Variant report

Variant	rs12776639
Chromosome Location	chr10:52609914-52609915
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:52568484..52571195-chr10:52609335..52611357,3	K562	blood:
2	chr10:52603109..52605010-chr10:52608525..52610040,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10508934	0.86[EUR][1000 genomes]
rs17500631	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17591401	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17591964	0.87[EUR][1000 genomes]
rs34862725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34899345	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61856593	0.87[EUR][1000 genomes]
rs6479768	0.86[EUR][1000 genomes]
rs72787059	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035197	chr10:52446582-52622349	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52580400-52643200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr10:52585200-52617200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr10:52594800-52617200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr10:52598200-52622400	Weak transcription	Fetal Intestine Small	intestine
5	chr10:52602800-52619200	Weak transcription	Fetal Intestine Large	intestine
6	chr10:52605600-52612000	Weak transcription	Pancreas	Pancrea
7	chr10:52606600-52610600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr10:52606800-52610200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr10:52607000-52610400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr10:52607000-52610400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr10:52607400-52610000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr10:52608400-52612000	Strong transcription	Liver	Liver
13	chr10:52608600-52610200	Weak transcription	HMEC	breast
14	chr10:52608800-52612000	Weak transcription	HepG2	liver
15	chr10:52609000-52614200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr10:52609400-52610600	Enhancers	HUVEC	blood vessel
17	chr10:52609600-52610000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:52609600-52610600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr10:52609600-52611000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:52609600-52611000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr10:52609600-52611000	Enhancers	NHEK	skin
22	chr10:52609600-52611200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr10:52609800-52611200	Enhancers	NHDF-Ad	bronchial
24	chr10:52609800-52611800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr10:52609800-52611800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr10:52609800-52611800	Enhancers	A549	lung

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