Variant report

Variant	nsv970987
Chromosome Location	chr7:39802380-39804754
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr7:39804149-39804386	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39795664..39798503-chr7:39801228..39803990,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C7orf11-2	chr7:39803198-39803268	XLOC_006416

Variant related genes	Relation type
RNU6-719P	TF binding region

Extended variants
information (count: 91 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6955657	chr7:39802389-39802390	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190516556	chr7:39802392-39802393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112751058	chr7:39802408-39802409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568677251	chr7:39802417-39802418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534236559	chr7:39802487-39802488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112980645	chr7:39802520-39802521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185068259	chr7:39802565-39802566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539802034	chr7:39802569-39802570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556307271	chr7:39802587-39802588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576254920	chr7:39802622-39802623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535372623	chr7:39802644-39802645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532940688	chr7:39802666-39802667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369782560	chr7:39802671-39802672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190259355	chr7:39802675-39802676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181063025	chr7:39802691-39802692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564192975	chr7:39802695-39802696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577691767	chr7:39802696-39802697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543376141	chr7:39802697-39802698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563151664	chr7:39802698-39802699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142212160	chr7:39802784-39802785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548900740	chr7:39802791-39802792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147061894	chr7:39802857-39802858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185641312	chr7:39802882-39802883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548040972	chr7:39803023-39803024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138350856	chr7:39803093-39803094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189701808	chr7:39803103-39803104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs180946646	chr7:39803109-39803110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187331871	chr7:39803122-39803123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569955395	chr7:39803128-39803129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535504467	chr7:39803168-39803169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555233257	chr7:39803171-39803172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572043473	chr7:39803179-39803180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369381762	chr7:39803209-39803210	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs534487985	chr7:39803210-39803211	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs373006284	chr7:39803242-39803243	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs73377485	chr7:39803245-39803246	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs191848972	chr7:39803287-39803288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555439173	chr7:39803288-39803289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369264730	chr7:39803291-39803292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143917987	chr7:39803295-39803296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372032691	chr7:39803309-39803310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75762786	chr7:39803311-39803312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111786272	chr7:39803422-39803423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs80180411	chr7:39803438-39803439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76696315	chr7:39803440-39803441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184058208	chr7:39803455-39803456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537986551	chr7:39803467-39803468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542682176	chr7:39803480-39803481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562349910	chr7:39803606-39803607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138731595	chr7:39803623-39803624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39774200-39807400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:39775800-39807000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr7:39775800-39811200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:39776600-39820400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:39782400-39809000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:39784800-39802600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:39785000-39831800	Weak transcription	Primary B cells from cord blood	blood
8	chr7:39789600-39807200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:39794000-39830800	Weak transcription	Pancreas	Pancrea
10	chr7:39794200-39820800	Weak transcription	Ovary	ovary
11	chr7:39794200-39837400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:39794600-39808800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:39794600-39810200	Weak transcription	Fetal Stomach	stomach
14	chr7:39794600-39830800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:39795000-39802600	Weak transcription	NHDF-Ad	bronchial
16	chr7:39795000-39802800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr7:39795200-39802400	Weak transcription	NH-A	brain
18	chr7:39795200-39807400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:39795400-39813000	Weak transcription	GM12878-XiMat	blood
20	chr7:39795400-39833400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:39795800-39811400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:39797800-39802400	Weak transcription	Thymus	Thymus
23	chr7:39798000-39802400	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:39798000-39804200	Weak transcription	Stomach Mucosa	stomach
25	chr7:39798000-39807200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:39798000-39811800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr7:39798200-39802400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:39798200-39802400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:39798200-39802400	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:39798200-39808200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr7:39798200-39820800	Weak transcription	Esophagus	oesophagus
32	chr7:39798200-39831000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr7:39798400-39807200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:39798400-39810200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:39798400-39830800	Weak transcription	Fetal Intestine Small	intestine
36	chr7:39798600-39807200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:39799000-39821200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:39799800-39820400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:39800800-39802400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:39801000-39803000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr7:39801000-39803000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr7:39801200-39802600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr7:39801200-39803000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr7:39801200-39803400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:39801400-39802400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:39801400-39802600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr7:39801400-39803200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:39801400-39803400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr7:39801600-39802600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:39801600-39807200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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