Variant report

Variant	rs11195340
Chromosome Location	chr10:112573182-112573183
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10787283	0.85[CEU][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10885053	0.82[AMR][1000 genomes]
rs10885054	0.81[CEU][hapmap]
rs10885055	0.88[CEU][hapmap];0.81[AMR][1000 genomes]
rs12573386	0.81[JPT][hapmap]
rs1417634	0.88[EUR][1000 genomes]
rs1832745	0.82[CEU][hapmap];0.83[CHB][hapmap];0.80[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1923807	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1980689	0.87[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4918595	0.86[EUR][1000 genomes]
rs4918598	0.81[EUR][1000 genomes]
rs4918599	0.85[CEU][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4918600	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs4918601	0.83[CEU][hapmap]
rs7072681	0.88[CEU][hapmap];0.89[MEX][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs726804	0.85[CEU][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs7922732	0.87[CEU][hapmap]

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	nsv1045608	chr10:112524813-112677557	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1041758	chr10:112552897-112677557	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11195340	SORCS1	cis	parietal	SCAN
rs11195340	PDCD4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112558000-112578400	Weak transcription	Aorta	Aorta
2	chr10:112562800-112576800	Weak transcription	Psoas Muscle	Psoas
3	chr10:112564000-112581600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:112564200-112575000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr10:112564200-112579200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:112565400-112576000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr10:112565600-112574800	Weak transcription	Colon Smooth Muscle	Colon
8	chr10:112567400-112576200	Weak transcription	HSMMtube	muscle
9	chr10:112568000-112575200	Weak transcription	Esophagus	oesophagus
10	chr10:112568400-112573600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr10:112568400-112575800	Weak transcription	Gastric	stomach
12	chr10:112568600-112577400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr10:112568800-112573800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr10:112569000-112573600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr10:112569000-112578000	Weak transcription	Colonic Mucosa	Colon
16	chr10:112570200-112576200	Weak transcription	Pancreas	Pancrea
17	chr10:112571000-112575600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr10:112571800-112573200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr10:112571800-112573200	Genic enhancers	Left Ventricle	heart
20	chr10:112572000-112573200	Enhancers	Placenta	Placenta
21	chr10:112572200-112574400	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr10:112572200-112577600	Weak transcription	Adipose Nuclei	Adipose
23	chr10:112572400-112574000	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr10:112572400-112575800	Enhancers	Fetal Intestine Large	intestine
25	chr10:112572400-112575800	Enhancers	Fetal Intestine Small	intestine
26	chr10:112572400-112575800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr10:112572400-112575800	Weak transcription	Right Atrium	heart
28	chr10:112572600-112573400	Strong transcription	K562	blood
29	chr10:112572600-112574000	Enhancers	HepG2	liver
30	chr10:112572600-112575800	Weak transcription	Lung	lung
31	chr10:112572600-112576800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr10:112572600-112593800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:112572800-112577800	Genic enhancers	Fetal Heart	heart
34	chr10:112572800-112581400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:112572800-112582200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr10:112573000-112573200	Enhancers	Right Ventricle	heart
37	chr10:112573000-112573200	Enhancers	Stomach Mucosa	stomach
38	chr10:112573000-112578800	Enhancers	Primary T cells from cord blood	blood

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