Variant report

Variant	rs2009293
Chromosome Location	chr15:78691646-78691647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:78679630..78681837-chr15:78689698..78692156,2	MCF-7	breast:
2	chr15:78691109..78692723-chr15:78696041..78697844,2	K562	blood:
3	chr15:78686256..78688855-chr15:78690068..78692853,2	K562	blood:
4	chr15:78690617..78693319-chr15:78700290..78702195,2	MCF-7	breast:
5	chr15:78689388..78691661-chr15:78857643..78859305,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169684	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs4503760	0.93[CEU][hapmap];0.82[AMR][1000 genomes]
rs4887049	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887050	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4887052	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55642616	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55832521	0.94[EUR][1000 genomes]
rs62010380	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62010386	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62010387	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7179171	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7183387	0.88[EUR][1000 genomes]
rs8042381	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
3	nsv833063	chr15:78605215-78754945	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1052910	chr15:78608637-78707049	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1627	chr15:78683761-78728604	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78667600-78704400	Weak transcription	Lung	lung
2	chr15:78688000-78703800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:78688200-78692000	Weak transcription	Fetal Muscle Leg	muscle
4	chr15:78688800-78692400	Enhancers	Placenta	Placenta
5	chr15:78689000-78692200	Enhancers	Adipose Nuclei	Adipose
6	chr15:78689200-78692200	Enhancers	Fetal Stomach	stomach
7	chr15:78689600-78692000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:78690400-78693000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr15:78690800-78692000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr15:78691000-78691800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr15:78691000-78692400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr15:78691000-78692600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr15:78691200-78691800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr15:78691200-78692000	Weak transcription	Spleen	Spleen
15	chr15:78691200-78692200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:78691400-78691800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr15:78691400-78691800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr15:78691400-78691800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr15:78691400-78691800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr15:78691400-78691800	Enhancers	Brain Cingulate Gyrus	brain
21	chr15:78691400-78692000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr15:78691400-78692000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:78691400-78692000	Enhancers	Fetal Muscle Trunk	muscle
24	chr15:78691400-78692400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr15:78691400-78692400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr15:78691600-78691800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr15:78691600-78691800	Enhancers	Colonic Mucosa	Colon
28	chr15:78691600-78691800	Bivalent Enhancer	K562	blood
29	chr15:78691600-78692000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr15:78691600-78692000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
31	chr15:78691600-78692000	Enhancers	Brain Substantia Nigra	brain
32	chr15:78691600-78692000	Enhancers	Fetal Lung	lung
33	chr15:78691600-78692400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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