Variant report

Variant	nsv891347
Chromosome Location	chr8:115041135-115118818
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:58590060..58590787-chr8:115060352..115060949,2	MCF-7	breast:
2	chr3:133848002..133849522-chr8:115073919..115075439,2	K562	blood:
3	chr8:114478442..114479179-chr8:115103168..115103714,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270553	chromatin interactions

Extended variants
information (count: 1411 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1411 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6993921	chr8:115041135-115041136	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192978427	chr8:115041146-115041147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544011807	chr8:115041148-115041149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184233656	chr8:115041151-115041152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577934254	chr8:115041159-115041160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139760031	chr8:115041189-115041190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564520753	chr8:115041204-115041205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542503506	chr8:115041235-115041236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62540691	chr8:115041265-115041266	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs189350614	chr8:115041296-115041297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376329480	chr8:115041299-115041300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147445605	chr8:115041309-115041310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574040316	chr8:115041337-115041338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139885316	chr8:115041350-115041351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528181043	chr8:115041352-115041353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551469212	chr8:115041355-115041356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369331272	chr8:115041405-115041406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7461748	chr8:115041454-115041455	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530480671	chr8:115041494-115041495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550216880	chr8:115041516-115041517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570319575	chr8:115041531-115041532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150001352	chr8:115041536-115041537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9283948	chr8:115060355-115060356	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs539328604	chr8:115060359-115060360	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs186494704	chr8:115060360-115060361	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs143247764	chr8:115060405-115060406	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs35294800	chr8:115060415-115060416	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538468306	chr8:115060448-115060449	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs148315309	chr8:115060469-115060470	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs551783795	chr8:115060473-115060474	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201340637	chr8:115060501-115060502	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs191383472	chr8:115060535-115060536	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs183831634	chr8:115060561-115060562	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs530718711	chr8:115060635-115060636	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs530625368	chr8:115060651-115060652	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs10113371	chr8:115060723-115060724	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs567390686	chr8:115060783-115060784	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs187936611	chr8:115060795-115060796	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs546318824	chr8:115060838-115060839	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566216544	chr8:115060855-115060856	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs570433120	chr8:115060891-115060892	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs578081465	chr8:115060899-115060900	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs368013056	chr8:115060911-115060912	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs75031054	chr8:115060921-115060922	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs535066696	chr8:115060932-115060933	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs537351726	chr8:115061005-115061006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141471907	chr8:115061034-115061035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112788275	chr8:115061037-115061038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532745059	chr8:115061097-115061098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574197870	chr8:115061120-115061121	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115040400-115041600	Enhancers	Dnd41	blood
2	chr8:115061000-115061400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr8:115061000-115061600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr8:115061200-115061600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:115069600-115072000	ZNF genes & repeats	Dnd41	blood
6	chr8:115076600-115077200	ZNF genes & repeats	Dnd41	blood
7	chr8:115077200-115077400	Weak transcription	Dnd41	blood
8	chr8:115077400-115083000	Enhancers	Dnd41	blood
9	chr8:115080600-115081200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr8:115080600-115081400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:115080800-115081200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:115080800-115081400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:115081200-115081400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:115081200-115086400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:115081400-115086400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:115081400-115089200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:115083000-115084600	Weak transcription	Dnd41	blood
18	chr8:115084600-115091000	Enhancers	Dnd41	blood
19	chr8:115085600-115087800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:115086400-115086800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:115086400-115087000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:115086800-115089000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:115087000-115089200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:115087400-115088200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:115087600-115087800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:115087600-115089800	Enhancers	Primary T cells from cord blood	blood
27	chr8:115088200-115089200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:115089000-115089800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:115089200-115089600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:115089200-115089600	Enhancers	Primary hematopoietic stem cells	blood
31	chr8:115089200-115089600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr8:115089200-115089800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:115089600-115090000	Enhancers	Fetal Thymus	thymus
34	chr8:115091000-115096200	Weak transcription	Dnd41	blood
35	chr8:115096000-115096800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:115096200-115097600	Enhancers	Dnd41	blood
37	chr8:115096400-115097000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr8:115096800-115097400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:115097600-115098000	Weak transcription	Dnd41	blood
40	chr8:115098000-115098800	Enhancers	Dnd41	blood
41	chr8:115098800-115102200	Weak transcription	Dnd41	blood
42	chr8:115102200-115103800	Enhancers	Dnd41	blood
43	chr8:115103400-115103600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:115103800-115104200	Weak transcription	Dnd41	blood
45	chr8:115104200-115105000	Enhancers	Dnd41	blood
46	chr8:115105200-115105600	Enhancers	Hela-S3	cervix
47	chr8:115105400-115105800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:115105400-115106000	Enhancers	NH-A	brain
49	chr8:115109000-115110000	Enhancers	Dnd41	blood
50	chr8:115112600-115112800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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