Variant report

Variant	rs3181328
Chromosome Location	chr11:104870945-104870946
allele	A/G
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	CTCF	chr11:104870940-104871090	GM12866	blood:	n/a	n/a
2	ARID3A	chr11:104870648-104871335	HepG2	liver:	n/a	n/a
3	JUND	chr11:104870906-104871165	HepG2	liver:	n/a	n/a
4	JUND	chr11:104870941-104871265	HepG2	liver:	n/a	n/a
5	MAZ	chr11:104870737-104871040	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:104870944-104871074	GM12878	blood:	n/a	n/a
7	EP300	chr11:104870925-104871266	HepG2	liver:	n/a	n/a
8	FOSL2	chr11:104870898-104871268	HepG2	liver:	n/a	n/a
9	CTCF	chr11:104870820-104870970	GM12872	blood:	n/a	n/a
10	CTCF	chr11:104870860-104871010	HCM	heart:	n/a	n/a
11	RAD21	chr11:104870924-104871337	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAFF	chr11:104870928-104871286	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
CASP5	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11574693	1.00[AMR][1000 genomes];1.00[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]
rs1944900	1.00[CHB][hapmap]
rs2047841	1.00[CHB][hapmap]
rs2155817	1.00[CHB][hapmap]
rs3181184	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3181327	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	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3181334	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.89[TSI][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3181338	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34071659	1.00[ASN][1000 genomes]
rs45613137	0.96[AMR][1000 genomes];0.99[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	chr11:104863200-104871600	Weak transcription	Pancreas	Pancrea
2	chr11:104864000-104877800	Weak transcription	Fetal Intestine Small	intestine
3	chr11:104865600-104872800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:104870400-104871000	Enhancers	Liver	Liver
5	chr11:104870400-104871800	Enhancers	HepG2	liver
6	chr11:104870400-104874400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:104870800-104871000	Enhancers	NHDF-Ad	bronchial

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