Variant report

Variant	rs10426454
Chromosome Location	chr19:41637219-41637220
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10402037	1.00[CHB][hapmap]
rs10403140	1.00[CHB][hapmap]
rs10403268	1.00[CHB][hapmap]
rs10408019	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.92[LWK][hapmap];0.84[TSI][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10408317	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10409701	1.00[CHB][hapmap]
rs10410347	1.00[CHB][hapmap]
rs10410747	0.91[EUR][1000 genomes]
rs10412491	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10422282	1.00[CHB][hapmap]
rs10422729	1.00[CHB][hapmap]
rs10423743	1.00[CHB][hapmap]
rs11667976	1.00[CHB][hapmap]
rs16974961	1.00[CHB][hapmap]
rs17657660	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs4803431	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256466	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1065684	chr19:41516389-41644542	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3391909	chr19:41632754-41688263	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41627400-41641600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:41634200-41640400	Weak transcription	Esophagus	oesophagus
3	chr19:41634200-41640800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:41634200-41641400	Weak transcription	Right Ventricle	heart
5	chr19:41634200-41641600	Weak transcription	Left Ventricle	heart
6	chr19:41634200-41641600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr19:41634400-41639400	Weak transcription	Lung	lung
8	chr19:41634400-41639400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr19:41634800-41640800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr19:41634800-41641000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr19:41637000-41637400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:41637000-41637400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:41637200-41637400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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