Variant report

Variant	rs10506231
Chromosome Location	chr12:44206027-44206028
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:44199857..44202613-chr12:44203526..44207963,8	K562	blood:
2	chr12:44151664..44154111-chr12:44204894..44207350,2	K562	blood:
3	chr12:44205963..44209055-chr12:44227517..44231995,4	MCF-7	breast:
4	chr12:44152611..44155566-chr12:44205850..44207875,2	K562	blood:
5	chr12:44162830..44166263-chr12:44204627..44207317,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151239	Chromatin interaction
ENSG00000139173	Chromatin interaction
ENSG00000198001	Chromatin interaction
ENSG00000129317	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10785462	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs10880569	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10880570	0.94[CEU][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10880571	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10880573	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182290	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11182293	0.82[CHB][hapmap]
rs11182325	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1358705	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs1406787	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs1609549	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1614042	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs1621279	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1622590	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1675764	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs1675772	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1675781	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1675785	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs1675787	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1675789	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs17121283	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1731423	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs1731427	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1731432	0.90[CHB][hapmap]
rs1731434	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1731454	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs1731456	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs1731457	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs1731458	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs1731459	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1816854	0.94[CEU][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2447113	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs2614394	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs3764004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4354753	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs4363674	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs4609659	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs4768053	0.90[CHB][hapmap]
rs5019975	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs6582484	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7955615	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs7966902	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7968199	0.92[ASN][1000 genomes]
rs7972025	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44201000-44207400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:44201200-44206200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:44201400-44209400	Weak transcription	Fetal Intestine Small	intestine
4	chr12:44202000-44217800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:44205000-44206200	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr12:44205800-44206800	Enhancers	HMEC	breast
7	chr12:44206000-44206600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:44206000-44206600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:44206000-44206600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:44206000-44206600	Flanking Active TSS	NHEK	skin

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