Variant report

Variant	nsv824687
Chromosome Location	chr8:91144854-91177488
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:54)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:91152815..91155655-chr8:91173130..91176716,3	K562	blood:
2	chr11:62608628..62609154-chr8:91155316..91155836,3	MCF-7	breast:
3	chr11:62608623..62609195-chr8:91155314..91155835,10	HCT-116	colon:
4	chr3:73159943..73160600-chr8:91154835..91155836,3	HCT-116	colon:
5	chr8:91166036..91168487-chr8:91169692..91172196,2	MCF-7	breast:
6	chr4:6564574..6566094-chr8:91155316..91156835,2	K562	blood:
7	chr8:91143606..91145604-chr8:91237948..91239469,2	K562	blood:
8	chr17:41463347..41467581-chr8:91153836..91156836,7	K562	blood:
9	chr8:91151874..91154123-chr8:91154645..91156445,2	K562	blood:
10	chr3:73160015..73161608-chr8:91155335..91156836,2	K562	blood:
11	chr8:91160123..91162835-chr8:91174934..91176685,2	K562	blood:
12	chr8:91152701..91155166-chr8:91157223..91159554,2	K562	blood:
13	chr1:160080964..160082487-chr8:91155315..91156836,2	K562	blood:
14	chr8:91148105..91150746-chr8:91155344..91157015,2	K562	blood:
15	chr11:62607627..62609222-chr8:91155315..91156836,3	K562	blood:
16	chr8:91155035..91157497-chr8:91163156..91166027,2	K562	blood:
17	chr8:91147559..91149333-chr8:91149413..91151498,3	K562	blood:
18	chr8:91013417..91015072-chr8:91160846..91162367,2	MCF-7	breast:
19	chr11:62608628..62609148-chr8:91155315..91155836,4	NB4	blood:
20	chr11:62608620..62609200-chr8:91155315..91155835,4	MCF-7	breast:
21	chr17:41398631..41400267-chr8:91153816..91155335,2	K562	blood:
22	chr3:73159863..73160591-chr8:91155335..91155835,3	MCF-7	breast:
23	chr8:91157239..91159941-chr8:91180343..91182427,2	K562	blood:
24	chr8:91176914..91178549-chr8:91234676..91237074,2	K562	blood:
25	chr8:91139396..91140972-chr8:91161545..91163760,2	K562	blood:
26	chr8:91151874..91154123-chr8:91154645..91156445,2	K562	blood:
27	chr8:91166036..91168487-chr8:91169692..91172196,2	MCF-7	breast:
28	chr8:91177407..91179281-chr8:91196128..91199121,2	MCF-7	breast:
29	chr8:91152980..91155385-chr8:91174154..91176618,2	K562	blood:
30	chr8:91147559..91149333-chr8:91149413..91151498,3	K562	blood:
31	chr8:91142074..91143853-chr8:91145432..91147703,2	K562	blood:
32	chr8:91177198..91178801-chr8:91185940..91187719,2	MCF-7	breast:
33	chr3:73159952..73160589-chr8:91154816..91155815,2	Hela-S3	cervix:
34	chr17:41465192..41465706-chr8:91155316..91155835,2	HCT-116	colon:
35	chr8:91143386..91146044-chr8:91149940..91153117,3	K562	blood:
36	chr8:91152815..91155655-chr8:91173130..91176716,3	K562	blood:
37	chr8:91148105..91150746-chr8:91155344..91157015,2	K562	blood:
38	chr3:73159863..73160626-chr8:91155316..91155835,2	MCF-7	breast:
39	chr3:73158464..73161607-chr8:91155315..91156835,5	K562	blood:
40	chr8:91177486..91179176-chr8:91180628..91182984,2	K562	blood:
41	chr11:62607647..62609221-chr8:91155335..91156835,2	MCF-7	breast:
42	chr17:41400577..41402205-chr8:91155335..91156836,2	K562	blood:
43	chr8:91155035..91157497-chr8:91163156..91166027,2	K562	blood:
44	chr17:41464289..41466075-chr8:91155315..91156816,2	MCF-7	breast:
45	chr8:91152701..91155166-chr8:91157223..91159554,2	K562	blood:
46	chr8:91175219..91178633-chr8:91184019..91187268,3	K562	blood:
47	chr8:91143386..91146044-chr8:91149940..91153117,3	K562	blood:
48	chr8:91169205..91171344-chr8:91178186..91181066,2	K562	blood:
49	chr17:41464201..41467636-chr8:91155335..91156835,3	MCF-7	breast:
50	chr8:91160123..91162835-chr8:91174934..91176685,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223247	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000074211	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000104325	chromatin interactions

Extended variants
information (count: 1058 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:1058 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10504889	chr8:91144872-91144873	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542006275	chr8:91144893-91144894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150823056	chr8:91144915-91144916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377351216	chr8:91144953-91144954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs16903895	chr8:91144996-91144997	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs191026224	chr8:91145020-91145021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115355439	chr8:91145025-91145026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183118339	chr8:91145083-91145084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564198956	chr8:91145090-91145091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529400927	chr8:91145093-91145094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139267625	chr8:91145100-91145101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574665839	chr8:91145106-91145107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561751759	chr8:91145136-91145137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150005000	chr8:91145160-91145161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144298659	chr8:91145185-91145186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370916816	chr8:91145186-91145187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539267940	chr8:91145204-91145205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186741853	chr8:91145211-91145212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551606552	chr8:91145216-91145217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80184067	chr8:91145241-91145242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140106449	chr8:91145244-91145245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535428689	chr8:91145307-91145308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552986471	chr8:91145337-91145338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530010534	chr8:91145352-91145353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574573108	chr8:91145413-91145414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557071975	chr8:91145433-91145434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557042319	chr8:91145451-91145452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373770947	chr8:91145459-91145460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143810819	chr8:91145486-91145487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189543221	chr8:91145511-91145512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540324347	chr8:91145517-91145518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111424521	chr8:91145554-91145555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146860420	chr8:91145562-91145563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545458747	chr8:91145667-91145668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561711296	chr8:91145671-91145672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12542162	chr8:91145685-91145686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs550656604	chr8:91145704-91145705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562575085	chr8:91145705-91145706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10504890	chr8:91145727-91145728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs183312326	chr8:91145737-91145738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542024794	chr8:91145768-91145769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566746109	chr8:91145776-91145777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201448410	chr8:91145787-91145788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546588436	chr8:91145796-91145797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530421355	chr8:91145820-91145821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542165620	chr8:91146013-91146014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568158888	chr8:91146033-91146034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535457553	chr8:91146061-91146062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557005389	chr8:91146140-91146141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563867726	chr8:91146174-91146175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	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
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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91141600-91150400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:91144400-91145000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:91145800-91146800	Enhancers	K562	blood
4	chr8:91152400-91152800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:91152800-91155400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:91155400-91156600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:91156200-91156600	Enhancers	HMEC	breast
8	chr8:91156600-91158400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:91158400-91158600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:91158600-91167600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:91161000-91161400	Enhancers	Left Ventricle	heart
12	chr8:91162800-91163200	Active TSS	Fetal Intestine Small	intestine
13	chr8:91162800-91163600	Active TSS	Fetal Intestine Large	intestine
14	chr8:91163000-91163200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr8:91163200-91176600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:91167400-91170600	Enhancers	HMEC	breast
17	chr8:91167600-91167800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:91167600-91168400	Enhancers	NHEK	skin
19	chr8:91167600-91170400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:91167800-91168600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:91168200-91168800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr8:91168400-91168600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr8:91168400-91168600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:91168800-91169000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:91168800-91172800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr8:91169000-91170000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:91169000-91171600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr8:91169200-91169400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr8:91169800-91172800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr8:91170000-91170200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:91170200-91171000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:91171000-91174400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:91171200-91171400	Enhancers	K562	blood
34	chr8:91171600-91171800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr8:91171600-91172800	Weak transcription	K562	blood
36	chr8:91171800-91172200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:91171800-91172800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr8:91172200-91172600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:91172600-91173800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:91172800-91173000	Enhancers	H9 Cell Line	embryonic stem cell
41	chr8:91172800-91173600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr8:91172800-91173600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:91172800-91173600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr8:91172800-91173800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr8:91172800-91174000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:91172800-91174000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr8:91172800-91174000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr8:91172800-91174200	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr8:91172800-91174400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr8:91172800-91174400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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