Variant report

Variant	nsv967581
Chromosome Location	chr8:39917856-39928866
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:39912165..39914251-chr8:39916476..39919468,4	MCF-7	breast:
2	chr8:39928502..39931425-chr8:39937811..39939338,2	MCF-7	breast:

Extended variants
information (count: 505 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:505 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571248583	chr8:39917881-39917882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186959519	chr8:39917902-39917903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547327773	chr8:39917939-39917940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532944152	chr8:39917964-39917965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536040256	chr8:39918011-39918012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556195534	chr8:39918042-39918043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551048947	chr8:39918052-39918053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576472484	chr8:39918064-39918065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35728578	chr8:39918080-39918081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538997849	chr8:39918101-39918102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558008653	chr8:39918113-39918114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556178074	chr8:39918118-39918119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139725720	chr8:39918123-39918124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191417034	chr8:39918175-39918176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555351001	chr8:39918216-39918217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575040605	chr8:39918246-39918247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373258678	chr8:39918250-39918251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574524059	chr8:39918260-39918261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374557076	chr8:39918272-39918273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531284975	chr8:39918343-39918344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545123287	chr8:39918349-39918350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183125459	chr8:39918420-39918421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145071627	chr8:39918441-39918442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547241051	chr8:39918474-39918475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567230516	chr8:39918503-39918504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529802326	chr8:39918513-39918514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150925294	chr8:39918539-39918540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571210050	chr8:39918555-39918556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538744183	chr8:39918557-39918558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559051286	chr8:39918588-39918589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565938209	chr8:39918589-39918590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535021105	chr8:39918592-39918593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555263058	chr8:39918597-39918598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140794793	chr8:39918599-39918600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188317306	chr8:39918650-39918651	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs377389383	chr8:39918701-39918702	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs149696789	chr8:39918729-39918730	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs2981140	chr8:39918737-39918738	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs544773847	chr8:39918757-39918758	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs375913283	chr8:39918758-39918759	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs554973776	chr8:39918767-39918768	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs78013262	chr8:39918774-39918775	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs527250923	chr8:39918827-39918828	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs145498023	chr8:39918835-39918836	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs560819309	chr8:39918843-39918844	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs529919624	chr8:39918871-39918872	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs192844778	chr8:39918967-39918968	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs550086626	chr8:39918971-39918972	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs1481065	chr8:39918981-39918982	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs532385606	chr8:39919002-39919003	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	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
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	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
Colorectal cancer	16272173	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
Melanoma	18172304	CNVD
Medulloblastoma	21979893	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
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Medulloblastoma	19270706	CNVD
Cancer	20164919	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21045282	CNVD
Lung cancer	17925434	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39907600-39919000	Enhancers	HepG2	liver
2	chr8:39912800-39919800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:39913000-39939000	Weak transcription	Right Atrium	heart
4	chr8:39913400-39919400	Weak transcription	Aorta	Aorta
5	chr8:39914200-39918600	Weak transcription	Liver	Liver
6	chr8:39915200-39920800	Enhancers	Stomach Mucosa	stomach
7	chr8:39916400-39918400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:39916400-39918400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:39916400-39918400	Enhancers	Brain Angular Gyrus	brain
10	chr8:39916400-39918400	Enhancers	HUVEC	blood vessel
11	chr8:39916400-39918800	Enhancers	Small Intestine	intestine
12	chr8:39916400-39919200	Enhancers	Fetal Intestine Small	intestine
13	chr8:39916400-39919400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:39916400-39919400	Enhancers	Brain Hippocampus Middle	brain
15	chr8:39916400-39919400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr8:39916400-39919400	Enhancers	Brain Substantia Nigra	brain
17	chr8:39916400-39919400	Enhancers	Esophagus	oesophagus
18	chr8:39916400-39919800	Enhancers	Colonic Mucosa	Colon
19	chr8:39916400-39919800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr8:39916400-39920000	Enhancers	Duodenum Mucosa	Duodenum
21	chr8:39916400-39920000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr8:39916600-39918600	Weak transcription	Gastric	stomach
23	chr8:39916600-39919000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:39916600-39920000	Enhancers	Fetal Intestine Large	intestine
25	chr8:39916800-39918400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:39916800-39918600	Enhancers	Brain Anterior Caudate	brain
27	chr8:39916800-39919000	Enhancers	Stomach Smooth Muscle	stomach
28	chr8:39916800-39919400	Enhancers	Brain Cingulate Gyrus	brain
29	chr8:39917000-39918200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:39917200-39918200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:39917400-39918200	Enhancers	NHLF	lung
32	chr8:39917400-39918600	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr8:39917600-39918200	Enhancers	Colon Smooth Muscle	Colon
34	chr8:39917600-39918600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr8:39917600-39919000	Enhancers	Hela-S3	cervix
36	chr8:39917600-39920000	Enhancers	Pancreas	Pancrea
37	chr8:39917800-39918400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:39917800-39918600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:39917800-39918600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr8:39917800-39918800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr8:39917800-39918800	Enhancers	A549	lung
42	chr8:39917800-39919200	Weak transcription	Lung	lung
43	chr8:39918200-39918800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:39918600-39918800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr8:39918600-39919000	Active TSS	Rectal Smooth Muscle	rectum
46	chr8:39918600-39919200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:39918600-39919600	Enhancers	Liver	Liver
48	chr8:39918600-39920200	Enhancers	Gastric	stomach
49	chr8:39918800-39919200	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr8:39918800-39919600	Enhancers	Placenta Amnion	Placenta Amnion

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