Variant report

Variant	rs4913514
Chromosome Location	chr12:67339314-67339315
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67331706..67333236-chr12:67337234..67339922,2	K562	blood:
2	chr12:67331706..67334297-chr12:67337234..67339922,3	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10506512	0.81[EUR][1000 genomes]
rs11176491	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11176492	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11176493	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11176494	0.81[EUR][1000 genomes]
rs11176500	0.81[EUR][1000 genomes]
rs11176502	0.81[EUR][1000 genomes]
rs11176503	0.81[EUR][1000 genomes]
rs11176506	0.81[EUR][1000 genomes]
rs12809312	0.81[EUR][1000 genomes]
rs12809413	0.81[EUR][1000 genomes]
rs12809436	0.81[EUR][1000 genomes]
rs12809578	0.81[EUR][1000 genomes]
rs12809601	0.81[EUR][1000 genomes]
rs12810857	0.81[EUR][1000 genomes]
rs12810930	0.81[EUR][1000 genomes]
rs12811330	0.81[EUR][1000 genomes]
rs12812455	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs12813453	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs12815995	0.81[EUR][1000 genomes]
rs12818812	0.81[EUR][1000 genomes]
rs12818966	0.81[EUR][1000 genomes]
rs12819288	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12820755	0.81[EUR][1000 genomes]
rs12820762	0.86[EUR][1000 genomes]
rs12820990	0.81[EUR][1000 genomes]
rs12820993	0.81[EUR][1000 genomes]
rs12821257	0.86[EUR][1000 genomes]
rs12821510	0.87[EUR][1000 genomes]
rs12821983	0.81[EUR][1000 genomes]
rs12825803	0.81[EUR][1000 genomes]
rs12829393	0.81[EUR][1000 genomes]
rs17182971	0.87[EUR][1000 genomes]
rs2102247	0.81[EUR][1000 genomes]
rs2174294	0.81[EUR][1000 genomes]
rs35928413	0.81[EUR][1000 genomes]
rs4913515	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053250	chr12:67067995-67381411	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1044939	chr12:67207260-67377982	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1036984	chr12:67273098-67427543	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1054433	chr12:67302689-67357930	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv541523	chr12:67302689-67357930	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1040723	chr12:67329322-67396230	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv525987	chr12:67336812-67394408	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67335400-67340800	Weak transcription	HMEC	breast
2	chr12:67335800-67345200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:67336400-67343600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:67337600-67344800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:67337800-67339600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr12:67338000-67339400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:67338200-67339400	Weak transcription	Brain Anterior Caudate	brain
8	chr12:67338200-67339600	Enhancers	NHEK	skin
9	chr12:67338400-67339600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:67338600-67339400	Enhancers	Esophagus	oesophagus
11	chr12:67338600-67339600	Weak transcription	Primary T cells from cord blood	blood
12	chr12:67338600-67339600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:67338600-67342200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:67339000-67339400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr12:67339000-67340000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:67339000-67340000	Enhancers	Colon Smooth Muscle	Colon
17	chr12:67339200-67339600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:67339200-67339800	Enhancers	Gastric	stomach

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