Variant report

Variant	rs6724434
Chromosome Location	chr2:113375893-113375894
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113374574..113376775-chr2:113406157..113408747,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11676691	0.85[EUR][1000 genomes]
rs11677284	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11678996	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11680446	0.89[ASN][1000 genomes]
rs12476928	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13023016	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3088301	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35743012	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4368335	0.82[EUR][1000 genomes]
rs4849078	0.83[EUR][1000 genomes]
rs4849079	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4849084	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62158654	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs908545	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv470480	chr2:113373950-113429752	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 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	chr2:113348600-113383600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:113349000-113384000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:113357800-113384200	Weak transcription	Pancreas	Pancrea
4	chr2:113358000-113384000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:113370400-113383800	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:113370600-113377800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:113371600-113382000	Weak transcription	Spleen	Spleen
8	chr2:113372200-113379800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:113372200-113384200	Weak transcription	Fetal Intestine Small	intestine
10	chr2:113372400-113384000	Weak transcription	Brain Anterior Caudate	brain
11	chr2:113372400-113388600	Weak transcription	Gastric	stomach
12	chr2:113372600-113379800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:113372800-113388000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:113373000-113379800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:113373000-113379800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:113373000-113383200	Weak transcription	Fetal Brain Female	brain
17	chr2:113373200-113378400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:113373200-113384000	Weak transcription	Brain Germinal Matrix	brain
19	chr2:113374200-113376600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr2:113374200-113376800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr2:113375200-113377800	Weak transcription	Adipose Nuclei	Adipose
22	chr2:113375400-113376400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:113375400-113376400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:113375400-113378600	Weak transcription	Hela-S3	cervix

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