Variant report

Variant	rs778491
Chromosome Location	chr3:23516100-23516101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11718111	0.82[EUR][1000 genomes]
rs13316118	0.85[EUR][1000 genomes]
rs13323077	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1498810	0.82[EUR][1000 genomes]
rs1498812	0.83[EUR][1000 genomes]
rs1692621	0.81[EUR][1000 genomes]
rs1692646	0.84[EUR][1000 genomes]
rs1692647	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1692648	0.84[EUR][1000 genomes]
rs1692649	0.84[EUR][1000 genomes]
rs1695183	0.84[EUR][1000 genomes]
rs1695185	0.84[EUR][1000 genomes]
rs1695192	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1695197	0.85[EUR][1000 genomes]
rs1695203	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17194751	0.81[EUR][1000 genomes]
rs1995174	0.81[EUR][1000 genomes]
rs1995175	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2055307	0.83[EUR][1000 genomes]
rs56034809	0.83[EUR][1000 genomes]
rs58718028	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59012069	0.81[EUR][1000 genomes]
rs62255784	0.81[EUR][1000 genomes]
rs62255785	0.81[EUR][1000 genomes]
rs62256989	0.83[ASN][1000 genomes]
rs6550758	0.81[EUR][1000 genomes]
rs6807859	0.81[EUR][1000 genomes]
rs73139773	0.81[EUR][1000 genomes]
rs73140544	0.83[EUR][1000 genomes]
rs7431560	0.89[ASN][1000 genomes]
rs7614195	0.82[EUR][1000 genomes]
rs7636705	0.83[EUR][1000 genomes]
rs7646541	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs778465	0.88[EUR][1000 genomes]
rs778479	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs778483	0.81[EUR][1000 genomes]
rs778489	0.87[EUR][1000 genomes]
rs778511	0.81[EUR][1000 genomes]
rs778512	0.81[EUR][1000 genomes]
rs778513	0.81[EUR][1000 genomes]
rs778515	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs778516	0.82[EUR][1000 genomes]
rs778517	0.82[EUR][1000 genomes]
rs778518	0.83[EUR][1000 genomes]
rs778519	0.82[EUR][1000 genomes]
rs778520	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs778522	0.84[EUR][1000 genomes]
rs778524	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs778525	0.83[EUR][1000 genomes]
rs778527	0.81[EUR][1000 genomes]
rs801277	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs809640	0.82[EUR][1000 genomes]
rs9631541	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9862734	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002823	chr3:23277838-23623083	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1007373	chr3:23367952-23710331	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	esv3461597	chr3:23513853-23518773	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3461594	chr3:23513895-23518755	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3461598	chr3:23513918-23518734	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3461595	chr3:23513925-23518707	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv13700	chr3:23513998-23518657	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3461599	chr3:23514005-23518671	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23498200-23516200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:23506800-23516400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:23507200-23516600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:23507400-23516200	Weak transcription	HSMMtube	muscle
5	chr3:23511600-23516400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:23512000-23523000	Weak transcription	Psoas Muscle	Psoas
7	chr3:23512000-23527400	Weak transcription	Left Ventricle	heart
8	chr3:23513000-23516200	Weak transcription	Brain Substantia Nigra	brain
9	chr3:23513400-23522800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:23513800-23516400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:23513800-23527400	Weak transcription	Right Atrium	heart
12	chr3:23515400-23517200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr3:23515800-23516600	Enhancers	Primary T cells from cord blood	blood
14	chr3:23515800-23516800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr3:23516000-23516400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr3:23516000-23516600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr3:23516000-23516600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:23516000-23517000	Enhancers	Dnd41	blood

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