Variant report

Variant	rs2252811
Chromosome Location	chr10:50192120-50192121
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:50191915-50192673	GM12892	blood:	n/a	n/a
2	POLR2A	chr10:50191829-50193658	GM12892	blood:	n/a	n/a
3	POLR2A	chr10:50191585-50194118	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:50191817-50192363	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50189578..50192203-chr10:50707466..50710047,2	K562	blood:
2	chr10:50183047..50186583-chr10:50187607..50192448,6	K562	blood:

Variant related genes	Relation type
ENSG00000226576	TF binding region
ENSG00000128815	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10735228	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10745290	0.82[CEU][hapmap];0.94[CHB][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10776660	0.81[CEU][hapmap];0.94[JPT][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs10857430	0.82[CEU][hapmap];0.90[CHB][hapmap];0.81[EUR][1000 genomes]
rs11101573	0.95[CHB][hapmap];0.86[CHD][hapmap]
rs12413832	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs1877799	0.82[CEU][hapmap];0.80[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1877800	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1913516	0.84[CEU][hapmap];0.90[CHB][hapmap];0.81[EUR][1000 genomes]
rs1913528	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2090126	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2090127	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2137909	0.81[CEU][hapmap];0.95[CHB][hapmap]
rs2245379	0.80[ASN][1000 genomes]
rs2245392	0.85[ASN][1000 genomes]
rs2249429	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2249657	0.86[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2249659	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2249662	0.92[CEU][hapmap];0.90[CHB][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2264553	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2264843	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2271565	0.82[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap]
rs2292584	0.82[CEU][hapmap]
rs2292585	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2457466	0.84[TSI][hapmap]
rs2458671	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2663028	0.81[CEU][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs2663067	0.94[JPT][hapmap];0.82[TSI][hapmap]
rs2663068	0.94[JPT][hapmap]
rs2889709	0.88[JPT][hapmap];0.80[EUR][1000 genomes]
rs4614357	0.81[CEU][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs4838433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838663	0.95[ASN][1000 genomes]
rs6537586	0.81[CEU][hapmap];0.94[JPT][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs6537587	0.82[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs7072344	0.82[EUR][1000 genomes]
rs7083751	0.81[CEU][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs7086917	0.82[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs7091429	0.81[CEU][hapmap];0.94[JPT][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs7093656	0.82[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.81[TSI][hapmap];0.81[EUR][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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831866	chr10:50165180-50335276	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2252811	WDFY4	cis	parietal	SCAN
rs2252811	CSTF2T	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50144600-50196200	Strong transcription	Primary B cells from cord blood	blood
2	chr10:50145000-50193200	Strong transcription	Primary B cells from peripheral blood	blood
3	chr10:50145400-50193200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr10:50145800-50193400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr10:50148000-50193600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr10:50153600-50193600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr10:50179200-50192200	Weak transcription	Primary T cells from cord blood	blood
8	chr10:50185400-50192400	Strong transcription	Primary hematopoietic stem cells	blood
9	chr10:50187800-50192200	Weak transcription	GM12878-XiMat	blood
10	chr10:50189200-50193800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr10:50189600-50193200	Weak transcription	Esophagus	oesophagus
12	chr10:50189800-50192600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr10:50189800-50195200	Weak transcription	Fetal Lung	lung
14	chr10:50189800-50201200	Weak transcription	Right Atrium	heart
15	chr10:50190000-50193600	Strong transcription	Spleen	Spleen
16	chr10:50190400-50204600	Weak transcription	Fetal Muscle Leg	muscle
17	chr10:50191400-50193000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:50191400-50193200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:50191800-50192800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr10:50192000-50192200	Enhancers	Fetal Brain Female	brain
21	chr10:50192000-50192400	Enhancers	Fetal Kidney	kidney
22	chr10:50192000-50192600	Enhancers	Ovary	ovary

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