Variant report

Variant	rs6893216
Chromosome Location	chr5:74442964-74442965
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10942731	0.83[EUR][1000 genomes]
rs1114161	0.87[GIH][hapmap];0.94[TSI][hapmap]
rs12173218	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1477931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17671266	1.00[CEU][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17671496	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs17738746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1833722	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2035191	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2335107	0.80[EUR][1000 genomes]
rs4298240	0.80[EUR][1000 genomes]
rs4703656	1.00[CEU][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4704178	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4704193	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704195	0.96[ASN][1000 genomes]
rs56371963	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59628276	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6870235	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872586	0.87[GIH][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6890143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6890320	1.00[CEU][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6896496	0.88[ASN][1000 genomes]
rs73763033	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73763040	0.88[ASN][1000 genomes]
rs73765675	0.80[EUR][1000 genomes]
rs7448834	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7715608	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018865	chr5:74246293-74494552	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv882189	chr5:74356857-74478078	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1016610	chr5:74403611-74627654	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2758000	chr5:74433760-74611714	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv2759350	chr5:74433760-74611714	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3360153	chr5:74442618-74443122	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6893216	ARSB	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74439600-74449000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:74440400-74448000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:74441600-74443800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:74441800-74443400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr5:74441800-74443800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr5:74441800-74444600	Enhancers	Primary T cells from cord blood	blood
7	chr5:74441800-74444600	Enhancers	Primary hematopoietic stem cells	blood
8	chr5:74442000-74443200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr5:74442000-74443200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr5:74442200-74443000	Enhancers	Thymus	Thymus
11	chr5:74442200-74443200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:74442200-74443200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr5:74442400-74443800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:74442600-74443600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:74442600-74443800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr5:74442600-74443800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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