Variant report

Variant	esv1812136
Chromosome Location	chr8:120127586-120161140
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:120157195..120160231-chr8:120218744..120222756,4	MCF-7	breast:
2	chr8:120142730..120146015-chr8:120146063..120149096,3	MCF-7	breast:
3	chr8:120123624..120126325-chr8:120143117..120145371,2	MCF-7	breast:
4	chr8:120123252..120128065-chr8:120218865..120222398,4	MCF-7	breast:
5	chr8:120124264..120124843-chr8:120145286..120146057,2	MCF-7	breast:
6	chr8:119724012..119726064-chr8:120134781..120136328,2	MCF-7	breast:
7	chr8:120142730..120146015-chr8:120146063..120149096,3	MCF-7	breast:
8	chr8:120147555..120150630-chr8:120219231..120222097,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147676	chromatin interactions

Extended variants
information (count: 1171 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:1171 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11994775	chr8:120127586-120127587	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563542194	chr8:120127589-120127590	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530980688	chr8:120127609-120127610	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs78249836	chr8:120127640-120127641	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372439892	chr8:120127646-120127647	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs149002690	chr8:120127647-120127648	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528840425	chr8:120127759-120127760	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs546616623	chr8:120127791-120127792	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567924870	chr8:120127845-120127846	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548808281	chr8:120127850-120127851	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567973157	chr8:120127890-120127891	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs536449359	chr8:120127901-120127902	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs186058808	chr8:120127906-120127907	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs535753455	chr8:120127939-120127940	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs557267437	chr8:120127962-120127963	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs569090637	chr8:120128014-120128015	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs6469812	chr8:120128070-120128071	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs143833073	chr8:120128093-120128094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577311650	chr8:120128169-120128170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541154724	chr8:120128176-120128177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190866293	chr8:120128177-120128178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368323737	chr8:120128190-120128191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117653270	chr8:120128209-120128210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572039885	chr8:120128213-120128214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs61147801	chr8:120128422-120128423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539136586	chr8:120128468-120128469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531088378	chr8:120128521-120128522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183411368	chr8:120128522-120128523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148138735	chr8:120128544-120128545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528200717	chr8:120128565-120128566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7004816	chr8:120128575-120128576	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs568071986	chr8:120128590-120128591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528863310	chr8:120128617-120128618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551587339	chr8:120128689-120128690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141369964	chr8:120128705-120128706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569200682	chr8:120128722-120128723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144635140	chr8:120128731-120128732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557971064	chr8:120128736-120128737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555194433	chr8:120128751-120128752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534104361	chr8:120128764-120128765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138591154	chr8:120128766-120128767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7005527	chr8:120128775-120128776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541849127	chr8:120128798-120128799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556933764	chr8:120128862-120128863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575574404	chr8:120128890-120128891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546049297	chr8:120128899-120128900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564708368	chr8:120128901-120128902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528651579	chr8:120128910-120128911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540340686	chr8:120128924-120128925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371381934	chr8:120128949-120128950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:144)

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
Acute myeloid leukemia	20729466	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
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
Breast cancer	21611746	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
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	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
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Gastric cancer	22014070	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120124600-120129200	Enhancers	NHEK	skin
2	chr8:120125600-120129200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:120126000-120127600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr8:120126000-120129400	Enhancers	HMEC	breast
5	chr8:120126200-120127600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:120126200-120128600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:120126200-120129200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:120126600-120127600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:120127400-120128600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:120127400-120133200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:120127400-120133200	Weak transcription	Osteobl	bone
12	chr8:120127600-120128800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:120128400-120128800	Enhancers	HUVEC	blood vessel
14	chr8:120128600-120128800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:120128600-120129600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr8:120128800-120129000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:120129200-120129400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:120129200-120129800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:120129400-120129600	ZNF genes & repeats	HMEC	breast
20	chr8:120129400-120130400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:120130400-120131000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:120130400-120133600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:120130600-120130800	ZNF genes & repeats	HMEC	breast
24	chr8:120130800-120131600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:120130800-120133000	Weak transcription	HMEC	breast
26	chr8:120131000-120131400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:120131400-120134200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:120131600-120134000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:120132400-120132800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:120132800-120133000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:120132800-120133600	Enhancers	Hela-S3	cervix
32	chr8:120133000-120134000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:120133000-120134400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:120133000-120134800	Enhancers	HMEC	breast
35	chr8:120133200-120133400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:120133200-120134800	Enhancers	NHEK	skin
37	chr8:120133200-120134800	Enhancers	Osteobl	bone
38	chr8:120133400-120134200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:120133600-120134200	Weak transcription	Hela-S3	cervix
40	chr8:120133600-120134400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:120133600-120134400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:120133800-120134400	Enhancers	HUVEC	blood vessel
43	chr8:120133800-120134400	Enhancers	NHLF	lung
44	chr8:120134000-120134400	Bivalent Enhancer	NHDF-Ad	bronchial
45	chr8:120134000-120134800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:120134000-120135000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:120134200-120134400	Enhancers	Hela-S3	cervix
48	chr8:120134200-120134600	Enhancers	NH-A	brain
49	chr8:120134200-120134800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:120134200-120134800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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