Variant report

Variant	rs2640760
Chromosome Location	chr11:108428163-108428164
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	chr11:108422629..108424538-chr11:108427034..108429329,2	K562	blood:
2	chr11:108421413..108424228-chr11:108426338..108429813,4	K562	blood:

Variant related genes	Relation type
ENSG00000110723	Chromatin interaction

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

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

rs_ID	r²[population]
rs12785479	1.00[ASN][1000 genomes]
rs12798793	1.00[ASN][1000 genomes]
rs34605660	1.00[ASN][1000 genomes]
rs34713876	1.00[ASN][1000 genomes]
rs34720368	1.00[ASN][1000 genomes]
rs71489907	1.00[ASN][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108417200-108441400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:108422400-108441600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:108423000-108436000	Weak transcription	Fetal Intestine Small	intestine
4	chr11:108423200-108429600	Weak transcription	NHLF	lung
5	chr11:108423400-108429000	Weak transcription	HSMMtube	muscle
6	chr11:108423400-108429000	Weak transcription	NHEK	skin
7	chr11:108423400-108430000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:108423400-108432200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:108423400-108432400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:108423400-108436000	Weak transcription	Liver	Liver
11	chr11:108423600-108429200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:108423600-108441400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:108423800-108432200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:108424200-108439400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:108425200-108430600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:108426200-108428600	Enhancers	K562	blood
17	chr11:108426400-108432600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:108427400-108429400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:108427600-108428400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:108427600-108428400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:108427800-108428200	Weak transcription	Placenta	Placenta
22	chr11:108427800-108430800	Enhancers	GM12878-XiMat	blood
23	chr11:108427800-108432200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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