Variant report

Variant	rs2956471
Chromosome Location	chr3:158267629-158267630
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11915781	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1193519	0.91[EUR][1000 genomes]
rs1435637	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1520657	0.93[EUR][1000 genomes]
rs1625612	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1656360	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1656362	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1656367	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1656371	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1714508	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1714510	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1714512	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1714513	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1714517	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1714526	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6441191	0.93[EUR][1000 genomes]
rs6788695	0.93[EUR][1000 genomes]
rs73170371	0.88[EUR][1000 genomes]
rs827105	0.93[EUR][1000 genomes]
rs827107	0.93[EUR][1000 genomes]
rs827115	0.91[EUR][1000 genomes]
rs827116	0.91[EUR][1000 genomes]
rs827117	0.91[EUR][1000 genomes]
rs827119	0.91[EUR][1000 genomes]
rs827133	0.91[EUR][1000 genomes]
rs827183	0.91[EUR][1000 genomes]
rs827189	0.91[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	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1014381	chr3:158070451-158350118	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1004124	chr3:158146715-158808638	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv877690	chr3:158184263-158296916	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2763312	chr3:158193512-158420588	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv916167	chr3:158240540-158320581	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv877691	chr3:158245883-158359667	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	esv1007699	chr3:158263005-158269833	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2956471	RSRC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158256600-158280000	Weak transcription	K562	blood
2	chr3:158257800-158268000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:158258000-158268600	Weak transcription	Pancreas	Pancrea
4	chr3:158258200-158268200	Weak transcription	Adipose Nuclei	Adipose
5	chr3:158259800-158270000	Weak transcription	Ovary	ovary
6	chr3:158260000-158279200	Weak transcription	Left Ventricle	heart
7	chr3:158260400-158270600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:158262400-158269400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:158262600-158268200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr3:158263000-158269200	Weak transcription	Liver	Liver
11	chr3:158265200-158268800	Weak transcription	Aorta	Aorta
12	chr3:158265200-158269600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:158265800-158267800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:158265800-158268000	Weak transcription	Primary T cells from cord blood	blood
15	chr3:158265800-158270400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:158266200-158268600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:158266600-158269000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:158266600-158269600	Weak transcription	Dnd41	blood
19	chr3:158266800-158268600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr3:158267400-158268200	ZNF genes & repeats	Fetal Muscle Leg	muscle

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