription	Right Atrium	heart
10	chr9:71997200-72005000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr9:71997200-72006600	Weak transcription	HSMMtube	muscle
12	chr9:71997400-72007400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr9:71997400-72009800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:71997600-72006200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr9:71997600-72006600	Weak transcription	Fetal Lung	lung
16	chr9:71998200-72005400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
17	chr9:71998400-72003600	Strong transcription	Fetal Stomach	stomach
18	chr9:72000000-72005000	Strong transcription	Ovary	ovary
19	chr9:72000200-72003600	Strong transcription	Fetal Muscle Leg	muscle
20	chr9:72000200-72004800	Enhancers	Pancreas	Pancrea
21	chr9:72000200-72005000	Strong transcription	Stomach Smooth Muscle	stomach
22	chr9:72000600-72006600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr9:72000800-72003200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
24	chr9:72000800-72003400	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr9:72001000-72003400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr9:72001000-72006600	Weak transcription	Lung	lung
27	chr9:72001400-72003800	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr9:72001600-72003400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:72001600-72003600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr9:72001600-72004400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
31	chr9:72001800-72003200	Genic enhancers	Left Ventricle	heart
32	chr9:72001800-72003400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr9:72001800-72003400	Strong transcription	Adipose Nuclei	Adipose
34	chr9:72001800-72003400	Strong transcription	Brain Anterior Caudate	brain
35	chr9:72001800-72003400	Enhancers	Psoas Muscle	Psoas
36	chr9:72001800-72006400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr9:72002000-72003400	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr9:72002000-72003600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr9:72002200-72006400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr9:72002400-72005200	Genic enhancers	Fetal Heart	heart
41	chr9:72002400-72006000	Weak transcription	Colon Smooth Muscle	Colon
42	chr9:72002400-72006400	Weak transcription	Right Ventricle	heart
43	chr9:72002400-72006800	Weak transcription	Gastric	stomach
44	chr9:72002600-72003600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:72002600-72006400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr9:72002800-72003400	Strong transcription	Brain Substantia Nigra	brain
47	chr9:72002800-72003600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr9:72002800-72005000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr9:72002800-72012400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr9:72003000-72003200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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