Variant report

Variant	rs11709290
Chromosome Location	chr3:138184885-138184886
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10935282	0.90[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11916525	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs12490633	0.95[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs12630060	0.82[JPT][hapmap]
rs12632794	0.82[JPT][hapmap]
rs12635490	0.86[JPT][hapmap]
rs12635904	0.82[JPT][hapmap]
rs12636246	0.90[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs12636910	0.90[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap]
rs12637679	0.82[JPT][hapmap]
rs13059817	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs13062423	0.82[JPT][hapmap]
rs13084780	0.82[JPT][hapmap]
rs13098554	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs13098789	0.81[ASN][1000 genomes]
rs1563615	0.82[JPT][hapmap]
rs1625751	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1672927	1.00[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs1672928	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs1672932	1.00[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs1673608	0.95[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs1673622	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1679165	0.99[ASN][1000 genomes]
rs1679168	0.90[TSI][hapmap]
rs1679169	0.94[ASN][1000 genomes]
rs1720833	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2086351	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2347469	0.87[CEU][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs35270255	0.80[ASN][1000 genomes]
rs35471402	0.83[ASN][1000 genomes]
rs3813264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3884240	0.95[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3884241	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4678266	0.87[ASN][1000 genomes]
rs4678420	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs497334	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs503922	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap]
rs529615	0.95[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs542010	0.95[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap]
rs56236670	0.83[ASN][1000 genomes]
rs564800	0.95[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap]
rs609797	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap]
rs6439809	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6439810	0.95[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs66644444	0.90[ASN][1000 genomes]
rs67037472	0.91[ASN][1000 genomes]
rs6762114	0.81[ASN][1000 genomes]
rs6763380	0.98[ASN][1000 genomes]
rs6771237	0.80[ASN][1000 genomes]
rs73229526	0.80[ASN][1000 genomes]
rs7626226	0.83[ASN][1000 genomes]
rs7645920	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs773450	1.00[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs774007	0.80[EUR][1000 genomes]
rs774008	0.87[CEU][hapmap];0.81[TSI][hapmap]
rs774011	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs774012	0.88[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs808925	0.84[CEU][hapmap]
rs814022	0.95[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs9049	0.82[JPT][hapmap]
rs936316	0.95[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs9822037	0.83[ASN][1000 genomes]
rs9823182	0.80[ASN][1000 genomes]
rs9848938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9855306	0.91[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv3447663	chr3:138096329-138273034	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv460864	chr3:138100539-138194435	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv591853	chr3:138100539-138194435	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv999041	chr3:138148812-138347988	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv522517	chr3:138174523-138297982	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11709290	CEP70	cis	parietal	SCAN
rs11709290	CLDN18	cis	parietal	SCAN
rs11709290	CEP70	cis	Muscle Skeletal	GTEx
rs11709290	FAIM	cis	parietal	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138161600-138198400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr3:138170800-138198400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:138171000-138193000	Weak transcription	Pancreas	Pancrea
4	chr3:138171200-138185400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:138171400-138198400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr3:138175200-138196000	Weak transcription	Brain Anterior Caudate	brain
7	chr3:138176800-138187200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:138177600-138187200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:138177600-138195400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:138178000-138197000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:138178200-138196000	Weak transcription	Aorta	Aorta
12	chr3:138178600-138187000	Weak transcription	Right Atrium	heart
13	chr3:138178800-138188800	Weak transcription	Right Ventricle	heart
14	chr3:138179800-138188600	Weak transcription	Fetal Intestine Small	intestine
15	chr3:138179800-138199400	Weak transcription	Thymus	Thymus
16	chr3:138180400-138185600	Weak transcription	Brain Angular Gyrus	brain
17	chr3:138180800-138185600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:138180800-138187400	Weak transcription	NHDF-Ad	bronchial
19	chr3:138181000-138187600	Weak transcription	HSMM	muscle
20	chr3:138181200-138192400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:138182800-138185600	Enhancers	HSMMtube	muscle
22	chr3:138182800-138187400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:138182800-138187800	Strong transcription	Lung	lung
24	chr3:138183200-138185000	Strong transcription	Stomach Smooth Muscle	stomach
25	chr3:138183200-138187600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:138183400-138186400	Weak transcription	Psoas Muscle	Psoas
27	chr3:138183600-138187000	Weak transcription	Colon Smooth Muscle	Colon
28	chr3:138184400-138186200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr3:138184400-138187000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr3:138184400-138188200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr3:138184400-138191200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:138184400-138198400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:138184600-138185000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr3:138184600-138185000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr3:138184600-138185200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:138184600-138185400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr3:138184600-138186200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:138184600-138186200	Weak transcription	Fetal Stomach	stomach
39	chr3:138184800-138185000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:138184800-138185200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr3:138184800-138186400	Weak transcription	Fetal Muscle Leg	muscle

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