Variant report

Variant	esv3427240
Chromosome Location	chr7:47737127-47741925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:47619426..47621699-chr7:47736196..47738585,2	MCF-7	breast:
2	chr7:47731657..47733270-chr7:47740448..47743349,2	MCF-7	breast:
3	chr7:47646097..47647972-chr7:47737601..47739251,2	MCF-7	breast:
4	chr7:47732465..47733984-chr7:47739980..47741778,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136205	chromatin interactions

Extended variants
information (count: 224 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554152140	chr7:47737130-47737131	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs560785769	chr7:47737134-47737135	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs190882703	chr7:47737145-47737146	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs181294285	chr7:47737149-47737150	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs139600369	chr7:47737150-47737151	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs185325113	chr7:47737176-47737177	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs372812556	chr7:47737182-47737183	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs11772165	chr7:47737239-47737240	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs558760150	chr7:47737250-47737251	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs190626104	chr7:47737260-47737261	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs116957800	chr7:47737299-47737300	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs561254214	chr7:47737317-47737318	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs145127831	chr7:47737334-47737335	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs111320381	chr7:47737350-47737351	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs28371377	chr7:47737361-47737362	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs571437842	chr7:47737366-47737367	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375599092	chr7:47737386-47737387	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs187930881	chr7:47737402-47737403	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113664527	chr7:47737429-47737430	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs538962775	chr7:47737458-47737459	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551503523	chr7:47737465-47737466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs113149707	chr7:47737466-47737467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs111975793	chr7:47737504-47737505	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs370539396	chr7:47737526-47737527	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs140555591	chr7:47737529-47737530	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs547270125	chr7:47737531-47737532	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs150447107	chr7:47737537-47737538	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs567589596	chr7:47737592-47737593	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs571507859	chr7:47737606-47737607	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs111239450	chr7:47737633-47737634	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs149212629	chr7:47737673-47737674	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs6975915	chr7:47737688-47737689	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs538652782	chr7:47737689-47737690	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs559049160	chr7:47737699-47737700	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs113066138	chr7:47737723-47737724	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs78474220	chr7:47737754-47737755	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs554713421	chr7:47737759-47737760	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs574806893	chr7:47737783-47737784	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs11765554	chr7:47737868-47737869	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs113111773	chr7:47737873-47737874	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs561116778	chr7:47737882-47737883	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs36105236	chr7:47737891-47737892	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs544639688	chr7:47737962-47737963	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564997186	chr7:47738025-47738026	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs527354881	chr7:47738030-47738031	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs183894691	chr7:47738057-47738058	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs367985951	chr7:47738081-47738082	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs561100989	chr7:47738104-47738105	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs529894024	chr7:47738149-47738150	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs550095167	chr7:47738152-47738153	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	17237825	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Abnormal phenotypes	18644119	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47731200-47741600	Weak transcription	Right Atrium	heart
2	chr7:47732800-47737800	Weak transcription	HSMMtube	muscle
3	chr7:47732800-47739000	Weak transcription	Pancreas	Pancrea
4	chr7:47733000-47737600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:47733000-47750000	Weak transcription	Aorta	Aorta
6	chr7:47733200-47741400	Weak transcription	A549	lung
7	chr7:47734000-47748600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:47734200-47739000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:47734600-47739400	Weak transcription	Fetal Kidney	kidney
10	chr7:47734600-47748200	Weak transcription	Fetal Stomach	stomach
11	chr7:47737200-47738200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:47737400-47737800	Enhancers	Fetal Heart	heart
13	chr7:47737400-47738400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:47737600-47738200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:47737600-47738200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr7:47737600-47738200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:47737600-47738200	Enhancers	HMEC	breast
18	chr7:47737800-47738200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:47737800-47738400	Enhancers	HSMMtube	muscle
20	chr7:47738000-47738200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:47738400-47741600	Weak transcription	HSMMtube	muscle
22	chr7:47739000-47739200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:47739000-47739600	Genic enhancers	Pancreas	Pancrea
24	chr7:47739200-47739400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:47739400-47740000	ZNF genes & repeats	Fetal Kidney	kidney
26	chr7:47739600-47740000	Enhancers	Pancreas	Pancrea
27	chr7:47740000-47744800	Weak transcription	Fetal Kidney	kidney
28	chr7:47740000-47744800	Weak transcription	Pancreas	Pancrea
29	chr7:47741400-47742000	Enhancers	A549	lung
30	chr7:47741600-47742000	Enhancers	HepG2	liver
31	chr7:47741600-47742800	Enhancers	HSMMtube	muscle

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