Variant report

Variant	nsv972563
Chromosome Location	chr8:102970051-102975959
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102968258..102970175-chr8:102971587..102974473,2	MCF-7	breast:
2	chr8:102970883..102973070-chr8:102973117..102975450,3	MCF-7	breast:
3	chr8:102970055..102972345-chr8:102973060..102976868,3	MCF-7	breast:
4	chr8:102970055..102972345-chr8:102973060..102976868,3	MCF-7	breast:
5	chr8:102968258..102970175-chr8:102971587..102974473,2	MCF-7	breast:
6	chr8:102974756..102976372-chr8:102978435..102981394,2	K562	blood:
7	chr8:102970883..102973070-chr8:102973117..102975450,3	MCF-7	breast:
8	chr8:102974419..102976256-chr8:102977561..102979935,2	K562	blood:
9	chr8:102971042..102973753-chr8:102975673..102978359,2	MCF-7	breast:
10	chr8:102968711..102970531-chr8:102970861..102973050,2	MCF-7	breast:
11	chr8:102968711..102970531-chr8:102970861..102973050,2	MCF-7	breast:
12	chr8:102971042..102973753-chr8:102975673..102978359,2	MCF-7	breast:
13	chr8:102975291..102976986-chr8:102979593..102982495,2	MCF-7	breast:

No data

Extended variants
information (count: 184 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558056673	chr8:102970067-102970068	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139856375	chr8:102970076-102970077	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181353198	chr8:102970153-102970154	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559008037	chr8:102970269-102970270	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571090222	chr8:102970272-102970273	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534001978	chr8:102970330-102970331	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558531995	chr8:102970387-102970388	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576785471	chr8:102970407-102970408	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7010848	chr8:102970428-102970429	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs185537250	chr8:102970464-102970465	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575003244	chr8:102970465-102970466	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs16868801	chr8:102970473-102970474	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs149696562	chr8:102970490-102970491	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560514332	chr8:102970498-102970499	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190789170	chr8:102970533-102970534	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564885452	chr8:102970580-102970581	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181839426	chr8:102970591-102970592	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574632466	chr8:102970599-102970600	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541937686	chr8:102970618-102970619	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368075267	chr8:102970629-102970630	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562619757	chr8:102970632-102970633	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6991019	chr8:102970640-102970641	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs145798493	chr8:102970663-102970664	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562943051	chr8:102970692-102970693	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527789310	chr8:102970707-102970708	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187314309	chr8:102970764-102970765	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570557401	chr8:102970773-102970774	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537828311	chr8:102970808-102970809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556848386	chr8:102970827-102970828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6995105	chr8:102970851-102970852	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs192222567	chr8:102970877-102970878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554412191	chr8:102970908-102970909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183699774	chr8:102970919-102970920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540371770	chr8:102970921-102970922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558683561	chr8:102970998-102970999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186726804	chr8:102971061-102971062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543849391	chr8:102971112-102971113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189527675	chr8:102971131-102971132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369916484	chr8:102971136-102971137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562470813	chr8:102971148-102971149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182565461	chr8:102971174-102971175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112514068	chr8:102971269-102971270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541680071	chr8:102971281-102971282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550780105	chr8:102971287-102971288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559955601	chr8:102971293-102971294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117633302	chr8:102971303-102971304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552280021	chr8:102971376-102971377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373786829	chr8:102971466-102971467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4734604	chr8:102971542-102971543	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs1371739	chr8:102971547-102971548	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22495309	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102957600-102970200	Weak transcription	Esophagus	oesophagus
2	chr8:102961000-102971200	Weak transcription	Aorta	Aorta
3	chr8:102963200-102973600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:102965200-102970800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:102965400-102971000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:102965400-102989800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:102966800-102971000	Weak transcription	Right Ventricle	heart
8	chr8:102967400-102972200	Weak transcription	GM12878-XiMat	blood
9	chr8:102968600-102970400	Enhancers	Fetal Brain Male	brain
10	chr8:102968800-102970800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:102968800-102972200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:102968800-102974200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:102969200-102979600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:102969600-102970200	Enhancers	Fetal Muscle Leg	muscle
15	chr8:102969600-102970200	Enhancers	Rectal Smooth Muscle	rectum
16	chr8:102969600-102970200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr8:102969600-102970400	Enhancers	Psoas Muscle	Psoas
18	chr8:102969600-102970800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:102969800-102970200	Enhancers	Brain Cingulate Gyrus	brain
20	chr8:102969800-102970200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:102969800-102970200	Enhancers	Ovary	ovary
22	chr8:102969800-102970200	Enhancers	Right Atrium	heart
23	chr8:102969800-102971600	Enhancers	NHDF-Ad	bronchial
24	chr8:102969800-102971800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:102970000-102970400	Enhancers	Left Ventricle	heart
26	chr8:102970000-102974400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:102970200-102970400	Enhancers	Esophagus	oesophagus
28	chr8:102970200-102973800	Weak transcription	Ovary	ovary
29	chr8:102970200-102973800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr8:102970200-102973800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:102970400-102979600	Weak transcription	Left Ventricle	heart
32	chr8:102970400-102980800	Weak transcription	Psoas Muscle	Psoas
33	chr8:102970800-102971600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:102970800-102971600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr8:102970800-102972000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr8:102970800-102979800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:102971000-102971800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:102971200-102971800	Enhancers	Aorta	Aorta
39	chr8:102971800-102972200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:102971800-102973800	Weak transcription	Aorta	Aorta
41	chr8:102971800-102979200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:102972200-102972600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:102972200-102975800	Enhancers	GM12878-XiMat	blood
44	chr8:102972600-102979400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:102973600-102974800	Enhancers	Colon Smooth Muscle	Colon
46	chr8:102973600-102975000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:102973600-102975000	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr8:102973800-102974800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:102973800-102974800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:102973800-102974800	Enhancers	Aorta	Aorta

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