Variant report

Variant	rs6863601
Chromosome Location	chr5:167221388-167221389
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10045595	0.84[CEU][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes]
rs10454960	0.94[ASW][hapmap];0.84[CEU][hapmap];0.94[LWK][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10516038	0.88[CEU][hapmap];0.80[MEX][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes]
rs11134472	0.96[CEU][hapmap];0.83[CHB][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11738000	0.96[CEU][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11750131	0.88[CEU][hapmap];0.81[GIH][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs12651802	0.87[EUR][1000 genomes]
rs12657288	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13166995	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13436455	0.84[CEU][hapmap]
rs1364368	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1834118	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2018599	0.86[EUR][1000 genomes]
rs2337000	0.94[TSI][hapmap];0.83[EUR][1000 genomes]
rs2911499	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2973664	0.91[CEU][hapmap];0.81[GIH][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2973667	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4270713	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4479863	0.87[TSI][hapmap]
rs4624810	0.87[CEU][hapmap]
rs6861976	0.86[EUR][1000 genomes]
rs6862936	0.84[TSI][hapmap]
rs6879227	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs6891311	0.87[TSI][hapmap]
rs6898256	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7703401	0.83[CEU][hapmap]

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	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	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167210800-167225000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:167218000-167229600	Weak transcription	HSMM	muscle
3	chr5:167218200-167221400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:167218200-167225000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:167218800-167221800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:167219000-167223200	Weak transcription	Osteobl	bone
7	chr5:167219600-167225200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:167219600-167225400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:167219800-167221800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr5:167219800-167229600	Weak transcription	NH-A	brain
11	chr5:167220000-167222600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:167220200-167221600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:167220200-167224000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:167220200-167225200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:167220200-167229600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:167220400-167221400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:167220400-167221600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:167220400-167221800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr5:167220400-167229600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:167220600-167222000	Enhancers	Liver	Liver
21	chr5:167220800-167224200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:167221000-167221800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:167221000-167221800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:167221200-167221600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:167221200-167221600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:167221200-167221800	Enhancers	Pancreas	Pancrea

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