Variant report

Variant	rs57144501
Chromosome Location	chr12:105300899-105300900
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105297810..105300145-chr12:105300569..105303265,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1038969	0.83[ASN][1000 genomes]
rs10778350	0.86[EUR][1000 genomes]
rs11112189	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11834087	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12307301	0.86[EUR][1000 genomes]
rs12320887	0.86[EUR][1000 genomes]
rs12321404	0.86[EUR][1000 genomes]
rs12579202	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12579469	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12579505	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12579945	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12580114	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12580128	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12580794	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12581352	0.81[ASN][1000 genomes]
rs12582312	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17036358	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17036429	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17036433	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17036489	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17036545	0.96[ASN][1000 genomes]
rs4369494	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4545639	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57685442	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59079144	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60976244	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61129422	0.93[ASN][1000 genomes]
rs61262317	0.86[EUR][1000 genomes]
rs61587191	0.86[EUR][1000 genomes]
rs7302213	0.86[EUR][1000 genomes]
rs73383408	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73383420	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73383435	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs73383439	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs73383441	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs73383467	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73383473	0.96[ASN][1000 genomes]
rs73394174	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73394185	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73394186	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73396157	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73396159	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73399912	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73399925	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73399927	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73399929	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73399931	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73399934	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73399944	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73399947	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73399956	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73399960	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73399968	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7971315	0.86[EUR][1000 genomes]
rs7971613	0.86[EUR][1000 genomes]
rs7976092	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105278600-105313800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:105284600-105309000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:105290800-105331600	Weak transcription	Gastric	stomach
4	chr12:105293400-105302600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:105293400-105310000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr12:105293600-105303800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:105293600-105321600	Weak transcription	A549	lung
8	chr12:105297400-105302400	Weak transcription	Placenta	Placenta
9	chr12:105297400-105306600	Weak transcription	Ovary	ovary
10	chr12:105297400-105323600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:105297600-105323400	Weak transcription	Aorta	Aorta
12	chr12:105297800-105313000	Weak transcription	Fetal Stomach	stomach
13	chr12:105298200-105303200	Weak transcription	Adipose Nuclei	Adipose
14	chr12:105298200-105303800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:105298200-105314600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:105298400-105302000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:105300000-105303800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:105300200-105301400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:105300400-105323200	Weak transcription	Pancreas	Pancrea
20	chr12:105300800-105302200	Weak transcription	Liver	Liver

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