Variant report

Variant	rs12275333
Chromosome Location	chr11:108439244-108439245
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr11:108438953-108439280	H1-hESC	embryonic stem cell:	n/a	n/a
2	USF1	chr11:108438948-108439314	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
EXPH5	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11212708	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283455	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945944	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];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:25 , 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	chr11:108424200-108439400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:108428600-108442000	Weak transcription	K562	blood
6	chr11:108432800-108441200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:108432800-108441600	Weak transcription	HMEC	breast
8	chr11:108433000-108444000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:108434600-108440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:108434600-108441200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:108434600-108441600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:108434600-108462400	Weak transcription	Gastric	stomach
13	chr11:108436000-108440200	Strong transcription	Placenta	Placenta
14	chr11:108436400-108439600	Weak transcription	Lung	lung
15	chr11:108436600-108439600	Weak transcription	Esophagus	oesophagus
16	chr11:108436600-108441600	Weak transcription	Stomach Mucosa	stomach
17	chr11:108437600-108440200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:108438200-108439600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:108438600-108440000	Enhancers	Fetal Muscle Leg	muscle
20	chr11:108438600-108440000	Enhancers	Pancreas	Pancrea
21	chr11:108438600-108440200	Strong transcription	NHEK	skin
22	chr11:108439000-108439800	Enhancers	Fetal Muscle Trunk	muscle
23	chr11:108439000-108440800	Enhancers	Liver	Liver
24	chr11:108439200-108439400	Enhancers	HSMMtube	muscle
25	chr11:108439200-108442200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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