Variant report

Variant	rs1993893
Chromosome Location	chr15:39753062-39753063
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:39751402..39753741-chr15:39756620..39758382,2	MCF-7	breast:
2	chr15:39745636..39749475-chr15:39752031..39754404,4	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11070204	0.86[ASN][1000 genomes]
rs1158918	0.89[ASN][1000 genomes]
rs11633970	0.80[ASN][1000 genomes]
rs11857561	0.84[ASN][1000 genomes]
rs12438465	0.89[ASN][1000 genomes]
rs12593294	0.91[ASN][1000 genomes]
rs12899217	0.89[ASN][1000 genomes]
rs1812583	0.91[ASN][1000 genomes]
rs1947782	0.89[ASN][1000 genomes]
rs1993892	0.96[ASN][1000 genomes]
rs2086166	0.96[ASN][1000 genomes]
rs2127029	0.96[ASN][1000 genomes]
rs2411293	0.86[ASN][1000 genomes]
rs34329697	0.80[ASN][1000 genomes]
rs4244571	0.96[ASN][1000 genomes]
rs4924361	0.87[ASN][1000 genomes]
rs4924363	0.82[ASN][1000 genomes]
rs59431794	0.80[ASN][1000 genomes]
rs60697424	0.87[ASN][1000 genomes]
rs6492888	0.84[ASN][1000 genomes]
rs7171244	0.89[ASN][1000 genomes]
rs7178351	0.84[ASN][1000 genomes]
rs7180041	0.84[ASN][1000 genomes]
rs7350779	0.84[ASN][1000 genomes]
rs74008200	0.82[ASN][1000 genomes]
rs74010438	0.89[ASN][1000 genomes]
rs8030260	0.82[ASN][1000 genomes]
rs8032900	0.93[ASN][1000 genomes]
rs8033214	0.84[ASN][1000 genomes]
rs9888722	0.89[ASN][1000 genomes]
rs9920539	0.96[ASN][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	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1042824	chr15:39676039-39757222	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv542362	chr15:39676039-39757222	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv904094	chr15:39738006-39976057	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39740000-39759400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr15:39744600-39753400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr15:39748200-39753400	Weak transcription	HSMMtube	muscle
4	chr15:39748200-39753800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr15:39748200-39754000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr15:39748400-39753200	Weak transcription	K562	blood
7	chr15:39748600-39753600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr15:39748600-39754000	Weak transcription	NHLF	lung
9	chr15:39748800-39753600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:39748800-39753600	Weak transcription	Osteobl	bone
11	chr15:39749000-39753400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:39749400-39753200	Weak transcription	Adipose Nuclei	Adipose
13	chr15:39749400-39754000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:39749600-39753200	Weak transcription	Fetal Stomach	stomach
15	chr15:39749600-39753400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:39749600-39753400	Weak transcription	Fetal Lung	lung
17	chr15:39749600-39753400	Weak transcription	Right Atrium	heart
18	chr15:39752400-39753600	Enhancers	Pancreas	Pancrea
19	chr15:39752800-39755200	Enhancers	Fetal Muscle Leg	muscle
20	chr15:39753000-39753200	Enhancers	Fetal Heart	heart
21	chr15:39753000-39753200	Enhancers	Spleen	Spleen
22	chr15:39753000-39753400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:39753000-39754200	Enhancers	Fetal Muscle Trunk	muscle
24	chr15:39753000-39755600	Enhancers	NHDF-Ad	bronchial

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