Variant report

Variant	nsv970794
Chromosome Location	chr7:10972175-10973744
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:10972604..10974203-chr7:11013490..11015178,2	K562	blood:
2	chr7:10966685..10968984-chr7:10971328..10972857,2	K562	blood:
3	chr7:10971957..10975609-chr7:11018033..11021117,4	K562	blood:
4	chr7:10958230..10961956-chr7:10970091..10974620,4	K562	blood:
5	chr7:10970436..10972192-chr7:11007402..11009320,2	K562	blood:
6	chr7:10972604..10974747-chr7:11013678..11015868,2	K562	blood:
7	chr7:10972277..10974447-chr7:11011761..11013440,2	K562	blood:

Variant related genes	Relation type
ENSG00000106443	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190053648	chr7:10972190-10972191	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528144778	chr7:10972214-10972215	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544864383	chr7:10972246-10972247	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550982124	chr7:10972272-10972273	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570873889	chr7:10972274-10972275	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73275115	chr7:10972305-10972306	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs528848024	chr7:10972307-10972308	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181806847	chr7:10972314-10972315	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567548514	chr7:10972323-10972324	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536098118	chr7:10972334-10972335	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553090098	chr7:10972371-10972372	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112203148	chr7:10972376-10972377	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539101484	chr7:10972377-10972378	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376569921	chr7:10972381-10972382	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559079322	chr7:10972388-10972389	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575738322	chr7:10972394-10972395	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544617880	chr7:10972470-10972471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186366045	chr7:10972521-10972522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190032872	chr7:10972526-10972527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113155078	chr7:10972535-10972536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540475931	chr7:10972586-10972587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139054398	chr7:10972587-10972588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77766999	chr7:10972592-10972593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528187247	chr7:10972600-10972601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545143500	chr7:10972604-10972605	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549976791	chr7:10972605-10972606	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs544735214	chr7:10972628-10972629	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs7456156	chr7:10972639-10972640	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs530469636	chr7:10972668-10972669	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs12671052	chr7:10972673-10972674	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs73678318	chr7:10972678-10972679	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs142345753	chr7:10972739-10972740	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs115128202	chr7:10972740-10972741	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs146407864	chr7:10972755-10972756	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs79039020	chr7:10972762-10972763	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs181276509	chr7:10972792-10972793	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs185059619	chr7:10972801-10972802	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375572928	chr7:10972806-10972807	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs201391052	chr7:10972825-10972826	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs538254845	chr7:10972884-10972885	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs554905441	chr7:10972949-10972950	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs148580818	chr7:10973009-10973010	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs534470023	chr7:10973022-10973023	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs1804857	chr7:10973128-10973129	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs554152820	chr7:10973162-10973163	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs201929693	chr7:10973217-10973218	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs189868469	chr7:10973235-10973236	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs376258041	chr7:10973242-10973243	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs201845267	chr7:10973246-10973247	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11548041	chr7:10973270-10973271	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Melanoma	18172304	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
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:10958000-10972200	Weak transcription	Ovary	ovary
2	chr7:10960400-10974600	Weak transcription	Fetal Heart	heart
3	chr7:10963200-10978400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:10963800-10972200	Weak transcription	Placenta	Placenta
5	chr7:10964200-10975200	Weak transcription	Esophagus	oesophagus
6	chr7:10967000-10975000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:10967000-10975000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:10967400-10972200	Weak transcription	HepG2	liver
9	chr7:10968200-10973600	Weak transcription	Aorta	Aorta
10	chr7:10968400-10974600	Weak transcription	Brain Angular Gyrus	brain
11	chr7:10968400-10975000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr7:10968600-10974200	Weak transcription	Colon Smooth Muscle	Colon
13	chr7:10968800-10974600	Weak transcription	Fetal Intestine Small	intestine
14	chr7:10968800-10974800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr7:10968800-10975000	Weak transcription	Brain Substantia Nigra	brain
16	chr7:10969000-10972200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:10969000-10974600	Weak transcription	Brain Anterior Caudate	brain
18	chr7:10969200-10974800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr7:10969200-10975000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:10969200-10979000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:10969600-10976400	Weak transcription	Pancreas	Pancrea
22	chr7:10969600-10978400	Weak transcription	Colonic Mucosa	Colon
23	chr7:10969800-10972600	Strong transcription	Thymus	Thymus
24	chr7:10969800-10977400	Strong transcription	Fetal Thymus	thymus
25	chr7:10970000-10973000	Strong transcription	Brain Germinal Matrix	brain
26	chr7:10970000-10973200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr7:10970000-10975000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:10970000-10977800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:10970200-10972400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr7:10970200-10972800	Strong transcription	Fetal Brain Female	brain
31	chr7:10970200-10972800	Strong transcription	Fetal Muscle Leg	muscle
32	chr7:10970200-10973000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:10970200-10973000	Strong transcription	Primary T cells from cord blood	blood
34	chr7:10970200-10973400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr7:10970200-10973600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:10970200-10974000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr7:10970200-10975200	Weak transcription	Gastric	stomach
38	chr7:10970200-10975800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:10970400-10972200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:10970400-10972400	Strong transcription	Rectal Smooth Muscle	rectum
41	chr7:10970400-10972600	Strong transcription	Lung	lung
42	chr7:10970400-10972800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:10970400-10972800	Strong transcription	Stomach Smooth Muscle	stomach
44	chr7:10970400-10973800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr7:10970400-10973800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:10970400-10974000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:10970400-10974000	Strong transcription	Duodenum Mucosa	Duodenum
48	chr7:10970400-10974200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:10970400-10977600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:10970400-10977800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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