Variant report

Variant	esv3361711
Chromosome Location	chr8:102604246-102604684
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:102503060..102507030-chr8:102601716..102605768,5	MCF-7	breast:
2	chr8:102503587..102506004-chr8:102600065..102605597,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254024	chromatin interactions
ENSG00000083307	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9642972	chr8:102604306-102604307	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs373221211	chr8:102604328-102604329	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs11382067	chr8:102604329-102604330	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs201168079	chr8:102604332-102604333	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs35224180	chr8:102604350-102604351	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs369116710	chr8:102604412-102604413	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs566567685	chr8:102604415-102604416	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs538389787	chr8:102604418-102604419	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs573831897	chr8:102604419-102604420	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs376678066	chr8:102604455-102604456	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs191000024	chr8:102604480-102604481	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs566093544	chr8:102604490-102604491	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs112918618	chr8:102604493-102604494	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs551185089	chr8:102604510-102604511	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs563598617	chr8:102604548-102604549	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs555380356	chr8:102604558-102604559	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs183155435	chr8:102604569-102604570	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs188186373	chr8:102604571-102604572	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs549088008	chr8:102604582-102604583	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs567702319	chr8:102604586-102604587	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs535329588	chr8:102604612-102604613	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs547271329	chr8:102604613-102604614	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs571971274	chr8:102604615-102604616	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs539205173	chr8:102604626-102604627	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs192613918	chr8:102604652-102604653	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

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

Chromatin state (count:34 , 50 per page) page: 1

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	chr8:102592000-102611000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:102594000-102611600	Weak transcription	Fetal Intestine Large	intestine
6	chr8:102594200-102612000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:102595800-102605400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:102596000-102615000	Weak transcription	Stomach Mucosa	stomach
9	chr8:102597400-102606600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:102597400-102616000	Weak transcription	Gastric	stomach
11	chr8:102597400-102620600	Weak transcription	Colonic Mucosa	Colon
12	chr8:102599000-102611600	Weak transcription	Pancreas	Pancrea
13	chr8:102600600-102619200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:102601400-102612200	Weak transcription	Fetal Stomach	stomach
15	chr8:102601600-102611600	Weak transcription	Fetal Intestine Small	intestine
16	chr8:102601600-102616200	Weak transcription	Fetal Kidney	kidney
17	chr8:102602200-102608600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:102602400-102611200	Weak transcription	HMEC	breast
19	chr8:102602800-102611600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr8:102603000-102606200	Weak transcription	NHEK	skin
21	chr8:102603400-102607600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:102603600-102606800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:102603600-102607000	Strong transcription	Placenta	Placenta
24	chr8:102603800-102607000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:102603800-102607000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr8:102603800-102607400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:102603800-102607600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:102604000-102606600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr8:102604000-102607000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:102604000-102612000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:102604000-102614600	Weak transcription	Fetal Lung	lung
32	chr8:102604200-102605000	Strong transcription	Esophagus	oesophagus
33	chr8:102604200-102605800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr8:102604200-102612000	Weak transcription	Rectal Mucosa Donor 31	rectum

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