Variant report

Variant	esv3345362
Chromosome Location	chr8:126489195-126491743
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126487669..126490463-chr8:126500662..126505453,4	MCF-7	breast:
2	chr8:126444118..126444925-chr8:126489102..126489871,3	MCF-7	breast:
3	chr8:126440590..126444026-chr8:126489711..126492773,5	K562	blood:
4	chr8:126487883..126490527-chr8:126491210..126493645,2	K562	blood:
5	chr8:126487883..126490527-chr8:126491210..126493645,2	K562	blood:
6	chr8:126487201..126489383-chr8:126491210..126493652,2	K562	blood:
7	chr8:126490852..126493614-chr8:126495231..126496917,2	K562	blood:
8	chr8:126488519..126490566-chr8:126531807..126533427,2	MCF-7	breast:
9	chr8:126441090..126444547-chr8:126489407..126493139,4	MCF-7	breast:
10	chr8:126481379..126484101-chr8:126487149..126489863,2	MCF-7	breast:
11	chr8:126490839..126493464-chr8:126493478..126495853,2	MCF-7	breast:
12	chr8:126440471..126443261-chr8:126490513..126492965,2	K562	blood:
13	chr8:126441723..126444081-chr8:126487390..126489417,3	MCF-7	breast:
14	chr8:126488058..126489576-chr8:126500538..126503490,2	MCF-7	breast:
15	chr8:126487201..126489383-chr8:126491210..126493652,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173334	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534962723	chr8:126489204-126489205	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs71516787	chr8:126489216-126489217	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs190639596	chr8:126489236-126489237	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs61002144	chr8:126489248-126489249	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs141908735	chr8:126489281-126489282	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549294811	chr8:126489326-126489327	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs556590673	chr8:126489357-126489358	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs185630442	chr8:126489459-126489460	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs576459995	chr8:126489461-126489462	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs567117760	chr8:126489474-126489475	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs539016241	chr8:126489478-126489479	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376392810	chr8:126489500-126489501	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs114137580	chr8:126489511-126489512	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs72655687	chr8:126489528-126489529	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs150836951	chr8:126489558-126489559	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs183460653	chr8:126489608-126489609	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs372638967	chr8:126489622-126489623	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs561262653	chr8:126489623-126489624	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574664552	chr8:126489701-126489702	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs139363753	chr8:126489809-126489810	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs397893053	chr8:126489814-126489815	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372163477	chr8:126489815-126489816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs67346026	chr8:126489818-126489819	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs370852214	chr8:126489822-126489823	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs532505557	chr8:126489832-126489833	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs534636518	chr8:126489857-126489858	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs56272180	chr8:126489860-126489861	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs71295861	chr8:126489861-126489862	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs116866186	chr8:126489878-126489879	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559417733	chr8:126489941-126489942	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs71576789	chr8:126490022-126490023	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs58346265	chr8:126490038-126490039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs186311403	chr8:126490111-126490112	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs374621517	chr8:126490179-126490180	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs548468877	chr8:126490183-126490184	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs568383499	chr8:126490222-126490223	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs56991585	chr8:126490264-126490265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs373832648	chr8:126490291-126490292	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs28788330	chr8:126490298-126490299	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs28778891	chr8:126490301-126490302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs28820427	chr8:126490307-126490308	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs60681360	chr8:126490352-126490353	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs59841811	chr8:126490368-126490369	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs58271893	chr8:126490379-126490380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs60537876	chr8:126490382-126490383	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs183206591	chr8:126490426-126490427	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs550545312	chr8:126490441-126490442	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs373559980	chr8:126490453-126490454	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs570134335	chr8:126490470-126490471	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs71576790	chr8:126490479-126490480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:140)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Acute myeloid leukemia	20729466	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD
Gastric cancer	21635755	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126479400-126489200	Weak transcription	Pancreas	Pancrea
2	chr8:126483000-126489400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:126483000-126498200	Weak transcription	Right Atrium	heart
4	chr8:126483200-126489400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:126483400-126496600	Weak transcription	Hela-S3	cervix
6	chr8:126487000-126490000	Enhancers	Placenta	Placenta
7	chr8:126487200-126492400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:126487400-126489600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:126487600-126491800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:126487600-126492000	Weak transcription	NHEK	skin
11	chr8:126487600-126493200	Weak transcription	HMEC	breast
12	chr8:126487600-126496600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:126488000-126489200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:126488000-126497200	Weak transcription	Liver	Liver
15	chr8:126489000-126489600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:126489000-126489600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:126489000-126489600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:126489200-126489400	Enhancers	Pancreas	Pancrea
19	chr8:126489200-126489600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:126489200-126489600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr8:126489400-126489600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:126489400-126489800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr8:126489600-126493400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:126489800-126491400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:126491400-126492000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:126491400-126492000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr8:126491600-126491800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr8:126491600-126493600	Enhancers	Primary neutrophils fromperipheralblood	blood

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