Variant report

Variant	nsv886302
Chromosome Location	chr6:80111104-80355973
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3811)
CpG islands
(count:1836)
Chromatin interactive
region (count:171)
LncRNA
region (count:45)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:3811 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:80114497-80114697	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:80170896-80171200	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:80246024-80246629	K562	blood:	n/a	n/a
4	ARID3A	chr6:80235204-80235757	K562	blood:	n/a	n/a
5	ARID3A	chr6:80177250-80177813	K562	blood:	n/a	n/a
6	ARID3A	chr6:80246977-80248592	K562	blood:	n/a	n/a
7	ARID3A	chr6:80340542-80341106	HepG2	liver:	n/a	n/a
8	ARID3A	chr6:80279899-80281051	HepG2	liver:	n/a	n/a
9	ARID3A	chr6:80342465-80342671	HepG2	liver:	n/a	n/a
10	ARID3A	chr6:80327008-80327843	HepG2	liver:	n/a	n/a
11	ARID3A	chr6:80267795-80268259	HepG2	liver:	n/a	n/a
12	ARID3A	chr6:80310611-80310986	HepG2	liver:	n/a	n/a
13	ARID3A	chr6:80173407-80174028	HepG2	liver:	n/a	n/a
14	ARID3A	chr6:80314380-80314832	HepG2	liver:	n/a	n/a
15	ARID3A	chr6:80246852-80247644	HepG2	liver:	n/a	n/a
16	ARID3A	chr6:80235184-80235825	HepG2	liver:	n/a	n/a
17	ARID3A	chr6:80314289-80314979	K562	blood:	n/a	n/a
18	ARID3A	chr6:80316724-80317001	HepG2	liver:	n/a	n/a
19	ARID3A	chr6:80309588-80309901	K562	blood:	n/a	n/a
20	ARID3A	chr6:80318365-80319160	HepG2	liver:	n/a	n/a
21	ARID3A	chr6:80175985-80176324	K562	blood:	n/a	n/a
22	ARID3A	chr6:80320426-80320640	K562	blood:	n/a	n/a
23	ARID3A	chr6:80214200-80214430	HepG2	liver:	n/a	n/a
24	ARID3A	chr6:80254576-80255190	K562	blood:	n/a	n/a
25	ARID3A	chr6:80324369-80324452	K562	blood:	n/a	n/a
26	ARID3A	chr6:80280421-80280884	K562	blood:	n/a	n/a
27	ARID3A	chr6:80342343-80342605	K562	blood:	n/a	n/a
28	ARID3A	chr6:80187067-80187087	K562	blood:	n/a	n/a
29	ARID3A	chr6:80340567-80341113	K562	blood:	n/a	n/a
30	ARID3A	chr6:80175976-80176290	HepG2	liver:	n/a	n/a
31	ARID3A	chr6:80284200-80284798	HepG2	liver:	n/a	n/a
32	ATF1	chr6:80246943-80247490	K562	blood:	n/a	n/a
33	ATF1	chr6:80235408-80235651	K562	blood:	n/a	n/a
34	ATF1	chr6:80177466-80177791	K562	blood:	n/a	n/a
35	ATF1	chr6:80309594-80309914	K562	blood:	n/a	n/a
36	ATF1	chr6:80254586-80255116	K562	blood:	n/a	n/a
37	ATF2	chr6:80280158-80280618	H1-hESC	embryonic stem cell:	n/a	n/a
38	ATF2	chr6:80254616-80255175	H1-hESC	embryonic stem cell:	n/a	n/a
39	ATF2	chr6:80247164-80247510	H1-hESC	embryonic stem cell:	n/a	n/a
40	ATF2	chr6:80253689-80255145	GM12878	blood:	n/a	n/a
41	ATF2	chr6:80246763-80247512	GM12878	blood:	n/a	n/a
42	ATF2	chr6:80254061-80255188	GM12878	blood:	n/a	n/a
43	ATF2	chr6:80280104-80280627	H1-hESC	embryonic stem cell:	n/a	n/a
44	ATF2	chr6:80254612-80255185	H1-hESC	embryonic stem cell:	n/a	n/a
45	ATF3	chr6:80314149-80314601	K562	blood:	n/a	n/a
46	ATF3	chr6:80254625-80255144	K562	blood:	n/a	n/a
47	ATF3	chr6:80331403-80331579	K562	blood:	n/a	n/a
48	ATF3	chr6:80129686-80129975	GM12878	blood:	n/a	n/a
49	ATF3	chr6:80235349-80235792	K562	blood:	n/a	n/a
50	BACH1	chr6:80342173-80342649	K562	blood:	n/a	n/a

(count:1836 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:80340561-80340611	NT2-D1	testis:	n/a
2	chr6:80341283-80341333	GM12892	blood:	n/a
3	chr6:80251197-80251247	MCF-7	breast:	n/a
4	chr6:80343854-80343904	MCF-7	breast:	n/a
5	chr6:80343854-80343904	SK-N-SH_RA	brain:	n/a
6	chr6:80247368-80247418	GM06990	blood:	n/a
7	chr6:80340561-80340611	NT2-D1	testis:	n/a
8	chr6:80341283-80341333	GM12892	blood:	n/a
9	chr6:80251197-80251247	MCF-7	breast:	n/a
10	chr6:80343854-80343904	MCF-7	breast:	n/a
11	chr6:80343854-80343904	SK-N-SH_RA	brain:	n/a
12	chr6:80247368-80247418	GM06990	blood:	n/a
13	chr6:80247344-80247394	HRE	kidney:	n/a
14	chr6:80247154-80247204	HCF	heart:	n/a
15	chr6:80340561-80340611	HIPEpiC	eye:	n/a
16	chr6:80246572-80246622	Caco-2	colon:	n/a
17	chr6:80340561-80340611	GM12878	blood:	n/a
18	chr6:80246421-80246471	HRPEpiC	eye:	n/a
19	chr6:80268304-80268354	AG04450	lung:	fetal
20	chr6:80343854-80343904	HUVEC	blood vessel:	n/a
21	chr6:80341412-80341462	NT2-D1	testis:	n/a
22	chr6:80224471-80224521	HCPEpiC	choroid plexus:	n/a
23	chr6:80246421-80246471	NHDF-neo	bronchial:	n/a
24	chr6:80343854-80343904	BJ	skin:	n/a
25	chr6:80247339-80247389	ProgFib	skin:	n/a
26	chr6:80247344-80247394	BE2_C	brain:	n/a
27	chr6:80247037-80247087	HRE	kidney:	n/a
28	chr6:80246572-80246622	MCF-7	breast:	n/a
29	chr6:80247368-80247418	AG04449	skin:	fetal
30	chr6:80247037-80247087	HAEpiC	amniotic membrane:	n/a
31	chr6:80121727-80121777	GM12891	blood:	n/a
32	chr6:80247286-80247336	HCM	heart:	n/a
33	chr6:80178612-80178662	MCF10A-Er-Src	breast:	n/a
34	chr6:80247339-80247389	HEK293	kidney:	embryo
35	chr6:80247368-80247418	NH-A	brain:	n/a
36	chr6:80341412-80341462	HCT-116	colon:	n/a
37	chr6:80247256-80247306	BJ	skin:	n/a
38	chr6:80247368-80247418	K562	blood:	n/a
39	chr6:80224471-80224521	RPTEC	kidney:	n/a
40	chr6:80268304-80268354	HNPCEpiC	eye:	n/a
41	chr6:80247907-80247957	HMEC	breast:	n/a
42	chr6:80340650-80340700	HMEC	breast:	n/a
43	chr6:80196224-80196274	AG09309	skin:	n/a
44	chr6:80247339-80247389	CMK	blood:	n/a
45	chr6:80341412-80341462	SK-N-SH	brain:	n/a
46	chr6:80196224-80196274	AG04449	skin:	fetal
47	chr6:80247368-80247418	ECC-1	luminal epithelium:	n/a
48	chr6:80246421-80246471	H1-hESC	embryonic stem cell:	embryo
49	chr6:80246572-80246622	HUVEC	blood vessel:	n/a
50	chr6:80340683-80340733	HAEpiC	amniotic membrane:	n/a

(count:171 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr6:80220196..80223373-chr6:80227964..80230707,4	K562	blood:
2	chr6:80115909..80117947-chr6:80119723..80121320,2	K562	blood:
3	chr6:80232386..80237378-chr6:80253283..80257767,7	K562	blood:
4	chr6:80242321..80244974-chr6:80252815..80254989,3	K562	blood:
5	chr6:80225254..80226799-chr6:80227104..80230022,2	K562	blood:
6	chr6:80234104..80236785-chr6:80239338..80241775,2	K562	blood:
7	chr6:80309921..80312950-chr6:80318776..80321900,3	MCF-7	breast:
8	chr6:80126507..80129278-chr6:80134334..80137318,3	K562	blood:
9	chr6:80246800..80248372-chr6:80281898..80284016,2	K562	blood:
10	chr6:80193082..80195834-chr6:80196342..80199250,3	K562	blood:
11	chr6:80253997..80256924-chr6:80273838..80276690,2	K562	blood:
12	chr6:80318365..80321776-chr6:80322794..80325239,3	K562	blood:
13	chr6:80140948..80141831-chr6:80176082..80176626,3	MCF-7	breast:
14	chr6:80314864..80317185-chr6:80322166..80324307,2	MCF-7	breast:
15	chr6:80218148..80219970-chr6:80220759..80223148,2	K562	blood:
16	chr6:80330254..80332568-chr6:80340852..80342576,2	MCF-7	breast:
17	chr6:80186377..80188286-chr6:80190241..80192504,2	MCF-7	breast:
18	chr6:80237991..80239810-chr6:80240324..80243252,3	K562	blood:
19	chr6:80280535..80281103-chr6:80296032..80296889,2	MCF-7	breast:
20	chr6:80323999..80326540-chr6:80327735..80331287,3	K562	blood:
21	chr6:80220196..80223373-chr6:80227964..80230707,4	K562	blood:
22	chr6:79786363..79788558-chr6:80246704..80249654,3	K562	blood:
23	chr6:80323999..80326540-chr6:80327735..80331287,3	K562	blood:
24	chr6:80212286..80214570-chr6:80222627..80224495,2	K562	blood:
25	chr6:80246201..80249127-chr6:80252156..80255932,7	MCF-7	breast:
26	chr6:79786974..79789353-chr6:80246033..80249654,3	K562	blood:
27	chr6:80340862..80342545-chr6:80350210..80353291,3	K562	blood:
28	chr6:80350361..80354281-chr6:80355740..80359649,5	K562	blood:
29	chr6:80200398..80203034-chr6:80246678..80249374,3	K562	blood:
30	chr6:80280186..80280816-chr6:80423216..80423767,2	K562	blood:
31	chr6:80218148..80219970-chr6:80220759..80223148,2	K562	blood:
32	chr6:80318365..80321776-chr6:80322794..80325239,3	K562	blood:
33	chr6:80315668..80318474-chr6:80337114..80339782,2	MCF-7	breast:
34	chr6:80271569..80273432-chr6:80276981..80278496,2	K562	blood:
35	chr6:80251123..80253109-chr6:80259738..80262557,2	K562	blood:
36	chr6:80145590..80147714-chr6:80149266..80151314,2	K562	blood:
37	chr6:80314692..80316652-chr6:80320135..80321870,2	K562	blood:
38	chr6:80293960..80295543-chr6:80310268..80312348,2	MCF-7	breast:
39	chr6:80141316..80143852-chr6:80149873..80151786,2	MCF-7	breast:
40	chr6:80120082..80122364-chr6:80124010..80126618,2	K562	blood:
41	chr6:80221232..80224610-chr6:80224901..80227580,3	K562	blood:
42	chr6:79910795..79911579-chr6:80175671..80176696,3	MCF-7	breast:
43	chr6:80141316..80143852-chr6:80149873..80151786,2	MCF-7	breast:
44	chr6:80339760..80341903-chr6:80349268..80351687,2	K562	blood:
45	chr6:80271060..80273432-chr6:80275931..80278481,2	K562	blood:
46	chr6:80109181..80111465-chr6:80112479..80114586,2	K562	blood:
47	chr6:80316501..80318082-chr6:80322161..80324470,2	K562	blood:
48	chr6:79786906..79788840-chr6:80139894..80142588,3	MCF-7	breast:
49	chr6:80186377..80188286-chr6:80190241..80192504,2	MCF-7	breast:
50	chr6:80227058..80229732-chr6:80232396..80234486,2	MCF-7	breast:

(count:45 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SH3BGRL2-1	chr6:80259800-80259817	XLOC_005361
2	lnc-SH3BGRL2-9	chr6:80190967-80191157	NONHSAT113692
3	lnc-SH3BGRL2-5	chr6:80283594-80285247	NONHSAT113706
4	lnc-SH3BGRL2-7	chr6:80262511-80262877	NONHSAT113705
5	lnc-SH3BGRL2-1	chr6:80257132-80257472	NONHSAT113702
6	lnc-SH3BGRL2-9	chr6:80228485-80228894	NONHSAT113695
7	lnc-SH3BGRL2-1	chr6:80247285-80247429	XLOC_005361
8	lnc-SH3BGRL2-2	chr6:80129967-80130121	NONHSAT113691
9	lnc-SH3BGRL2-1	chr6:80248445-80248562	NONHSAT113702
10	lnc-SH3BGRL2-8	chr6:80187474-80187741	NONHSAT113694
11	lnc-SH3BGRL2-2	chr6:80130014-80130121	ENSG00000231533
12	lnc-SH3BGRL2-8	chr6:80186733-80186840	NONHSAT113694
13	lnc-SH3BGRL2-2	chr6:80130755-80130985	NONHSAT113691
14	lnc-SH3BGRL2-4	chr6:80305164-80305279	l_3210_chr6:80303886-80314831_testes
15	lnc-SH3BGRL2-4	chr6:80313635-80314831	l_3210_chr6:80303886-80314831_testes
16	lnc-SH3BGRL2-1	chr6:80248445-80248560	XLOC_005361
17	lnc-SH3BGRL2-1	chr6:80247547-80247601	XLOC_005361
18	lnc-SH3BGRL2-1	chr6:80265448-80265908	NONHSAT113702
19	lnc-SH3BGRL2-1	chr6:80247342-80247601	XLOC_005361
20	lnc-SH3BGRL2-9	chr6:80195902-80196367	NONHSAT113692
21	lnc-SH3BGRL2-1	chr6:80251234-80251677	XLOC_005361
22	lnc-SH3BGRL2-1	chr6:80247342-80247429	XLOC_005361
23	lnc-SH3BGRL2-9	chr6:80190973-80191157	NONHSAT113695
24	lnc-SH3BGRL2-1	chr6:80251234-80251672	NONHSAT113702
25	lnc-LCA5-1	chr6:80146625-80146884	NONHSAT113693
26	lnc-SH3BGRL2-9	chr6:80181141-80181234	NONHSAT113692
27	lnc-SH3BGRL2-8	chr6:80186976-80187073	NONHSAT113694
28	lnc-SH3BGRL2-1	chr6:80248445-80248560	XLOC_005361
29	lnc-SH3BGRL2-2	chr6:80129949-80130121	NONHSAT113690
30	lnc-SH3BGRL2-4	chr6:80303887-80304375	l_3210_chr6:80303886-80314831_testes
31	lnc-SH3BGRL2-2	chr6:80129867-80130154	NONHSAT113689
32	lnc-SH3BGRL2-2	chr6:80130257-80130354	NONHSAT113690
33	lnc-SH3BGRL2-2	chr6:80130755-80131022	ENSG00000231533
34	lnc-SH3BGRL2-1	chr6:80251234-80251481	XLOC_005361
35	lnc-SH3BGRL2-9	chr6:80131799-80131920	NONHSAT113692
36	lnc-SH3BGRL2-2	chr6:80130257-80130354	NONHSAT113691
37	lnc-SH3BGRL2-2	chr6:80130758-80131144	NONHSAT113690
38	lnc-SH3BGRL2-4	chr6:80307939-80308716	l_3210_chr6:80303886-80314831_testes
39	lnc-SH3BGRL2-2	chr6:80130231-80130354	NONHSAT113689
40	lnc-SH3BGRL2-1	chr6:80248445-80248560	XLOC_005361
41	lnc-SH3BGRL2-6	chr6:80270849-80271319	ENSG00000272137.1
42	lnc-SH3BGRL2-2	chr6:80130257-80130354	ENSG00000231533
43	lnc-SH3BGRL2-1	chr6:80259800-80259817	XLOC_005361
44	lnc-SH3BGRL2-2	chr6:80130755-80131186	NONHSAT113689
45	lnc-SH3BGRL2-1	chr6:80248445-80248560	XLOC_005361

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	LCA5	hsa-miR-132-3p	chr6:80222799-80222819
2	LCA5	hsa-miR-335-5p	chr6:80196025-80196049
3	LCA5	hsa-miR-10a-5p	chr6:80194808-80194829
4	LCA5	hsa-miR-10a-5p	chr6:80194781-80194803

Variant related genes	Relation type
LCA5	TF binding region
SH3BGRL2	TF binding region
ENSG00000261970	TF binding region
ENSG00000262048	TF binding region
ENSG00000272137	TF binding region
ENSG00000231533	TF binding region
DBIP1	TF binding region
LCA5	CpG island
SH3BGRL2	CpG island
ENSG00000261970	CpG island
ENSG00000262048	CpG island
ENSG00000272137	CpG island
ENSG00000231533	CpG island
DBIP1	CpG island
ENSG00000119537	chromatin interactions
ENSG00000198478	chromatin interactions
ENSG00000135338	chromatin interactions
ENSG00000262048	chromatin interactions
ENSG00000146247	chromatin interactions
ENSG00000272137	chromatin interactions
ENSG00000270362	chromatin interactions
ENSG00000218748	chromatin interactions
ENSG00000261970	chromatin interactions
ENSG00000267390	chromatin interactions
ABHD4	miRNA target sites
ANGEL2	miRNA target sites
OCA2	miRNA target sites
EYS	miRNA target sites
SETD7	miRNA target sites

Extended variants
information (count: 8899 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:8899 , 50 per page) page: 1 2 3 4 5 6 7 ... 178

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9294143	chr6:80111104-80111105	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542173512	chr6:80111153-80111154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559024458	chr6:80111249-80111250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9361531	chr6:80111323-80111324	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs545211984	chr6:80111324-80111325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565502893	chr6:80111325-80111326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146258461	chr6:80111329-80111330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs55805600	chr6:80111331-80111332	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs559222915	chr6:80111337-80111338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375366053	chr6:80111369-80111370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs174525	chr6:80111381-80111382	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530122618	chr6:80111473-80111474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546989402	chr6:80111478-80111479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573300757	chr6:80111501-80111502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566989346	chr6:80111503-80111504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377191093	chr6:80111514-80111515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372107056	chr6:80111515-80111516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs36008584	chr6:80111526-80111527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200406807	chr6:80111527-80111528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200106599	chr6:80111605-80111606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539172465	chr6:80111607-80111608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183497114	chr6:80111710-80111711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142351786	chr6:80111778-80111779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12199976	chr6:80111806-80111807	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs75361269	chr6:80111829-80111830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567175240	chr6:80111835-80111836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544229782	chr6:80111836-80111837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535865731	chr6:80111902-80111903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562449293	chr6:80111932-80111933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145948992	chr6:80111938-80111939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572488749	chr6:80112002-80112003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545135928	chr6:80112007-80112008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528290534	chr6:80112033-80112034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372801728	chr6:80112079-80112080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529747313	chr6:80112086-80112087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558359661	chr6:80112087-80112088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575806365	chr6:80112090-80112091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544433339	chr6:80112130-80112131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs196667	chr6:80112163-80112164	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs189199606	chr6:80112196-80112197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575770229	chr6:80112246-80112247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs193209842	chr6:80112291-80112292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575159456	chr6:80112322-80112323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375472231	chr6:80112325-80112326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560502093	chr6:80112329-80112330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200059723	chr6:80112358-80112359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139508936	chr6:80112405-80112406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569212017	chr6:80112438-80112439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530733804	chr6:80112439-80112440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550473653	chr6:80112503-80112504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:3144 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80109000-80111600	Enhancers	Fetal Intestine Small	intestine
2	chr6:80109000-80115800	Enhancers	Fetal Intestine Large	intestine
3	chr6:80109600-80121200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:80109800-80112400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:80110000-80113400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:80110200-80114200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:80110400-80112400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:80110600-80113200	Weak transcription	HepG2	liver
9	chr6:80111600-80112000	Weak transcription	Fetal Intestine Small	intestine
10	chr6:80112000-80114800	Enhancers	Fetal Intestine Small	intestine
11	chr6:80112200-80113400	Enhancers	Fetal Lung	lung
12	chr6:80112400-80112600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr6:80112400-80112600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:80112400-80113600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr6:80112400-80114200	Enhancers	Ovary	ovary
16	chr6:80112400-80114800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:80112600-80113000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:80112600-80113200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr6:80112600-80114400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:80113000-80113200	Enhancers	Fetal Muscle Leg	muscle
21	chr6:80113000-80113600	Enhancers	Brain Substantia Nigra	brain
22	chr6:80113000-80115000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:80113000-80115400	Enhancers	Liver	Liver
24	chr6:80113200-80113600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr6:80113200-80114200	Enhancers	HepG2	liver
26	chr6:80113400-80114000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr6:80113400-80114400	Weak transcription	Fetal Muscle Leg	muscle
28	chr6:80113400-80114400	Weak transcription	Stomach Mucosa	stomach
29	chr6:80113400-80122800	Weak transcription	Fetal Lung	lung
30	chr6:80113600-80114000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:80113600-80114200	Enhancers	Brain Cingulate Gyrus	brain
32	chr6:80114000-80114600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:80114200-80114600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr6:80114200-80115000	Flanking Active TSS	HepG2	liver
35	chr6:80114200-80115000	Enhancers	K562	blood
36	chr6:80114200-80115600	Enhancers	Duodenum Mucosa	Duodenum
37	chr6:80114400-80114800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr6:80114400-80114800	Enhancers	Fetal Muscle Trunk	muscle
39	chr6:80114400-80114800	Enhancers	Left Ventricle	heart
40	chr6:80114400-80115000	Enhancers	Fetal Muscle Leg	muscle
41	chr6:80114400-80115400	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr6:80114800-80115000	Flanking Active TSS	Fetal Intestine Small	intestine
43	chr6:80114800-80115000	Enhancers	Stomach Mucosa	stomach
44	chr6:80115000-80115200	Enhancers	Fetal Intestine Small	intestine
45	chr6:80115000-80115200	Enhancers	HepG2	liver
46	chr6:80115200-80115400	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr6:80115400-80116200	Enhancers	Fetal Intestine Small	intestine
48	chr6:80115800-80116600	Weak transcription	Fetal Intestine Large	intestine
49	chr6:80116200-80131600	Weak transcription	Fetal Intestine Small	intestine
50	chr6:80116600-80116800	Enhancers	Fetal Intestine Large	intestine

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