Variant report

Variant	rs12385938
Chromosome Location	chr15:41237792-41237793
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41237043..41239988-chr15:41288206..41289792,2	K562	blood:
2	chr15:41235426..41238056-chr15:41249028..41251261,4	MCF-7	breast:
3	chr15:41233061..41238851-chr15:41242514..41246532,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128965	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11070311	0.89[ASN][1000 genomes]
rs16971238	0.81[EUR][1000 genomes]
rs1814569	0.91[EUR][1000 genomes]
rs2277538	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2412576	0.92[ASN][1000 genomes]
rs3887640	0.92[ASN][1000 genomes]
rs56829576	0.81[EUR][1000 genomes]
rs57240185	0.81[EUR][1000 genomes]
rs59051743	0.91[EUR][1000 genomes]
rs61173616	0.90[EUR][1000 genomes]
rs7180318	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73402541	0.81[EUR][1000 genomes]
rs74014714	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8028548	0.84[ASN][1000 genomes]
rs8030137	0.90[EUR][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	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv904105	chr15:41149824-41275014	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv904106	chr15:41221067-41259523	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 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	chr15:41235200-41240600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:41235400-41241000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr15:41235400-41241000	Weak transcription	Left Ventricle	heart
4	chr15:41235400-41241400	Weak transcription	Fetal Intestine Small	intestine
5	chr15:41235400-41241400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr15:41235400-41244600	Weak transcription	NHLF	lung
7	chr15:41235600-41238000	Weak transcription	GM12878-XiMat	blood
8	chr15:41235600-41240200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:41235800-41238000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr15:41235800-41244800	Weak transcription	Esophagus	oesophagus
11	chr15:41236000-41239800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:41236000-41241400	Weak transcription	Fetal Thymus	thymus
13	chr15:41236200-41241000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:41236200-41241200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:41236200-41244600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:41236400-41237800	Enhancers	Gastric	stomach
17	chr15:41236400-41241400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr15:41236600-41238600	Enhancers	Stomach Mucosa	stomach
19	chr15:41236600-41241200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:41236600-41241200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:41236800-41237800	Bivalent Enhancer	HepG2	liver
22	chr15:41236800-41238400	Enhancers	Liver	Liver
23	chr15:41237000-41237800	Enhancers	Pancreas	Pancrea
24	chr15:41237200-41241000	Weak transcription	Lung	lung

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