Variant report

Variant	rs2852191
Chromosome Location	chr11:108424496-108424497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108422127..108426041-chr11:108463043..108466411,3	K562	blood:
2	chr11:108418879..108421922-chr11:108422966..108427217,5	K562	blood:

Variant related genes	Relation type
ENSG00000110723	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10502102	1.00[ASN][1000 genomes]
rs11821101	1.00[ASN][1000 genomes]
rs17108175	1.00[ASN][1000 genomes]
rs1940213	0.87[ASN][1000 genomes]
rs2004820	1.00[ASN][1000 genomes]
rs2640777	1.00[AMR][1000 genomes]
rs2640788	1.00[AMR][1000 genomes]
rs2640789	1.00[AMR][1000 genomes]
rs2852184	1.00[AMR][1000 genomes]
rs2852185	1.00[AMR][1000 genomes]
rs2852190	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4568972	1.00[ASN][1000 genomes]
rs7949145	1.00[TSI][hapmap]

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	chr11:108420800-108427600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:108422400-108441600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:108422800-108425800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:108423000-108436000	Weak transcription	Fetal Intestine Small	intestine
6	chr11:108423200-108427600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:108423200-108429600	Weak transcription	NHLF	lung
8	chr11:108423400-108427000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:108423400-108429000	Weak transcription	HSMMtube	muscle
10	chr11:108423400-108429000	Weak transcription	NHEK	skin
11	chr11:108423400-108430000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:108423400-108432200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:108423400-108432400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:108423400-108436000	Weak transcription	Liver	Liver
15	chr11:108423600-108424600	Enhancers	K562	blood
16	chr11:108423600-108426800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:108423600-108427400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:108423600-108427600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:108423600-108429200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:108423600-108441400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:108423800-108432200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:108424200-108439400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr11:108424400-108426000	Strong transcription	Placenta	Placenta

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