Variant report

Variant	esv2764126
Chromosome Location	chr8:102618059-102625712
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:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102620271..102621973-chr8:102646232..102648776,2	MCF-7	breast:
2	chr8:102618309..102622005-chr8:102635683..102639742,4	MCF-7	breast:
3	chr8:102329492..102331583-chr8:102621198..102623417,2	MCF-7	breast:
4	chr8:102344261..102346988-chr8:102617766..102619760,2	MCF-7	breast:
5	chr8:102216396..102218957-chr8:102616180..102618442,2	MCF-7	breast:
6	chr8:102368939..102370495-chr8:102621232..102623192,2	MCF-7	breast:
7	chr8:102448412..102450698-chr8:102617075..102619900,3	MCF-7	breast:
8	chr8:102620661..102623620-chr8:102631815..102633375,2	MCF-7	breast:
9	chr8:102619068..102621889-chr8:103209199..103211504,2	MCF-7	breast:
10	chr8:102503101..102510814-chr8:102611042..102623761,44	MCF-7	breast:
11	chr8:102607349..102609385-chr8:102616212..102618619,2	MCF-7	breast:
12	chr8:102615893..102618157-chr8:103666237..103668116,2	MCF-7	breast:
13	chr8:102539558..102541965-chr8:102618200..102620922,2	MCF-7	breast:
14	chr8:102485606..102488028-chr8:102616405..102618430,2	MCF-7	breast:
15	chr8:102576342..102577944-chr8:102615348..102618284,2	MCF-7	breast:
16	chr8:102619314..102627249-chr8:102640943..102646440,7	MCF-7	breast:
17	chr8:102588119..102597900-chr8:102614552..102624670,18	MCF-7	breast:
18	chr8:102527891..102529497-chr8:102619687..102621638,2	MCF-7	breast:
19	chr8:102617567..102619221-chr8:102642834..102644728,2	MCF-7	breast:
20	chr8:102524405..102527812-chr8:102618321..102621883,4	MCF-7	breast:
21	chr8:102618200..102620350-chr8:102623909..102626355,2	K562	blood:
22	chr8:102599405..102601179-chr8:102618530..102620423,2	MCF-7	breast:
23	chr8:102619702..102621730-chr8:103818248..103820356,2	MCF-7	breast:
24	chr8:102618937..102621907-chr8:102637698..102639886,2	MCF-7	breast:
25	chr8:102525449..102527790-chr8:102621194..102623795,2	MCF-7	breast:
26	chr8:102607733..102610045-chr8:102616611..102619932,3	MCF-7	breast:
27	chr8:102617550..102620194-chr8:102645723..102647723,2	MCF-7	breast:
28	chr8:102594059..102599317-chr8:102614223..102621570,11	MCF-7	breast:
29	chr8:102371583..102375357-chr8:102617580..102619595,4	MCF-7	breast:
30	chr8:102481107..102483505-chr8:102620149..102622971,2	MCF-7	breast:
31	chr8:102624784..102626996-chr8:102628052..102630610,2	MCF-7	breast:
32	chr8:102618200..102620350-chr8:102623909..102626355,2	K562	blood:
33	chr8:102591202..102591897-chr8:102618452..102619177,2	MCF-7	breast:
34	chr8:102497120..102519676-chr8:102608888..102627613,87	MCF-7	breast:
35	chr8:102590604..102593500-chr8:102619061..102620861,2	MCF-7	breast:
36	chr8:102624611..102627024-chr8:102643155..102644680,2	MCF-7	breast:
37	chr8:102618432..102620239-chr8:103613397..103615204,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253991	chromatin interactions
ENSG00000228224	chromatin interactions
ENSG00000253669	chromatin interactions
ENSG00000155090	chromatin interactions
ENSG00000254024	chromatin interactions
ENSG00000120963	chromatin interactions
ENSG00000083307	chromatin interactions

Extended variants
information (count: 327 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:327 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185167402	chr8:102618094-102618095	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs369988031	chr8:102618140-102618141	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs558695869	chr8:102618214-102618215	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs145804218	chr8:102618226-102618227	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs10955260	chr8:102618254-102618255	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573475395	chr8:102618266-102618267	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs540533169	chr8:102618267-102618268	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs565575848	chr8:102618285-102618286	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs76553210	chr8:102618352-102618353	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs544419151	chr8:102618354-102618355	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs372338314	chr8:102618457-102618458	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs537052119	chr8:102618471-102618472	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs4734550	chr8:102618501-102618502	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530564227	chr8:102618515-102618516	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs10955261	chr8:102618558-102618559	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs567110013	chr8:102618570-102618571	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs539954129	chr8:102618571-102618572	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs72674252	chr8:102618572-102618573	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs189382528	chr8:102618597-102618598	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs546546833	chr8:102618725-102618726	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs571531447	chr8:102618771-102618772	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs16868045	chr8:102618837-102618838	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557220224	chr8:102618860-102618861	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs181748967	chr8:102618874-102618875	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs75017344	chr8:102618886-102618887	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs185080212	chr8:102618963-102618964	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs78184538	chr8:102618966-102618967	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs540644212	chr8:102618984-102618985	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs558951400	chr8:102619030-102619031	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs577153106	chr8:102619033-102619034	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs138711786	chr8:102619065-102619066	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs141253048	chr8:102619102-102619103	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs7829364	chr8:102619174-102619175	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542311016	chr8:102619198-102619199	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs188131794	chr8:102619206-102619207	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs181560897	chr8:102619207-102619208	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs546606613	chr8:102619241-102619242	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs186280763	chr8:102619258-102619259	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs7845751	chr8:102619272-102619273	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs7829636	chr8:102619329-102619330	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs79860990	chr8:102619347-102619348	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs192000843	chr8:102619353-102619354	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs548365331	chr8:102619354-102619355	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs138278261	chr8:102619389-102619390	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs149626308	chr8:102619405-102619406	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs116322120	chr8:102619422-102619423	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs377550469	chr8:102619448-102619449	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs577110567	chr8:102619454-102619455	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs386728291	chr8:102619487-102619488	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs11783504	chr8:102619491-102619492	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102552200-102620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:102590600-102631600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:102590600-102635200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:102597400-102620600	Weak transcription	Colonic Mucosa	Colon
5	chr8:102600600-102619200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:102612800-102623000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:102613000-102618800	Weak transcription	Pancreas	Pancrea
8	chr8:102614800-102619000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:102614800-102619000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:102615000-102619800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:102615000-102621600	Enhancers	Stomach Mucosa	stomach
12	chr8:102615200-102618600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:102615200-102620400	Weak transcription	Esophagus	oesophagus
14	chr8:102615200-102623000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:102615800-102621400	Enhancers	Fetal Intestine Small	intestine
16	chr8:102616200-102618200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:102616200-102623600	Weak transcription	Right Atrium	heart
18	chr8:102616600-102619400	Weak transcription	Small Intestine	intestine
19	chr8:102616600-102620000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:102616800-102618400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:102616800-102618600	Weak transcription	Fetal Lung	lung
22	chr8:102616800-102618800	Weak transcription	Fetal Kidney	kidney
23	chr8:102616800-102619200	Weak transcription	HUVEC	blood vessel
24	chr8:102616800-102643800	Weak transcription	Gastric	stomach
25	chr8:102617000-102618200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:102617000-102618600	Weak transcription	Hela-S3	cervix
27	chr8:102617000-102619000	Weak transcription	HMEC	breast
28	chr8:102617000-102619200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:102617000-102620200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:102617200-102618400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr8:102617200-102618800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:102617200-102619000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:102617200-102619000	Strong transcription	NHEK	skin
34	chr8:102617200-102619400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:102617400-102618400	Weak transcription	A549	lung
36	chr8:102617400-102620200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:102617400-102625800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:102617600-102618600	Weak transcription	Fetal Intestine Large	intestine
39	chr8:102617600-102619000	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr8:102617600-102621000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:102617800-102618200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:102617800-102618400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:102618000-102618400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr8:102618000-102619600	Strong transcription	Placenta	Placenta
45	chr8:102618000-102620200	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr8:102618000-102640800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:102618200-102618400	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr8:102618200-102619800	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr8:102618200-102620600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:102618400-102618800	Weak transcription	Rectal Mucosa Donor 29	rectum

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