Variant report

Variant	rs4241256
Chromosome Location	chr2:73853509-73853510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10192125	0.86[EUR][1000 genomes]
rs10197233	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1091568	0.86[EUR][1000 genomes]
rs11126407	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11126408	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11126409	0.91[EUR][1000 genomes]
rs11126411	0.94[JPT][hapmap]
rs11680056	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11683970	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685372	0.86[EUR][1000 genomes]
rs11689767	0.85[EUR][1000 genomes]
rs12151671	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1246096	0.86[EUR][1000 genomes]
rs1246105	0.86[EUR][1000 genomes]
rs12478871	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs12620569	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12713783	0.86[EUR][1000 genomes]
rs12991161	0.85[JPT][hapmap]
rs13007306	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13007623	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13027816	0.85[JPT][hapmap]
rs17349804	0.89[EUR][1000 genomes]
rs1879662	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1879666	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1881247	0.86[EUR][1000 genomes]
rs1881248	0.86[EUR][1000 genomes]
rs2017116	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2037814	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2280506	1.00[CEU][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2280507	0.90[CEU][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2421581	0.91[CEU][hapmap]
rs2421585	0.93[EUR][1000 genomes]
rs2421586	0.84[JPT][hapmap]
rs2421587	0.91[CEU][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes]
rs2421589	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2421590	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2421591	0.88[AMR][1000 genomes]
rs2421660	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2421661	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2421662	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2421669	0.91[CEU][hapmap]
rs2860579	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28708576	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2947845	0.91[JPT][hapmap]
rs2948441	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2950770	0.84[EUR][1000 genomes]
rs34719281	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3820700	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3980696	0.98[EUR][1000 genomes]
rs4346412	0.87[ASN][1000 genomes]
rs4436991	0.94[EUR][1000 genomes]
rs4443018	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4511748	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs4627598	0.91[JPT][hapmap];0.81[AMR][1000 genomes]
rs4637150	0.85[EUR][1000 genomes]
rs4852305	0.86[EUR][1000 genomes]
rs4852309	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4852310	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4852311	0.90[CEU][hapmap];0.88[JPT][hapmap]
rs4852936	0.91[EUR][1000 genomes]
rs4852937	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4852939	0.93[ASN][1000 genomes]
rs4852940	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4852948	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4852949	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4852951	0.85[JPT][hapmap]
rs4852954	0.85[JPT][hapmap]
rs4852956	0.81[AMR][1000 genomes]
rs4852958	0.81[AMR][1000 genomes]
rs55677218	0.86[EUR][1000 genomes]
rs56054150	0.90[EUR][1000 genomes]
rs56068325	0.89[EUR][1000 genomes]
rs56770679	0.86[EUR][1000 genomes]
rs6546831	0.86[EUR][1000 genomes]
rs6546832	0.85[EUR][1000 genomes]
rs6546834	0.86[EUR][1000 genomes]
rs6546842	0.87[EUR][1000 genomes]
rs6546863	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6546865	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6546870	0.91[CEU][hapmap];0.93[EUR][1000 genomes]
rs66931335	0.86[EUR][1000 genomes]
rs6712242	0.91[EUR][1000 genomes]
rs6718799	0.81[AMR][1000 genomes]
rs6725284	0.93[EUR][1000 genomes]
rs6729347	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6734450	0.86[EUR][1000 genomes]
rs6744273	0.90[CEU][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6746458	0.86[EUR][1000 genomes]
rs6759464	0.86[EUR][1000 genomes]
rs67877078	0.89[EUR][1000 genomes]
rs67898050	0.86[EUR][1000 genomes]
rs68154245	0.86[EUR][1000 genomes]
rs72811939	0.87[EUR][1000 genomes]
rs7570014	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7579068	0.91[CEU][hapmap];0.89[JPT][hapmap];0.91[EUR][1000 genomes]
rs7585668	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7607989	0.90[JPT][hapmap];0.81[AMR][1000 genomes]
rs7608308	0.89[EUR][1000 genomes]
rs7609034	0.93[EUR][1000 genomes]
rs780388	0.86[EUR][1000 genomes]
rs780389	0.86[EUR][1000 genomes]
rs780390	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs802113	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv874267	chr2:73717656-73857002	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1013385	chr2:73822056-74041441	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv874268	chr2:73837751-73907696	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv874269	chr2:73837751-73914019	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv874270	chr2:73837751-73916672	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1015036	chr2:73840055-73891004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1006235	chr2:73840055-73896603	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1006033	chr2:73840055-73900856	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv2760600	chr2:73846605-73911523	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv874271	chr2:73847024-73907696	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv874272	chr2:73847024-73914019	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv874273	chr2:73847024-73916672	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv874274	chr2:73847024-73922475	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv874275	chr2:73847024-73931971	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv874276	chr2:73847024-73964214	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
19	nsv979021	chr2:73847283-73871861	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv1013586	chr2:73848777-73906844	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv1004208	chr2:73849172-73911511	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	esv2497164	chr2:73850717-73912022	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
23	nsv1004886	chr2:73852525-73900856	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	nsv1011488	chr2:73852525-73909818	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
25	nsv1000057	chr2:73852525-73911511	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
26	esv3385057	chr2:73853505-73913858	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr2:73830600-73854800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:73844000-73854800	Weak transcription	Fetal Brain Female	brain
3	chr2:73852400-73854000	Enhancers	Liver	Liver
4	chr2:73852400-73857400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr2:73852600-73853800	Enhancers	Ovary	ovary
6	chr2:73852600-73854000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:73852600-73854200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:73852600-73854400	Enhancers	Primary hematopoietic stem cells	blood
9	chr2:73852600-73855000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:73853000-73854000	Enhancers	GM12878-XiMat	blood
11	chr2:73853200-73853600	Enhancers	HepG2	liver
12	chr2:73853400-73853600	Enhancers	Fetal Intestine Large	intestine

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