Variant report

Variant	nsv462611
Chromosome Location	chr6:1688391-1702106
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:1687898..1689601-chr6:1699469..1701760,2	K562	blood:
2	chr6:1605266..1613695-chr6:1683912..1689235,13	MCF-7	breast:
3	chr6:1687393..1689735-chr6:1723369..1725669,2	MCF-7	breast:
4	chr6:1688857..1691695-chr6:1693539..1695185,2	K562	blood:
5	chr6:1688857..1691695-chr6:1693539..1695185,2	K562	blood:
6	chr6:1687898..1689601-chr6:1699469..1701760,2	K562	blood:
7	chr6:1685631..1688598-chr6:1691274..1692793,2	MCF-7	breast:
8	chr6:1607133..1612092-chr6:1684732..1690668,9	MCF-7	breast:
9	chr6:1686716..1688297-chr6:1699129..1701507,3	MCF-7	breast:
10	chr6:1692499..1695604-chr6:1698340..1700844,3	K562	blood:
11	chr6:1687705..1689318-chr6:1909899..1912443,2	K562	blood:
12	chr6:1640459..1644974-chr6:1686187..1689863,6	MCF-7	breast:
13	chr6:1685631..1688598-chr6:1691274..1692793,2	MCF-7	breast:
14	chr6:1609064..1611202-chr6:1696861..1699392,3	MCF-7	breast:
15	chr6:1692499..1695604-chr6:1698340..1700844,3	K562	blood:
16	chr6:1604178..1605147-chr6:1698461..1699421,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000054598	chromatin interactions

Extended variants
information (count: 559 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:559 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4461777	chr6:1688391-1688392	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529009992	chr6:1688395-1688396	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs549054138	chr6:1688401-1688402	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565637754	chr6:1688403-1688404	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534658008	chr6:1688441-1688442	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs566771545	chr6:1688445-1688446	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs557443851	chr6:1688489-1688490	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534882713	chr6:1688511-1688512	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs4357177	chr6:1688525-1688526	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs374112610	chr6:1688550-1688551	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11756276	chr6:1688613-1688614	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs557140125	chr6:1688652-1688653	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs573848794	chr6:1688654-1688655	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs9405502	chr6:1688701-1688702	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs553090753	chr6:1688707-1688708	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs573239966	chr6:1688752-1688753	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs149874274	chr6:1688756-1688757	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181154666	chr6:1688780-1688781	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs79469774	chr6:1688797-1688798	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs9392319	chr6:1688811-1688812	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs563477832	chr6:1688823-1688824	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs113803354	chr6:1688845-1688846	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs565861763	chr6:1688897-1688898	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs529150873	chr6:1688914-1688915	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs111457692	chr6:1688962-1688963	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs4959145	chr6:1689000-1689001	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs559424374	chr6:1689007-1689008	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs188752582	chr6:1689012-1689013	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs181692522	chr6:1689048-1689049	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs368940147	chr6:1689063-1689064	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs147569876	chr6:1689068-1689069	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113031316	chr6:1689074-1689075	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs368700246	chr6:1689099-1689100	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537350273	chr6:1689153-1689154	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs4959146	chr6:1689166-1689167	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs567610222	chr6:1689183-1689184	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs558895533	chr6:1689204-1689205	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs6913380	chr6:1689232-1689233	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs553270656	chr6:1689248-1689249	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs140399929	chr6:1689296-1689297	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs186215445	chr6:1689299-1689300	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs538726080	chr6:1689355-1689356	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs6913557	chr6:1689363-1689364	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs373041606	chr6:1689380-1689381	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs544616138	chr6:1689414-1689415	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs192067704	chr6:1689444-1689445	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs386696088	chr6:1689456-1689457	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs113895076	chr6:1689457-1689458	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs6913747	chr6:1689458-1689459	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs6930063	chr6:1689476-1689477	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1679400-1693600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr6:1679600-1695600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:1679600-1715600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:1681600-1699200	Weak transcription	Pancreas	Pancrea
5	chr6:1683000-1698600	Weak transcription	Primary T cells from cord blood	blood
6	chr6:1685800-1688400	Enhancers	Lung	lung
7	chr6:1685800-1690000	Enhancers	HMEC	breast
8	chr6:1685800-1690400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:1686400-1693200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:1686600-1700000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:1686600-1700800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:1686800-1688400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr6:1686800-1690000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:1686800-1701600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:1687000-1688600	Weak transcription	Fetal Heart	heart
16	chr6:1687000-1689000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr6:1687000-1689200	Weak transcription	Stomach Mucosa	stomach
18	chr6:1687000-1689200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr6:1687200-1688800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:1687200-1689200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:1687200-1689400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr6:1687400-1690000	Strong transcription	HepG2	liver
23	chr6:1687600-1688600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:1687600-1688800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:1687600-1689200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr6:1687600-1689200	Weak transcription	NHDF-Ad	bronchial
27	chr6:1687800-1688400	Strong transcription	Fetal Intestine Small	intestine
28	chr6:1687800-1689200	Weak transcription	HSMMtube	muscle
29	chr6:1687800-1695800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:1688000-1688400	Genic enhancers	Gastric	stomach
31	chr6:1688000-1688400	Weak transcription	Osteobl	bone
32	chr6:1688000-1689000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:1688000-1695800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr6:1688200-1688600	Weak transcription	NHEK	skin
35	chr6:1688200-1690200	Weak transcription	Spleen	Spleen
36	chr6:1688400-1688600	Enhancers	Gastric	stomach
37	chr6:1688400-1689200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr6:1688400-1689800	Enhancers	Osteobl	bone
39	chr6:1688400-1693200	Weak transcription	Fetal Intestine Small	intestine
40	chr6:1688600-1688800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr6:1688600-1689600	Enhancers	Fetal Heart	heart
42	chr6:1688600-1690000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:1688600-1690200	Enhancers	NHEK	skin
44	chr6:1688600-1706400	Weak transcription	Gastric	stomach
45	chr6:1688800-1690000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:1688800-1690000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:1689000-1689600	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr6:1689000-1690000	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr6:1689000-1690200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:1689200-1689400	Enhancers	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links