Variant report

Variant	rs7943612
Chromosome Location	chr11:36189281-36189282
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1014357	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10836513	0.82[ASN][1000 genomes]
rs10836514	0.93[ASN][1000 genomes]
rs11033473	0.82[ASN][1000 genomes]
rs11033475	0.86[AFR][1000 genomes]
rs11033476	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11033477	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11033478	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11499817	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11500307	0.83[AFR][1000 genomes]
rs12269916	0.92[ASN][1000 genomes]
rs12278757	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12282945	0.84[ASN][1000 genomes]
rs12417496	0.93[ASN][1000 genomes]
rs12417511	0.93[ASN][1000 genomes]
rs12420381	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12575549	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12576371	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16926221	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35567395	0.82[ASN][1000 genomes]
rs4612777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755439	0.89[ASN][1000 genomes]
rs4756291	0.94[ASN][1000 genomes]
rs4756292	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55659003	0.87[ASN][1000 genomes]
rs59459290	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6416082	0.94[ASN][1000 genomes]
rs6416083	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7111908	1.00[YRI][hapmap]
rs7117510	0.93[ASN][1000 genomes]
rs7121939	0.93[ASN][1000 genomes]
rs72935599	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72935601	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7929112	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7933303	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943467	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7948709	0.82[ASN][1000 genomes]
rs7951966	0.82[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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv897225	chr11:36136912-36244190	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36172600-36190400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:36179600-36193000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:36184400-36220000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:36184800-36206200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:36185200-36190200	Weak transcription	Brain Substantia Nigra	brain
6	chr11:36185200-36192200	Weak transcription	Fetal Intestine Small	intestine
7	chr11:36185200-36203600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:36185200-36207800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr11:36186000-36191000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:36186200-36189800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:36186400-36199800	Weak transcription	HSMMtube	muscle
12	chr11:36186400-36207600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:36186600-36190000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:36186600-36196800	Weak transcription	NHEK	skin
15	chr11:36186600-36206000	Weak transcription	HSMM	muscle
16	chr11:36187200-36192200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:36187800-36196800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:36187800-36197200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:36188000-36190800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:36188000-36192800	Weak transcription	Fetal Lung	lung
21	chr11:36188000-36192800	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:36188000-36213600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:36188200-36190600	Weak transcription	Fetal Heart	heart
24	chr11:36188200-36193200	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:36188600-36193200	Weak transcription	Fetal Kidney	kidney
26	chr11:36189000-36189400	ZNF genes & repeats	Fetal Stomach	stomach
27	chr11:36189000-36189600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:36189000-36189800	Enhancers	K562	blood
29	chr11:36189200-36189400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:36189200-36189600	Enhancers	Pancreas	Pancrea

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