Variant report

Variant	esv3359607
Chromosome Location	chr8:102614771-102615348
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102342594..102345253-chr8:102614500..102617128,2	MCF-7	breast:
2	chr8:102514177..102518015-chr8:102614637..102617886,5	MCF-7	breast:
3	chr8:102614548..102616839-chr8:102636990..102639158,2	K562	blood:
4	chr8:102613840..102615756-chr8:102643274..102644834,2	MCF-7	breast:
5	chr8:102446688..102449567-chr8:102612575..102615399,2	MCF-7	breast:
6	chr8:102503101..102510814-chr8:102611042..102623761,44	MCF-7	breast:
7	chr14:105285718..105288102-chr8:102614917..102617459,2	MCF-7	breast:
8	chr8:102612026..102615007-chr8:103875604..103877625,2	MCF-7	breast:
9	chr8:102576342..102577944-chr8:102615348..102618284,2	MCF-7	breast:
10	chr8:102588119..102597900-chr8:102614552..102624670,18	MCF-7	breast:
11	chr8:102594059..102599317-chr8:102614223..102621570,11	MCF-7	breast:
12	chr8:102478978..102481456-chr8:102614668..102616210,2	MCF-7	breast:
13	chr8:102497120..102519676-chr8:102608888..102627613,87	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000083307	chromatin interactions
ENSG00000254024	chromatin interactions
ENSG00000258701	chromatin interactions
ENSG00000155096	chromatin interactions
ENSG00000253320	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554018436	chr8:102614775-102614776	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs572716803	chr8:102614776-102614777	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs4236766	chr8:102614833-102614834	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs35567253	chr8:102614858-102614859	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs558360620	chr8:102614885-102614886	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs142018185	chr8:102614923-102614924	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs544363238	chr8:102614930-102614931	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs564507341	chr8:102614938-102614939	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs150604918	chr8:102614948-102614949	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs2030785	chr8:102614954-102614955	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs2030784	chr8:102614986-102614987	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs560171606	chr8:102615005-102615006	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs74760923	chr8:102615010-102615011	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs77401034	chr8:102615043-102615044	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs77991092	chr8:102615044-102615045	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs552081257	chr8:102615106-102615107	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs564344535	chr8:102615111-102615112	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs184942396	chr8:102615127-102615128	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs2030783	chr8:102615134-102615135	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2030782	chr8:102615171-102615172	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs139689794	chr8:102615180-102615181	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs113026232	chr8:102615203-102615204	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs566223215	chr8:102615220-102615221	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs4734548	chr8:102615236-102615237	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs4734549	chr8:102615238-102615239	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532530785	chr8:102615301-102615302	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs570225112	chr8:102615302-102615303	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs537645758	chr8:102615341-102615342	Weak transcription Enhancers	Chromatin interactive region	3 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:84 , 50 per page) page: 1 2

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	chr8:102596000-102615000	Weak transcription	Stomach Mucosa	stomach
5	chr8:102597400-102616000	Weak transcription	Gastric	stomach
6	chr8:102597400-102620600	Weak transcription	Colonic Mucosa	Colon
7	chr8:102600600-102619200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:102601600-102616200	Weak transcription	Fetal Kidney	kidney
9	chr8:102607000-102616600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:102607800-102617000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:102609200-102616000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:102611600-102617200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:102612600-102615000	Weak transcription	Fetal Brain Male	brain
14	chr8:102612800-102615000	Weak transcription	Right Atrium	heart
15	chr8:102612800-102615800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:102612800-102616600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:102612800-102617000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:102612800-102617600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr8:102612800-102623000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:102613000-102615000	Weak transcription	HMEC	breast
21	chr8:102613000-102615800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:102613000-102615800	Weak transcription	Fetal Intestine Large	intestine
23	chr8:102613000-102616000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:102613000-102617000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr8:102613000-102618800	Weak transcription	Pancreas	Pancrea
26	chr8:102613200-102614800	Weak transcription	Esophagus	oesophagus
27	chr8:102613200-102615000	Weak transcription	Lung	lung
28	chr8:102613200-102615800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:102613200-102615800	Weak transcription	Fetal Intestine Small	intestine
30	chr8:102613200-102616000	Weak transcription	Fetal Stomach	stomach
31	chr8:102613200-102616000	Weak transcription	Osteobl	bone
32	chr8:102613200-102616200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:102613200-102617200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:102613600-102615200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr8:102613800-102615000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:102613800-102615000	Weak transcription	NHDF-Ad	bronchial
37	chr8:102613800-102616000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:102614000-102615000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:102614200-102614800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:102614400-102614800	Genic enhancers	HUES48 Cell Line	embryonic stem cell
41	chr8:102614400-102614800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr8:102614400-102614800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:102614400-102615000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr8:102614400-102615000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr8:102614400-102615200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:102614400-102616600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr8:102614400-102617800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:102614600-102615200	Enhancers	Adipose Nuclei	Adipose
49	chr8:102614600-102615200	Enhancers	Fetal Lung	lung
50	chr8:102614600-102615200	Enhancers	Placenta	Placenta

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