Variant report

Variant	rs12290045
Chromosome Location	chr11:108406259-108406260
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	chr11:108336413..108338280-chr11:108405961..108407871,2	K562	blood:
2	chr11:108399695..108402606-chr11:108404147..108406671,2	K562	blood:

Variant related genes	Relation type
ENSG00000166323	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17108112	1.00[EUR][1000 genomes]
rs17108127	1.00[EUR][1000 genomes]
rs17108130	1.00[EUR][1000 genomes]
rs34978242	0.83[ASN][1000 genomes]
rs35717245	1.00[EUR][1000 genomes]
rs60435602	0.83[ASN][1000 genomes]
rs61002469	1.00[ASN][1000 genomes]
rs7106132	1.00[EUR][1000 genomes]
rs7110533	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7926412	1.00[EUR][1000 genomes]
rs7950211	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108370400-108408800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:108371800-108406400	Weak transcription	Gastric	stomach
3	chr11:108381000-108408800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:108385000-108409000	Weak transcription	Fetal Kidney	kidney
5	chr11:108385000-108414000	Weak transcription	HSMM	muscle
6	chr11:108385000-108422800	Weak transcription	Fetal Intestine Small	intestine
7	chr11:108385400-108409200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:108385600-108408400	Weak transcription	Aorta	Aorta
9	chr11:108385600-108408800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:108385600-108409400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:108385600-108412400	Weak transcription	HSMMtube	muscle
12	chr11:108396200-108408800	Strong transcription	Placenta	Placenta
13	chr11:108396200-108408800	Weak transcription	Pancreas	Pancrea
14	chr11:108396400-108409000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:108398800-108407600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:108399200-108408800	Weak transcription	Liver	Liver
17	chr11:108400200-108409000	Weak transcription	Fetal Stomach	stomach
18	chr11:108401000-108406600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:108401000-108407200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:108401400-108409600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:108401600-108408800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:108401600-108420800	Weak transcription	Lung	lung
23	chr11:108401800-108407000	Weak transcription	Esophagus	oesophagus
24	chr11:108401800-108408800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:108403800-108408800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:108405000-108408000	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr11:108405400-108406400	Strong transcription	NHEK	skin
28	chr11:108405600-108407200	Weak transcription	HMEC	breast
29	chr11:108405600-108408800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr11:108406200-108406800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:108406200-108406800	Enhancers	K562	blood

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