Variant report

Variant	rs817134
Chromosome Location	chr1:193239598-193239599
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193233104..193235296-chr1:193237238..193240130,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1221501	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1536100	1.00[ASW][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.93[AFR][1000 genomes]
rs16835204	0.89[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.87[AFR][1000 genomes]
rs2265555	0.93[AFR][1000 genomes]
rs41305084	0.93[AFR][1000 genomes]
rs4657746	0.93[AFR][1000 genomes]
rs506721	0.93[AFR][1000 genomes]
rs551862	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56986460	1.00[AFR][1000 genomes]
rs6682435	1.00[MEX][hapmap]
rs74130932	0.86[AFR][1000 genomes]
rs74130935	0.87[AFR][1000 genomes]
rs74130936	0.91[AFR][1000 genomes]
rs74130937	0.93[AFR][1000 genomes]
rs74130938	1.00[AFR][1000 genomes]
rs74130939	1.00[AFR][1000 genomes]
rs74130940	0.96[AFR][1000 genomes]
rs74130941	0.93[AFR][1000 genomes]
rs74130942	0.93[AFR][1000 genomes]
rs7518409	0.87[AFR][1000 genomes]
rs7522932	0.89[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap]
rs7538408	0.80[AFR][1000 genomes]
rs7551600	0.86[AFR][1000 genomes]
rs7556154	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7556241	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs817135	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1002564	chr1:193208937-193240380	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
2	chr1:193187000-193245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:193217000-193244600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:193217200-193240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:193218600-193258200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:193222400-193253800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:193228400-193243600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:193228400-193244600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:193229000-193254800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:193229600-193240800	Weak transcription	Gastric	stomach
11	chr1:193231600-193251200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:193232000-193249400	Weak transcription	Fetal Heart	heart
13	chr1:193232200-193239600	Weak transcription	NHLF	lung
14	chr1:193232600-193244600	Weak transcription	Primary T cells from cord blood	blood
15	chr1:193234000-193239800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:193235200-193240200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:193235400-193240200	Weak transcription	GM12878-XiMat	blood
18	chr1:193235400-193242200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:193235400-193243000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:193235400-193252000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:193235400-193252200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:193239200-193239800	Genic enhancers	HSMM	muscle
23	chr1:193239400-193239600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr1:193239400-193239600	Enhancers	Esophagus	oesophagus
25	chr1:193239400-193240600	Enhancers	HSMMtube	muscle
26	chr1:193239400-193240600	Enhancers	NH-A	brain

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