Variant report

Variant	rs934749
Chromosome Location	chr2:113361243-113361244
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113005402..113007381-chr2:113358555..113361343,2	K562	blood:
2	chr2:113356920..113360404-chr2:113360681..113365299,5	MCF-7	breast:
3	chr2:113358735..113361704-chr2:113402110..113405649,3	K562	blood:

Variant related genes	Relation type
ENSG00000237753	Chromatin interaction
ENSG00000144136	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10171686	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10190108	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11691929	0.92[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11694460	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11694966	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12469092	0.98[ASN][1000 genomes]
rs12477807	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12611573	0.88[ASN][1000 genomes]
rs12613849	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34725617	0.87[EUR][1000 genomes]
rs3849317	0.83[JPT][hapmap]
rs3961913	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4848284	0.84[JPT][hapmap]
rs6748577	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6749723	0.92[ASN][1000 genomes]
rs6757781	0.83[JPT][hapmap]
rs7594007	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7606487	0.93[ASN][1000 genomes]
rs934748	0.95[CHB][hapmap];0.88[JPT][hapmap];0.95[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	nsv874877	chr2:113287964-113382054	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113346800-113374600	Weak transcription	Ovary	ovary
2	chr2:113347600-113363800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:113348600-113383600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:113348800-113364000	Weak transcription	Fetal Stomach	stomach
5	chr2:113349000-113384000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:113349400-113361400	Weak transcription	Thymus	Thymus
7	chr2:113352200-113364800	Weak transcription	Primary T cells from cord blood	blood
8	chr2:113355400-113363800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:113357000-113371800	Weak transcription	Gastric	stomach
10	chr2:113357800-113375200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:113357800-113384200	Weak transcription	Pancreas	Pancrea
12	chr2:113358000-113361600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:113358000-113365400	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:113358000-113371800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:113358000-113384000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:113358400-113364600	Enhancers	Placenta	Placenta
17	chr2:113358600-113363800	Weak transcription	HSMMtube	muscle
18	chr2:113358600-113364400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:113359400-113363600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:113359600-113364000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:113359600-113371800	Weak transcription	Brain Germinal Matrix	brain
22	chr2:113359800-113365200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:113359800-113372000	Weak transcription	Fetal Brain Female	brain
24	chr2:113361200-113363800	Weak transcription	Liver	Liver

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