Variant report

Variant	nsv890941
Chromosome Location	chr8:60309850-60381595
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	BACH1	chr8:60359389-60359727	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr8:60359423-60359566	K562	blood:	n/a	n/a
3	CEBPB	chr8:60326032-60326232	A549	lung:	n/a	chr8:60326188-60326199
4	CEBPB	chr8:60375074-60375574	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr8:60337868-60338028	A549	lung:	n/a	n/a
6	CEBPB	chr8:60326057-60326333	HepG2	liver:	n/a	chr8:60326188-60326199
7	CHD2	chr8:60374982-60375495	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr8:60347260-60347410	HMEC	breast:	n/a	n/a
9	CTCF	chr8:60347240-60347390	GM12873	blood:	n/a	n/a
10	CTCF	chr8:60347180-60347330	HEK293	kidney:	n/a	n/a
11	CTCF	chr8:60347099-60347371	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr8:60347280-60347430	GM12865	blood:	n/a	n/a
13	CTCF	chr8:60374980-60375130	SAEC	small airway:	n/a	n/a
14	CTCF	chr8:60347060-60347210	RPTEC	kidney:	n/a	n/a
15	CTCF	chr8:60375240-60375390	SAEC	small airway:	n/a	n/a
16	CTCF	chr8:60347200-60347350	NHEK	skin:	n/a	n/a
17	CTCF	chr8:60313140-60313224	GM10248	blood:	n/a	n/a
18	CTCF	chr8:60347180-60347330	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr8:60332973-60332990	Kidney_OC	kidney:	n/a	n/a
20	CTCF	chr8:60347240-60347390	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr8:60347280-60347430	GM12864	blood:	n/a	n/a
22	CTCF	chr8:60375080-60375230	SAEC	small airway:	n/a	n/a
23	CTCF	chr8:60347140-60347290	GM12872	blood:	n/a	n/a
24	CTCF	chr8:60346860-60347010	HCT-116	colon:	n/a	n/a
25	CTCF	chr8:60375079-60375168	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr8:60347180-60347330	GM12866	blood:	n/a	n/a
27	CTCF	chr8:60347180-60347330	BE2_C	brain:	n/a	n/a
28	CTCF	chr8:60347200-60347350	HEK293	kidney:	n/a	n/a
29	CTCF	chr8:60347180-60347330	HCT-116	colon:	n/a	n/a
30	CTCF	chr8:60347220-60347370	BE2_C	brain:	n/a	n/a
31	CTCF	chr8:60347020-60347170	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr8:60347220-60347370	GM12872	blood:	n/a	n/a
33	E2F4	chr8:60352309-60352506	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr8:60381087-60381218	MCF10A-Er-Src	breast:	n/a	n/a
35	ELK1	chr8:60375347-60375372	Hela-S3	cervix:	n/a	n/a
36	EP300	chr8:60336520-60336904	SK-N-SH_RA	brain:	n/a	chr8:60336730-60336739
37	EP300	chr8:60336568-60336923	SK-N-SH_RA	brain:	n/a	chr8:60336898-60336912 chr8:60336730-60336739
38	EP300	chr8:60375182-60375706	Hela-S3	cervix:	n/a	n/a
39	EP300	chr8:60376054-60376422	SK-N-SH_RA	brain:	n/a	n/a
40	FOS	chr8:60342037-60342239	MCF10A-Er-Src	breast:	n/a	chr8:60342224-60342234 chr8:60342225-60342232 chr8:60342225-60342233 chr8:60342223-60342235 chr8:60342224-60342233
41	FOS	chr8:60375190-60375555	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr8:60343138-60343258	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr8:60375176-60375532	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr8:60375173-60375540	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr8:60342075-60342258	MCF10A-Er-Src	breast:	n/a	chr8:60342224-60342234 chr8:60342225-60342232 chr8:60342225-60342233 chr8:60342223-60342235 chr8:60342224-60342233
46	FOS	chr8:60375190-60375538	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr8:60343096-60343216	MCF10A-Er-Src	breast:	n/a	n/a
48	FOXA2	chr8:60374926-60375175	A549	lung:	n/a	n/a
49	FOXA2	chr8:60374700-60375255	A549	lung:	n/a	n/a
50	GABPA	chr8:60375205-60375463	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:60307556..60310133-chr8:60318318..60320436,2	K562	blood:
2	chr8:60353422..60355080-chr8:60359821..60362576,2	K562	blood:
3	chr8:60352662..60355420-chr8:60364405..60366691,2	K562	blood:
4	chr8:60349625..60352522-chr8:60358997..60361385,2	K562	blood:
5	chr8:60352662..60355420-chr8:60364405..60366691,2	K562	blood:
6	chr8:60353422..60355080-chr8:60359821..60362576,2	K562	blood:
7	chr8:60307556..60310133-chr8:60318318..60320436,2	K562	blood:
8	chr8:60349625..60352522-chr8:60358997..60361385,2	K562	blood:

Variant related genes	Relation type
RNA5SP267	TF binding region

Extended variants
information (count: 1126 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1126 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3942395	chr8:60309850-60309851	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs367567539	chr8:60309937-60309938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149993318	chr8:60310046-60310047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550763420	chr8:60310060-60310061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11986148	chr8:60310074-60310075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187166688	chr8:60310094-60310095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533448484	chr8:60310097-60310098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552084423	chr8:60310113-60310114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144223492	chr8:60310155-60310156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74638560	chr8:60310169-60310170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113592878	chr8:60310172-60310173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568170371	chr8:60310176-60310177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191918145	chr8:60310239-60310240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184349769	chr8:60310254-60310255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371263088	chr8:60310315-60310316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575438610	chr8:60310335-60310336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373193639	chr8:60310363-60310364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116986319	chr8:60310383-60310384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558063653	chr8:60310399-60310400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573130664	chr8:60310424-60310425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188667924	chr8:60310425-60310426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561796504	chr8:60310430-60310431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566432629	chr8:60310449-60310450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538233498	chr8:60310519-60310520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193236953	chr8:60310531-60310532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562725591	chr8:60310535-60310536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533601381	chr8:60310545-60310546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551758977	chr8:60310558-60310559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560855393	chr8:60310581-60310582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558922813	chr8:60310614-60310615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528035194	chr8:60310630-60310631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146489369	chr8:60310682-60310683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568111230	chr8:60310703-60310704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140961447	chr8:60310783-60310784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550731788	chr8:60310803-60310804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75286947	chr8:60310806-60310807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143373523	chr8:60310810-60310811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557723464	chr8:60310879-60310880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76133493	chr8:60310891-60310892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533878480	chr8:60310892-60310893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1401425	chr8:60310916-60310917	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs151232853	chr8:60310976-60310977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577840816	chr8:60310981-60310982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559571563	chr8:60311434-60311435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs568952015	chr8:60311447-60311448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs528522521	chr8:60311506-60311507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs374441511	chr8:60311543-60311544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs111372273	chr8:60311587-60311588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs137874840	chr8:60311588-60311589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs527498720	chr8:60320420-60320421	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60309800-60311000	Enhancers	Dnd41	blood
2	chr8:60311400-60311600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
3	chr8:60320400-60321200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr8:60321200-60321600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:60321600-60322200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr8:60323600-60324200	Enhancers	Osteobl	bone
7	chr8:60333200-60333800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:60333800-60334000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:60334000-60336200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:60335800-60337600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr8:60336200-60336400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:60336200-60336800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:60336200-60337200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:60337600-60342800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:60342000-60344200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:60342200-60343200	Enhancers	Osteobl	bone
17	chr8:60342200-60343600	Enhancers	HMEC	breast
18	chr8:60342400-60343600	Enhancers	NHEK	skin
19	chr8:60342800-60343600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr8:60343000-60343400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:60343200-60343600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr8:60343200-60343600	Flanking Active TSS	Osteobl	bone
23	chr8:60347000-60348200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr8:60348200-60349200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:60349200-60349400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr8:60356200-60357400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr8:60359200-60359800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr8:60359400-60360000	Enhancers	Hela-S3	cervix
29	chr8:60368600-60368800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:60374600-60375600	Enhancers	Primary T cells fromperipheralblood	blood
31	chr8:60374600-60375600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:60374600-60375800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr8:60375000-60375200	Enhancers	Thymus	Thymus
34	chr8:60375000-60375400	Enhancers	Primary B cells from peripheral blood	blood
35	chr8:60375000-60375400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr8:60375000-60375400	Active TSS	Hela-S3	cervix
37	chr8:60375000-60375600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr8:60375000-60375600	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr8:60375000-60376000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:60375000-60376000	Enhancers	HMEC	breast
41	chr8:60375400-60376000	Enhancers	Primary T cells from cord blood	blood
42	chr8:60375400-60376200	Enhancers	Hela-S3	cervix
43	chr8:60375400-60376400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:60375600-60376000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr8:60376000-60389600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:60380200-60381000	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr8:60380400-60380600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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