Variant report

Variant	rs12214462
Chromosome Location	chr6:150858164-150858165
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:150856138..150858164-chr6:151041932..151043730,2	MCF-7	breast:
2	chr6:150856840..150859421-chr6:151018731..151021434,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120278	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10457863	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11155740	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12154162	0.84[AMR][1000 genomes]
rs12190672	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12191156	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12191289	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12191443	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194059	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12194349	0.84[AMR][1000 genomes]
rs12196963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12200272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12200918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12201796	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12207876	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12209840	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12209935	0.84[AMR][1000 genomes]
rs12212755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212786	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12212968	0.84[AMR][1000 genomes]
rs12212969	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12213006	0.84[AMR][1000 genomes]
rs12214377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12214961	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12215115	0.84[AMR][1000 genomes]
rs12216077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12216537	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13191908	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13202911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13210026	0.83[ASN][1000 genomes]
rs13213392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13213909	0.91[ASN][1000 genomes]
rs13216373	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34580132	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34674608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34781801	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34852202	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35060643	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35453290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35597895	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35895305	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35966095	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36003654	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71570225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71570226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv1020067	chr6:150730783-150870708	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv886772	chr6:150743364-151024280	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv464079	chr6:150836676-150873766	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv604850	chr6:150836676-150873766	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150850600-150858200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:150854200-150858200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:150857000-150862400	Weak transcription	Fetal Lung	lung
4	chr6:150857600-150859000	Enhancers	Fetal Muscle Trunk	muscle
5	chr6:150857600-150860200	Weak transcription	Liver	Liver
6	chr6:150857600-150862400	Weak transcription	HepG2	liver
7	chr6:150858000-150858800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr6:150858000-150859200	Enhancers	Brain Substantia Nigra	brain
9	chr6:150858000-150859200	Enhancers	Fetal Muscle Leg	muscle
10	chr6:150858000-150859400	Enhancers	Brain Hippocampus Middle	brain
11	chr6:150858000-150860200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr6:150858000-150864000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:150858000-150864200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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