Variant report

Variant	rs2640788
Chromosome Location	chr11:108411207-108411208
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2640777	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2640789	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2852184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2852185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2852190	1.00[AMR][1000 genomes]
rs2852191	1.00[AMR][1000 genomes]

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	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108385000-108414000	Weak transcription	HSMM	muscle
2	chr11:108385000-108422800	Weak transcription	Fetal Intestine Small	intestine
3	chr11:108385600-108412400	Weak transcription	HSMMtube	muscle
4	chr11:108401600-108420800	Weak transcription	Lung	lung
5	chr11:108407400-108420000	Weak transcription	Esophagus	oesophagus
6	chr11:108409000-108414400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:108409000-108417200	Weak transcription	Pancreas	Pancrea
8	chr11:108409200-108414400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:108409200-108419400	Weak transcription	K562	blood
10	chr11:108409200-108423000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:108409600-108411600	Strong transcription	Placenta	Placenta
12	chr11:108409600-108414200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:108409600-108422600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:108409800-108413800	Weak transcription	NHEK	skin
15	chr11:108409800-108414200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:108409800-108416600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:108409800-108419600	Weak transcription	Liver	Liver
18	chr11:108409800-108422200	Weak transcription	Fetal Kidney	kidney
19	chr11:108409800-108422200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:108410000-108422800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:108410200-108411800	Weak transcription	HMEC	breast
22	chr11:108410200-108413800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:108410200-108422000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:108410200-108422400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:108410600-108414000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:108411200-108412000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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