Variant report

Variant	nsv611817
Chromosome Location	chr8:102622590-102627912
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	chr8:102504239..102506791-chr8:102627887..102629436,2	MCF-7	breast:
2	chr8:102624611..102627024-chr8:102643155..102644680,2	MCF-7	breast:
3	chr8:102481107..102483505-chr8:102620149..102622971,2	MCF-7	breast:
4	chr8:102497120..102519676-chr8:102608888..102627613,87	MCF-7	breast:
5	chr8:102588119..102597900-chr8:102614552..102624670,18	MCF-7	breast:
6	chr8:102525449..102527790-chr8:102621194..102623795,2	MCF-7	breast:
7	chr8:102368939..102370495-chr8:102621232..102623192,2	MCF-7	breast:
8	chr8:102504779..102507162-chr8:102627473..102630274,3	MCF-7	breast:
9	chr8:102620661..102623620-chr8:102631815..102633375,2	MCF-7	breast:
10	chr8:102503101..102510814-chr8:102611042..102623761,44	MCF-7	breast:
11	chr8:102618200..102620350-chr8:102623909..102626355,2	K562	blood:
12	chr8:102329492..102331583-chr8:102621198..102623417,2	MCF-7	breast:
13	chr8:102619314..102627249-chr8:102640943..102646440,7	MCF-7	breast:
14	chr8:102626664..102629265-chr8:102631491..102634297,2	MCF-7	breast:
15	chr8:102624784..102626996-chr8:102628052..102630610,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254024	chromatin interactions
ENSG00000083307	chromatin interactions

Extended variants
information (count: 223 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:223 , 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	rs4734560	chr8:102622590-102622591	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369604188	chr8:102622598-102622599	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs148017865	chr8:102622607-102622608	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs141034353	chr8:102622673-102622674	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs116643798	chr8:102622717-102622718	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs563984601	chr8:102622718-102622719	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs562019563	chr8:102622767-102622768	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs531108045	chr8:102622789-102622790	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs549337117	chr8:102622794-102622795	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs7835187	chr8:102622798-102622799	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs535236848	chr8:102622799-102622800	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs180791547	chr8:102622819-102622820	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs7835323	chr8:102622826-102622827	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539070490	chr8:102622836-102622837	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs371544560	chr8:102622842-102622843	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs542470850	chr8:102622865-102622866	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs557598020	chr8:102622867-102622868	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs75468720	chr8:102622868-102622869	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs150251729	chr8:102622905-102622906	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs184353082	chr8:102622923-102622924	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs574072740	chr8:102622929-102622930	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs552619039	chr8:102622965-102622966	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs80072932	chr8:102623014-102623015	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs553509851	chr8:102623046-102623047	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs578044722	chr8:102623091-102623092	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs545451885	chr8:102623111-102623112	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs189654791	chr8:102623112-102623113	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs7838863	chr8:102623113-102623114	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs7838983	chr8:102623118-102623119	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs555015670	chr8:102623119-102623120	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs502914	chr8:102623132-102623133	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs138999406	chr8:102623148-102623149	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs78183159	chr8:102623182-102623183	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs78643136	chr8:102623183-102623184	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs12541858	chr8:102623224-102623225	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs142260166	chr8:102623226-102623227	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs535153021	chr8:102623249-102623250	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs503895	chr8:102623262-102623263	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs181136650	chr8:102623269-102623270	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs186108218	chr8:102623281-102623282	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs79609366	chr8:102623334-102623335	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs190627612	chr8:102623350-102623351	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs146290513	chr8:102623356-102623357	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs553487382	chr8:102623367-102623368	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs138216367	chr8:102623391-102623392	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs545414816	chr8:102623394-102623395	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs1404949	chr8:102623429-102623430	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs575603672	chr8:102623441-102623442	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs542904231	chr8:102623447-102623448	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs561647555	chr8:102623487-102623488	Strong transcription Weak 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:105 , 50 per page) page: 1 2 3

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	chr8:102615200-102623000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:102616200-102623600	Weak transcription	Right Atrium	heart
6	chr8:102616800-102643800	Weak transcription	Gastric	stomach
7	chr8:102617400-102625800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:102618000-102640800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:102618800-102622600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:102619200-102631800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:102619600-102622800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:102619600-102623200	Weak transcription	Placenta	Placenta
13	chr8:102619600-102631800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:102619800-102656200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr8:102620000-102625000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:102620200-102627400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:102620600-102625800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:102620800-102623400	Weak transcription	HMEC	breast
19	chr8:102620800-102637800	Weak transcription	HUVEC	blood vessel
20	chr8:102621200-102624800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:102621200-102625800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:102621200-102635800	Weak transcription	Pancreas	Pancrea
23	chr8:102621400-102623000	Weak transcription	Hela-S3	cervix
24	chr8:102621400-102623600	Weak transcription	Fetal Intestine Small	intestine
25	chr8:102621400-102626800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:102621400-102627000	Weak transcription	Fetal Intestine Large	intestine
27	chr8:102621600-102623000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:102621600-102623200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:102621600-102623400	Weak transcription	NHEK	skin
30	chr8:102621600-102623600	Weak transcription	Esophagus	oesophagus
31	chr8:102621600-102626800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:102621600-102627000	Weak transcription	Stomach Mucosa	stomach
33	chr8:102621600-102627200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr8:102622200-102625200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:102622400-102623800	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr8:102622600-102624600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:102622800-102623400	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr8:102623000-102623400	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr8:102623000-102623800	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:102623000-102624000	Enhancers	Ovary	ovary
41	chr8:102623000-102624200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr8:102623200-102623800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:102623200-102624000	Strong transcription	Placenta	Placenta
44	chr8:102623400-102623600	Enhancers	A549	lung
45	chr8:102623400-102624200	Strong transcription	NHEK	skin
46	chr8:102623400-102625400	Strong transcription	HMEC	breast
47	chr8:102623400-102632000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr8:102623400-102635200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr8:102623600-102623800	ZNF genes & repeats	Esophagus	oesophagus
50	chr8:102623600-102623800	ZNF genes & repeats	Right Atrium	heart

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