Variant report

Variant	rs2243642
Chromosome Location	chr12:104803110-104803111
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104801904..104804100-chr12:104805332..104807693,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10746000	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11112036	0.94[ASN][1000 genomes]
rs12368816	0.85[ASN][1000 genomes]
rs17035534	0.81[ASN][1000 genomes]
rs6539146	0.84[ASN][1000 genomes]
rs6539149	0.89[ASN][1000 genomes]
rs7313450	0.94[JPT][hapmap]
rs7956065	0.94[ASN][1000 genomes]
rs7958283	0.89[ASN][1000 genomes]
rs7958404	0.94[ASN][1000 genomes]
rs7961423	0.91[ASN][1000 genomes]
rs7962470	0.91[ASN][1000 genomes]
rs7976367	0.89[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	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104800800-104803600	Enhancers	HUVEC	blood vessel
2	chr12:104801200-104803600	Enhancers	Fetal Heart	heart
3	chr12:104801200-104804600	Enhancers	Pancreas	Pancrea
4	chr12:104801600-104803800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr12:104801800-104803200	Enhancers	Fetal Intestine Small	intestine
6	chr12:104801800-104803600	Enhancers	Placenta	Placenta
7	chr12:104801800-104803600	Enhancers	K562	blood
8	chr12:104802000-104803200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:104802000-104803200	Enhancers	Osteobl	bone
10	chr12:104802000-104803600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:104802000-104803600	Enhancers	Left Ventricle	heart
12	chr12:104802000-104803600	Enhancers	Right Atrium	heart
13	chr12:104802200-104804000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:104802200-104806400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:104802200-104809800	Weak transcription	Thymus	Thymus
16	chr12:104802400-104803600	Enhancers	Right Ventricle	heart
17	chr12:104802600-104806600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:104802800-104803200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:104802800-104803200	Weak transcription	Ovary	ovary
20	chr12:104802800-104803200	Flanking Active TSS	A549	lung
21	chr12:104802800-104804200	Weak transcription	HSMM	muscle
22	chr12:104802800-104804600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:104802800-104804800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:104802800-104808200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:104802800-104808200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:104802800-104808200	Weak transcription	HMEC	breast
27	chr12:104803000-104803200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr12:104803000-104803600	Enhancers	Hela-S3	cervix
29	chr12:104803000-104805400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:104803000-104805600	Weak transcription	NH-A	brain
31	chr12:104803000-104805800	Weak transcription	NHEK	skin
32	chr12:104803000-104808200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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