Variant report

Variant	rs1532427
Chromosome Location	chr4:79543581-79543582
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79542792..79544409-chr4:79720591..79722991,2	K562	blood:
2	chr4:79542556..79545467-chr4:79549942..79551796,4	K562	blood:
3	chr4:79541751..79544197-chr4:79672798..79674957,2	K562	blood:
4	chr4:79539469..79541784-chr4:79542967..79545654,2	K562	blood:
5	chr4:79542135..79543835-chr4:79696939..79698842,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138756	Chromatin interaction
ENSG00000260278	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10008069	0.92[CEU][hapmap];0.80[CHB][hapmap];0.90[JPT][hapmap]
rs10028815	0.96[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10029214	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10857035	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11098274	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11098275	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11098278	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11932080	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12510383	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12510411	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12639656	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12644222	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12711028	0.91[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13110339	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1806906	0.88[CEU][hapmap]
rs28579596	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34636970	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4074675	0.80[AMR][1000 genomes]
rs4254805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4257676	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs4264856	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs4365753	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs4495064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4560439	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs4612	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4619914	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs4645238	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5944	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62308286	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6533827	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6533828	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6815367	0.83[AMR][1000 genomes]
rs6817175	0.95[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6821449	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6822675	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6825328	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6842686	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6842723	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7656801	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7659978	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7672835	0.88[CEU][hapmap]
rs7675464	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7675646	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7677783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[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:41 , 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	chr4:79518600-79543600	Weak transcription	Stomach Mucosa	stomach
3	chr4:79533800-79548800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:79534600-79547800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:79536400-79550600	Weak transcription	Left Ventricle	heart
6	chr4:79537000-79545800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:79539200-79549800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:79539400-79550400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr4:79539600-79550000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:79539800-79545200	Weak transcription	GM12878-XiMat	blood
11	chr4:79542200-79543600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:79542200-79555600	Enhancers	Fetal Intestine Small	intestine
13	chr4:79542600-79544000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:79542600-79544000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:79542600-79544000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:79542600-79544200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:79542600-79544200	Enhancers	NHDF-Ad	bronchial
18	chr4:79542600-79544200	Enhancers	NHLF	lung
19	chr4:79542600-79544400	Enhancers	NH-A	brain
20	chr4:79542600-79555600	Enhancers	Fetal Intestine Large	intestine
21	chr4:79542800-79544000	Enhancers	HSMMtube	muscle
22	chr4:79542800-79546000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:79543000-79544000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr4:79543000-79544000	Enhancers	HepG2	liver
25	chr4:79543000-79544200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:79543000-79544200	Enhancers	Placenta Amnion	Placenta Amnion
27	chr4:79543000-79544200	Enhancers	Hela-S3	cervix
28	chr4:79543000-79544400	Enhancers	Osteobl	bone
29	chr4:79543000-79545600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:79543200-79543600	Weak transcription	Placenta	Placenta
31	chr4:79543200-79543800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:79543200-79544000	Enhancers	Right Atrium	heart
33	chr4:79543200-79544200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:79543200-79544400	Enhancers	HUVEC	blood vessel
35	chr4:79543400-79543600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:79543400-79543800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:79543400-79543800	Enhancers	HSMM	muscle
38	chr4:79543400-79543800	Enhancers	K562	blood
39	chr4:79543400-79544000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr4:79543400-79544000	Enhancers	A549	lung
41	chr4:79543400-79544200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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