Variant report

Variant	rs6737981
Chromosome Location	chr2:113374715-113374716
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:
2	chr2:113373245..113375178-chr2:113378816..113381311,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231747	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11900874	0.84[EUR][1000 genomes]
rs12987250	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13025131	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13030884	0.83[EUR][1000 genomes]
rs17586834	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17587043	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17647292	0.99[EUR][1000 genomes]
rs28819453	0.93[EUR][1000 genomes]
rs34015418	0.97[EUR][1000 genomes]
rs35670704	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36082214	0.98[EUR][1000 genomes]
rs3980072	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3980074	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4405766	0.84[EUR][1000 genomes]
rs6716749	0.86[EUR][1000 genomes]
rs6716762	0.86[EUR][1000 genomes]
rs71414685	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7566777	1.00[EUR][1000 genomes]
rs7607685	0.99[EUR][1000 genomes]
rs7607817	1.00[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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6737981	AC079922.3	cis	Muscle Skeletal	GTEx
rs6737981	AC079922.3	cis	Artery Aorta	GTEx
rs6737981	AC079922.3	cis	Artery Tibial	GTEx
rs6737981	AC079922.3	cis	Whole Blood	GTEx
rs6737981	AC079922.3	cis	Heart Left Ventricle	GTEx
rs6737981	AC079922.3	cis	Thyroid	GTEx

Chromatin state (count:26 , 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	chr2:113357800-113375200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:113357800-113384200	Weak transcription	Pancreas	Pancrea
5	chr2:113358000-113384000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:113370400-113383800	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:113370600-113377800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:113371600-113382000	Weak transcription	Spleen	Spleen
9	chr2:113372200-113379800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:113372200-113384200	Weak transcription	Fetal Intestine Small	intestine
11	chr2:113372400-113384000	Weak transcription	Brain Anterior Caudate	brain
12	chr2:113372400-113388600	Weak transcription	Gastric	stomach
13	chr2:113372600-113379800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:113372800-113388000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:113373000-113379800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:113373000-113379800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:113373000-113383200	Weak transcription	Fetal Brain Female	brain
18	chr2:113373200-113378400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:113373200-113384000	Weak transcription	Brain Germinal Matrix	brain
20	chr2:113373800-113375400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:113374000-113375800	Enhancers	Placenta	Placenta
22	chr2:113374200-113375400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:113374200-113375400	Enhancers	Hela-S3	cervix
24	chr2:113374200-113376600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr2:113374200-113376800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr2:113374600-113375000	Weak transcription	Adipose Nuclei	Adipose

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