Variant report

Variant	rs12344347
Chromosome Location	chr9:16769662-16769663
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10756811	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10756812	0.82[CEU][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10810606	0.82[EUR][1000 genomes]
rs10810616	0.91[CEU][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10810619	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10810628	0.81[CEU][hapmap];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10810629	0.82[CEU][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10962570	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10962572	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10962573	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10962582	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10962585	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10962590	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11793056	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11793537	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11795031	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12343424	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12344799	0.91[AMR][1000 genomes]
rs12353453	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13290007	0.82[CEU][hapmap]
rs13294647	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13299347	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1330299	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4623533	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56343038	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs944207	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9987471	0.81[CEU][hapmap];0.82[EUR][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	nsv530933	chr9:16251206-16830845	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530934	chr9:16281246-16779432	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1032856	chr9:16465330-16773471	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv540073	chr9:16465330-16773471	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv2758627	chr9:16641966-16809203	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv2759673	chr9:16641966-16809203	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv892650	chr9:16696187-16950860	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16745400-16774800	Weak transcription	Osteobl	bone
2	chr9:16754000-16787000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr9:16755800-16778400	Weak transcription	Colon Smooth Muscle	Colon
4	chr9:16762600-16786800	Weak transcription	NHLF	lung
5	chr9:16766400-16771800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr9:16767000-16775000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:16767200-16770200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr9:16767200-16771200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:16767200-16778200	Weak transcription	NHDF-Ad	bronchial
10	chr9:16767600-16771000	Weak transcription	Fetal Lung	lung
11	chr9:16767600-16795400	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:16768000-16795000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr9:16768200-16771800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr9:16768400-16770000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr9:16768400-16771600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:16768400-16775000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr9:16768600-16773200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr9:16769000-16772200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:16769200-16769800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr9:16769200-16769800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:16769200-16770200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr9:16769200-16770200	Enhancers	Ovary	ovary
23	chr9:16769200-16771600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr9:16769400-16769800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr9:16769400-16770400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr9:16769400-16770400	Enhancers	Fetal Stomach	stomach
27	chr9:16769400-16782600	Weak transcription	Fetal Kidney	kidney
28	chr9:16769400-16784800	Weak transcription	Fetal Intestine Large	intestine
29	chr9:16769600-16769800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:16769600-16770000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr9:16769600-16770800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr9:16769600-16771800	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links