Variant report

Variant	rs17863618
Chromosome Location	chr2:51746136-51746137
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	2:51745267-51754233..2:52106672-52112664	GM12878	blood:
2	2:51745267-51754233..2:52043624-52043909	K562	blood:
3	2:51664217-51674289..2:51745267-51754233	H1-hESC	embryonic stem cell:	embryo

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10865253	0.94[ASN][1000 genomes]
rs11125355	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11125357	0.94[ASN][1000 genomes]
rs11125359	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11125362	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1112550	0.91[CEU][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11562950	0.83[AFR][1000 genomes]
rs11562961	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11563000	0.99[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11563045	0.84[AFR][1000 genomes]
rs11563147	1.00[YRI][hapmap]
rs11563167	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11563168	0.83[AFR][1000 genomes]
rs11563170	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11563173	0.94[ASN][1000 genomes]
rs11901456	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13010068	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs13027868	0.98[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13031161	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1406427	0.91[CEU][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1406428	0.91[CEU][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1528794	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1534609	0.91[CEU][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1534610	0.91[CEU][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17868162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1919425	0.91[CEU][hapmap];0.84[YRI][hapmap]
rs1919426	0.91[CEU][hapmap];0.84[YRI][hapmap]
rs2049737	0.83[AFR][1000 genomes]
rs28950779	0.83[AFR][1000 genomes]
rs7569458	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7579426	0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7593150	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007188	chr2:51135645-51821787	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535704	chr2:51135645-51821787	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1001552	chr2:51225970-52139741	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv535708	chr2:51225970-52139741	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv821624	chr2:51513925-51844864	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1011021	chr2:51712589-51803683	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv874069	chr2:51723107-52006583	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1011738	chr2:51731251-51976068	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv2755364	chr2:51734676-51792813	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv581881	chr2:51735494-51862691	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv457707	chr2:51743688-51772064	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv581882	chr2:51743688-51772064	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51745000-51746800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr2:51746000-51746200	Enhancers	HUVEC	blood vessel

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