Variant report

Variant	nsv981498
Chromosome Location	chr7:64520390-64525299
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:64523030-64523274	IMR90	lung:	n/a	n/a
2	CEBPB	chr7:64523103-64523118	K562	blood:	n/a	n/a
3	CEBPB	chr7:64523096-64523144	HepG2	liver:	n/a	n/a
4	CTCF	chr7:64524195-64524294	GM20000	blood:	n/a	n/a
5	EP300	chr7:64525034-64525219	K562	blood:	n/a	n/a
6	GATA2	chr7:64524938-64525293	K562	blood:	n/a	n/a
7	JUND	chr7:64523026-64523245	HepG2	liver:	n/a	n/a
8	POLR2A	chr7:64522402-64522824	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr7:64522853-64522886	MCF-7	breast:	n/a	n/a
10	POLR2A	chr7:64524423-64524616	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr7:64524913-64525352	HepG2	liver:	n/a	n/a
12	POLR2A	chr7:64524158-64524304	MCF-7	breast:	n/a	n/a
13	POLR2A	chr7:64521934-64523313	K562	blood:	n/a	n/a
14	POLR2A	chr7:64524826-64524910	HepG2	liver:	n/a	n/a
15	POLR2A	chr7:64522209-64522245	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr7:64523724-64523802	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr7:64524056-64524436	HepG2	liver:	n/a	n/a
18	POLR2A	chr7:64525137-64525567	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr7:64523307-64523653	HepG2	liver:	n/a	n/a
20	POLR2A	chr7:64522753-64522782	MCF-7	breast:	n/a	n/a
21	POLR2A	chr7:64523194-64523349	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr7:64524764-64524780	HepG2	liver:	n/a	n/a
23	POLR2A	chr7:64522341-64522367	HepG2	liver:	n/a	n/a
24	POLR2A	chr7:64522702-64522735	ProgFib	skin:	n/a	n/a
25	POLR2A	chr7:64523189-64523383	ProgFib	skin:	n/a	n/a
26	POLR2A	chr7:64525271-64525536	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr7:64523674-64523682	A549	lung:	n/a	n/a
28	POLR2A	chr7:64522703-64522737	MCF-7	breast:	n/a	n/a
29	POLR2A	chr7:64522404-64522731	HepG2	liver:	n/a	n/a
30	POLR2A	chr7:64523181-64523471	MCF-7	breast:	n/a	n/a
31	POLR2A	chr7:64523672-64523708	HepG2	liver:	n/a	n/a
32	POLR2A	chr7:64520724-64520918	HepG2	liver:	n/a	n/a
33	POLR2A	chr7:64525268-64525621	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:64524284-64524648	K562	blood:	n/a	n/a
35	POLR2A	chr7:64523931-64524055	HepG2	liver:	n/a	n/a
36	RCOR1	chr7:64524932-64525143	K562	blood:	n/a	n/a
37	TAL1	chr7:64525032-64525231	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000207344	TF binding region
CCT6P3	TF binding region

Extended variants
information (count: 205 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:205 , 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	rs60719537	chr7:64520470-64520471	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577048373	chr7:64520480-64520481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13233340	chr7:64520516-64520517	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs562881967	chr7:64520559-64520560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531890760	chr7:64520624-64520625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542158401	chr7:64520665-64520666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147055695	chr7:64520732-64520733	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs527750668	chr7:64520745-64520746	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs377092338	chr7:64520804-64520805	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs547610415	chr7:64520810-64520811	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs566650814	chr7:64520818-64520819	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs10237712	chr7:64520834-64520835	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs184161582	chr7:64520848-64520849	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs188299885	chr7:64520849-64520850	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs547638799	chr7:64520850-64520851	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs141350638	chr7:64520853-64520854	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs374882713	chr7:64520893-64520894	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs386713980	chr7:64520905-64520906	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs180704553	chr7:64520906-64520907	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs184972325	chr7:64520923-64520924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190522739	chr7:64520926-64520927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577021313	chr7:64520927-64520928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550578152	chr7:64520945-64520946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568527858	chr7:64520946-64520947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182002444	chr7:64520953-64520954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187107605	chr7:64520957-64520958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs386713981	chr7:64520959-64520960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111602481	chr7:64520960-64520961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561465213	chr7:64520961-64520962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374955421	chr7:64520962-64520963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72077267	chr7:64520974-64520975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs60327962	chr7:64520975-64520976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs57788412	chr7:64520986-64520987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
34	rs113986851	chr7:64520988-64520989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs398066938	chr7:64520991-64520992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62456018	chr7:64520994-64520995	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs191533392	chr7:64520996-64520997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11763475	chr7:64520997-64520998	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs564616109	chr7:64521007-64521008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115477204	chr7:64521008-64521009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552358340	chr7:64521016-64521017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181346950	chr7:64521058-64521059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554815569	chr7:64521066-64521067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531603000	chr7:64521069-64521070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548224479	chr7:64521114-64521115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10949963	chr7:64521120-64521121	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs537200406	chr7:64521132-64521133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200310204	chr7:64521140-64521141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533601040	chr7:64521147-64521148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369772376	chr7:64521156-64521157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Cognitive impairment	21505072	CNVD
Schizophrenia	20967226	CNVD
Cancer	21272361	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64499600-64531200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:64499600-64531400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:64499600-64541000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:64499800-64522200	Weak transcription	Left Ventricle	heart
5	chr7:64499800-64526600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr7:64499800-64529600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:64499800-64531200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:64499800-64541000	Weak transcription	Lung	lung
9	chr7:64499800-64541000	Weak transcription	Ovary	ovary
10	chr7:64500000-64531400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr7:64500000-64540200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr7:64500000-64541000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:64500200-64531200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:64500200-64541000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:64500200-64541000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:64500200-64541000	Weak transcription	NH-A	brain
17	chr7:64500400-64522000	Weak transcription	Brain Hippocampus Middle	brain
18	chr7:64500400-64526600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:64500400-64529400	Weak transcription	Thymus	Thymus
20	chr7:64500400-64531200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:64500400-64531400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:64500400-64531400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:64500400-64531400	Weak transcription	Fetal Lung	lung
24	chr7:64500400-64533800	Weak transcription	NHEK	skin
25	chr7:64500400-64541000	Weak transcription	Brain Germinal Matrix	brain
26	chr7:64500400-64541000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:64500600-64529000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr7:64500600-64531400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:64500600-64541000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:64500600-64541000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:64500600-64541000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:64500600-64541000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:64500600-64541000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:64500600-64541000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:64500600-64541000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr7:64500600-64541000	Weak transcription	Hela-S3	cervix
37	chr7:64500600-64541200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr7:64500800-64541200	Weak transcription	Primary T cells from cord blood	blood
39	chr7:64501000-64541000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr7:64504800-64531200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr7:64504800-64541000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:64505200-64526400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:64505800-64531400	Weak transcription	Placenta	Placenta
44	chr7:64507000-64522400	Weak transcription	Psoas Muscle	Psoas
45	chr7:64507000-64541000	Weak transcription	Pancreas	Pancrea
46	chr7:64510200-64522000	Weak transcription	Right Atrium	heart
47	chr7:64510800-64522800	Weak transcription	K562	blood
48	chr7:64511000-64532000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:64511200-64531200	Weak transcription	Fetal Intestine Small	intestine
50	chr7:64511400-64531200	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links