Variant report

Variant	nsv528663
Chromosome Location	chr8:6279438-6291485
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:6286039..6288419-chr8:6293741..6296990,3	K562	blood:
2	chr8:6280706..6282253-chr8:6565976..6568022,2	K562	blood:
3	chr8:6286384..6290104-chr8:6563339..6566818,4	MCF-7	breast:
4	chr8:6281302..6282067-chr8:6658057..6658859,2	MCF-7	breast:
5	chr8:6280960..6282945-chr8:6426818..6429637,2	K562	blood:
6	chr8:6281135..6282131-chr8:6429461..6430416,3	K562	blood:
7	chr8:6280318..6283443-chr8:6285224..6287821,3	MCF-7	breast:
8	chr8:6277995..6281670-chr8:6564311..6568348,3	MCF-7	breast:
9	chr8:6282319..6282937-chr8:6658301..6658907,2	MCF-7	breast:
10	chr8:6281660..6282170-chr8:6637148..6637690,2	MCF-7	breast:
11	chr8:6285374..6287527-chr8:6566715..6569546,2	K562	blood:
12	chr8:6282837..6283344-chr8:6657975..6658871,2	K562	blood:
13	chr8:6262451..6265274-chr8:6277590..6279636,2	MCF-7	breast:
14	chr8:6275765..6277346-chr8:6279948..6281566,2	K562	blood:
15	chr8:6281176..6281768-chr8:6657921..6658559,2	K562	blood:
16	chr8:6281170..6282061-chr8:6636804..6637878,7	K562	blood:
17	chr8:6283795..6285745-chr8:6287831..6290125,2	K562	blood:
18	chr8:6264145..6266520-chr8:6281324..6283294,2	K562	blood:
19	chr8:6282250..6282973-chr8:6539904..6540599,2	MCF-7	breast:
20	chr8:6285464..6288077-chr8:6414656..6417304,2	K562	blood:
21	chr8:6280717..6283066-chr8:6285737..6287533,2	K562	blood:
22	chr8:6269409..6272361-chr8:6283113..6285800,2	K562	blood:
23	chr8:6281453..6284315-chr8:6428967..6430752,3	K562	blood:
24	chr8:6286838..6288405-chr8:6317627..6319306,2	K562	blood:
25	chr8:6280717..6283066-chr8:6285737..6287533,2	K562	blood:
26	chr8:6283795..6285745-chr8:6287831..6290125,2	K562	blood:
27	chr8:6286159..6289308-chr8:6294471..6296990,3	K562	blood:
28	chr8:6280318..6283443-chr8:6285224..6287821,3	MCF-7	breast:
29	chr8:6282447..6283252-chr8:6539685..6540602,2	K562	blood:
30	chr8:6281436..6282039-chr8:6539712..6540563,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147316	chromatin interactions
ENSG00000246089	chromatin interactions
ENSG00000155189	chromatin interactions
ENSG00000249898	chromatin interactions

Extended variants
information (count: 767 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:767 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17076812	chr8:6279438-6279439	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562571440	chr8:6279447-6279448	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs79205281	chr8:6279450-6279451	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs113144022	chr8:6279478-6279479	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs540193247	chr8:6279495-6279496	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs560013244	chr8:6279502-6279503	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs1968586	chr8:6279511-6279512	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs151061382	chr8:6279523-6279524	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs562665212	chr8:6279544-6279545	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs190015902	chr8:6279552-6279553	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs567810515	chr8:6279560-6279561	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs548510228	chr8:6279585-6279586	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs7844807	chr8:6279672-6279673	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs527699094	chr8:6279737-6279738	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs547738793	chr8:6279739-6279740	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs570882620	chr8:6279742-6279743	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs113485962	chr8:6279751-6279752	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs144955950	chr8:6279754-6279755	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs550147157	chr8:6279765-6279766	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs569910298	chr8:6279779-6279780	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs182952350	chr8:6279809-6279810	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs555649553	chr8:6279811-6279812	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs2916769	chr8:6279820-6279821	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs533581473	chr8:6279821-6279822	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs553714838	chr8:6279838-6279839	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs200270533	chr8:6279862-6279863	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs74745797	chr8:6279869-6279870	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs576908189	chr8:6279895-6279896	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs557239036	chr8:6279913-6279914	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs1966818	chr8:6279958-6279959	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs570043914	chr8:6280002-6280003	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs560382185	chr8:6280009-6280010	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs576315605	chr8:6280015-6280016	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs59040810	chr8:6280016-6280017	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs1968585	chr8:6280018-6280019	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs138820933	chr8:6280044-6280045	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs559006804	chr8:6280046-6280047	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs541099300	chr8:6280056-6280057	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs564495968	chr8:6280067-6280068	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs533310316	chr8:6280160-6280161	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs577826434	chr8:6280174-6280175	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs372372031	chr8:6280193-6280194	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs376937877	chr8:6280200-6280201	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs140545109	chr8:6280206-6280207	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs533846152	chr8:6280223-6280224	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs553927568	chr8:6280234-6280235	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs186829796	chr8:6280244-6280245	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs566067857	chr8:6280249-6280250	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs374711860	chr8:6280272-6280273	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs573791319	chr8:6280278-6280279	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Autism	20685689	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6265000-6286600	Weak transcription	Small Intestine	intestine
2	chr8:6265000-6339200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:6265200-6281800	Weak transcription	Right Atrium	heart
4	chr8:6265200-6281800	Weak transcription	Right Ventricle	heart
5	chr8:6265200-6282600	Weak transcription	Colonic Mucosa	Colon
6	chr8:6265200-6302200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:6265400-6287400	Weak transcription	Psoas Muscle	Psoas
8	chr8:6265400-6303800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:6265600-6290000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:6267600-6291400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:6267600-6302400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:6268200-6282800	Weak transcription	NHLF	lung
13	chr8:6268200-6287400	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:6268400-6282800	Weak transcription	Fetal Kidney	kidney
15	chr8:6268800-6291600	Weak transcription	HSMMtube	muscle
16	chr8:6269400-6281600	Weak transcription	Fetal Heart	heart
17	chr8:6269400-6281800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:6269600-6280200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:6269600-6282800	Weak transcription	HSMM	muscle
20	chr8:6269800-6281400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:6269800-6281600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:6269800-6281800	Weak transcription	NHDF-Ad	bronchial
23	chr8:6269800-6286600	Weak transcription	Pancreas	Pancrea
24	chr8:6269800-6286600	Weak transcription	Stomach Mucosa	stomach
25	chr8:6269800-6290200	Weak transcription	NH-A	brain
26	chr8:6270200-6295000	Weak transcription	Fetal Brain Female	brain
27	chr8:6270600-6282600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr8:6270600-6283000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr8:6271000-6282600	Weak transcription	Brain Anterior Caudate	brain
30	chr8:6271200-6279600	Strong transcription	Fetal Stomach	stomach
31	chr8:6272600-6279600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:6272800-6282400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr8:6273000-6281800	Weak transcription	Left Ventricle	heart
34	chr8:6273000-6286600	Weak transcription	Ovary	ovary
35	chr8:6273200-6291400	Weak transcription	Aorta	Aorta
36	chr8:6273200-6291600	Weak transcription	Esophagus	oesophagus
37	chr8:6273400-6281800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr8:6273400-6286400	Weak transcription	Gastric	stomach
39	chr8:6273600-6281800	Weak transcription	Placenta	Placenta
40	chr8:6273600-6282000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr8:6273600-6302800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:6274000-6281400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:6274000-6281400	Weak transcription	Brain Substantia Nigra	brain
44	chr8:6274000-6282200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:6274200-6280000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr8:6274200-6281800	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:6274200-6289400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr8:6274200-6290400	Weak transcription	HMEC	breast
49	chr8:6274400-6282800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:6274400-6300200	Weak transcription	H9 Cell Line	embryonic stem cell

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