Variant report

Variant	nsv435841
Chromosome Location	chr6:57295036-57301218
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:57296504..57298287-chr6:57300033..57301535,2	K562	blood:
2	chr6:57293162..57295571-chr6:57300739..57302981,3	K562	blood:
3	chr6:57297690..57300107-chr6:57303137..57305465,2	MCF-7	breast:
4	chr6:57296504..57298287-chr6:57300033..57301535,2	K562	blood:
5	chr6:57293162..57295571-chr6:57300739..57302981,3	K562	blood:
6	chr6:57297598..57300578-chr6:57301764..57305557,4	K562	blood:

Extended variants
information (count: 317 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527507372	chr6:57295052-57295053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113336194	chr6:57295058-57295059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12196131	chr6:57295068-57295069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9475948	chr6:57295094-57295095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113008704	chr6:57295114-57295115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11965966	chr6:57295169-57295170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75099558	chr6:57295172-57295173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538217732	chr6:57295175-57295176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4715688	chr6:57295191-57295192	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs73749594	chr6:57295195-57295196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550205776	chr6:57295196-57295197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75428242	chr6:57295212-57295213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539332267	chr6:57295221-57295222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144882491	chr6:57295227-57295228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144681511	chr6:57295245-57295246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71687266	chr6:57295246-57295247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74293851	chr6:57295247-57295248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76692066	chr6:57295262-57295263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566645097	chr6:57295268-57295269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72873536	chr6:57295273-57295274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554497382	chr6:57295291-57295292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572527833	chr6:57295312-57295313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143063022	chr6:57295313-57295314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79772973	chr6:57295349-57295350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78552113	chr6:57295351-57295352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573404703	chr6:57295356-57295357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183323498	chr6:57295358-57295359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78209665	chr6:57295408-57295409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562132937	chr6:57295409-57295410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs386701524	chr6:57295415-57295416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72873537	chr6:57295417-57295418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560432686	chr6:57295464-57295465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74649648	chr6:57295484-57295485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142493139	chr6:57295495-57295496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75288996	chr6:57295496-57295497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112832110	chr6:57295519-57295520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72873541	chr6:57295554-57295555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74293852	chr6:57295592-57295593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9396297	chr6:57295595-57295596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549182550	chr6:57295607-57295608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs5023871	chr6:57295617-57295618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561179440	chr6:57295624-57295625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs5023872	chr6:57295638-57295639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550340531	chr6:57295639-57295640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs5023873	chr6:57295641-57295642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35490185	chr6:57295648-57295649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539065887	chr6:57295713-57295714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547737408	chr6:57295716-57295717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570649243	chr6:57295730-57295731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536395866	chr6:57295740-57295741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Intellectual disability	21811512	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57281600-57297000	Weak transcription	Primary B cells from cord blood	blood
2	chr6:57281600-57297600	Weak transcription	Dnd41	blood
3	chr6:57283000-57295800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:57283400-57296400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr6:57284400-57303600	Weak transcription	Pancreas	Pancrea
6	chr6:57284600-57295800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:57284600-57296200	Weak transcription	HSMM	muscle
8	chr6:57286600-57299600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:57286600-57310200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:57288600-57297600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:57288800-57295800	Weak transcription	NHLF	lung
12	chr6:57288800-57303400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:57289000-57310000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr6:57289200-57295200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:57289400-57305400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:57291200-57296400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:57291600-57305600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr6:57292400-57301800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:57293600-57296400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr6:57294000-57301200	Enhancers	NHDF-Ad	bronchial
21	chr6:57294200-57296600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:57294200-57301800	Weak transcription	Aorta	Aorta
23	chr6:57294400-57296200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr6:57294400-57296200	Weak transcription	Ovary	ovary
25	chr6:57294400-57296600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:57294400-57301800	Weak transcription	Left Ventricle	heart
27	chr6:57294600-57295200	Enhancers	Osteobl	bone
28	chr6:57294600-57295400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:57294600-57296200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:57294800-57295800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:57295000-57296200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr6:57295000-57296200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:57295000-57296200	Weak transcription	Psoas Muscle	Psoas
34	chr6:57295000-57296600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr6:57295200-57295600	Weak transcription	Osteobl	bone
36	chr6:57295200-57296600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:57295400-57295800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:57295600-57299200	Enhancers	Osteobl	bone
39	chr6:57295800-57296600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr6:57295800-57296800	Enhancers	HUVEC	blood vessel
41	chr6:57295800-57297800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:57295800-57298400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:57295800-57298800	Enhancers	Primary hematopoietic stem cells	blood
44	chr6:57295800-57299200	Enhancers	NHLF	lung
45	chr6:57296000-57296800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:57296000-57296800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:57296000-57298800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr6:57296200-57296400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr6:57296200-57296400	Enhancers	Psoas Muscle	Psoas
50	chr6:57296200-57296400	Enhancers	Small Intestine	intestine

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