Variant report

Variant	rs7934495
Chromosome Location	chr11:101918686-101918687
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10160773	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10466638	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10750625	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10750626	0.82[CHB][hapmap]
rs10750627	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10791553	0.82[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs10791554	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10791556	0.82[CHB][hapmap]
rs10791559	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10791560	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10791562	0.92[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10791563	1.00[JPT][hapmap]
rs10895238	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10895243	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10895245	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10895250	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10895256	0.81[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs11225114	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11225115	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12365066	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12806276	0.82[ASN][1000 genomes]
rs1820453	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs1942684	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2212759	0.84[ASN][1000 genomes]
rs4754038	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6590944	0.83[ASN][1000 genomes]
rs6590945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6590946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7106388	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs7110790	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7111721	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7123006	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7127954	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7129562	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7928958	0.82[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs7936168	0.84[EUR][1000 genomes]
rs7943098	0.82[CHB][hapmap]

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	esv3362945	chr11:101736547-102114246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv898333	chr11:101832670-102079986	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3351862	chr11:101897791-101931442	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7934495	CASP1	cis	parietal	SCAN
rs7934495	C11orf70	cis	cerebellum	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101917600-101919000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:101917600-101919000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:101917600-101919000	Active TSS	NHDF-Ad	bronchial
4	chr11:101917600-101919200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:101917800-101918800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr11:101917800-101918800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr11:101917800-101918800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:101917800-101918800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr11:101917800-101918800	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr11:101917800-101918800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:101917800-101918800	Active TSS	Aorta	Aorta
12	chr11:101917800-101918800	Active TSS	Brain Cingulate Gyrus	brain
13	chr11:101917800-101918800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:101917800-101918800	Active TSS	Brain Substantia Nigra	brain
15	chr11:101917800-101918800	Active TSS	Colon Smooth Muscle	Colon
16	chr11:101917800-101918800	Active TSS	Duodenum Mucosa	Duodenum
17	chr11:101917800-101918800	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr11:101917800-101918800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
19	chr11:101917800-101918800	Active TSS	HSMMtube	muscle
20	chr11:101917800-101918800	Flanking Active TSS	HUVEC	blood vessel
21	chr11:101917800-101919000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:101917800-101919000	Active TSS	Brain Anterior Caudate	brain
23	chr11:101917800-101919000	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr11:101917800-101919000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
25	chr11:101917800-101919000	Active TSS	Fetal Kidney	kidney
26	chr11:101917800-101919000	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr11:101917800-101919000	Active TSS	Right Ventricle	heart
28	chr11:101917800-101919000	Active TSS	A549	lung
29	chr11:101917800-101919000	Active TSS	HSMM	muscle
30	chr11:101917800-101919000	Active TSS	NH-A	brain
31	chr11:101917800-101919200	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr11:101917800-101919200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:101917800-101919200	Active TSS	Fetal Brain Female	brain
34	chr11:101917800-101919200	Flanking Active TSS	NHEK	skin
35	chr11:101917800-101919200	Active TSS	NHLF	lung
36	chr11:101917800-101919400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:101918000-101918800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:101918000-101918800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:101918000-101918800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:101918000-101918800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
41	chr11:101918000-101918800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:101918000-101918800	Active TSS	Muscle Satellite Cultured Cells	--
43	chr11:101918000-101918800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
44	chr11:101918000-101918800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
45	chr11:101918000-101918800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
46	chr11:101918000-101918800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
47	chr11:101918000-101918800	Active TSS	Stomach Mucosa	stomach
48	chr11:101918000-101918800	Flanking Active TSS	HMEC	breast
49	chr11:101918000-101919000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:101918000-101919000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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