Variant report

Variant	rs12505163
Chromosome Location	chr4:152504377-152504378
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152497358..152500298-chr4:152502845..152505045,2	K562	blood:

Variant related genes	Relation type
ENSG00000253019	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10021998	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10155290	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12647742	0.85[AFR][1000 genomes]
rs1443093	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28505227	0.85[EUR][1000 genomes]
rs28665936	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7663615	1.00[CEU][hapmap];0.93[CHB][hapmap];0.86[EUR][1000 genomes]
rs7685383	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9631757	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv880624	chr4:152280646-152549112	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv881342	chr4:152363772-152560449	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv830114	chr4:152401288-152548606	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr4:152476600-152526600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:152484800-152518600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:152485600-152509600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:152491200-152519000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:152496600-152526600	Weak transcription	Gastric	stomach
6	chr4:152496800-152530000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr4:152497200-152505200	Weak transcription	HMEC	breast
8	chr4:152497600-152504400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:152498000-152513600	Weak transcription	Ovary	ovary
10	chr4:152499200-152504400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:152499200-152511800	Weak transcription	Aorta	Aorta
12	chr4:152499200-152521200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr4:152499200-152567600	Weak transcription	Pancreas	Pancrea
14	chr4:152500000-152511600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr4:152500200-152505200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:152501800-152504800	Weak transcription	NHEK	skin
17	chr4:152502600-152505600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr4:152503000-152504600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr4:152503400-152504600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:152503800-152504600	Weak transcription	Brain Substantia Nigra	brain
21	chr4:152503800-152505000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:152504000-152504400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr4:152504200-152504600	Enhancers	Brain Angular Gyrus	brain
24	chr4:152504200-152505400	Enhancers	Fetal Brain Male	brain
25	chr4:152504200-152506400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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