Variant report

Variant	esv3481065
Chromosome Location	chr8:87190036-87195234
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr8:87192164-87193061	MCF-7	breast:	n/a	n/a
2	GATA3	chr8:87194283-87195030	MCF-7	breast:	n/a	n/a
3	GATA3	chr8:87192417-87193001	MCF-7	breast:	n/a	n/a
4	GATA3	chr8:87194390-87194877	T-47D	breast:	n/a	n/a
5	HDAC2	chr8:87194356-87195038	MCF-7	breast:	n/a	n/a
6	HDAC2	chr8:87194449-87195030	MCF-7	breast:	n/a	n/a
7	POLR2A	chr8:87192818-87192867	ProgFib	skin:	n/a	n/a
8	STAT3	chr8:87192304-87192394	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr8:87195034-87195036	MCF10A-Er-Src	breast:	n/a	n/a
10	ZNF217	chr8:87194487-87194956	MCF-7	breast:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:87188610..87190453-chr8:87196607..87198359,2	MCF-7	breast:
2	chr8:87192734..87196437-chr8:87354857..87357737,4	MCF-7	breast:
3	chr8:87193009..87195641-chr8:87198363..87201280,2	MCF-7	breast:
4	chr8:87194628..87197311-chr8:87229703..87231831,2	MCF-7	breast:
5	chr8:87187097..87192513-chr8:87353340..87357451,6	MCF-7	breast:
6	chr8:87194678..87197306-chr8:87210652..87213144,4	MCF-7	breast:
7	chr8:87187644..87190858-chr8:87193352..87196070,3	MCF-7	breast:
8	chr8:87187218..87190589-chr8:87353304..87356196,4	MCF-7	breast:
9	chr8:87189537..87192109-chr8:87199086..87201093,2	MCF-7	breast:
10	chr8:87190469..87192191-chr8:87210663..87212770,3	MCF-7	breast:
11	chr8:87187644..87190858-chr8:87193352..87196070,3	MCF-7	breast:
12	chr8:87193443..87195770-chr8:87354919..87356635,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V0D2-1	chr8:87192647-87192848	ENSG00000253699.1

No data

Variant related genes	Relation type
ENSG00000253699	TF binding region
ENSG00000254231	chromatin interactions
ENSG00000123124	chromatin interactions

Extended variants
information (count: 185 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:185 , 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	rs550607655	chr8:87190046-87190047	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs575494143	chr8:87190050-87190051	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs149172065	chr8:87190054-87190055	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs529687541	chr8:87190112-87190113	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs577150008	chr8:87190118-87190119	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs543973385	chr8:87190151-87190152	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs546178621	chr8:87190178-87190179	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs114280651	chr8:87190189-87190190	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs77210239	chr8:87190236-87190237	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs535304362	chr8:87190247-87190248	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs558083728	chr8:87190293-87190294	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs565375341	chr8:87190300-87190301	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs68107928	chr8:87190311-87190312	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs557538730	chr8:87190322-87190323	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs574174220	chr8:87190330-87190331	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs547480440	chr8:87190346-87190347	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs559663337	chr8:87190405-87190406	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs376381646	chr8:87190413-87190414	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs13280528	chr8:87190419-87190420	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs553383445	chr8:87190420-87190421	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs547184129	chr8:87190428-87190429	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs548840546	chr8:87190461-87190462	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs573199816	chr8:87190558-87190559	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs574711253	chr8:87190600-87190601	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs188071896	chr8:87190636-87190637	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs545250484	chr8:87190676-87190677	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs7822576	chr8:87190709-87190710	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs530682056	chr8:87190714-87190715	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs7350116	chr8:87190750-87190751	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs150309005	chr8:87190762-87190763	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs72686787	chr8:87190858-87190859	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs529724656	chr8:87190887-87190888	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs546216723	chr8:87190890-87190891	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs13261340	chr8:87190898-87190899	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs77452922	chr8:87190946-87190947	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs543144305	chr8:87190995-87190996	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs191803023	chr8:87190996-87190997	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs537692953	chr8:87191086-87191087	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs183950387	chr8:87191091-87191092	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs567790695	chr8:87191107-87191108	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs28684532	chr8:87191122-87191123	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs73691713	chr8:87191166-87191167	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs573148307	chr8:87191188-87191189	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs188332370	chr8:87191226-87191227	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs558857566	chr8:87191231-87191232	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs532116559	chr8:87191246-87191247	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs115961578	chr8:87191317-87191318	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs544035168	chr8:87191335-87191336	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs147867442	chr8:87191425-87191426	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs76545298	chr8:87191426-87191427	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Autism	22495311	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
Acute lymphoblastic leukemia	22237106	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
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
Acute lymphoblastic leukemia	18458336	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
Epilepsy	20502679	CNVD
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87189200-87190200	Enhancers	A549	lung
2	chr8:87189200-87190400	Enhancers	NHEK	skin
3	chr8:87189400-87190200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:87189400-87190200	Enhancers	HMEC	breast
5	chr8:87189400-87190400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:87189400-87190400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:87189800-87192600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:87189800-87192800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:87190200-87192400	Weak transcription	HMEC	breast
10	chr8:87190200-87192600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:87190400-87192600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:87190400-87192600	Weak transcription	NHEK	skin
13	chr8:87190400-87194200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:87192400-87193000	Enhancers	HMEC	breast
15	chr8:87192600-87193000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:87192600-87193200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:87192600-87194600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:87192600-87195000	Enhancers	NHEK	skin
19	chr8:87192800-87195000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr8:87193000-87194000	Weak transcription	HMEC	breast
21	chr8:87193000-87194400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:87193200-87194200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:87194000-87194400	Enhancers	HMEC	breast
24	chr8:87194000-87194600	Weak transcription	Fetal Lung	lung
25	chr8:87194200-87194400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr8:87194200-87194600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:87194400-87194600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:87194400-87195000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:87194400-87195000	Flanking Active TSS	HMEC	breast
30	chr8:87194600-87195000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:87194600-87195000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:87194600-87195000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:87194600-87195200	Enhancers	Fetal Lung	lung
34	chr8:87195000-87195400	Enhancers	HMEC	breast
35	chr8:87195000-87196000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:87195000-87196000	Weak transcription	NHEK	skin
37	chr8:87195000-87196400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:87195200-87195600	Weak transcription	Fetal Lung	lung

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