Variant report

Variant	nsv610008
Chromosome Location	chr8:6709095-6715057
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:6708356..6710254-chr8:6712721..6714640,2	MCF-7	breast:
2	chr8:6708356..6710254-chr8:6712721..6714640,2	MCF-7	breast:
3	chr8:6708463..6711490-chr8:6770030..6772740,3	MCF-7	breast:
4	chr8:6714335..6716270-chr8:6770268..6773044,2	MCF-7	breast:
5	chr8:6712654..6715531-chr8:6716503..6718496,2	K562	blood:

Extended variants
information (count: 497 )
Associated
traits (count: 134 )

Variant overlapped rSNPs/rCNVs (count:497 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11989153	chr8:6709095-6709096	ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566107579	chr8:6709118-6709119	ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182627134	chr8:6709119-6709120	ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557838452	chr8:6709139-6709140	ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570076726	chr8:6709140-6709141	ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538656921	chr8:6709142-6709143	ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112198462	chr8:6709143-6709144	ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191296737	chr8:6709148-6709149	ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557989533	chr8:6709161-6709162	ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75754459	chr8:6709170-6709171	ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562169348	chr8:6709172-6709173	ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182929064	chr8:6709177-6709178	ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114497092	chr8:6709178-6709179	ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544479991	chr8:6709200-6709201	ZNF genes & repeats Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374269866	chr8:6709204-6709205	Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs527355286	chr8:6709221-6709222	Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs2738061	chr8:6709227-6709228	Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs145342549	chr8:6709228-6709229	Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs533265094	chr8:6709247-6709248	Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs114035145	chr8:6709248-6709249	Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs550871121	chr8:6709277-6709278	Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs529077098	chr8:6709279-6709280	Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs540399879	chr8:6709290-6709291	Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs566199819	chr8:6709317-6709318	Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs113328025	chr8:6709320-6709321	Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs566354153	chr8:6709322-6709323	Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs398007001	chr8:6709341-6709342	Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs535073209	chr8:6709343-6709344	Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs149028391	chr8:6709376-6709377	Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs571542421	chr8:6709380-6709381	Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs537796906	chr8:6709388-6709389	Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs557352036	chr8:6709417-6709418	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143007681	chr8:6709418-6709419	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187619712	chr8:6709424-6709425	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536461064	chr8:6709441-6709442	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115714750	chr8:6709444-6709445	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571813261	chr8:6709448-6709449	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148199026	chr8:6709449-6709450	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542792134	chr8:6709455-6709456	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144047367	chr8:6709469-6709470	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116183824	chr8:6709474-6709475	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192154342	chr8:6709483-6709484	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563558996	chr8:6709485-6709486	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183394390	chr8:6709489-6709490	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549201506	chr8:6709490-6709491	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146915917	chr8:6709509-6709510	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528624997	chr8:6709512-6709513	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377383233	chr8:6709515-6709516	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551579550	chr8:6709522-6709523	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79521413	chr8:6709535-6709536	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:134)

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
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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6699000-6712600	Weak transcription	Right Atrium	heart
2	chr8:6699400-6709400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr8:6699600-6709600	Weak transcription	Fetal Intestine Large	intestine
4	chr8:6699600-6710000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:6699600-6721600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:6699800-6710400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:6707600-6710800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:6707600-6711000	Enhancers	Placenta	Placenta
9	chr8:6708000-6709200	Strong transcription	Fetal Muscle Trunk	muscle
10	chr8:6708200-6709200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr8:6708200-6709200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:6708200-6709200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
13	chr8:6708200-6709200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:6708200-6709200	ZNF genes & repeats	Fetal Kidney	kidney
15	chr8:6708200-6709400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:6708400-6709400	Transcr. at gene 5' and 3'	Dnd41	blood
17	chr8:6708400-6709800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:6708600-6709200	Genic enhancers	Gastric	stomach
19	chr8:6708600-6709400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:6708600-6710000	Enhancers	Esophagus	oesophagus
21	chr8:6708800-6709400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:6708800-6709400	Transcr. at gene 5' and 3'	Fetal Lung	lung
23	chr8:6708800-6709800	Weak transcription	Adipose Nuclei	Adipose
24	chr8:6708800-6721200	Weak transcription	Fetal Stomach	stomach
25	chr8:6709000-6710200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr8:6709000-6711000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr8:6709000-6711000	Enhancers	Pancreas	Pancrea
28	chr8:6709000-6712200	Enhancers	Fetal Thymus	thymus
29	chr8:6709000-6721200	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:6709200-6709400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:6709200-6709600	Enhancers	Stomach Mucosa	stomach
32	chr8:6709200-6709800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr8:6709200-6710000	Weak transcription	Fetal Kidney	kidney
34	chr8:6709200-6710200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr8:6709200-6710200	Enhancers	A549	lung
36	chr8:6709200-6710400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:6709200-6713000	Enhancers	Gastric	stomach
38	chr8:6709400-6709600	Genic enhancers	Dnd41	blood
39	chr8:6709400-6710000	Weak transcription	Fetal Lung	lung
40	chr8:6709400-6710400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:6709400-6711200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:6709400-6717400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:6709400-6717400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:6709600-6709800	Flanking Active TSS	Stomach Mucosa	stomach
45	chr8:6709600-6709800	Enhancers	Dnd41	blood
46	chr8:6709600-6710800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:6709600-6710800	Enhancers	Placenta Amnion	Placenta Amnion
48	chr8:6709600-6710800	Enhancers	HMEC	breast
49	chr8:6709600-6711000	Enhancers	NHEK	skin
50	chr8:6709600-6711600	Enhancers	Fetal Intestine Large	intestine

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