Variant report

Variant	rs12807351
Chromosome Location	chr11:4960750-4960751
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	11:4957178-4961904..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000132274	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10500624	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11600505	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11600508	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11602621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11602673	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11824573	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11826210	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12786133	0.86[CEU][hapmap]
rs12786996	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12787985	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12788401	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12788743	0.86[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.80[YRI][hapmap]
rs12789377	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12791425	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12794614	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12795973	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12801574	1.00[JPT][hapmap]
rs12804154	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12807322	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12807538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17339295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2442426	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2570576	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2570582	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2570583	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2595992	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2595994	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2595995	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2595996	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2595997	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2596001	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2605298	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2605300	0.87[ASN][1000 genomes]
rs2605301	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2605302	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2605304	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs36049521	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7945456	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054847	chr11:4642875-5200656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	esv2758254	chr11:4907893-5135331	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	esv2759799	chr11:4907893-5135331	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
4	nsv7652	chr11:4946245-4997769	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
5	nsv1052130	chr11:4948148-4974017	Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1049277	chr11:4948160-4974017	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1036758	chr11:4948560-4974017	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv1047179	chr11:4949956-4974017	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv1044434	chr11:4952914-4974017	Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1054610	chr11:4953844-5004203	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
11	nsv526998	chr11:4954607-5074301	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	nsv1045154	chr11:4958462-5032685	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv540937	chr11:4958462-5032685	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv1046693	chr11:4958462-5177455	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
15	nsv540938	chr11:4958462-5177455	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
16	nsv64	chr11:4959236-4985373	Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	nsv896918	chr11:4960032-5001570	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
18	esv1844673	chr11:4960613-4977065	Inactive region	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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