Variant report

Variant	rs337262
Chromosome Location	chr5:68387417-68387418
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr5:68386984-68387442	K562	blood:	n/a	n/a
2	TEAD4	chr5:68387072-68387454	K562	blood:	n/a	n/a
3	TAL1	chr5:68387108-68387454	K562	blood:	n/a	n/a
4	POLR2A	chr5:68387152-68387418	GM12878	blood:	n/a	n/a
5	PBX3	chr5:68387033-68387526	SK-N-SH	brain:	n/a	n/a
6	JUND	chr5:68387061-68387466	K562	blood:	n/a	n/a
7	ZBTB7A	chr5:68387215-68387496	K562	blood:	n/a	n/a
8	EP300	chr5:68387069-68387516	K562	blood:	n/a	n/a
9	NFIC	chr5:68386921-68387572	SK-N-SH	brain:	n/a	n/a
10	HEY1	chr5:68387124-68387503	K562	blood:	n/a	n/a
11	RCOR1	chr5:68387019-68387576	K562	blood:	n/a	n/a
12	POLR2A	chr5:68387197-68387418	H1-hESC	embryonic stem cell:	n/a	n/a
13	MYC	chr5:68387202-68387481	K562	blood:	n/a	n/a
14	POLR2A	chr5:68387186-68387497	GM12878	blood:	n/a	n/a
15	POLR2A	chr5:68387035-68387550	PBDE	blood:	n/a	n/a
16	MAFK	chr5:68387156-68387443	K562	blood:	n/a	n/a
17	ATF1	chr5:68387089-68387420	K562	blood:	n/a	n/a
18	IRF1	chr5:68387126-68387467	K562	blood:	n/a	n/a
19	ARID3A	chr5:68387077-68387547	K562	blood:	n/a	n/a
20	GATA1	chr5:68386934-68387637	PBDE	blood:	n/a	n/a
21	IRF1	chr5:68387115-68387751	K562	blood:	n/a	n/a
22	TCF12	chr5:68386935-68387579	SK-N-SH	brain:	n/a	n/a
23	CUX1	chr5:68387136-68387445	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
SLC30A5	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10056618	0.94[ASN][1000 genomes]
rs163191	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs163192	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs163193	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs163194	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs164391	0.94[ASN][1000 genomes]
rs164394	0.94[ASN][1000 genomes]
rs164396	0.94[ASN][1000 genomes]
rs164572	0.94[ASN][1000 genomes]
rs164577	0.94[ASN][1000 genomes]
rs164578	0.94[ASN][1000 genomes]
rs164579	0.93[ASN][1000 genomes]
rs164580	0.92[ASN][1000 genomes]
rs164581	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164710	0.96[ASN][1000 genomes]
rs164712	0.96[ASN][1000 genomes]
rs186790	0.92[ASN][1000 genomes]
rs187043	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs240809	0.94[ASN][1000 genomes]
rs2447794	0.88[ASN][1000 genomes]
rs337253	0.94[ASN][1000 genomes]
rs337256	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs337259	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs338668	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs338678	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs350110	0.83[ASN][1000 genomes]
rs350111	0.94[ASN][1000 genomes]
rs350112	0.94[ASN][1000 genomes]
rs351432	0.93[ASN][1000 genomes]
rs420228	0.94[ASN][1000 genomes]
rs570884	0.94[ASN][1000 genomes]
rs688674	0.83[ASN][1000 genomes]
rs9291940	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3391099	chr5:68377245-68400350	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	nsv881765	chr5:68379836-68448694	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68381200-68389400	Weak transcription	HUVEC	blood vessel
2	chr5:68382400-68389800	Weak transcription	Right Atrium	heart
3	chr5:68385800-68387800	Enhancers	Fetal Heart	heart
4	chr5:68386200-68389400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:68386400-68387600	Enhancers	GM12878-XiMat	blood
6	chr5:68386400-68389400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:68386400-68389400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:68386400-68389400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:68387000-68387600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:68387000-68387600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr5:68387000-68387600	Enhancers	Right Ventricle	heart
12	chr5:68387000-68387600	Enhancers	HSMM	muscle
13	chr5:68387000-68388000	Enhancers	Osteobl	bone
14	chr5:68387200-68387600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:68387200-68387800	Enhancers	HSMMtube	muscle
16	chr5:68387200-68389000	Weak transcription	A549	lung
17	chr5:68387200-68389400	Weak transcription	Liver	Liver
18	chr5:68387200-68389600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:68387400-68387600	Enhancers	HepG2	liver
20	chr5:68387400-68389000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:68387400-68389200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:68387400-68389200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:68387400-68389400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:68387400-68389400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:68387400-68389400	Weak transcription	HMEC	breast
26	chr5:68387400-68389400	Enhancers	K562	blood
27	chr5:68387400-68389400	Weak transcription	NH-A	brain
28	chr5:68387400-68389400	Weak transcription	NHEK	skin
29	chr5:68387400-68389800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links