Variant report

Variant	nsv818643
Chromosome Location	chr8:91153308-91212148
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:119)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:119 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr8:91169205..91171344-chr8:91178186..91181066,2	K562	blood:
2	chr8:91200381..91201934-chr8:91204615..91207445,3	K562	blood:
3	chr8:91193596..91196582-chr8:91200011..91201961,3	K562	blood:
4	chr8:91152980..91155385-chr8:91174154..91176618,2	K562	blood:
5	chr8:91014065..91015805-chr8:91204916..91207576,2	MCF-7	breast:
6	chr8:91177407..91179281-chr8:91196128..91199121,2	MCF-7	breast:
7	chr11:62608623..62609195-chr8:91155314..91155835,10	HCT-116	colon:
8	chr8:91196038..91198632-chr8:91205123..91206870,2	K562	blood:
9	chr1:160080964..160082487-chr8:91155315..91156836,2	K562	blood:
10	chr10:103124108..103124630-chr8:91155315..91155836,3	HCT-116	colon:
11	chr8:91180611..91183081-chr8:91185061..91187294,2	K562	blood:
12	chr8:91209932..91211490-chr8:91214820..91216543,2	MCF-7	breast:
13	chr8:91186935..91188480-chr8:91190108..91192578,2	MCF-7	breast:
14	chr8:91152815..91155655-chr8:91173130..91176716,3	K562	blood:
15	chr8:91152815..91155655-chr8:91173130..91176716,3	K562	blood:
16	chr8:91175219..91178633-chr8:91184019..91187268,3	K562	blood:
17	chr8:91157239..91159941-chr8:91180343..91182427,2	K562	blood:
18	chr8:91176914..91178549-chr8:91234676..91237074,2	K562	blood:
19	chr3:73159863..73160626-chr8:91155316..91155835,2	MCF-7	breast:
20	chr8:91186436..91188660-chr8:91289229..91291075,2	K562	blood:
21	chr8:91134530..91136835-chr8:91178960..91180753,2	K562	blood:
22	chr8:91196434..91198632-chr8:91204961..91206870,2	K562	blood:
23	chr3:73159952..73160589-chr8:91154816..91155815,2	Hela-S3	cervix:
24	chr8:91190260..91192251-chr8:91205033..91207499,2	K562	blood:
25	chr8:91160123..91162835-chr8:91174934..91176685,2	K562	blood:
26	chr3:73159863..73160591-chr8:91155335..91155835,3	MCF-7	breast:
27	chr8:91193596..91196355-chr8:91200011..91201961,2	K562	blood:
28	chr8:91184470..91187262-chr8:91242748..91244864,2	K562	blood:
29	chr8:91180978..91183657-chr8:91197108..91199909,3	K562	blood:
30	chr8:91175219..91178633-chr8:91184019..91187268,3	K562	blood:
31	chr8:91180601..91182889-chr8:91210829..91212948,2	K562	blood:
32	chr8:91179428..91181917-chr8:91237030..91238602,2	K562	blood:
33	chr8:91204703..91206737-chr8:91244479..91246995,2	K562	blood:
34	chr8:91204870..91208091-chr8:91210126..91212391,3	K562	blood:
35	chr8:91185841..91188123-chr8:91204110..91206951,2	MCF-7	breast:
36	chr8:91152701..91155166-chr8:91157223..91159554,2	K562	blood:
37	chr8:91197950..91200166-chr8:91210110..91212853,2	K562	blood:
38	chr3:73160015..73161608-chr8:91155335..91156836,2	K562	blood:
39	chr8:91179428..91181917-chr8:91237030..91239652,3	K562	blood:
40	chr8:91177486..91179176-chr8:91180628..91182984,2	K562	blood:
41	chr8:91013417..91015072-chr8:91160846..91162367,2	MCF-7	breast:
42	chr8:91204194..91205708-chr8:91228798..91230324,2	K562	blood:
43	chr8:91210550..91212657-chr8:91237751..91239928,2	K562	blood:
44	chr8:91177720..91183484-chr8:91189779..91192790,4	K562	blood:
45	chr8:91155035..91157497-chr8:91163156..91166027,2	K562	blood:
46	chr11:62608628..62609154-chr8:91155316..91155836,3	MCF-7	breast:
47	chr8:91139396..91140972-chr8:91161545..91163760,2	K562	blood:
48	chr8:91208628..91210312-chr8:91239266..91240795,2	K562	blood:
49	chr8:91169205..91171344-chr8:91178186..91181066,2	K562	blood:
50	chr8:91180601..91182889-chr8:91210829..91212948,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188825	chromatin interactions
ENSG00000074211	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000253394	chromatin interactions
ENSG00000104325	chromatin interactions
ENSG00000104320	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000233016	chromatin interactions

Extended variants
information (count: 2201 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:2201 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10113507	chr8:91153308-91153309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185861596	chr8:91153320-91153321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201620770	chr8:91153380-91153381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566090401	chr8:91153398-91153399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573439706	chr8:91153457-91153458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189427781	chr8:91153473-91153474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551341344	chr8:91153566-91153567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145895352	chr8:91153593-91153594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373207905	chr8:91153621-91153622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540699522	chr8:91153638-91153639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113502937	chr8:91153650-91153651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2103432	chr8:91153670-91153671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs182315128	chr8:91153715-91153716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568197152	chr8:91153786-91153787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535613242	chr8:91153790-91153791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9720250	chr8:91153854-91153855	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs71560253	chr8:91153859-91153860	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2103441	chr8:91153887-91153888	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186007293	chr8:91153895-91153896	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190911456	chr8:91153897-91153898	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs58647770	chr8:91153902-91153903	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs62530302	chr8:91153946-91153947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs2103433	chr8:91153954-91153955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs62530303	chr8:91153987-91153988	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs9721065	chr8:91154018-91154019	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs4993081	chr8:91154119-91154120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs558454617	chr8:91154179-91154180	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs573613252	chr8:91154251-91154252	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs372332218	chr8:91154274-91154275	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs566311360	chr8:91154279-91154280	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs533713370	chr8:91154343-91154344	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs533746633	chr8:91154379-91154380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs555449170	chr8:91154408-91154409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs190205082	chr8:91154454-91154455	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs543931536	chr8:91154472-91154473	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs150364391	chr8:91154512-91154513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs183192647	chr8:91154528-91154529	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs112095885	chr8:91154585-91154586	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs544821032	chr8:91154621-91154622	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs138093868	chr8:91154639-91154640	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs527611145	chr8:91154655-91154656	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs16903948	chr8:91154742-91154743	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs561890453	chr8:91154744-91154745	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs149547824	chr8:91154758-91154759	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs143237611	chr8:91154824-91154825	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs115310725	chr8:91154848-91154849	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs567211594	chr8:91154865-91154866	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs187470380	chr8:91154879-91154880	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs567167703	chr8:91155038-91155039	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs534539530	chr8:91155055-91155056	Weak transcription	Chromatin interactive region	2 gene(s)	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:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91152800-91155400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:91155400-91156600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:91156200-91156600	Enhancers	HMEC	breast
4	chr8:91156600-91158400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:91158400-91158600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:91158600-91167600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:91161000-91161400	Enhancers	Left Ventricle	heart
8	chr8:91162800-91163200	Active TSS	Fetal Intestine Small	intestine
9	chr8:91162800-91163600	Active TSS	Fetal Intestine Large	intestine
10	chr8:91163000-91163200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr8:91163200-91176600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:91167400-91170600	Enhancers	HMEC	breast
13	chr8:91167600-91167800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:91167600-91168400	Enhancers	NHEK	skin
15	chr8:91167600-91170400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:91167800-91168600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:91168200-91168800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr8:91168400-91168600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr8:91168400-91168600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:91168800-91169000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:91168800-91172800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr8:91169000-91170000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:91169000-91171600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:91169200-91169400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr8:91169800-91172800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:91170000-91170200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:91170200-91171000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:91171000-91174400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:91171200-91171400	Enhancers	K562	blood
30	chr8:91171600-91171800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr8:91171600-91172800	Weak transcription	K562	blood
32	chr8:91171800-91172200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:91171800-91172800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:91172200-91172600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:91172600-91173800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:91172800-91173000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr8:91172800-91173600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr8:91172800-91173600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:91172800-91173600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr8:91172800-91173800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr8:91172800-91174000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:91172800-91174000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr8:91172800-91174000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr8:91172800-91174200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr8:91172800-91174400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr8:91172800-91174400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr8:91172800-91174400	Enhancers	K562	blood
48	chr8:91172800-91174600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:91173000-91176400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr8:91173200-91174600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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