Variant report

Variant	rs7107909
Chromosome Location	chr11:102079986-102079987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10791566	0.85[EUR][1000 genomes]
rs10791569	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10895269	0.88[CEU][hapmap];0.81[CHB][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs10895270	0.89[EUR][1000 genomes]
rs10895271	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10895272	0.85[MEX][hapmap]
rs10895277	0.80[MEX][hapmap]
rs11225153	0.85[EUR][1000 genomes]
rs11225169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11225170	0.85[MEX][hapmap]
rs12222063	0.85[EUR][1000 genomes]
rs1820454	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1942683	0.81[CHB][hapmap]
rs2114308	0.89[EUR][1000 genomes]
rs2282652	0.80[MEX][hapmap]
rs2846836	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2846837	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4420227	0.92[CEU][hapmap];0.81[CHB][hapmap];0.84[GIH][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs4475891	0.80[MEX][hapmap]
rs4561174	0.92[CEU][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs4754836	0.86[EUR][1000 genomes]
rs61893575	0.86[EUR][1000 genomes]
rs7104685	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7106107	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7110355	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7120067	0.80[MEX][hapmap]
rs8504	0.80[MEX][hapmap]

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
rs7107909	CASP1	cis	parietal	SCAN

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102043800-102100400	Weak transcription	Pancreas	Pancrea
2	chr11:102059600-102100400	Weak transcription	Gastric	stomach
3	chr11:102062800-102096400	Weak transcription	Small Intestine	intestine
4	chr11:102063800-102096600	Weak transcription	Stomach Mucosa	stomach
5	chr11:102064000-102094400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:102064000-102105400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:102069000-102080200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:102069000-102088400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:102069200-102080800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:102071400-102094400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:102073400-102084200	Strong transcription	Fetal Lung	lung
12	chr11:102074000-102081000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:102074000-102097000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:102074000-102104200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:102075200-102091400	Weak transcription	Aorta	Aorta
16	chr11:102075400-102105600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:102075600-102085000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:102075600-102085000	Weak transcription	Fetal Heart	heart
19	chr11:102076000-102080000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:102076000-102081200	Strong transcription	NHLF	lung
21	chr11:102076200-102081600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:102076200-102084600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:102076200-102085200	Strong transcription	HSMM	muscle
24	chr11:102076200-102091000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:102076200-102102200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:102076400-102081200	Strong transcription	NHEK	skin
27	chr11:102076400-102083200	Strong transcription	Hela-S3	cervix
28	chr11:102076400-102083800	Strong transcription	HepG2	liver
29	chr11:102076400-102086600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:102076600-102080400	Strong transcription	Adipose Nuclei	Adipose
31	chr11:102076600-102080800	Strong transcription	HSMMtube	muscle
32	chr11:102076600-102081400	Strong transcription	NH-A	brain
33	chr11:102076600-102081400	Strong transcription	NHDF-Ad	bronchial
34	chr11:102076600-102081800	Strong transcription	Fetal Muscle Leg	muscle
35	chr11:102076600-102083400	Strong transcription	HMEC	breast
36	chr11:102076600-102083600	Strong transcription	Liver	Liver
37	chr11:102076600-102083800	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr11:102076600-102084400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:102076600-102084600	Strong transcription	Placenta	Placenta
40	chr11:102076600-102084800	Strong transcription	Fetal Muscle Trunk	muscle
41	chr11:102076600-102084800	Strong transcription	Fetal Stomach	stomach
42	chr11:102076600-102085200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:102076600-102086600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:102076600-102090200	Strong transcription	Osteobl	bone
45	chr11:102076600-102093400	Strong transcription	Fetal Intestine Large	intestine
46	chr11:102076800-102080000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:102076800-102080000	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr11:102076800-102081200	Strong transcription	Ovary	ovary
49	chr11:102076800-102081400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:102076800-102085000	Strong transcription	Placenta Amnion	Placenta Amnion

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