Variant report

Variant	rs2249657
Chromosome Location	chr10:50194800-50194801
allele	A/G
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	chr10:50194711-50194864	K562	blood:	n/a	n/a
2	POLR2A	chr10:50194399-50195293	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50194012..50196648-chr10:50208584..50210645,2	MCF-7	breast:

Variant related genes	Relation type
MIR4294	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10735228	0.83[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10745290	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10776660	0.82[EUR][1000 genomes]
rs10857430	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10857431	0.87[ASN][1000 genomes]
rs11101573	0.85[ASN][1000 genomes]
rs12413832	0.81[EUR][1000 genomes]
rs1877800	0.83[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1913516	0.81[CEU][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1913526	0.90[ASN][1000 genomes]
rs1913528	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2090126	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2090127	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2137909	0.87[ASN][1000 genomes]
rs2249429	0.86[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2249659	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2249662	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252811	0.86[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2264553	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2264843	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2271565	0.87[ASN][1000 genomes]
rs2292584	0.87[ASN][1000 genomes]
rs2458671	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2663028	0.81[EUR][1000 genomes]
rs2663067	0.81[CEU][hapmap]
rs2671715	0.81[CEU][hapmap]
rs2889709	0.80[EUR][1000 genomes]
rs4614357	0.82[EUR][1000 genomes]
rs4838433	0.95[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6537586	0.82[EUR][1000 genomes]
rs6537587	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7072344	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs7083751	0.82[EUR][1000 genomes]
rs7086917	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7091429	0.82[EUR][1000 genomes]
rs7093656	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7913932	0.90[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	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

No data

Chromatin state (count:12 , 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	chr10:50189800-50195200	Weak transcription	Fetal Lung	lung
3	chr10:50189800-50201200	Weak transcription	Right Atrium	heart
4	chr10:50190400-50204600	Weak transcription	Fetal Muscle Leg	muscle
5	chr10:50192400-50197600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr10:50193200-50194800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr10:50193200-50195000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr10:50193400-50195000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr10:50193600-50195400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr10:50193600-50196200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr10:50193600-50196600	Weak transcription	Spleen	Spleen
12	chr10:50193800-50195600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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