Variant report

Variant	rs7961423
Chromosome Location	chr12:104802205-104802206
allele	G/T
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: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10746000	0.95[ASN][1000 genomes]
rs11112036	0.94[ASN][1000 genomes]
rs12368816	0.84[ASN][1000 genomes]
rs12368824	0.87[ASN][1000 genomes]
rs17035534	0.89[ASN][1000 genomes]
rs2222877	0.81[AMR][1000 genomes]
rs2243642	0.91[ASN][1000 genomes]
rs6539146	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6539149	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7313450	0.84[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs7956065	0.94[ASN][1000 genomes]
rs7958283	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7958404	0.94[ASN][1000 genomes]
rs7962470	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7976367	0.90[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:28 , 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	chr12:104801400-104803000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:104801600-104803800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr12:104801800-104802400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:104801800-104802400	Flanking Active TSS	A549	lung
8	chr12:104801800-104802800	Enhancers	Gastric	stomach
9	chr12:104801800-104802800	Enhancers	Ovary	ovary
10	chr12:104801800-104803000	Enhancers	Fetal Thymus	thymus
11	chr12:104801800-104803200	Enhancers	Fetal Intestine Small	intestine
12	chr12:104801800-104803600	Enhancers	Placenta	Placenta
13	chr12:104801800-104803600	Enhancers	K562	blood
14	chr12:104802000-104802800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:104802000-104802800	Enhancers	Adipose Nuclei	Adipose
16	chr12:104802000-104802800	Enhancers	HMEC	breast
17	chr12:104802000-104803000	Enhancers	Liver	Liver
18	chr12:104802000-104803000	Enhancers	Stomach Mucosa	stomach
19	chr12:104802000-104803200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:104802000-104803200	Enhancers	Osteobl	bone
21	chr12:104802000-104803600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:104802000-104803600	Enhancers	Left Ventricle	heart
23	chr12:104802000-104803600	Enhancers	Right Atrium	heart
24	chr12:104802200-104803000	Active TSS	Duodenum Mucosa	Duodenum
25	chr12:104802200-104803000	Flanking Active TSS	Hela-S3	cervix
26	chr12:104802200-104804000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:104802200-104806400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:104802200-104809800	Weak transcription	Thymus	Thymus

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