Variant report

Variant	rs3181327
Chromosome Location	chr11:104872103-104872104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:104871581-104872704	Hela-S3	cervix:	n/a	n/a
2	RCOR1	chr11:104872097-104872516	Hela-S3	cervix:	n/a	n/a
3	TCF7L2	chr11:104871709-104872328	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
CASP5	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11574693	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606407	1.00[CHB][hapmap]
rs12417050	1.00[CHB][hapmap]
rs12417470	1.00[CHB][hapmap]
rs12420557	1.00[CHB][hapmap]
rs12420601	1.00[CHB][hapmap]
rs12797298	1.00[CHB][hapmap]
rs12800151	1.00[CHB][hapmap]
rs12801987	1.00[CHB][hapmap]
rs1503391	1.00[CHB][hapmap]
rs1699089	1.00[CHB][hapmap]
rs17103597	1.00[CHB][hapmap]
rs17103670	1.00[CHB][hapmap]
rs17376473	1.00[CHB][hapmap]
rs17446518	1.00[CHB][hapmap]
rs2047841	1.00[CHB][hapmap]
rs2155817	1.00[CHB][hapmap]
rs3181184	1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3181328	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3181330	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3181334	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.83[TSI][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3181338	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34071659	1.00[ASN][1000 genomes]
rs45613137	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs475266	1.00[CHB][hapmap]
rs4755080	1.00[CHB][hapmap]
rs481736	1.00[CHB][hapmap]
rs481926	1.00[CHB][hapmap]
rs483345	1.00[CHB][hapmap]
rs484626	1.00[CHB][hapmap]
rs488992	1.00[CHB][hapmap]
rs489715	1.00[CHB][hapmap]
rs490565	1.00[CHB][hapmap]
rs492366	1.00[CHB][hapmap]
rs501626	1.00[CHB][hapmap]
rs504054	1.00[CHB][hapmap]
rs505901	1.00[CHB][hapmap]
rs507438	1.00[CHB][hapmap]
rs507509	1.00[CHB][hapmap]
rs516286	1.00[CHB][hapmap]
rs518878	1.00[CHB][hapmap]
rs526167	1.00[CHB][hapmap]
rs528076	1.00[CHB][hapmap]
rs530009	1.00[CHB][hapmap]
rs534811	1.00[CHB][hapmap]
rs538943	1.00[CHB][hapmap]
rs539595	1.00[CHB][hapmap]
rs542571	1.00[CHB][hapmap]
rs546449	1.00[CHB][hapmap]
rs554344	1.00[CHB][hapmap]
rs556205	1.00[CHB][hapmap]
rs557905	1.00[CHB][hapmap]
rs56026330	1.00[ASN][1000 genomes]
rs568910	1.00[CHB][hapmap]
rs571593	1.00[CHB][hapmap]
rs572031	1.00[CHB][hapmap]
rs572687	1.00[CHB][hapmap]
rs580253	1.00[CHB][hapmap]
rs692897	1.00[CHB][hapmap]
rs692914	1.00[CHB][hapmap]
rs7123277	1.00[CHB][hapmap]
rs7928549	1.00[CHB][hapmap]
rs7949293	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv898355	chr11:104730322-104897843	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv468862	chr11:104774014-105243371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv556218	chr11:104774014-105243371	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv3385159	chr11:104786549-105051555	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv1041081	chr11:104797775-104912458	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv1044970	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv541160	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104864000-104877800	Weak transcription	Fetal Intestine Small	intestine
2	chr11:104865600-104872800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:104870400-104874400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr11:104871000-104874800	Weak transcription	Liver	Liver
5	chr11:104871200-104872800	Enhancers	Placenta	Placenta
6	chr11:104871800-104874000	Weak transcription	HepG2	liver
7	chr11:104872000-104872400	Active TSS	Hela-S3	cervix

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