Variant report

Variant	rs16975231
Chromosome Location	chr15:45375486-45375487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45374959..45377033-chr15:45377600..45379802,2	K562	blood:
2	chr15:45375110..45377836-chr15:45380864..45382446,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10851420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11070442	1.00[CEU][hapmap]
rs1108085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16939755	1.00[CEU][hapmap]
rs16977754	1.00[CEU][hapmap]
rs1961660	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs199138	1.00[JPT][hapmap]
rs2001616	0.82[JPT][hapmap]
rs2002813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2271435	1.00[CEU][hapmap]
rs2554451	1.00[JPT][hapmap]
rs269859	0.85[JPT][hapmap]
rs269862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs269863	1.00[JPT][hapmap]
rs269866	0.85[JPT][hapmap]
rs269868	1.00[JPT][hapmap]
rs3743222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.88[ASN][1000 genomes]
rs3784576	1.00[CEU][hapmap]
rs4775744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs56323146	0.84[ASN][1000 genomes]
rs56838826	0.84[ASN][1000 genomes]
rs57781213	0.96[ASN][1000 genomes]
rs58571185	0.96[ASN][1000 genomes]
rs61626661	0.84[ASN][1000 genomes]
rs61730032	0.84[ASN][1000 genomes]
rs6493134	0.96[ASN][1000 genomes]
rs7171366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.88[ASN][1000 genomes]
rs7175848	0.96[ASN][1000 genomes]
rs7179334	0.96[ASN][1000 genomes]
rs7179784	0.92[ASN][1000 genomes]
rs7180106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7183046	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs73406334	0.84[ASN][1000 genomes]
rs73406337	0.84[ASN][1000 genomes]
rs8024922	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8028462	0.92[ASN][1000 genomes]
rs953733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

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	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
4	esv2757599	chr15:45100852-45383620	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv427961	chr15:45338381-45491634	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16975231	SORD	cis	lymphoblastoid	seeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45363800-45398400	Weak transcription	Gastric	stomach
2	chr15:45369600-45376800	Enhancers	K562	blood
3	chr15:45373600-45389400	Weak transcription	Pancreas	Pancrea
4	chr15:45375400-45376000	Enhancers	NHEK	skin
5	chr15:45375400-45376800	Enhancers	HepG2	liver
6	chr15:45375400-45377600	Enhancers	Stomach Mucosa	stomach

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