Variant report

Variant	rs934748
Chromosome Location	chr2:113358282-113358283
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:113358188..113360377-chr2:113398948..113401833,2	K562	blood:
2	chr2:113356814..113361031-chr2:113482443..113485915,5	MCF-7	breast:
3	chr2:113356349..113359292-chr2:113483016..113484576,2	K562	blood:
4	chr2:113356920..113360404-chr2:113360681..113365299,5	MCF-7	breast:
5	chr2:113356279..113358569-chr2:113482877..113484516,3	K562	blood:
6	chr2:113238421..113239115-chr2:113357767..113358553,2	K562	blood:
7	chr2:113356964..113358508-chr2:113401677..113404509,2	MCF-7	breast:
8	chr2:113356246..113359839-chr2:113408208..113412087,4	K562	blood:
9	chr2:113340607..113344636-chr2:113357649..113359870,4	MCF-7	breast:
10	chr2:113357421..113358433-chr2:113481851..113482761,4	K562	blood:
11	chr2:113357797..113359633-chr2:113475754..113478612,2	K562	blood:
12	chr2:113357362..113358295-chr2:113483923..113484596,5	MCF-7	breast:
13	chr2:113357082..113358429-chr2:113482818..113485053,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000144130	Chromatin interaction
ENSG00000237753	Chromatin interaction
ENSG00000144136	Chromatin interaction
ENSG00000125611	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10171686	1.00[ASN][1000 genomes]
rs10190108	0.98[ASN][1000 genomes]
rs11691929	0.89[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11694460	1.00[ASN][1000 genomes]
rs11694966	0.98[ASN][1000 genomes]
rs12469092	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12477807	0.95[ASN][1000 genomes]
rs12611573	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12613849	0.92[ASN][1000 genomes]
rs3849317	0.82[JPT][hapmap]
rs3961913	1.00[ASN][1000 genomes]
rs4848284	0.82[JPT][hapmap]
rs6748577	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6749723	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6757781	0.82[JPT][hapmap]
rs7594007	0.89[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7606487	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs934749	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs934748	EDAR	cis	parietal	SCAN
rs934748	AC079922.3	cis	Heart Left Ventricle	GTEx

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113344200-113360800	Weak transcription	Fetal Brain Male	brain
2	chr2:113346800-113374600	Weak transcription	Ovary	ovary
3	chr2:113347400-113359200	Weak transcription	Brain Germinal Matrix	brain
4	chr2:113347600-113363800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:113348600-113383600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:113348800-113364000	Weak transcription	Fetal Stomach	stomach
7	chr2:113349000-113384000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:113349400-113361400	Weak transcription	Thymus	Thymus
9	chr2:113352200-113358800	Weak transcription	Fetal Brain Female	brain
10	chr2:113352200-113364800	Weak transcription	Primary T cells from cord blood	blood
11	chr2:113355400-113363800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:113357000-113371800	Weak transcription	Gastric	stomach
13	chr2:113357400-113358400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:113357400-113358600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:113357400-113358600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:113357400-113358600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:113357400-113359400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:113357400-113359800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:113357400-113359800	Enhancers	HMEC	breast
20	chr2:113357400-113359800	Enhancers	NHEK	skin
21	chr2:113357600-113358400	Enhancers	Colon Smooth Muscle	Colon
22	chr2:113357600-113358600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:113357600-113358600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:113357600-113358600	Enhancers	Fetal Heart	heart
25	chr2:113357600-113358600	Enhancers	HSMMtube	muscle
26	chr2:113357600-113358800	Enhancers	HSMM	muscle
27	chr2:113357600-113359600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:113357600-113359800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:113357800-113358400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:113357800-113358400	Enhancers	A549	lung
31	chr2:113357800-113358600	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:113357800-113358600	Enhancers	Hela-S3	cervix
33	chr2:113357800-113358600	Enhancers	NHDF-Ad	bronchial
34	chr2:113357800-113358600	Enhancers	Osteobl	bone
35	chr2:113357800-113375200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:113357800-113384200	Weak transcription	Pancreas	Pancrea
37	chr2:113358000-113358400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:113358000-113358400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:113358000-113358400	Weak transcription	Placenta	Placenta
40	chr2:113358000-113359200	Enhancers	Adipose Nuclei	Adipose
41	chr2:113358000-113360400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:113358000-113360400	Weak transcription	HepG2	liver
43	chr2:113358000-113360600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:113358000-113361600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:113358000-113365400	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:113358000-113371800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr2:113358000-113384000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:113358200-113360200	Weak transcription	Liver	Liver

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