Variant report

Variant	rs12464277
Chromosome Location	chr2:20611042-20611043
allele	C/G/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	chr2:20541478..20544272-chr2:20609802..20611413,2	K562	blood:
2	chr2:20610936..20611802-chr2:20834956..20835489,2	MCF-7	breast:
3	chr2:20610895..20611791-chr2:20841871..20842811,4	K562	blood:
4	chr2:20610929..20611800-chr2:20841880..20842825,3	MCF-7	breast:
5	chr2:20610139..20612822-chr2:20645076..20648295,4	MCF-7	breast:
6	chr2:20607895..20612833-chr2:20645228..20650823,10	MCF-7	breast:
7	chr2:20610878..20611488-chr2:20835352..20836256,4	K562	blood:
8	chr2:20610949..20611510-chr2:20622381..20623012,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228950	Chromatin interaction
ENSG00000143878	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10209568	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11901184	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12466143	0.88[EUR][1000 genomes]
rs12471220	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12471293	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12477228	0.88[EUR][1000 genomes]
rs1476941	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1985318	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1985319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2348705	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs343138	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs343140	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs343142	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs343144	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs343147	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs343152	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4666306	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666386	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4666387	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4666389	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666390	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6531236	0.87[ASN][1000 genomes]
rs6705947	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734065	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67464308	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs67511352	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7563890	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564799	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564810	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576439	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576806	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603518	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7604195	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs953927	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873716	chr2:20572094-20621404	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv581165	chr2:20581058-20616990	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	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	chr2:20601400-20614800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:20610200-20611200	Enhancers	Fetal Muscle Leg	muscle
3	chr2:20610200-20611600	Enhancers	Right Ventricle	heart
4	chr2:20610400-20611200	Enhancers	Fetal Muscle Trunk	muscle
5	chr2:20610400-20611200	Enhancers	HSMM	muscle
6	chr2:20610400-20611400	Enhancers	HSMMtube	muscle
7	chr2:20610400-20621000	Weak transcription	Left Ventricle	heart
8	chr2:20610600-20611600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:20610800-20611600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:20610800-20611600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:20611000-20611400	Active TSS	Stomach Smooth Muscle	stomach
12	chr2:20611000-20611600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:20611000-20611600	Enhancers	Placenta	Placenta
14	chr2:20611000-20611800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr2:20611000-20612000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr2:20611000-20613000	Enhancers	HepG2	liver
17	chr2:20611000-20614600	Weak transcription	Esophagus	oesophagus

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