Variant report

Variant	rs10755002
Chromosome Location	chr2:190069176-190069177
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	chr2:190062458..190066163-chr2:190067446..190071057,3	K562	blood:
2	chr2:190068274..190071014-chr2:190073430..190076156,3	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10165257	0.92[ASN][1000 genomes]
rs10166385	0.96[ASN][1000 genomes]
rs10167242	0.85[ASN][1000 genomes]
rs10172607	0.93[ASN][1000 genomes]
rs10173224	0.95[ASN][1000 genomes]
rs10184895	0.93[ASN][1000 genomes]
rs10931401	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs10931403	0.93[ASN][1000 genomes]
rs10931405	0.87[ASN][1000 genomes]
rs10931411	0.81[ASN][1000 genomes]
rs11901914	0.93[ASN][1000 genomes]
rs12105389	0.92[YRI][hapmap]
rs12474942	0.93[ASN][1000 genomes]
rs12621657	0.85[ASN][1000 genomes]
rs12999125	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13006065	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs13015183	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13028226	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13031211	0.80[JPT][hapmap];0.96[YRI][hapmap]
rs13031609	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13408928	0.97[ASN][1000 genomes]
rs13411992	0.96[ASN][1000 genomes]
rs13413518	0.97[ASN][1000 genomes]
rs1356161	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1356165	0.96[YRI][hapmap]
rs1356166	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1356167	0.89[YRI][hapmap]
rs1356168	0.89[YRI][hapmap]
rs1399991	0.93[YRI][hapmap]
rs1464135	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs1474000	0.86[ASN][1000 genomes]
rs1515866	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1533618	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1546617	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1913892	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1973666	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1983318	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2351631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2351632	0.93[ASN][1000 genomes]
rs2351633	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2351635	0.84[ASN][1000 genomes]
rs4128538	0.88[CHD][hapmap]
rs4667266	0.83[ASW][hapmap]
rs4667268	0.93[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs4667270	0.97[ASN][1000 genomes]
rs4667271	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4667275	0.84[ASN][1000 genomes]
rs6434334	0.88[ASN][1000 genomes]
rs6434337	0.85[ASN][1000 genomes]
rs6704568	0.85[ASN][1000 genomes]
rs6728877	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6732534	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6761868	0.85[ASN][1000 genomes]
rs7419888	0.96[YRI][hapmap]
rs7574281	0.86[ASN][1000 genomes]
rs7599222	0.96[ASN][1000 genomes]
rs7603704	0.90[ASN][1000 genomes]
rs939158	0.84[ASN][1000 genomes]
rs939160	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10755002	AC013439.4	cis	Muscle Skeletal	GTEx
rs10755002	PLEKHB1	trans	cerebellum	SCAN
rs10755002	PMS1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190056800-190069400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:190064800-190073200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:190065000-190073000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:190068000-190069400	Active TSS	K562	blood
5	chr2:190068200-190069200	Active TSS	A549	lung
6	chr2:190068200-190069200	Active TSS	Hela-S3	cervix
7	chr2:190068200-190069800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:190068200-190070200	Enhancers	NHDF-Ad	bronchial
9	chr2:190068200-190070200	Enhancers	NHLF	lung
10	chr2:190068400-190069200	Active TSS	Placenta	Placenta
11	chr2:190068400-190070400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:190068800-190069200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:190068800-190069200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:190068800-190069200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr2:190068800-190069400	Flanking Active TSS	Osteobl	bone
16	chr2:190068800-190070200	Enhancers	NHEK	skin
17	chr2:190068800-190071200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:190069000-190069200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:190069000-190069200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr2:190069000-190069400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:190069000-190069400	Active TSS	HMEC	breast
22	chr2:190069000-190069600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:190069000-190069600	Enhancers	HUVEC	blood vessel
24	chr2:190069000-190069800	Enhancers	HSMM	muscle
25	chr2:190069000-190069800	Enhancers	NH-A	brain
26	chr2:190069000-190070400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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