Variant report

Variant	rs10516038
Chromosome Location	chr5:167189612-167189613
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	chr5:167185874..167188275-chr5:167189453..167191702,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10045595	0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs10070839	0.85[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs10454960	0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs11134472	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs11738000	0.82[ASW][hapmap];0.92[CEU][hapmap];0.80[MEX][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11750131	1.00[CEU][hapmap];0.90[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12651802	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12657288	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13166995	0.86[EUR][1000 genomes]
rs13174776	0.81[AFR][1000 genomes]
rs13436455	0.96[CEU][hapmap];0.80[CHB][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1364368	0.88[CEU][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes]
rs1364369	0.85[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs1834118	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2018599	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2336972	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2337000	0.97[TSI][hapmap];0.95[EUR][1000 genomes]
rs2911499	0.88[CEU][hapmap];0.80[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2973664	0.95[CEU][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2973667	0.88[EUR][1000 genomes]
rs35366185	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4270713	0.88[EUR][1000 genomes]
rs4479863	0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs4583906	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4624810	0.95[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61165988	0.85[EUR][1000 genomes]
rs6861976	0.90[EUR][1000 genomes]
rs6862936	0.82[CEU][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs6863601	0.88[CEU][hapmap];0.80[MEX][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes]
rs6879227	1.00[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6880746	0.84[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs6891311	0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs6898256	0.86[EUR][1000 genomes]
rs7703401	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167182200-167191800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:167182400-167190200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:167183400-167197200	Weak transcription	HSMMtube	muscle
4	chr5:167183600-167190600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:167184000-167191800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:167185000-167192800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:167185200-167193000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:167186600-167190600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:167186800-167190400	Weak transcription	Osteobl	bone
10	chr5:167186800-167190600	Weak transcription	NHDF-Ad	bronchial
11	chr5:167186800-167191200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr5:167186800-167197200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:167187000-167190400	Weak transcription	NH-A	brain
14	chr5:167187600-167190200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:167188000-167190000	Weak transcription	HMEC	breast
16	chr5:167188000-167191600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:167188200-167190000	Weak transcription	NHEK	skin
18	chr5:167189000-167190400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr5:167189000-167191400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:167189600-167190000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:167189600-167192800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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