Variant report

Variant	rs10167031
Chromosome Location	chr2:231446771-231446772
allele	C/T
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	chr2:231446677-231446879	GM12891	blood:	n/a	n/a
2	POLR2A	chr2:231446671-231447040	GM12891	blood:	n/a	n/a
3	POLR2A	chr2:231446572-231447057	GM12891	blood:	n/a	n/a
4	POLR2A	chr2:231446659-231447070	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:231446622-231446968	GM12878	blood:	n/a	n/a
6	POLR2A	chr2:231446573-231446987	GM12878	blood:	n/a	n/a
7	POLR2A	chr2:231446572-231447052	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000235419	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10186690	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10210144	0.92[EUR][1000 genomes]
rs10498252	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10933342	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10933343	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10933346	0.88[EUR][1000 genomes]
rs10933347	0.88[EUR][1000 genomes]
rs11902565	0.82[EUR][1000 genomes]
rs12694873	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13004600	0.89[EUR][1000 genomes]
rs13004787	0.89[EUR][1000 genomes]
rs13005078	0.89[EUR][1000 genomes]
rs13005545	0.89[EUR][1000 genomes]
rs13005614	0.89[EUR][1000 genomes]
rs13031749	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13035149	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13035936	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13394762	0.85[EUR][1000 genomes]
rs13418228	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13421886	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13421941	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13431400	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2241535	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28376656	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34319068	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34748336	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34920030	0.88[EUR][1000 genomes]
rs35031342	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36110793	0.88[EUR][1000 genomes]
rs6436950	0.90[EUR][1000 genomes]
rs6734189	0.90[EUR][1000 genomes]
rs6747374	0.90[EUR][1000 genomes]
rs6755247	0.86[EUR][1000 genomes]
rs6760905	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73106842	0.87[EUR][1000 genomes]
rs73992464	0.87[EUR][1000 genomes]
rs7561667	0.92[EUR][1000 genomes]
rs7572719	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv875953	chr2:231415189-231457819	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv875955	chr2:231440555-231500805	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv961010	chr2:231446732-231451285	Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231441000-231447200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:231443400-231451000	Weak transcription	Primary T cells from cord blood	blood
3	chr2:231443400-231453800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr2:231443400-231454400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:231443400-231454600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:231443800-231447600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr2:231444000-231447400	Weak transcription	Primary B cells from cord blood	blood
8	chr2:231444000-231447600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:231445600-231446800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr2:231446600-231447200	Enhancers	GM12878-XiMat	blood

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