Variant report

Variant	rs12499524
Chromosome Location	chr4:151439208-151439209
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:151435911..151437740-chr4:151439092..151440946,2	K562	blood:
2	chr4:151438844..151440792-chr4:151444543..151446378,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10008675	0.84[EUR][1000 genomes]
rs10009749	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10010950	0.83[EUR][1000 genomes]
rs10025414	0.83[GIH][hapmap]
rs11099769	0.84[EUR][1000 genomes]
rs11099770	0.84[EUR][1000 genomes]
rs11099772	0.84[EUR][1000 genomes]
rs11724792	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12503291	0.84[EUR][1000 genomes]
rs12508892	0.83[GIH][hapmap]
rs12510904	0.84[EUR][1000 genomes]
rs13105060	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs13108157	0.84[EUR][1000 genomes]
rs13147825	0.80[EUR][1000 genomes]
rs1966052	0.89[GIH][hapmap]
rs4309819	0.84[EUR][1000 genomes]
rs4318628	0.81[TSI][hapmap]
rs4336204	0.84[EUR][1000 genomes]
rs4355367	0.83[GIH][hapmap]
rs4533751	0.83[GIH][hapmap]
rs4577554	0.84[EUR][1000 genomes]
rs4642231	0.83[EUR][1000 genomes]
rs4696462	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4696463	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6826066	0.86[EUR][1000 genomes]
rs6834928	0.89[GIH][hapmap]
rs6835367	0.87[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs6847725	0.83[GIH][hapmap]
rs7657997	0.84[EUR][1000 genomes]
rs7667511	0.89[GIH][hapmap]
rs7671288	0.86[ASN][1000 genomes]
rs7689850	0.89[GIH][hapmap]
rs868664	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9759976	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv869051	chr4:151347901-151737781	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	esv3445246	chr4:151422396-151447936	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1018942	chr4:151423295-151556444	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv537301	chr4:151423295-151556444	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151385400-151442200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr4:151409000-151456600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:151410000-151444400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:151422800-151474600	Weak transcription	Primary B cells from cord blood	blood
5	chr4:151431200-151439600	Weak transcription	Fetal Intestine Small	intestine
6	chr4:151431400-151439400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:151431600-151439400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:151431800-151439800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:151433000-151439400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:151433800-151444200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr4:151435800-151452600	Weak transcription	Primary T cells from cord blood	blood
12	chr4:151436000-151443800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:151436200-151452000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr4:151436600-151439400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:151436800-151439400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:151436800-151439600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr4:151436800-151439600	Weak transcription	HUVEC	blood vessel
18	chr4:151438200-151439400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:151439000-151440600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:151439200-151439600	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr4:151439200-151440200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:151439200-151440200	Enhancers	Hela-S3	cervix
23	chr4:151439200-151440200	Enhancers	HMEC	breast
24	chr4:151439200-151440200	Enhancers	NHEK	skin
25	chr4:151439200-151441200	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links