Variant report

Variant	rs12800182
Chromosome Location	chr11:57110016-57110017
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	RCOR1	chr11:57109734-57110095	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:57109658..57111927-chr11:57120300..57122314,2	K562	blood:
2	chr11:57087945..57090269-chr11:57108134..57111648,3	MCF-7	breast:
3	chr11:57109377..57112591-chr11:57112819..57115430,3	K562	blood:
4	chr11:57107608..57110045-chr11:57388048..57390193,2	K562	blood:

Variant related genes	Relation type
P2RX3	TF binding region
ENSG00000109991	Chromatin interaction
ENSG00000149115	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs1124846	1.00[AFR][1000 genomes]
rs12576471	1.00[AFR][1000 genomes]
rs12785770	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12786396	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12787728	0.87[GIH][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs12788046	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12789789	1.00[AFR][1000 genomes]
rs12797375	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12798121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12799582	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12800196	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12801000	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12802096	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12803405	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12804022	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12806656	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12806978	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12807593	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12808193	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12808495	1.00[AFR][1000 genomes]
rs12808784	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12808788	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17145552	1.00[AFR][1000 genomes]
rs17145556	1.00[AFR][1000 genomes]
rs17151664	1.00[MEX][hapmap];1.00[AFR][1000 genomes]
rs17151671	1.00[AFR][1000 genomes]
rs17151841	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17651297	1.00[AFR][1000 genomes]
rs17651573	1.00[AFR][1000 genomes]
rs1939488	0.87[GIH][hapmap]
rs1941034	1.00[AFR][1000 genomes]
rs1941054	1.00[AFR][1000 genomes]
rs1943485	1.00[AFR][1000 genomes]
rs1943488	1.00[MEX][hapmap]
rs2077188	1.00[AFR][1000 genomes]
rs2156457	1.00[AFR][1000 genomes]
rs2156458	1.00[AFR][1000 genomes]
rs2156460	1.00[MEX][hapmap];1.00[AFR][1000 genomes]
rs2212608	1.00[AFR][1000 genomes]
rs2230648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34014874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34069781	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34076116	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34085089	0.85[AMR][1000 genomes]
rs34177110	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34458685	1.00[AFR][1000 genomes]
rs34498883	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34505638	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34544917	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34555300	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34572680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34704777	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34742309	1.00[AFR][1000 genomes]
rs34754262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34761603	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34769912	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34850337	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34905018	1.00[AFR][1000 genomes]
rs34985061	1.00[AFR][1000 genomes]
rs35272228	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35284031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35366909	1.00[AFR][1000 genomes]
rs35388927	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35407832	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35536636	1.00[AFR][1000 genomes]
rs35566323	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35707583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35721601	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35818468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35845551	1.00[AFR][1000 genomes]
rs35943801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35950335	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35980006	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35991636	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs36090449	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6591419	0.87[GIH][hapmap]
rs71484419	1.00[AFR][1000 genomes]
rs71484422	1.00[AFR][1000 genomes]
rs71484424	1.00[AFR][1000 genomes]
rs71484425	1.00[AFR][1000 genomes]
rs71484428	1.00[AFR][1000 genomes]
rs71484429	1.00[AFR][1000 genomes]
rs71484430	1.00[AFR][1000 genomes]
rs71484431	1.00[AFR][1000 genomes]
rs71484432	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs71484433	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484434	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484435	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484436	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484437	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484440	0.85[AMR][1000 genomes]
rs71484441	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs71484443	0.91[EUR][1000 genomes]
rs71484444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746885	1.00[AFR][1000 genomes]
rs948843	1.00[AFR][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	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv541048	chr11:57076815-57120781	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57104000-57113000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:57104000-57117200	Weak transcription	Right Atrium	heart
3	chr11:57104200-57117000	Weak transcription	Adipose Nuclei	Adipose
4	chr11:57104200-57117000	Weak transcription	Liver	Liver
5	chr11:57104200-57119200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:57104400-57111000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:57106800-57114200	Enhancers	Fetal Brain Male	brain
8	chr11:57107400-57117200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:57107600-57117000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:57107800-57110200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:57107800-57110600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:57108000-57113000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:57108200-57110200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr11:57108200-57110600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:57108400-57110800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:57108400-57113000	Weak transcription	A549	lung
17	chr11:57108600-57111200	Weak transcription	K562	blood
18	chr11:57109400-57112400	Weak transcription	GM12878-XiMat	blood
19	chr11:57109600-57117200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:57109800-57111000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:57110000-57110200	Enhancers	HMEC	breast
22	chr11:57110000-57110400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:57110000-57111800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr11:57110000-57114200	Enhancers	Fetal Brain Female	brain

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