Variant report

Variant	rs12195987
Chromosome Location	chr6:146046048-146046049
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:146044114..146046476-chr6:146084502..146087117,2	K562	blood:
2	chr6:146043150..146050221-chr6:146053202..146058792,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270638	Chromatin interaction
ENSG00000270828	Chromatin interaction
ENSG00000112425	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10447450	0.91[CEU][hapmap]
rs10457055	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12193627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12198683	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12200607	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12203609	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12205454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12212636	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12214668	0.91[CEU][hapmap]
rs12214705	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13196875	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13200495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13201738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13203662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13210966	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17225973	0.91[CEU][hapmap]
rs28703599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34211445	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34312543	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35587488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35667536	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35807318	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3923580	0.91[CEU][hapmap]
rs6899772	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73579446	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9485004	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs952407	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424432	chr6:146041308-146057603	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146006800-146050000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr6:146026800-146055800	Weak transcription	Left Ventricle	heart
3	chr6:146028600-146049200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:146030200-146054000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:146035800-146055200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr6:146036200-146049800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:146036200-146054800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:146036800-146050000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:146036800-146050000	Weak transcription	Thymus	Thymus
10	chr6:146037000-146052000	Weak transcription	Ovary	ovary
11	chr6:146038400-146052600	Weak transcription	Fetal Heart	heart
12	chr6:146041800-146050000	Weak transcription	Fetal Stomach	stomach
13	chr6:146045000-146055200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr6:146045600-146054800	Weak transcription	Primary T cells from cord blood	blood
15	chr6:146045800-146046200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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