Variant report

Variant	nsv611961
Chromosome Location	chr8:115027676-115200723
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:114478442..114479179-chr8:115103168..115103714,3	MCF-7	breast:
2	chr8:115023596..115026093-chr8:115027615..115029686,2	K562	blood:
3	chr3:133848002..133849522-chr8:115073919..115075439,2	K562	blood:
4	chr17:58590060..58590787-chr8:115060352..115060949,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270553	chromatin interactions

Extended variants
information (count: 1764 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1764 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6984130	chr8:115032413-115032414	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370650542	chr8:115032526-115032527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372285160	chr8:115032527-115032528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3220350	chr8:115032528-115032529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74531239	chr8:115032536-115032537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190942202	chr8:115032559-115032560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71287224	chr8:115032560-115032561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576642443	chr8:115032575-115032576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576145600	chr8:115032838-115032839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560591198	chr8:115032841-115032842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532765229	chr8:115032858-115032859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552760205	chr8:115032947-115032948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183276244	chr8:115032977-115032978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544889663	chr8:115032988-115032989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571939703	chr8:115032991-115032992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187439570	chr8:115033023-115033024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568460115	chr8:115033025-115033026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148185465	chr8:115033026-115033027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114579395	chr8:115033104-115033105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141505102	chr8:115033114-115033115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572277007	chr8:115033201-115033202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555931988	chr8:115033303-115033304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4876322	chr8:115033364-115033365	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs183996300	chr8:115037212-115037213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553475374	chr8:115037220-115037221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566887638	chr8:115037222-115037223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372641027	chr8:115037274-115037275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4242561	chr8:115037278-115037279	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558895816	chr8:115037284-115037285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12056873	chr8:115037292-115037293	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs566195595	chr8:115037306-115037307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7840223	chr8:115037357-115037358	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs557534214	chr8:115037364-115037365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141053706	chr8:115037432-115037433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574478141	chr8:115037433-115037434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375396495	chr8:115037470-115037471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559772510	chr8:115037481-115037482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145850401	chr8:115037562-115037563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373717744	chr8:115037563-115037564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199983513	chr8:115037566-115037567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201133601	chr8:115037567-115037568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10092160	chr8:115037577-115037578	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs545569782	chr8:115037654-115037655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545389419	chr8:115037730-115037731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565276232	chr8:115037732-115037733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531219065	chr8:115037738-115037739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117914299	chr8:115037756-115037757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188686956	chr8:115037785-115037786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576722713	chr8:115037803-115037804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4629896	chr8:115037863-115037864	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:102)

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
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115032400-115032600	Enhancers	Pancreas	Pancrea
2	chr8:115032800-115033400	Enhancers	Liver	Liver
3	chr8:115033000-115033400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:115037200-115038000	Enhancers	Dnd41	blood
5	chr8:115038000-115038400	Flanking Active TSS	Dnd41	blood
6	chr8:115038400-115039000	Enhancers	Dnd41	blood
7	chr8:115039000-115040200	ZNF genes & repeats	Dnd41	blood
8	chr8:115040200-115040400	Weak transcription	Dnd41	blood
9	chr8:115040400-115041600	Enhancers	Dnd41	blood
10	chr8:115061000-115061400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:115061000-115061600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr8:115061200-115061600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:115069600-115072000	ZNF genes & repeats	Dnd41	blood
14	chr8:115076600-115077200	ZNF genes & repeats	Dnd41	blood
15	chr8:115077200-115077400	Weak transcription	Dnd41	blood
16	chr8:115077400-115083000	Enhancers	Dnd41	blood
17	chr8:115080600-115081200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr8:115080600-115081400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:115080800-115081200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:115080800-115081400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:115081200-115081400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:115081200-115086400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:115081400-115086400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:115081400-115089200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:115083000-115084600	Weak transcription	Dnd41	blood
26	chr8:115084600-115091000	Enhancers	Dnd41	blood
27	chr8:115085600-115087800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:115086400-115086800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:115086400-115087000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr8:115086800-115089000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:115087000-115089200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr8:115087400-115088200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:115087600-115087800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:115087600-115089800	Enhancers	Primary T cells from cord blood	blood
35	chr8:115088200-115089200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:115089000-115089800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:115089200-115089600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:115089200-115089600	Enhancers	Primary hematopoietic stem cells	blood
39	chr8:115089200-115089600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr8:115089200-115089800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:115089600-115090000	Enhancers	Fetal Thymus	thymus
42	chr8:115091000-115096200	Weak transcription	Dnd41	blood
43	chr8:115096000-115096800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr8:115096200-115097600	Enhancers	Dnd41	blood
45	chr8:115096400-115097000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr8:115096800-115097400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:115097600-115098000	Weak transcription	Dnd41	blood
48	chr8:115098000-115098800	Enhancers	Dnd41	blood
49	chr8:115098800-115102200	Weak transcription	Dnd41	blood
50	chr8:115102200-115103800	Enhancers	Dnd41	blood

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