Variant report

Variant	nsv824147
Chromosome Location	chr7:66026159-66030478
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	CTCF	chr7:66029040-66029190	MCF-7	breast:	n/a	n/a
2	POLR2A	chr7:66029198-66029206	MCF-7	breast:	n/a	n/a
3	POLR2A	chr7:66025929-66026311	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:66027810-66028128	K562	blood:	n/a	n/a
5	POLR2A	chr7:66026407-66026578	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:66025974-66026174	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:66028430-66028625	K562	blood:	n/a	n/a
8	POLR2A	chr7:66027444-66027510	HepG2	liver:	n/a	n/a
9	POLR2A	chr7:66029210-66029283	MCF-7	breast:	n/a	n/a
10	POLR2A	chr7:66029070-66029281	HepG2	liver:	n/a	n/a
11	POLR2A	chr7:66029583-66029805	A549	lung:	n/a	n/a
12	POLR2A	chr7:66028997-66029097	HepG2	liver:	n/a	n/a
13	POLR2A	chr7:66029569-66029613	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66027953..66030074-chr7:66033611..66035977,2	K562	blood:
2	chr7:66030313..66032213-chr7:66037914..66039587,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177418	TF binding region

Extended variants
information (count: 314 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183316793	chr7:66026178-66026179	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs144454665	chr7:66026289-66026290	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs186228743	chr7:66026316-66026317	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528732402	chr7:66026341-66026342	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145218466	chr7:66026399-66026400	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572002072	chr7:66026494-66026495	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs537020618	chr7:66026507-66026508	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs550615730	chr7:66026563-66026564	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs370161988	chr7:66026587-66026588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567334600	chr7:66026605-66026606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535972269	chr7:66026636-66026637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149138242	chr7:66026647-66026648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572948556	chr7:66026653-66026654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75781715	chr7:66026655-66026656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555095347	chr7:66026660-66026661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142366858	chr7:66026666-66026667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151270680	chr7:66026672-66026673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141615079	chr7:66026713-66026714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539081051	chr7:66026741-66026742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557677077	chr7:66026743-66026744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191149854	chr7:66026757-66026758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182156745	chr7:66026758-66026759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574035659	chr7:66026781-66026782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542754857	chr7:66026786-66026787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559836088	chr7:66026867-66026868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145998666	chr7:66026869-66026870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
27	rs551977400	chr7:66026891-66026892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371514797	chr7:66026895-66026896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565548102	chr7:66026971-66026972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531245949	chr7:66026972-66026973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550553700	chr7:66026988-66026989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567273796	chr7:66026993-66026994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529740457	chr7:66027012-66027013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546362820	chr7:66027013-66027014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566590487	chr7:66027056-66027057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145245166	chr7:66027063-66027064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138876264	chr7:66027073-66027074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375608346	chr7:66027074-66027075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71049461	chr7:66027078-66027079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62465459	chr7:66027079-66027080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200323847	chr7:66027082-66027083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201594800	chr7:66027083-66027084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71526558	chr7:66027088-66027089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111429506	chr7:66027090-66027091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199726043	chr7:66027108-66027109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538428100	chr7:66027109-66027110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76563048	chr7:66027119-66027120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558346717	chr7:66027183-66027184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568773888	chr7:66027254-66027255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537753441	chr7:66027256-66027257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Glioblastoma	21080181	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	18632612	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:216 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66004400-66052600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:66004800-66037200	Weak transcription	Psoas Muscle	Psoas
3	chr7:66008600-66056000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:66009000-66031400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:66009200-66029400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:66011000-66037000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:66011600-66045000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:66013000-66031800	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:66018400-66029000	Weak transcription	Primary B cells from cord blood	blood
10	chr7:66019800-66036600	Weak transcription	HUVEC	blood vessel
11	chr7:66019800-66037400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr7:66020000-66029000	Weak transcription	HSMM	muscle
13	chr7:66020000-66030400	Weak transcription	Fetal Kidney	kidney
14	chr7:66020000-66031200	Weak transcription	Hela-S3	cervix
15	chr7:66020000-66036600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:66020000-66037400	Weak transcription	Small Intestine	intestine
17	chr7:66020600-66030600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:66020600-66031200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:66021000-66026400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:66021200-66031200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:66021800-66056400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:66022000-66039000	Weak transcription	Aorta	Aorta
23	chr7:66022400-66030600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:66022600-66029000	Weak transcription	NHEK	skin
25	chr7:66022600-66031400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:66022600-66035200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:66023000-66026400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr7:66023000-66026400	Strong transcription	Fetal Intestine Large	intestine
29	chr7:66023000-66030400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:66023000-66031200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr7:66023000-66034600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:66023000-66036400	Weak transcription	Brain Substantia Nigra	brain
33	chr7:66023000-66036600	Weak transcription	Brain Anterior Caudate	brain
34	chr7:66023000-66036600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:66023000-66037400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr7:66023000-66040800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:66023000-66041800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr7:66023200-66027400	Strong transcription	Fetal Stomach	stomach
39	chr7:66023200-66031000	Weak transcription	Left Ventricle	heart
40	chr7:66023200-66031400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:66023200-66036800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr7:66023200-66043800	Weak transcription	Fetal Heart	heart
43	chr7:66023200-66044400	Weak transcription	Right Atrium	heart
44	chr7:66023200-66048400	Weak transcription	Colon Smooth Muscle	Colon
45	chr7:66023200-66049800	Weak transcription	Stomach Mucosa	stomach
46	chr7:66023200-66055400	Weak transcription	Fetal Brain Male	brain
47	chr7:66023400-66026400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:66023400-66026600	Strong transcription	Liver	Liver
49	chr7:66023600-66042200	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr7:66023800-66026400	Strong transcription	Primary B cells from peripheral blood	blood

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