Variant report

Variant	rs57845641
Chromosome Location	chr12:105218732-105218733
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	chr12:105212787..105215531-chr12:105216343..105219007,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17036430	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56172532	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56302664	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56745471	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56747454	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56784841	1.00[AMR][1000 genomes]
rs59027081	1.00[AMR][1000 genomes]
rs59568349	1.00[AMR][1000 genomes]
rs59751889	1.00[AMR][1000 genomes]
rs61274096	1.00[AMR][1000 genomes]
rs7300539	1.00[AMR][1000 genomes]
rs7305882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7980760	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9669688	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv899497	chr12:105155291-105247010	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	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	chr12:105199800-105218800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:105201400-105220600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:105211000-105219200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:105211000-105237600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:105214000-105219400	Weak transcription	Psoas Muscle	Psoas
6	chr12:105214200-105221800	Weak transcription	Pancreas	Pancrea
7	chr12:105215800-105219200	Weak transcription	Liver	Liver
8	chr12:105217800-105219200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:105217800-105219200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:105217800-105219800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:105218000-105220000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr12:105218200-105218800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
13	chr12:105218200-105219600	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr12:105218200-105219800	ZNF genes & repeats	Gastric	stomach
15	chr12:105218200-105220000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
16	chr12:105218400-105220000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr12:105218400-105220400	ZNF genes & repeats	Aorta	Aorta
18	chr12:105218400-105220400	ZNF genes & repeats	Fetal Stomach	stomach
19	chr12:105218400-105220400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
20	chr12:105218400-105220800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon

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