Variant report

Variant	nsv961402
Chromosome Location	chr2:46656702-46658194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:46657448-46657466	K562	blood:	n/a	n/a
2	CEBPB	chr2:46656925-46657151	K562	blood:	n/a	n/a
3	FOXA1	chr2:46657656-46657859	T-47D	breast:	n/a	n/a
4	GTF2F1	chr2:46657369-46657378	K562	blood:	n/a	n/a
5	MAX	chr2:46655848-46656962	K562	blood:	n/a	n/a
6	MYC	chr2:46655849-46656842	K562	blood:	n/a	n/a
7	MYC	chr2:46655992-46656848	K562	blood:	n/a	n/a
8	NR2F2	chr2:46655851-46656783	K562	blood:	n/a	n/a
9	POLR2A	chr2:46657180-46657380	K562	blood:	n/a	n/a
10	POLR2A	chr2:46657791-46657793	K562	blood:	n/a	n/a
11	POLR2A	chr2:46655752-46656716	K562	blood:	n/a	n/a
12	TBP	chr2:46655740-46656715	K562	blood:	n/a	n/a
13	TEAD4	chr2:46655624-46656734	K562	blood:	n/a	n/a
14	ZMIZ1	chr2:46657363-46657377	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46656214..46657827-chr2:46704173..46707018,3	K562	blood:
2	chr2:46655601..46658738-chr2:47401405..47405423,5	K562	blood:
3	chr2:46633942..46636867-chr2:46657432..46660033,3	K562	blood:
4	chr2:46524680..46526500-chr2:46655060..46657015,2	K562	blood:
5	chr2:46633942..46636424-chr2:46657432..46659768,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC018682.6.1-1	chr2:46657315-46657342	XLOC_001455
2	lnc-AC018682.6.1-1	chr2:46657313-46657372	XLOC_001455
3	lnc-AC018682.6.1-1	chr2:46657315-46657372	XLOC_001455
4	lnc-AC018682.6.1-1	chr2:46657315-46657342	XLOC_001455
5	lnc-AC018682.6.1-1	chr2:46657315-46657342	XLOC_001455
6	lnc-AC018682.6.1-1	chr2:46657315-46657342	XLOC_001455
7	lnc-AC018682.6.1-1	chr2:46657315-46657342	XLOC_001455
8	lnc-AC018682.6.1-1	chr2:46657315-46657372	NONHSAT147088

No data

Variant related genes	Relation type
TMEM247	TF binding region
ENSG00000143933	chromatin interactions
ENSG00000187600	chromatin interactions
ENSG00000116016	chromatin interactions
EFNA3	miRNA target sites
TRAF6	miRNA target sites
VLDLR	miRNA target sites

Extended variants
information (count: 65 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537310793	chr2:46656710-46656711	Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs112266424	chr2:46656762-46656763	Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs189489697	chr2:46656767-46656768	Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs181035735	chr2:46656808-46656809	Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs185920919	chr2:46656811-46656812	Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs573225985	chr2:46656812-46656813	Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs12475015	chr2:46656819-46656820	Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs565254413	chr2:46656822-46656823	Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs190828010	chr2:46656832-46656833	Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs75436293	chr2:46656847-46656848	Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs550853985	chr2:46656849-46656850	Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs181773893	chr2:46656922-46656923	Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs148220570	chr2:46656928-46656929	Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs186132237	chr2:46656960-46656961	Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs566421598	chr2:46656989-46656990	Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs556052274	chr2:46656990-46656991	Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs551771894	chr2:46656995-46656996	Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs141187384	chr2:46657015-46657016	Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs78919841	chr2:46657041-46657042	Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs7557688	chr2:46657050-46657051	Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs7587138	chr2:46657089-46657090	Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs574215052	chr2:46657102-46657103	Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs146186597	chr2:46657107-46657108	Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs553462167	chr2:46657110-46657111	Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs575203220	chr2:46657111-46657112	Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs75260984	chr2:46657114-46657115	Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs565289602	chr2:46657115-46657116	Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs142327692	chr2:46657122-46657123	Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs572059341	chr2:46657147-46657148	Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs190499375	chr2:46657149-46657150	Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs561017179	chr2:46657166-46657167	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs529926498	chr2:46657173-46657174	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs546499516	chr2:46657220-46657221	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs560259374	chr2:46657224-46657225	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs113407524	chr2:46657258-46657259	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs72618626	chr2:46657279-46657280	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs182751867	chr2:46657325-46657326	Weak transcription Active TSS Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs112340460	chr2:46657343-46657344	Weak transcription Active TSS Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs537994259	chr2:46657390-46657391	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs34093619	chr2:46657404-46657405	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs567843256	chr2:46657443-46657444	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs77224845	chr2:46657448-46657449	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs553309640	chr2:46657485-46657486	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs545796796	chr2:46657521-46657522	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs539139552	chr2:46657553-46657554	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs186666482	chr2:46657611-46657612	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs575750308	chr2:46657613-46657614	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs191112327	chr2:46657643-46657644	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs550012176	chr2:46657654-46657655	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs183003758	chr2:46657657-46657658	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46647800-46658400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:46653600-46657600	Active TSS	K562	blood
3	chr2:46655600-46657600	Active TSS	Placenta	Placenta
4	chr2:46656600-46661600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:46656600-46661800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:46657200-46672200	Enhancers	HepG2	liver
7	chr2:46657400-46657800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:46657600-46657800	Transcr. at gene 5' and 3'	K562	blood
9	chr2:46657600-46658400	Weak transcription	Placenta	Placenta
10	chr2:46657600-46660600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr2:46657600-46660800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:46657600-46663800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:46657800-46658000	Active TSS	K562	blood
14	chr2:46657800-46658200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:46657800-46660600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:46658000-46658200	Flanking Active TSS	K562	blood
17	chr2:46658000-46659800	Enhancers	Dnd41	blood
18	chr2:46658000-46660600	Enhancers	Primary T cells from cord blood	blood
19	chr2:46658000-46660800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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