Variant report

Variant	rs551292
Chromosome Location	chr11:64775660-64775661
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64772580..64786543-chr11:64875055..64887722,37	MCF-7	breast:
2	chr11:64771169..64772693-chr11:64774036..64775807,2	K562	blood:
3	chr11:64765823..64767446-chr11:64774449..64776725,2	K562	blood:
4	chr11:64774285..64777298-chr11:64781302..64784457,4	MCF-7	breast:
5	chr11:64769114..64776603-chr11:64778484..64784252,8	K562	blood:
6	chr11:64772910..64776480-chr11:64779029..64783569,5	MCF-7	breast:
7	chr11:64771120..64776689-chr11:64779326..64784329,8	K562	blood:
8	chr11:64767765..64771018-chr11:64774055..64777389,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255173	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000273003	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10792454	0.97[ASN][1000 genomes]
rs11231912	0.94[ASN][1000 genomes]
rs1152642	0.91[ASN][1000 genomes]
rs1196617	0.99[ASN][1000 genomes]
rs1196618	0.99[ASN][1000 genomes]
rs1196903	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12226283	0.92[ASN][1000 genomes]
rs183578	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs183579	0.92[ASN][1000 genomes]
rs240568	0.88[ASN][1000 genomes]
rs240569	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs240570	0.91[ASN][1000 genomes]
rs2670909	0.92[ASN][1000 genomes]
rs471772	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs484182	0.81[CHB][hapmap]
rs495330	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs528941	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs532508	0.92[ASN][1000 genomes]
rs534236	0.81[CHB][hapmap]
rs57751380	0.89[ASN][1000 genomes]
rs582378	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs582580	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs586616	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs587835	0.90[ASN][1000 genomes]
rs589351	0.92[ASN][1000 genomes]
rs596321	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs600868	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs602404	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs610208	0.95[ASN][1000 genomes]
rs615709	1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs616124	0.94[ASN][1000 genomes]
rs616341	0.92[ASN][1000 genomes]
rs61893590	0.95[ASN][1000 genomes]
rs650506	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs654772	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs659122	0.92[ASN][1000 genomes]
rs6591869	0.81[CHB][hapmap]
rs660165	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs663767	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs664226	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs670524	0.95[ASN][1000 genomes]
rs674981	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs688368	0.97[ASN][1000 genomes]
rs694907	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs551292	AP000436.4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64764800-64781200	Weak transcription	Right Atrium	heart
2	chr11:64765000-64780600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:64767400-64780400	Weak transcription	Pancreas	Pancrea
4	chr11:64771200-64780400	Weak transcription	Fetal Muscle Leg	muscle
5	chr11:64773800-64776000	Enhancers	NHEK	skin
6	chr11:64774000-64775800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:64774000-64775800	Enhancers	NH-A	brain
8	chr11:64774000-64775800	Enhancers	NHDF-Ad	bronchial
9	chr11:64774000-64775800	Enhancers	NHLF	lung
10	chr11:64774000-64776000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:64774400-64776000	Enhancers	HMEC	breast
12	chr11:64774600-64776000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:64774600-64776200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:64774600-64780200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:64774600-64780600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:64774800-64776000	Bivalent Enhancer	HepG2	liver
17	chr11:64774800-64780800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:64775000-64775800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:64775000-64780600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:64775000-64780600	Weak transcription	HSMMtube	muscle
21	chr11:64775200-64776000	Enhancers	Hela-S3	cervix
22	chr11:64775200-64780400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:64775200-64780600	Weak transcription	HUVEC	blood vessel
24	chr11:64775400-64776000	Enhancers	A549	lung
25	chr11:64775400-64780600	Weak transcription	Osteobl	bone
26	chr11:64775600-64780400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:64775600-64780600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:64775600-64780600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:64775600-64780600	Weak transcription	HSMM	muscle
30	chr11:64775600-64780800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:64775600-64781000	Weak transcription	Esophagus	oesophagus

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