Variant report

Variant	rs34920030
Chromosome Location	chr2:231456575-231456576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:231452384..231454652-chr2:231455959..231457603,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10167031	0.88[EUR][1000 genomes]
rs10186690	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10210144	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10498252	0.84[EUR][1000 genomes]
rs10933342	0.84[EUR][1000 genomes]
rs10933343	0.84[EUR][1000 genomes]
rs10933346	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10933347	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11902565	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12694873	0.84[EUR][1000 genomes]
rs13004600	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13004787	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13005078	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13005545	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13005614	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13031749	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13035149	0.85[EUR][1000 genomes]
rs13035936	0.85[EUR][1000 genomes]
rs13391467	0.85[ASN][1000 genomes]
rs13394762	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13418228	0.84[EUR][1000 genomes]
rs13421886	0.84[EUR][1000 genomes]
rs13421941	0.84[EUR][1000 genomes]
rs13431400	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2241535	0.84[EUR][1000 genomes]
rs28376656	0.83[EUR][1000 genomes]
rs34252874	0.83[ASN][1000 genomes]
rs34319068	0.88[EUR][1000 genomes]
rs34748336	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35031342	0.85[EUR][1000 genomes]
rs36110793	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59723009	0.80[ASN][1000 genomes]
rs6436950	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6706134	0.83[ASN][1000 genomes]
rs6734189	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6735285	0.85[ASN][1000 genomes]
rs6742549	0.84[ASN][1000 genomes]
rs6747374	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6755247	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6760905	0.85[EUR][1000 genomes]
rs73106842	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73992464	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7561667	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7572719	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7592551	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231448400-231456600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:231453600-231458000	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr2:231453600-231461400	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:231454000-231457200	Enhancers	Primary B cells from cord blood	blood
5	chr2:231454400-231456600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:231454400-231459600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr2:231454600-231456600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:231454600-231456800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:231455000-231456600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:231455800-231456600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:231456000-231457000	Enhancers	Spleen	Spleen
12	chr2:231456000-231457000	Flanking Active TSS	GM12878-XiMat	blood
13	chr2:231456000-231458400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr2:231456000-231459400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr2:231456000-231459600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:231456400-231457000	Enhancers	Thymus	Thymus
17	chr2:231456400-231457800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr2:231456400-231457800	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr2:231456400-231459000	Enhancers	Fetal Thymus	thymus
20	chr2:231456400-231459400	Enhancers	Primary T cells from cord blood	blood
21	chr2:231456400-231459400	Enhancers	Dnd41	blood

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