Variant report

Variant	rs1867329
Chromosome Location	chr2:31428030-31428031
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31418550..31420224-chr2:31425779..31428465,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11124248	0.88[JPT][hapmap]
rs11124255	0.81[JPT][hapmap]
rs11887765	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11887960	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11894727	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11902045	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12104508	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12105033	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12105603	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12105604	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12619774	0.88[JPT][hapmap]
rs12623398	0.88[JPT][hapmap]
rs1373218	0.82[ASN][1000 genomes]
rs1562020	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17010998	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17010999	0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17011001	0.90[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1822498	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2365210	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2365212	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2365213	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2886305	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4952055	0.81[ASN][1000 genomes]
rs4952056	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4952058	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4952061	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4952068	0.88[JPT][hapmap]
rs4952069	0.88[JPT][hapmap]
rs56329486	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6708447	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6711794	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6731524	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6750359	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7563977	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7564077	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7568661	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7576637	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7585737	0.87[JPT][hapmap]
rs7591444	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs7595550	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7595609	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7595622	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7602817	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv873774	chr2:31363732-31432367	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv873775	chr2:31363732-31439443	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv873776	chr2:31384009-31439443	Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv997652	chr2:31385242-31431588	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv535611	chr2:31385242-31431588	ZNF genes & repeats Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv430635	chr2:31420415-31464385	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv1009712	chr2:31424588-31468364	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1000416	chr2:31424588-31470845	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv581268	chr2:31425783-31467079	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv523787	chr2:31426449-31428030	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1001299	chr2:31428030-31464385	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv430646	chr2:31428030-31464385	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1867329	WDR43	cis	parietal	SCAN
rs1867329	EHD3	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31411200-31436800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:31420800-31430800	Weak transcription	Primary B cells from cord blood	blood
3	chr2:31421200-31429600	Weak transcription	Dnd41	blood
4	chr2:31423400-31436800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:31424200-31435800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:31424200-31437600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:31425400-31428400	Strong transcription	Primary B cells from peripheral blood	blood
8	chr2:31426400-31428400	Enhancers	Left Ventricle	heart
9	chr2:31427400-31428200	Enhancers	Brain Angular Gyrus	brain
10	chr2:31427600-31430800	Weak transcription	Fetal Heart	heart
11	chr2:31428000-31428800	Strong transcription	Esophagus	oesophagus
12	chr2:31428000-31429000	Weak transcription	Right Ventricle	heart

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