Variant report

Variant	rs2433408
Chromosome Location	chr11:86434176-86434177
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	POLR2A	chr11:86434042-86434226	K562	blood:	n/a	n/a
2	SETDB1	chr11:86433628-86434325	U2OS	brain:	n/a	n/a
3	KAP1	chr11:86433765-86434707	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:86386435..86388413-chr11:86431673..86434550,2	MCF-7	breast:
2	chr11:86432743..86434805-chr11:86511813..86513360,2	MCF-7	breast:
3	chr11:86432276..86435143-chr11:86435251..86439061,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255250	TF binding region
ENSG00000255250	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1075702	0.91[CHB][hapmap]
rs11234834	0.81[CHB][hapmap]
rs2433406	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2433407	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2433409	0.88[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2433410	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2433411	0.88[ASN][1000 genomes]
rs2433424	0.83[ASN][1000 genomes]
rs2433425	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2433426	0.86[ASN][1000 genomes]
rs2433427	0.88[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2433428	0.85[ASN][1000 genomes]
rs2433429	0.95[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs2433431	0.90[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs2433432	0.91[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs2433433	0.86[CHB][hapmap]
rs2433434	0.86[CHB][hapmap]
rs2433435	0.91[CHB][hapmap]
rs2433436	0.86[CHB][hapmap]
rs2433438	0.86[CHB][hapmap]
rs2433439	0.86[CHB][hapmap]
rs2512996	0.95[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs2512997	0.95[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs2512998	0.80[ASN][1000 genomes]
rs2512999	0.84[ASN][1000 genomes]
rs2513000	0.82[ASN][1000 genomes]
rs2513001	0.84[ASN][1000 genomes]
rs2513003	0.90[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs2513005	0.82[CHB][hapmap]
rs2513006	0.88[ASN][1000 genomes]
rs2513008	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2513009	0.86[ASN][1000 genomes]
rs2513010	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2513011	0.86[ASN][1000 genomes]
rs2513012	0.86[ASN][1000 genomes]
rs2513018	0.91[CHB][hapmap]
rs3096711	0.85[ASN][1000 genomes]
rs3096714	0.83[ASN][1000 genomes]
rs3096715	0.91[CHB][hapmap]
rs3096716	0.82[CHB][hapmap]
rs4586194	0.84[ASN][1000 genomes]
rs7108176	0.84[ASN][1000 genomes]
rs7108300	0.82[ASN][1000 genomes]
rs7115320	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7124794	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1055071	chr11:86301240-86465465	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1049157	chr11:86409059-86504155	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86407000-86451600	Weak transcription	Left Ventricle	heart
2	chr11:86424200-86449800	Weak transcription	Pancreas	Pancrea
3	chr11:86425000-86434600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:86431800-86438200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:86433000-86437200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:86433000-86437200	Weak transcription	NHLF	lung
7	chr11:86433200-86436400	Weak transcription	Hela-S3	cervix
8	chr11:86433400-86434800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:86433400-86434800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:86433400-86436000	Weak transcription	Psoas Muscle	Psoas
11	chr11:86433400-86436600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:86433400-86437200	Weak transcription	NH-A	brain
13	chr11:86433600-86435200	Weak transcription	HMEC	breast
14	chr11:86433600-86436800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:86433800-86437200	Weak transcription	Osteobl	bone
16	chr11:86433800-86437400	Weak transcription	NHDF-Ad	bronchial
17	chr11:86434000-86434800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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