Variant report

Variant	rs10171686
Chromosome Location	chr2:113355320-113355321
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113343268..113345450-chr2:113354947..113357847,2	K562	blood:
2	chr2:113349816..113351730-chr2:113355268..113357642,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10190108	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11691929	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11694460	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694966	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12469092	0.93[ASN][1000 genomes]
rs12477807	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12611573	0.93[ASN][1000 genomes]
rs12613849	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34725617	0.85[EUR][1000 genomes]
rs3849317	0.83[JPT][hapmap]
rs3961913	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848284	0.83[JPT][hapmap]
rs6748577	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6749723	0.97[ASN][1000 genomes]
rs6757781	0.83[JPT][hapmap]
rs7594007	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7606487	0.98[ASN][1000 genomes]
rs934748	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs934749	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];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
rs10171686	LOC653596	cis	multi-tissue	Pritchard
rs10171686	EDAR	cis	parietal	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113343200-113357400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:113343200-113357400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:113343200-113357400	Weak transcription	A549	lung
4	chr2:113343200-113357400	Weak transcription	HMEC	breast
5	chr2:113343200-113357400	Weak transcription	NHDF-Ad	bronchial
6	chr2:113343400-113357400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:113343600-113357400	Weak transcription	K562	blood
8	chr2:113343600-113357600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:113343800-113357600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:113344200-113360800	Weak transcription	Fetal Brain Male	brain
11	chr2:113344800-113357600	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:113345200-113357400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:113345200-113357600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:113345400-113357600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:113346400-113357600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:113346400-113357600	Weak transcription	Liver	Liver
17	chr2:113346400-113357600	Weak transcription	Brain Angular Gyrus	brain
18	chr2:113346400-113357600	Weak transcription	Brain Anterior Caudate	brain
19	chr2:113346400-113357600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:113346400-113357600	Weak transcription	Fetal Kidney	kidney
21	chr2:113346800-113357400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr2:113346800-113357400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:113346800-113357400	Weak transcription	Adipose Nuclei	Adipose
24	chr2:113346800-113357400	Weak transcription	Psoas Muscle	Psoas
25	chr2:113346800-113357400	Weak transcription	HepG2	liver
26	chr2:113346800-113357400	Weak transcription	Osteobl	bone
27	chr2:113346800-113357600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:113346800-113357600	Weak transcription	Brain Substantia Nigra	brain
29	chr2:113346800-113357600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:113346800-113357600	Weak transcription	Spleen	Spleen
31	chr2:113346800-113357600	Weak transcription	HSMM	muscle
32	chr2:113346800-113357600	Weak transcription	HSMMtube	muscle
33	chr2:113346800-113357600	Weak transcription	NHLF	lung
34	chr2:113346800-113374600	Weak transcription	Ovary	ovary
35	chr2:113347200-113357400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr2:113347200-113357400	Weak transcription	NHEK	skin
37	chr2:113347400-113357400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:113347400-113357400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:113347400-113357600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr2:113347400-113357600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:113347400-113359200	Weak transcription	Brain Germinal Matrix	brain
42	chr2:113347600-113357400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:113347600-113357400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:113347600-113357600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:113347600-113363800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr2:113347800-113357400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:113347800-113357800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:113348400-113357400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:113348400-113357600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:113348600-113357400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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