Variant report

Variant	rs10179447
Chromosome Location	chr2:37578208-37578209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10196818	0.98[ASN][1000 genomes]
rs10865124	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11124566	1.00[JPT][hapmap]
rs11124581	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2372998	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2372999	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3770751	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3770755	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3770756	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3821142	0.81[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4670692	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6708524	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7600995	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv2685	chr2:37550096-37594923	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10179447	QPCT	cis	parietal	SCAN
rs10179447	PRKD3	cis	parietal	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37572600-37595400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:37573600-37578800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:37575000-37578600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:37575200-37578400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:37575200-37578600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:37576000-37578600	Enhancers	NHDF-Ad	bronchial
7	chr2:37576000-37578800	Enhancers	Colon Smooth Muscle	Colon
8	chr2:37576200-37579400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:37576600-37578400	Enhancers	Fetal Kidney	kidney
10	chr2:37576600-37578600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:37576800-37578400	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr2:37576800-37578600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:37576800-37579000	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr2:37576800-37581400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:37577000-37578400	Enhancers	Fetal Intestine Small	intestine
16	chr2:37577000-37578600	Enhancers	Stomach Mucosa	stomach
17	chr2:37577000-37590600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:37577200-37578400	Enhancers	Fetal Intestine Large	intestine
19	chr2:37577200-37578400	Enhancers	Fetal Lung	lung
20	chr2:37577200-37578400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr2:37577200-37578600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:37577200-37578600	Enhancers	Osteobl	bone
23	chr2:37577200-37578800	Enhancers	HMEC	breast
24	chr2:37577200-37579800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr2:37577400-37607000	Weak transcription	Spleen	Spleen
26	chr2:37577600-37578600	Enhancers	NHEK	skin
27	chr2:37577600-37581600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:37577600-37588600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:37577800-37583200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:37577800-37583200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:37577800-37589000	Weak transcription	Left Ventricle	heart
32	chr2:37578000-37578400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:37578000-37578400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr2:37578000-37578600	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr2:37578000-37578800	Enhancers	HepG2	liver
36	chr2:37578200-37578400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:37578200-37578400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:37578200-37578400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr2:37578200-37578600	Enhancers	A549	lung
40	chr2:37578200-37578600	Enhancers	Hela-S3	cervix
41	chr2:37578200-37579400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:37578200-37605400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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