Variant report

Variant	rs2249335
Chromosome Location	chr12:74877004-74877005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1037887	0.83[AFR][1000 genomes]
rs1389489	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs1389490	0.83[AFR][1000 genomes]
rs1389491	0.83[AFR][1000 genomes]
rs1493798	0.83[AFR][1000 genomes]
rs1493804	0.83[AFR][1000 genomes]
rs1493807	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs1563930	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs1870699	0.83[AFR][1000 genomes]
rs1873987	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs1873988	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs2007674	0.83[AFR][1000 genomes]
rs2029717	0.83[AFR][1000 genomes]
rs2219608	0.83[AFR][1000 genomes]
rs2252250	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs2605360	0.83[AFR][1000 genomes]
rs2605379	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs2605380	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs2613880	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs2613892	0.83[AFR][1000 genomes]
rs2613896	0.83[AFR][1000 genomes]
rs2613899	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs2641465	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs2925223	0.83[AFR][1000 genomes]
rs2925224	0.83[AFR][1000 genomes]
rs2926807	0.83[AFR][1000 genomes]
rs588875	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs590166	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs596999	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs625531	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs663854	0.83[AFR][1000 genomes]
rs694314	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs822806	1.00[YRI][hapmap]
rs822809	1.00[YRI][hapmap]
rs922222	1.00[AFR][1000 genomes]
rs970236	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1052996	chr12:74710909-74891621	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv541540	chr12:74710909-74891621	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv559413	chr12:74754590-74924819	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv899292	chr12:74835107-74934162	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv899293	chr12:74835107-74995760	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv899294	chr12:74843754-74906884	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv559414	chr12:74850206-74931349	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
9	nsv469474	chr12:74850683-74888100	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	nsv559415	chr12:74850683-74888100	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
11	nsv899295	chr12:74854750-74984992	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv469475	chr12:74857957-74922723	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
13	nsv469476	chr12:74857957-74922723	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
14	nsv559416	chr12:74857957-74922723	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
15	nsv559417	chr12:74857957-74931349	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74871400-74880000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:74876200-74877800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:74876400-74877200	Enhancers	Liver	Liver
4	chr12:74877000-74877400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:74877000-74877400	Active TSS	Duodenum Mucosa	Duodenum

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