Variant report

Variant	rs2895570
Chromosome Location	chr11:94463093-94463094
allele	C/T
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]
rs10831271	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11020896	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11020911	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11020912	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11020920	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11020924	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1430858	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1986413	0.95[CEU][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2068908	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4408268	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56197136	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57565482	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72965891	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72967813	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7350489	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7939825	0.83[EUR][1000 genomes]
rs891552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv832234	chr11:94462190-94611845	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv898186	chr11:94463093-94611845	Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2895570	SESN3	cis	cerebellum	SCAN
rs2895570	C11orf75	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94450200-94465000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:94455400-94467800	Weak transcription	Psoas Muscle	Psoas
3	chr11:94458600-94465200	Weak transcription	Right Atrium	heart
4	chr11:94458600-94473200	Weak transcription	Esophagus	oesophagus
5	chr11:94459000-94465000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:94460000-94463600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:94461200-94468200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:94461400-94473200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:94461400-94473400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:94462000-94463400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr11:94462000-94464800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:94462000-94466000	Enhancers	Placenta	Placenta
13	chr11:94462000-94470600	Genic enhancers	NHEK	skin
14	chr11:94462200-94466800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
15	chr11:94462200-94468000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:94462400-94463400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:94462400-94463400	Weak transcription	Hela-S3	cervix
18	chr11:94462400-94463600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:94462400-94464600	Genic enhancers	HMEC	breast
20	chr11:94462400-94465000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:94462400-94465000	Weak transcription	Osteobl	bone
22	chr11:94462400-94466000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:94462400-94469600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr11:94462600-94465000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr11:94462600-94465000	Weak transcription	HSMM	muscle
26	chr11:94462600-94465000	Weak transcription	HSMMtube	muscle
27	chr11:94462600-94465000	Weak transcription	NH-A	brain
28	chr11:94462600-94465200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:94462800-94463200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:94462800-94463200	Weak transcription	NHDF-Ad	bronchial
31	chr11:94462800-94467200	Weak transcription	Fetal Intestine Small	intestine
32	chr11:94463000-94463400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:94463000-94463800	Enhancers	Spleen	Spleen
34	chr11:94463000-94465200	Enhancers	K562	blood
35	chr11:94463000-94465400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:94463000-94467200	Weak transcription	Fetal Intestine Large	intestine

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