Variant report

Variant	nsv611818
Chromosome Location	chr8:102623113-102627912
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102504239..102506791-chr8:102627887..102629436,2	MCF-7	breast:
2	chr8:102618200..102620350-chr8:102623909..102626355,2	K562	blood:
3	chr8:102497120..102519676-chr8:102608888..102627613,87	MCF-7	breast:
4	chr8:102329492..102331583-chr8:102621198..102623417,2	MCF-7	breast:
5	chr8:102624784..102626996-chr8:102628052..102630610,2	MCF-7	breast:
6	chr8:102619314..102627249-chr8:102640943..102646440,7	MCF-7	breast:
7	chr8:102624611..102627024-chr8:102643155..102644680,2	MCF-7	breast:
8	chr8:102503101..102510814-chr8:102611042..102623761,44	MCF-7	breast:
9	chr8:102588119..102597900-chr8:102614552..102624670,18	MCF-7	breast:
10	chr8:102504779..102507162-chr8:102627473..102630274,3	MCF-7	breast:
11	chr8:102525449..102527790-chr8:102621194..102623795,2	MCF-7	breast:
12	chr8:102620661..102623620-chr8:102631815..102633375,2	MCF-7	breast:
13	chr8:102368939..102370495-chr8:102621232..102623192,2	MCF-7	breast:
14	chr8:102626664..102629265-chr8:102631491..102634297,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254024	chromatin interactions
ENSG00000083307	chromatin interactions

Extended variants
information (count: 196 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:196 , 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	rs7838863	chr8:102623113-102623114	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7838983	chr8:102623118-102623119	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs555015670	chr8:102623119-102623120	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs502914	chr8:102623132-102623133	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs138999406	chr8:102623148-102623149	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs78183159	chr8:102623182-102623183	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs78643136	chr8:102623183-102623184	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs12541858	chr8:102623224-102623225	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs142260166	chr8:102623226-102623227	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs535153021	chr8:102623249-102623250	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs503895	chr8:102623262-102623263	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181136650	chr8:102623269-102623270	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs186108218	chr8:102623281-102623282	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs79609366	chr8:102623334-102623335	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs190627612	chr8:102623350-102623351	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs146290513	chr8:102623356-102623357	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs553487382	chr8:102623367-102623368	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs138216367	chr8:102623391-102623392	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs545414816	chr8:102623394-102623395	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs1404949	chr8:102623429-102623430	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs575603672	chr8:102623441-102623442	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs542904231	chr8:102623447-102623448	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs561647555	chr8:102623487-102623488	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs182056405	chr8:102623531-102623532	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs529283973	chr8:102623560-102623561	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs13262788	chr8:102623617-102623618	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs202182202	chr8:102623619-102623620	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs549523357	chr8:102623664-102623665	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs34208261	chr8:102623675-102623676	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs186393874	chr8:102623696-102623697	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs559002240	chr8:102623816-102623817	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs201581279	chr8:102623852-102623853	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs550955464	chr8:102623857-102623858	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs569272245	chr8:102623888-102623889	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs573050918	chr8:102623958-102623959	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs534756537	chr8:102623992-102623993	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs569221260	chr8:102624018-102624019	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs4734028	chr8:102624039-102624040	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs567583063	chr8:102624040-102624041	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs4734029	chr8:102624042-102624043	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs192168679	chr8:102624057-102624058	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs76831373	chr8:102624063-102624064	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs539093449	chr8:102624093-102624094	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs374399354	chr8:102624094-102624095	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs10095480	chr8:102624117-102624118	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs10095196	chr8:102624122-102624123	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs182629142	chr8:102624125-102624126	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs116905784	chr8:102624152-102624153	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs573509965	chr8:102624190-102624191	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs142814399	chr8:102624206-102624207	Weak transcription Strong transcription	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	chr8:102616200-102623600	Weak transcription	Right Atrium	heart
4	chr8:102616800-102643800	Weak transcription	Gastric	stomach
5	chr8:102617400-102625800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:102618000-102640800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:102619200-102631800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:102619600-102623200	Weak transcription	Placenta	Placenta
9	chr8:102619600-102631800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:102619800-102656200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:102620000-102625000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:102620200-102627400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:102620600-102625800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:102620800-102623400	Weak transcription	HMEC	breast
15	chr8:102620800-102637800	Weak transcription	HUVEC	blood vessel
16	chr8:102621200-102624800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:102621200-102625800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:102621200-102635800	Weak transcription	Pancreas	Pancrea
19	chr8:102621400-102623600	Weak transcription	Fetal Intestine Small	intestine
20	chr8:102621400-102626800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:102621400-102627000	Weak transcription	Fetal Intestine Large	intestine
22	chr8:102621600-102623200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:102621600-102623400	Weak transcription	NHEK	skin
24	chr8:102621600-102623600	Weak transcription	Esophagus	oesophagus
25	chr8:102621600-102626800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:102621600-102627000	Weak transcription	Stomach Mucosa	stomach
27	chr8:102621600-102627200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:102622200-102625200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:102622400-102623800	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr8:102622600-102624600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:102622800-102623400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:102623000-102623400	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr8:102623000-102623800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:102623000-102624000	Enhancers	Ovary	ovary
35	chr8:102623000-102624200	Strong transcription	Duodenum Mucosa	Duodenum
36	chr8:102623200-102623800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:102623200-102624000	Strong transcription	Placenta	Placenta
38	chr8:102623400-102623600	Enhancers	A549	lung
39	chr8:102623400-102624200	Strong transcription	NHEK	skin
40	chr8:102623400-102625400	Strong transcription	HMEC	breast
41	chr8:102623400-102632000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:102623400-102635200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr8:102623600-102623800	ZNF genes & repeats	Esophagus	oesophagus
44	chr8:102623600-102623800	ZNF genes & repeats	Right Atrium	heart
45	chr8:102623600-102624400	Strong transcription	Fetal Intestine Small	intestine
46	chr8:102623800-102624000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:102623800-102624000	Strong transcription	Esophagus	oesophagus
48	chr8:102623800-102624400	Weak transcription	Right Atrium	heart
49	chr8:102623800-102631600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr8:102623800-102631800	Weak transcription	H1 Cell Line	embryonic stem cell

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