Variant report

Variant	esv3421083
Chromosome Location	chr7:6893427-6895525
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544471054	chr7:6893443-6893444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556439755	chr7:6893444-6893445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142366790	chr7:6893504-6893505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574510526	chr7:6893513-6893514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12532586	chr7:6893531-6893532	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs12537882	chr7:6893547-6893548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62440019	chr7:6893583-6893584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545504864	chr7:6893589-6893590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563695062	chr7:6893599-6893600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565447149	chr7:6893600-6893601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550173610	chr7:6893610-6893611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373370794	chr7:6893634-6893635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12530763	chr7:6893663-6893664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs186523382	chr7:6893671-6893672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12532605	chr7:6893693-6893694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs566168876	chr7:6893700-6893701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373398812	chr7:6893707-6893708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570990838	chr7:6893708-6893709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190346053	chr7:6893727-6893728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57024993	chr7:6893728-6893729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs570036096	chr7:6893735-6893736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116755401	chr7:6893747-6893748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537455849	chr7:6893825-6893826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556166295	chr7:6893841-6893842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574702735	chr7:6893872-6893873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541651395	chr7:6893882-6893883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553894103	chr7:6893908-6893909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571914885	chr7:6893911-6893912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545467032	chr7:6893920-6893921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538411220	chr7:6893925-6893926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575617428	chr7:6893956-6893957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113351223	chr7:6893968-6893969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556598718	chr7:6893971-6893972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34583677	chr7:6893980-6893981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377756950	chr7:6894005-6894006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12532674	chr7:6894015-6894016	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs562242105	chr7:6894139-6894140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs61572847	chr7:6894155-6894156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529630647	chr7:6894179-6894180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs60135611	chr7:6894182-6894183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559938663	chr7:6894216-6894217	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs61140967	chr7:6894222-6894223	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs62440020	chr7:6894346-6894347	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs570194867	chr7:6894361-6894362	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs537027534	chr7:6894415-6894416	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74910503	chr7:6894420-6894421	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76268920	chr7:6894446-6894447	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376026713	chr7:6894449-6894450	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75594764	chr7:6894467-6894468	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190975628	chr7:6894491-6894492	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6883800-6893800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:6886000-6894200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:6893400-6893600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:6893800-6894000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:6893800-6894000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:6893800-6894200	Enhancers	Esophagus	oesophagus
7	chr7:6893800-6894200	Enhancers	Fetal Intestine Small	intestine
8	chr7:6894000-6894200	Enhancers	Fetal Intestine Large	intestine
9	chr7:6894000-6894200	Enhancers	Stomach Smooth Muscle	stomach
10	chr7:6894000-6894400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:6894000-6894400	Enhancers	Colonic Mucosa	Colon
12	chr7:6894200-6894400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:6894200-6894400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:6894200-6894400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:6894200-6894400	Flanking Active TSS	Fetal Intestine Small	intestine
16	chr7:6894200-6894400	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr7:6894200-6894600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:6894200-6894800	Active TSS	Fetal Intestine Large	intestine
19	chr7:6894400-6894600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:6894400-6894600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:6894400-6894600	Enhancers	Primary B cells from cord blood	blood
22	chr7:6894400-6894600	Enhancers	Primary hematopoietic stem cells	blood
23	chr7:6894400-6894600	Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr7:6894400-6894600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:6894400-6894600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:6894400-6894600	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:6894400-6894600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr7:6894400-6894600	Enhancers	Stomach Smooth Muscle	stomach
29	chr7:6894400-6894600	Enhancers	HUVEC	blood vessel
30	chr7:6894400-6894800	Active TSS	Right Ventricle	heart
31	chr7:6894400-6895000	Active TSS	Primary B cells from peripheral blood	blood
32	chr7:6894400-6895200	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr7:6894400-6895200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:6894400-6895200	Active TSS	Duodenum Mucosa	Duodenum
35	chr7:6894400-6895200	Active TSS	Esophagus	oesophagus
36	chr7:6894400-6895200	Active TSS	Fetal Intestine Small	intestine
37	chr7:6894400-6895200	Active TSS	Ovary	ovary
38	chr7:6894400-6895400	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr7:6894400-6895400	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr7:6894400-6895400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:6894400-6895600	Active TSS	H1 Cell Line	embryonic stem cell
42	chr7:6894400-6895600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:6894400-6895600	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr7:6894400-6895600	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr7:6894400-6895600	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr7:6894400-6895600	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr7:6894400-6895600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:6894400-6895600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr7:6894400-6895600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:6894400-6895600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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