Variant report

Variant	rs12644222
Chromosome Location	chr4:79544527-79544528
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	chr4:79542556..79545467-chr4:79549942..79551796,4	K562	blood:
2	chr4:79539469..79541784-chr4:79542967..79545654,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10028815	0.81[EUR][1000 genomes]
rs10029214	0.84[EUR][1000 genomes]
rs10857035	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11098274	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11098275	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11098278	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11932080	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12510383	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12510411	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12639656	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12711028	0.81[EUR][1000 genomes]
rs13110339	0.85[ASN][1000 genomes]
rs1532427	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28579596	0.81[ASN][1000 genomes]
rs34636970	0.86[EUR][1000 genomes]
rs4254805	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4495064	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4612	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4645238	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5944	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6533827	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6533828	0.85[ASN][1000 genomes]
rs6817175	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6821449	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6822675	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6825328	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6842686	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6842723	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7656801	0.85[ASN][1000 genomes]
rs7659978	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7675464	0.85[ASN][1000 genomes]
rs7675646	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7677783	0.80[EUR][1000 genomes];0.86[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	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79518000-79548000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:79533800-79548800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:79534600-79547800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:79536400-79550600	Weak transcription	Left Ventricle	heart
5	chr4:79537000-79545800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:79539200-79549800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:79539400-79550400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr4:79539600-79550000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:79539800-79545200	Weak transcription	GM12878-XiMat	blood
10	chr4:79542200-79555600	Enhancers	Fetal Intestine Small	intestine
11	chr4:79542600-79555600	Enhancers	Fetal Intestine Large	intestine
12	chr4:79542800-79546000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:79543000-79545600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:79543600-79545400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:79543800-79545200	Weak transcription	Placenta	Placenta
16	chr4:79544000-79544600	Enhancers	K562	blood
17	chr4:79544000-79545200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:79544000-79545200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:79544000-79545400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:79544000-79545400	Weak transcription	A549	lung
21	chr4:79544000-79545400	Weak transcription	HepG2	liver
22	chr4:79544000-79548000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:79544200-79545400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:79544200-79545400	Weak transcription	NHDF-Ad	bronchial
25	chr4:79544200-79547800	Weak transcription	NHLF	lung
26	chr4:79544200-79548000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr4:79544200-79548000	Weak transcription	Hela-S3	cervix
28	chr4:79544200-79548200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr4:79544200-79550600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:79544400-79545200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:79544400-79548000	Weak transcription	Osteobl	bone

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