Variant report

Variant	rs11182280
Chromosome Location	chr12:44209584-44209585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:44207357..44209830-chr12:44214435..44216907,3	K562	blood:
2	chr12:44208466..44210951-chr12:44227987..44230693,3	MCF-7	breast:
3	chr12:44199742..44201462-chr12:44209107..44211356,2	K562	blood:

Variant related genes	Relation type
ENSG00000139173	Chromatin interaction
ENSG00000151239	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10506231	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]
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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182275	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];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[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	0.83[AFR][1000 genomes];0.98[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];0.82[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];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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];0.98[ASN][1000 genomes]
rs7955615	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs7966902	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7968199	0.93[ASN][1000 genomes]
rs7972025	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	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
2	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 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	chr12:44202000-44217800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:44207600-44210200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:44208400-44210000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:44208400-44223600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:44208800-44210000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr12:44209200-44209800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr12:44209200-44209800	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr12:44209400-44209800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr12:44209400-44209800	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr12:44209400-44210200	Enhancers	Fetal Intestine Small	intestine

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