Variant report

Variant	nsv947316
Chromosome Location	chr1:120355309-120362730
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	chr1:120358759-120359483	HepG2	liver:	n/a	n/a
2	ATF1	chr1:120357965-120358518	K562	blood:	n/a	n/a
3	ATF1	chr1:120359097-120359796	K562	blood:	n/a	n/a
4	CEBPB	chr1:120356656-120356896	A549	lung:	n/a	n/a
5	CEBPD	chr1:120357873-120358432	K562	blood:	n/a	n/a
6	CEBPD	chr1:120358007-120358411	K562	blood:	n/a	n/a
7	CUX1	chr1:120359118-120359538	K562	blood:	n/a	n/a
8	EGR1	chr1:120359185-120359460	K562	blood:	n/a	n/a
9	ELK1	chr1:120358897-120358924	K562	blood:	n/a	n/a
10	EP300	chr1:120356331-120356625	GM12878	blood:	n/a	n/a
11	EP300	chr1:120358944-120359429	HepG2	liver:	n/a	chr1:120359257-120359271 chr1:120359265-120359274
12	EP300	chr1:120359078-120359486	K562	blood:	n/a	chr1:120359257-120359271 chr1:120359265-120359274
13	EP300	chr1:120359057-120359425	SK-N-SH_RA	brain:	n/a	chr1:120359257-120359271 chr1:120359265-120359274
14	EP300	chr1:120357999-120358315	K562	blood:	n/a	n/a
15	EP300	chr1:120359086-120359386	SK-N-SH_RA	brain:	n/a	chr1:120359257-120359271 chr1:120359265-120359274
16	EP300	chr1:120358021-120358393	SK-N-SH_RA	brain:	n/a	n/a
17	EP300	chr1:120359075-120359362	HepG2	liver:	n/a	chr1:120359257-120359271 chr1:120359265-120359274
18	EP300	chr1:120357888-120358459	SK-N-SH_RA	brain:	n/a	n/a
19	EP300	chr1:120356999-120357267	SK-N-SH_RA	brain:	n/a	n/a
20	EP300	chr1:120359020-120359473	HepG2	liver:	n/a	chr1:120359257-120359271 chr1:120359265-120359274
21	EP300	chr1:120356926-120357249	SK-N-SH_RA	brain:	n/a	n/a
22	FAM48A	chr1:120360261-120360461	GM12878	blood:	n/a	n/a
23	FOS	chr1:120359144-120359344	MCF10A-Er-Src	breast:	n/a	chr1:120359265-120359275 chr1:120359264-120359275 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275
24	FOS	chr1:120359091-120359419	MCF10A-Er-Src	breast:	n/a	chr1:120359265-120359275 chr1:120359264-120359275 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275
25	FOS	chr1:120359091-120359431	HUVEC	blood vessel:	n/a	chr1:120359265-120359275 chr1:120359264-120359275 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275
26	FOS	chr1:120359096-120359410	MCF10A-Er-Src	breast:	n/a	chr1:120359265-120359275 chr1:120359264-120359275 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275
27	FOS	chr1:120358089-120358236	MCF10A-Er-Src	breast:	n/a	n/a
28	FOSL1	chr1:120358100-120358287	K562	blood:	n/a	n/a
29	FOSL2	chr1:120359014-120359359	A549	lung:	n/a	chr1:120359265-120359275 chr1:120359265-120359276 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275
30	FOSL2	chr1:120359048-120359507	HepG2	liver:	n/a	chr1:120359265-120359275 chr1:120359265-120359276 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275
31	FOSL2	chr1:120359061-120359527	HepG2	liver:	n/a	chr1:120359265-120359275 chr1:120359265-120359276 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275
32	FOXA1	chr1:120358904-120359487	HepG2	liver:	n/a	n/a
33	FOXA1	chr1:120358921-120359424	HepG2	liver:	n/a	n/a
34	FOXA1	chr1:120358874-120359469	HepG2	liver:	n/a	n/a
35	FOXA1	chr1:120359005-120359437	HepG2	liver:	n/a	n/a
36	FOXA2	chr1:120359042-120359359	HepG2	liver:	n/a	n/a
37	GATA2	chr1:120357945-120358342	K562	blood:	n/a	chr1:120358012-120358023
38	GATA3	chr1:120358962-120359466	SK-N-SH	brain:	n/a	chr1:120359259-120359269
39	HDAC2	chr1:120359008-120359473	HepG2	liver:	n/a	chr1:120359092-120359106
40	HEY1	chr1:120359100-120359509	HepG2	liver:	n/a	chr1:120359370-120359379
41	HEY1	chr1:120359177-120359463	HepG2	liver:	n/a	chr1:120359370-120359379
42	HNF4A	chr1:120359034-120359333	HepG2	liver:	n/a	chr1:120359154-120359169 chr1:120359154-120359169 chr1:120359154-120359169 chr1:120359155-120359163 chr1:120359155-120359168 chr1:120359153-120359161 chr1:120359155-120359169 chr1:120359154-120359169 chr1:120359156-120359168 chr1:120359156-120359168 chr1:120359155-120359169 chr1:120359156-120359169 chr1:120359156-120359168 chr1:120359156-120359168 chr1:120359153-120359171
43	HNF4A	chr1:120358980-120359340	HepG2	liver:	n/a	chr1:120359154-120359169 chr1:120359154-120359169 chr1:120359154-120359169 chr1:120359155-120359163 chr1:120359155-120359168 chr1:120359153-120359161 chr1:120359155-120359169 chr1:120359154-120359169 chr1:120359156-120359168 chr1:120359156-120359168 chr1:120359155-120359169 chr1:120359156-120359169 chr1:120359156-120359168 chr1:120359156-120359168 chr1:120359153-120359171
44	HNF4G	chr1:120359025-120359367	HepG2	liver:	n/a	chr1:120359154-120359169 chr1:120359154-120359169 chr1:120359155-120359163 chr1:120359155-120359168 chr1:120359155-120359170 chr1:120359153-120359161 chr1:120359155-120359169 chr1:120359154-120359169 chr1:120359156-120359168 chr1:120359156-120359168 chr1:120359155-120359169 chr1:120359156-120359169 chr1:120359156-120359168 chr1:120359156-120359168 chr1:120359153-120359171
45	JUN	chr1:120359079-120359389	HepG2	liver:	n/a	chr1:120359265-120359275 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275
46	JUN	chr1:120357986-120358596	K562	blood:	n/a	n/a
47	JUN	chr1:120359071-120359442	K562	blood:	n/a	chr1:120359265-120359275 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275
48	JUND	chr1:120359089-120359505	K562	blood:	n/a	chr1:120359265-120359275 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275 chr1:120359264-120359275
49	JUND	chr1:120359071-120359423	HepG2	liver:	n/a	chr1:120359265-120359275 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275 chr1:120359264-120359275
50	JUND	chr1:120359105-120359408	HepG2	liver:	n/a	chr1:120359265-120359275 chr1:120359265-120359275 chr1:120359260-120359269 chr1:120359265-120359275 chr1:120359266-120359275 chr1:120359265-120359275 chr1:120359264-120359275

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:120355361-120355411	ProgFib	skin:	n/a
2	chr1:120355361-120355411	HCT-116	colon:	n/a
3	chr1:120355361-120355411	HepG2	liver:	n/a
4	chr1:120355361-120355411	HIPEpiC	eye:	n/a
5	chr1:120355361-120355411	SKMC	muscle:	n/a
6	chr1:120355361-120355411	PANC-1	pancreas:	n/a
7	chr1:120355361-120355411	NH-A	brain:	n/a
8	chr1:120355361-120355411	GM12891	blood:	n/a
9	chr1:120355361-120355411	NHBE	bronchial:	n/a
10	chr1:120355361-120355411	HMEC	breast:	n/a
11	chr1:120355361-120355411	H1-hESC	embryonic stem cell:	embryo
12	chr1:120355361-120355411	A549	lung:	n/a
13	chr1:120355361-120355411	HAEpiC	amniotic membrane:	n/a
14	chr1:120355361-120355411	AG09309	skin:	n/a
15	chr1:120355361-120355411	AG09319	gingival:	n/a
16	chr1:120355361-120355411	RPTEC	kidney:	n/a
17	chr1:120355361-120355411	HNPCEpiC	eye:	n/a
18	chr1:120355361-120355411	HCM	heart:	n/a
19	chr1:120355361-120355411	HRE	kidney:	n/a
20	chr1:120355361-120355411	GM12892	blood:	n/a
21	chr1:120355361-120355411	HRPEpiC	eye:	n/a
22	chr1:120355361-120355411	IMR90	lung:	fetal
23	chr1:120355361-120355411	MCF-7	breast:	n/a
24	chr1:120355361-120355411	K562	blood:	n/a
25	chr1:120355361-120355411	MCF10A-Er-Src	breast:	n/a
26	chr1:120355361-120355411	CMK	blood:	n/a
27	chr1:120355361-120355411	HRCEpiC	kidney:	n/a
28	chr1:120355361-120355411	LNCaP	prostate:	n/a
29	chr1:120355361-120355411	NB4	blood:	n/a
30	chr1:120355361-120355411	AoSMC	blood vessel:	n/a
31	chr1:120355361-120355411	U87	brain:	n/a
32	chr1:120355361-120355411	SK-N-SH	brain:	n/a
33	chr1:120355361-120355411	GM12878	blood:	n/a
34	chr1:120355361-120355411	HEEpiC	esophagus:	n/a
35	chr1:120355361-120355411	NHDF-neo	bronchial:	n/a
36	chr1:120355361-120355411	HPAEpiC	pulmonary alveolar:	n/a
37	chr1:120355361-120355411	PrEC	prostate:	n/a
38	chr1:120355361-120355411	T-47D	breast:	n/a
39	chr1:120355361-120355411	HCPEpiC	choroid plexus:	n/a
40	chr1:120355361-120355411	Hepatocyte	liver:	n/a
41	chr1:120355361-120355411	AG04450	lung:	fetal
42	chr1:120355361-120355411	HEK293	kidney:	embryo
43	chr1:120355361-120355411	Caco-2	colon:	n/a
44	chr1:120355361-120355411	BJ	skin:	n/a
45	chr1:120355361-120355411	ovcar-3	ovarian:	n/a
46	chr1:120355361-120355411	SAEC	small airway:	n/a
47	chr1:120355361-120355411	AG04449	skin:	fetal
48	chr1:120355361-120355411	Hela-S3	cervix:	n/a
49	chr1:120355361-120355411	AG10803	skin:	n/a
50	chr1:120355361-120355411	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:120333977..120336154-chr1:120357521..120360172,2	MCF-7	breast:
2	chr1:120350326..120353072-chr1:120353931..120356277,2	MCF-7	breast:
3	chr1:120358099..120360727-chr1:144531568..144534050,2	K562	blood:
4	chr1:120351738..120353782-chr1:120355581..120358346,2	K562	blood:
5	chr1:120356024..120358010-chr1:120414554..120416804,2	MCF-7	breast:
6	chr1:120351185..120352714-chr1:120356340..120358363,2	MCF-7	breast:

Variant related genes	Relation type
REG4	TF binding region
REG4	CpG island
ENSG00000201699	chromatin interactions
ENSG00000134193	chromatin interactions

Extended variants
information (count: 236 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:236 , 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	rs587765905	chr1:120355350-120355351	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs6666925	chr1:120355361-120355362	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs587718333	chr1:120355384-120355385	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs190091117	chr1:120355411-120355412	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs2994811	chr1:120355513-120355514	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs587725296	chr1:120355603-120355604	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183320397	chr1:120355640-120355641	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs188255798	chr1:120355680-120355681	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs34327827	chr1:120355727-120355728	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs34221086	chr1:120355728-120355729	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs587699128	chr1:120355763-120355764	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs35389493	chr1:120355791-120355792	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs193061185	chr1:120355813-120355814	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs185294620	chr1:120355893-120355894	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs587686496	chr1:120355920-120355921	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs587738557	chr1:120355970-120355971	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375742419	chr1:120356009-120356010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs587618021	chr1:120356037-120356038	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs77515328	chr1:120356051-120356052	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs79194609	chr1:120356059-120356060	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs113857067	chr1:120356092-120356093	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs189017401	chr1:120356105-120356106	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs141885562	chr1:120356127-120356128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs61598511	chr1:120356172-120356173	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs146082291	chr1:120356200-120356201	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs140036182	chr1:120356243-120356244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs34595089	chr1:120356244-120356245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs587720015	chr1:120356319-120356320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs587745100	chr1:120356339-120356340	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs587602341	chr1:120356386-120356387	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs587620358	chr1:120356388-120356389	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs143540387	chr1:120356412-120356413	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs587731816	chr1:120356449-120356450	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs587627619	chr1:120356550-120356551	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs146881591	chr1:120356557-120356558	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs2994812	chr1:120356568-120356569	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs183464247	chr1:120356760-120356761	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs587672690	chr1:120356783-120356784	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs587724083	chr1:120356829-120356830	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs139753558	chr1:120356856-120356857	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs74787291	chr1:120356862-120356863	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs367922902	chr1:120356950-120356951	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs587683605	chr1:120356960-120356961	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs188186850	chr1:120356981-120356982	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs587613966	chr1:120356984-120356985	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs587687016	chr1:120356992-120356993	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs373715331	chr1:120356999-120357000	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs587637430	chr1:120357035-120357036	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs587700563	chr1:120357057-120357058	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs587752577	chr1:120357069-120357070	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	21272361	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ependymoma	19289631	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120349400-120355600	Enhancers	Liver	Liver
2	chr1:120351600-120357400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:120351800-120357000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:120352000-120356800	Weak transcription	HMEC	breast
5	chr1:120352000-120357000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:120352000-120357000	Weak transcription	HSMM	muscle
7	chr1:120352000-120357000	Weak transcription	NHEK	skin
8	chr1:120352000-120357600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:120354600-120358400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:120354800-120356800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:120354800-120356800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:120354800-120358600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:120355200-120356600	Weak transcription	Fetal Intestine Small	intestine
14	chr1:120355200-120356800	Weak transcription	Fetal Intestine Large	intestine
15	chr1:120355200-120356800	Weak transcription	Stomach Mucosa	stomach
16	chr1:120355200-120357200	Weak transcription	HepG2	liver
17	chr1:120355600-120358800	Weak transcription	Liver	Liver
18	chr1:120355800-120356800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:120356600-120361200	Enhancers	Fetal Intestine Small	intestine
20	chr1:120356800-120357000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr1:120356800-120357200	Enhancers	Left Ventricle	heart
22	chr1:120356800-120357400	Enhancers	Duodenum Mucosa	Duodenum
23	chr1:120356800-120358600	Enhancers	Fetal Heart	heart
24	chr1:120356800-120359600	Enhancers	Stomach Mucosa	stomach
25	chr1:120356800-120359800	Enhancers	HMEC	breast
26	chr1:120356800-120361000	Enhancers	Fetal Intestine Large	intestine
27	chr1:120356800-120361200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr1:120357000-120357200	Bivalent Enhancer	Small Intestine	intestine
29	chr1:120357000-120359400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:120357000-120359600	Enhancers	HSMM	muscle
31	chr1:120357000-120359800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:120357000-120359800	Enhancers	NHEK	skin
33	chr1:120357000-120360800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:120357200-120357400	Enhancers	Small Intestine	intestine
35	chr1:120357200-120361000	Enhancers	HepG2	liver
36	chr1:120357400-120357600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:120357400-120358400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:120357600-120358400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:120357600-120359600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:120357600-120359600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:120357800-120358600	Enhancers	HSMMtube	muscle
42	chr1:120357800-120359400	Enhancers	NH-A	brain
43	chr1:120357800-120359800	Enhancers	K562	blood
44	chr1:120358000-120359000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:120358200-120359600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:120358200-120359600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:120358200-120359600	Enhancers	Osteobl	bone
48	chr1:120358400-120358600	Enhancers	Hela-S3	cervix
49	chr1:120358400-120358800	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr1:120358400-120359600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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