Variant report

Variant	rs2050575
Chromosome Location	chr9:101079606-101079607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:101078185..101080834-chr9:101469551..101472431,2	K562	blood:
2	chr9:101077814..101081761-chr9:101084202..101087593,3	K562	blood:
3	chr9:101078079..101080070-chr9:101458096..101460351,2	K562	blood:
4	chr9:101078496..101080215-chr9:101367427..101369549,2	MCF-7	breast:
5	chr9:101078759..101081251-chr9:101450781..101452360,2	K562	blood:

Variant related genes	Relation type
ENSG00000136928	Chromatin interaction
ENSG00000229897	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10125738	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12345664	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs16914245	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs16914425	0.84[EUR][1000 genomes]
rs57094433	0.84[EUR][1000 genomes]
rs57262924	0.84[EUR][1000 genomes]
rs57583651	0.84[EUR][1000 genomes]
rs58106044	0.84[EUR][1000 genomes]
rs58523842	0.84[EUR][1000 genomes]
rs58811309	0.84[EUR][1000 genomes]
rs59313219	0.84[EUR][1000 genomes]
rs60489972	0.84[EUR][1000 genomes]
rs60522491	0.84[EUR][1000 genomes]
rs61349713	0.84[EUR][1000 genomes]
rs61752516	0.84[EUR][1000 genomes]
rs7032496	0.84[EUR][1000 genomes]
rs7048858	0.84[EUR][1000 genomes]
rs73488716	0.84[EUR][1000 genomes]
rs73488726	0.84[EUR][1000 genomes]
rs73488743	0.84[EUR][1000 genomes]
rs73488748	0.84[EUR][1000 genomes]
rs73488767	0.84[EUR][1000 genomes]
rs73488773	0.84[EUR][1000 genomes]
rs73488774	0.84[EUR][1000 genomes]
rs73488777	0.84[EUR][1000 genomes]
rs73488779	0.84[EUR][1000 genomes]
rs73488785	0.84[EUR][1000 genomes]
rs73488791	0.84[EUR][1000 genomes]
rs73490716	0.84[EUR][1000 genomes]
rs73490724	0.84[EUR][1000 genomes]
rs73490729	0.84[EUR][1000 genomes]
rs73490751	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv831663	chr9:100941048-101109492	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1045780	chr9:100943318-101080389	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv540180	chr9:100943318-101080389	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv831664	chr9:101024862-101205637	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv519818	chr9:101024887-101092316	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	Chromatin interactive region	10 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	chr9:101061600-101083400	Weak transcription	Brain Angular Gyrus	brain
2	chr9:101069000-101085800	Weak transcription	Right Atrium	heart
3	chr9:101075400-101082200	Enhancers	K562	blood
4	chr9:101076400-101079800	Enhancers	Placenta	Placenta
5	chr9:101077400-101081200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:101077600-101080400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:101078000-101080400	Enhancers	HUVEC	blood vessel
8	chr9:101078200-101080000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:101078400-101083600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:101078400-101086000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr9:101078400-101088800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:101078800-101080200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr9:101078800-101080400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr9:101079000-101080400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:101079000-101080400	Enhancers	NH-A	brain
16	chr9:101079000-101082200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:101079000-101082200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:101079200-101079800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:101079200-101079800	Enhancers	HSMMtube	muscle
20	chr9:101079200-101080600	Enhancers	NHDF-Ad	bronchial
21	chr9:101079200-101085400	Weak transcription	NHLF	lung
22	chr9:101079400-101079800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr9:101079400-101079800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr9:101079400-101080400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr9:101079600-101080200	Enhancers	Osteobl	bone

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