Variant report

Variant	rs2772398
Chromosome Location	chr9:18440094-18440095
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:18436804..18438586-chr9:18439890..18441991,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10738509	0.81[EUR][1000 genomes]
rs10756962	0.83[EUR][1000 genomes]
rs11789537	0.86[ASN][1000 genomes]
rs2791455	0.95[ASN][1000 genomes]
rs2791456	0.95[ASN][1000 genomes]
rs5026813	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7043305	0.93[ASN][1000 genomes]
rs9406749	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9406750	0.88[ASN][1000 genomes]
rs9407912	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831522	chr9:18231982-18459492	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2764161	chr9:18247433-18443060	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv892688	chr9:18385143-18551247	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18438400-18440600	Enhancers	Fetal Heart	heart
2	chr9:18438400-18441200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:18439000-18442400	Weak transcription	HMEC	breast
4	chr9:18439000-18442800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr9:18439000-18442800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr9:18439000-18442800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:18439000-18446800	Weak transcription	NHLF	lung
8	chr9:18439200-18441400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:18439200-18441400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr9:18439200-18441400	Weak transcription	Colon Smooth Muscle	Colon
11	chr9:18439200-18441400	Weak transcription	HSMMtube	muscle
12	chr9:18439200-18441400	Weak transcription	NHDF-Ad	bronchial
13	chr9:18439200-18441400	Weak transcription	Osteobl	bone
14	chr9:18439200-18441600	Weak transcription	NH-A	brain
15	chr9:18439200-18442400	Weak transcription	NHEK	skin
16	chr9:18439200-18442800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:18439200-18442800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:18439200-18442800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:18439200-18442800	Weak transcription	Aorta	Aorta
20	chr9:18439200-18442800	Weak transcription	Liver	Liver
21	chr9:18439200-18442800	Weak transcription	Brain Hippocampus Middle	brain
22	chr9:18439200-18442800	Weak transcription	Hela-S3	cervix
23	chr9:18439200-18446600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr9:18439200-18447200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:18439200-18447200	Weak transcription	Fetal Lung	lung
26	chr9:18439200-18447200	Weak transcription	Left Ventricle	heart
27	chr9:18439200-18447200	Weak transcription	Lung	lung
28	chr9:18439200-18447400	Weak transcription	Right Atrium	heart
29	chr9:18439200-18447600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr9:18439400-18441000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:18439400-18441200	Weak transcription	HSMM	muscle
32	chr9:18439400-18441400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr9:18439400-18441800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr9:18439400-18442200	Weak transcription	HUVEC	blood vessel
35	chr9:18439400-18442800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr9:18439400-18442800	Weak transcription	Brain Angular Gyrus	brain
37	chr9:18439400-18446600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr9:18439400-18446800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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