Variant report

Variant	nsv515051
Chromosome Location	chr8:102621032-102625520
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102481107..102483505-chr8:102620149..102622971,2	MCF-7	breast:
2	chr8:102619314..102627249-chr8:102640943..102646440,7	MCF-7	breast:
3	chr8:102503101..102510814-chr8:102611042..102623761,44	MCF-7	breast:
4	chr8:102588119..102597900-chr8:102614552..102624670,18	MCF-7	breast:
5	chr8:102329492..102331583-chr8:102621198..102623417,2	MCF-7	breast:
6	chr8:102618937..102621907-chr8:102637698..102639886,2	MCF-7	breast:
7	chr8:102624784..102626996-chr8:102628052..102630610,2	MCF-7	breast:
8	chr8:102620661..102623620-chr8:102631815..102633375,2	MCF-7	breast:
9	chr8:102497120..102519676-chr8:102608888..102627613,87	MCF-7	breast:
10	chr8:102620271..102621973-chr8:102646232..102648776,2	MCF-7	breast:
11	chr8:102368939..102370495-chr8:102621232..102623192,2	MCF-7	breast:
12	chr8:102619068..102621889-chr8:103209199..103211504,2	MCF-7	breast:
13	chr8:102594059..102599317-chr8:102614223..102621570,11	MCF-7	breast:
14	chr8:102524405..102527812-chr8:102618321..102621883,4	MCF-7	breast:
15	chr8:102618309..102622005-chr8:102635683..102639742,4	MCF-7	breast:
16	chr8:102618200..102620350-chr8:102623909..102626355,2	K562	blood:
17	chr8:102525449..102527790-chr8:102621194..102623795,2	MCF-7	breast:
18	chr8:102624611..102627024-chr8:102643155..102644680,2	MCF-7	breast:
19	chr8:102527891..102529497-chr8:102619687..102621638,2	MCF-7	breast:
20	chr8:102619702..102621730-chr8:103818248..103820356,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000083307	chromatin interactions
ENSG00000254024	chromatin interactions
ENSG00000253669	chromatin interactions

Extended variants
information (count: 215 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568655989	chr8:102621032-102621033	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs7820809	chr8:102621057-102621058	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs554179532	chr8:102621072-102621073	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs4734556	chr8:102621082-102621083	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs539667619	chr8:102621092-102621093	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs188064429	chr8:102621135-102621136	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs12544314	chr8:102621149-102621150	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs544208207	chr8:102621192-102621193	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs142303166	chr8:102621198-102621199	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs574637302	chr8:102621248-102621249	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs566192179	chr8:102621265-102621266	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs4305864	chr8:102621353-102621354	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs4593516	chr8:102621357-102621358	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs78751436	chr8:102621407-102621408	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs527444131	chr8:102621424-102621425	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs545625192	chr8:102621447-102621448	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs4507732	chr8:102621453-102621454	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs531736934	chr8:102621479-102621480	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs192843671	chr8:102621487-102621488	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs568403965	chr8:102621492-102621493	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs4392865	chr8:102621497-102621498	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs79015034	chr8:102621518-102621519	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs2507794	chr8:102621527-102621528	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs144174430	chr8:102621556-102621557	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs558420615	chr8:102621568-102621569	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs200512843	chr8:102621578-102621579	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs35498351	chr8:102621579-102621580	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs77418906	chr8:102621580-102621581	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs570561106	chr8:102621616-102621617	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs4588817	chr8:102621670-102621671	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs555986443	chr8:102621674-102621675	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs117108559	chr8:102621715-102621716	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs572646678	chr8:102621772-102621773	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs375660004	chr8:102621789-102621790	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs185206958	chr8:102621792-102621793	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs187192226	chr8:102621805-102621806	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs374785584	chr8:102621856-102621857	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs530044921	chr8:102621885-102621886	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs572278833	chr8:102621891-102621892	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs1573283	chr8:102621892-102621893	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs200277950	chr8:102621906-102621907	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs1573282	chr8:102621946-102621947	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs147776393	chr8:102621987-102621988	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs1573281	chr8:102621998-102621999	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs192679730	chr8:102622073-102622074	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs552798628	chr8:102622078-102622079	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs547509332	chr8:102622084-102622085	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs1573280	chr8:102622107-102622108	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs1573279	chr8:102622139-102622140	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs112155525	chr8:102622181-102622182	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102590600-102631600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr8:102590600-102635200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:102612800-102623000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:102615000-102621600	Enhancers	Stomach Mucosa	stomach
5	chr8:102615200-102623000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:102615800-102621400	Enhancers	Fetal Intestine Small	intestine
7	chr8:102616200-102623600	Weak transcription	Right Atrium	heart
8	chr8:102616800-102643800	Weak transcription	Gastric	stomach
9	chr8:102617400-102625800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:102618000-102640800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:102618600-102621200	Enhancers	Fetal Lung	lung
12	chr8:102618600-102621400	Enhancers	Fetal Intestine Large	intestine
13	chr8:102618800-102621200	Enhancers	Pancreas	Pancrea
14	chr8:102618800-102622600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:102619000-102622400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:102619200-102631800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:102619600-102622800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr8:102619600-102623200	Weak transcription	Placenta	Placenta
19	chr8:102619600-102631800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:102619800-102656200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:102620000-102621400	Enhancers	Hela-S3	cervix
22	chr8:102620000-102625000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:102620200-102627400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:102620400-102621200	Flanking Active TSS	A549	lung
25	chr8:102620400-102621600	Enhancers	Esophagus	oesophagus
26	chr8:102620600-102625800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:102620800-102621200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:102620800-102621200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:102620800-102621400	Weak transcription	Colonic Mucosa	Colon
30	chr8:102620800-102621400	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr8:102620800-102622200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:102620800-102623400	Weak transcription	HMEC	breast
33	chr8:102620800-102637800	Weak transcription	HUVEC	blood vessel
34	chr8:102621000-102621200	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr8:102621000-102621200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr8:102621000-102621600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:102621000-102621600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr8:102621000-102621600	Strong transcription	NHEK	skin
39	chr8:102621200-102621600	Enhancers	Duodenum Mucosa	Duodenum
40	chr8:102621200-102621600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr8:102621200-102622400	Enhancers	A549	lung
42	chr8:102621200-102624800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:102621200-102625800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:102621200-102635800	Weak transcription	Pancreas	Pancrea
45	chr8:102621400-102621600	Enhancers	Colonic Mucosa	Colon
46	chr8:102621400-102623000	Weak transcription	Hela-S3	cervix
47	chr8:102621400-102623600	Weak transcription	Fetal Intestine Small	intestine
48	chr8:102621400-102626800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr8:102621400-102627000	Weak transcription	Fetal Intestine Large	intestine
50	chr8:102621600-102623000	Weak transcription	Duodenum Mucosa	Duodenum

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