Variant report

Variant	rs73550531
Chromosome Location	chr11:108439892-108439893
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12269879	1.00[ASN][1000 genomes]
rs12271580	1.00[ASN][1000 genomes]
rs12271879	1.00[ASN][1000 genomes]
rs12278754	1.00[ASN][1000 genomes]
rs12280686	1.00[ASN][1000 genomes]
rs12286855	1.00[ASN][1000 genomes]
rs12290857	1.00[ASN][1000 genomes]
rs1813558	1.00[ASN][1000 genomes]
rs72999746	1.00[ASN][1000 genomes]
rs9971453	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:22 , 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	chr11:108423600-108441400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:108428600-108442000	Weak transcription	K562	blood
5	chr11:108432800-108441200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:108432800-108441600	Weak transcription	HMEC	breast
7	chr11:108433000-108444000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:108434600-108440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:108434600-108441200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:108434600-108441600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:108434600-108462400	Weak transcription	Gastric	stomach
12	chr11:108436000-108440200	Strong transcription	Placenta	Placenta
13	chr11:108436600-108441600	Weak transcription	Stomach Mucosa	stomach
14	chr11:108437600-108440200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:108438600-108440000	Enhancers	Fetal Muscle Leg	muscle
16	chr11:108438600-108440000	Enhancers	Pancreas	Pancrea
17	chr11:108438600-108440200	Strong transcription	NHEK	skin
18	chr11:108439000-108440800	Enhancers	Liver	Liver
19	chr11:108439200-108442200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:108439400-108443400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr11:108439600-108441400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:108439800-108442000	Weak transcription	Esophagus	oesophagus

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