Variant report

Variant	rs10895266
Chromosome Location	chr11:102027895-102027896
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	chr11:102026679..102028965-chr11:102030794..102032786,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10750627	0.85[YRI][hapmap]
rs10750632	0.80[EUR][1000 genomes]
rs10750633	0.82[CHB][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10750634	0.85[CHB][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10791564	0.86[EUR][1000 genomes]
rs10791565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10895245	0.84[YRI][hapmap]
rs10895256	0.82[MEX][hapmap];0.86[YRI][hapmap]
rs10895258	0.81[EUR][1000 genomes]
rs10895259	0.80[EUR][1000 genomes]
rs10895261	0.85[EUR][1000 genomes]
rs10895262	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10895263	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10895264	0.82[CHB][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs10895265	0.83[ASN][1000 genomes]
rs11225134	0.80[EUR][1000 genomes]
rs11225135	0.83[JPT][hapmap];0.81[EUR][1000 genomes]
rs11225139	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11225141	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11225146	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11225147	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11225149	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11225151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11603468	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11607135	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12223094	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12796162	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1365330	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1426392	0.83[CHB][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1426394	0.87[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs1834595	0.81[EUR][1000 genomes]
rs1834596	0.83[CHB][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1893497	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1895917	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1942680	0.81[EUR][1000 genomes]
rs1942688	0.80[EUR][1000 genomes]
rs1942689	0.82[CHB][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs1942690	0.80[EUR][1000 genomes]
rs1942691	0.82[JPT][hapmap]
rs2003357	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2019070	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3890538	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4329661	0.86[EUR][1000 genomes]
rs4442513	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4754833	0.87[CHB][hapmap];0.83[JPT][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4754834	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60304309	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61538959	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6590949	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7106388	0.82[MEX][hapmap]
rs7108698	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7108820	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7117239	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7123862	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7124280	0.81[CHB][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7126535	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7127597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7130772	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7483889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7924449	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7924737	0.87[CHB][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7927957	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7928547	0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs7938172	0.86[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs948737	0.87[CHB][hapmap];0.83[JPT][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9787890	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers 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 target site	11 gene(s)	inside rSNPs	diseases
6	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv832251	chr11:102012295-102181744	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv1043388	chr11:102017719-102172857	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10895266	CASP1	cis	parietal	SCAN

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101998600-102033000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:101998600-102034200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:102000800-102034000	Weak transcription	Lung	lung
4	chr11:102005800-102033000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:102010200-102032400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:102010400-102039000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:102012600-102028600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:102012600-102034200	Weak transcription	Fetal Muscle Leg	muscle
9	chr11:102014800-102028400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:102015800-102033200	Weak transcription	Spleen	Spleen
11	chr11:102016000-102028800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:102016000-102033200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:102017200-102033000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:102018600-102028000	Weak transcription	HSMM	muscle
15	chr11:102020400-102049000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:102022400-102028000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:102022800-102029800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:102023000-102030600	Enhancers	Fetal Lung	lung
19	chr11:102023200-102029800	Weak transcription	Gastric	stomach
20	chr11:102023400-102034000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:102023800-102028600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:102023800-102029200	Weak transcription	Left Ventricle	heart
23	chr11:102023800-102031000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:102023800-102032600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:102023800-102033000	Weak transcription	Right Atrium	heart
26	chr11:102023800-102033000	Weak transcription	Right Ventricle	heart
27	chr11:102023800-102034000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:102024000-102029800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:102024000-102034000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:102025000-102030200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:102025400-102028200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:102025400-102029400	Enhancers	Osteobl	bone
33	chr11:102025600-102028400	Enhancers	NHEK	skin
34	chr11:102025600-102028600	Enhancers	NHDF-Ad	bronchial
35	chr11:102025600-102029800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr11:102025600-102039000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:102025800-102033000	Weak transcription	Fetal Stomach	stomach
38	chr11:102026000-102029400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:102026000-102029400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:102026000-102029400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr11:102026200-102028200	Enhancers	Psoas Muscle	Psoas
42	chr11:102026200-102028600	Enhancers	NHLF	lung
43	chr11:102026200-102028800	Enhancers	Colon Smooth Muscle	Colon
44	chr11:102026200-102030000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:102026200-102030000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:102026200-102030000	Enhancers	HMEC	breast
47	chr11:102026400-102028200	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr11:102026400-102029200	Enhancers	A549	lung
49	chr11:102026400-102029600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:102026400-102030000	Enhancers	Ovary	ovary

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