Variant report

Variant	rs10199311
Chromosome Location	chr2:113697961-113697962
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113694655..113699559-chr2:113699730..113703257,4	MCF-7	breast:
2	chr2:113695165..113698377-chr2:113699884..113701948,3	K562	blood:
3	chr2:113031587..113033869-chr2:113697518..113699436,2	K562	blood:

Variant related genes	Relation type
ENSG00000188177	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10178396	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10188765	0.83[ASN][1000 genomes]
rs10221977	0.99[ASN][1000 genomes]
rs10864908	0.96[ASN][1000 genomes]
rs11123153	0.96[ASN][1000 genomes]
rs11687403	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11893071	0.90[ASN][1000 genomes]
rs12468164	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12471839	0.90[ASN][1000 genomes]
rs12617864	0.90[ASN][1000 genomes]
rs12711745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12987491	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2068777	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2708931	0.92[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs2708932	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2723163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2723197	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3811042	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4077216	0.92[ASN][1000 genomes]
rs4254516	0.98[ASN][1000 genomes]
rs4364030	0.84[CEU][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4387792	0.84[ASN][1000 genomes]
rs4538207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4848309	0.84[ASN][1000 genomes]
rs4849132	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6716380	0.90[ASN][1000 genomes]
rs6723582	0.90[ASN][1000 genomes]
rs6735589	0.90[ASN][1000 genomes]
rs6747618	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7557537	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7559466	0.81[JPT][hapmap]
rs7578034	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7580877	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs879710	0.81[ASN][1000 genomes]
rs879711	0.81[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	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv979388	chr2:113696105-113705504	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113694000-113699200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:113697000-113699000	Weak transcription	NHEK	skin
3	chr2:113697000-113699800	Enhancers	Liver	Liver
4	chr2:113697200-113699000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:113697200-113699400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:113697400-113699000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:113697400-113699200	Weak transcription	HMEC	breast
8	chr2:113697400-113699400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:113697400-113699600	Weak transcription	Gastric	stomach
10	chr2:113697600-113698200	Weak transcription	Stomach Mucosa	stomach
11	chr2:113697600-113699000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:113697600-113699400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:113697600-113700400	Enhancers	Colon Smooth Muscle	Colon

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