Variant report

Variant	esv3529423
Chromosome Location	chr7:3020058-3022353
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141196686	chr7:3020073-3020074	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs10950967	chr7:3020085-3020086	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs561105832	chr7:3020087-3020088	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs555435719	chr7:3020100-3020101	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs138564944	chr7:3020101-3020102	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs569766682	chr7:3020112-3020113	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs538856633	chr7:3020130-3020131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs574083088	chr7:3020136-3020137	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs35617337	chr7:3020229-3020230	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534645065	chr7:3020279-3020280	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186737398	chr7:3020282-3020283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552484677	chr7:3020313-3020314	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566410035	chr7:3020316-3020317	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534983266	chr7:3020325-3020326	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs5881953	chr7:3020357-3020358	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs5881954	chr7:3020364-3020365	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs397952161	chr7:3020370-3020371	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1878808	chr7:3020375-3020376	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs568076416	chr7:3020422-3020423	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537014226	chr7:3020423-3020424	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574324076	chr7:3020477-3020478	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557097948	chr7:3020506-3020507	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78595867	chr7:3020523-3020524	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79797575	chr7:3020536-3020537	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73289135	chr7:3020542-3020543	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs137900859	chr7:3020543-3020544	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561615421	chr7:3020546-3020547	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149547095	chr7:3020556-3020557	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543370845	chr7:3020557-3020558	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62439296	chr7:3020563-3020564	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563481304	chr7:3020578-3020579	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532465941	chr7:3020579-3020580	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552765268	chr7:3020585-3020586	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144123999	chr7:3020614-3020615	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528649743	chr7:3020628-3020629	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545744191	chr7:3020676-3020677	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568721751	chr7:3020677-3020678	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563993171	chr7:3020702-3020703	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561232581	chr7:3020708-3020709	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376371196	chr7:3020714-3020715	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190770211	chr7:3020744-3020745	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182962802	chr7:3020785-3020786	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74663179	chr7:3020837-3020838	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs73289136	chr7:3020885-3020886	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs186200655	chr7:3020886-3020887	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs575812291	chr7:3020904-3020905	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs6965863	chr7:3020915-3020916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs575178478	chr7:3020942-3020943	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs369763473	chr7:3020945-3020946	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs563319798	chr7:3020970-3020971	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3017800-3020600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:3017800-3020800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:3018000-3020200	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr7:3018000-3020200	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr7:3018000-3020200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr7:3018000-3020200	Flanking Active TSS	GM12878-XiMat	blood
7	chr7:3018000-3020600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr7:3018000-3020600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:3018000-3020800	Flanking Active TSS	Primary B cells from peripheral blood	blood
10	chr7:3018200-3020800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr7:3018600-3020800	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr7:3018600-3020800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
13	chr7:3018800-3020200	Active TSS	Brain Anterior Caudate	brain
14	chr7:3019000-3026000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:3019200-3020200	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:3019200-3020600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr7:3019200-3021200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr7:3019200-3024800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr7:3019200-3035800	Weak transcription	Gastric	stomach
20	chr7:3019400-3022200	Weak transcription	Small Intestine	intestine
21	chr7:3019400-3023800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:3019600-3020200	Genic enhancers	Fetal Thymus	thymus
23	chr7:3019600-3020400	Flanking Active TSS	Thymus	Thymus
24	chr7:3019600-3020600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:3019600-3020600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:3019600-3020600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:3019600-3022200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr7:3019800-3020400	Weak transcription	Spleen	Spleen
29	chr7:3019800-3020800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr7:3019800-3049000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:3020000-3020400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr7:3020000-3020600	Enhancers	Esophagus	oesophagus
33	chr7:3020000-3022800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:3020000-3025600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr7:3020000-3025800	Genic enhancers	Primary T cells fromperipheralblood	blood
36	chr7:3020000-3026800	Weak transcription	Fetal Intestine Small	intestine
37	chr7:3020200-3020400	Bivalent Enhancer	Placenta	Placenta
38	chr7:3020200-3020600	Enhancers	Primary B cells from cord blood	blood
39	chr7:3020200-3020600	Enhancers	GM12878-XiMat	blood
40	chr7:3020200-3020800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:3020200-3021200	Enhancers	Fetal Thymus	thymus
42	chr7:3020200-3021600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr7:3020200-3024000	Enhancers	Primary hematopoietic stem cells	blood
44	chr7:3020400-3020600	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr7:3020400-3021200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:3020400-3021200	Enhancers	Thymus	Thymus
47	chr7:3020400-3021200	Enhancers	Spleen	Spleen
48	chr7:3020400-3022000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr7:3020600-3020800	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr7:3020600-3020800	Flanking Active TSS	GM12878-XiMat	blood

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