Variant report

Variant	rs1480035
Chromosome Location	chr12:26340483-26340484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:26340413..26342311-chr12:26359943..26362244,2	K562	blood:
2	chr12:26340370..26340991-chr12:26427254..26427993,2	MCF-7	breast:
3	chr12:26340066..26341948-chr12:26347429..26349179,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123096	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10842684	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1473431	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1480034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1552041	0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs16930287	0.90[ASN][1000 genomes]
rs16930293	0.86[JPT][hapmap]
rs1871554	0.83[ASN][1000 genomes]
rs1871555	0.90[ASN][1000 genomes]
rs56198343	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56713764	0.81[ASN][1000 genomes]
rs6487539	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487540	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73086956	0.83[ASN][1000 genomes]
rs73086959	0.83[ASN][1000 genomes]
rs7979281	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs875296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9804706	0.82[AMR][1000 genomes];0.92[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	nsv648	chr12:26330291-26375186	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26337800-26341800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:26338000-26341800	Enhancers	HMEC	breast
3	chr12:26338200-26341800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:26338200-26341800	Enhancers	NHEK	skin
5	chr12:26338400-26341800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:26338400-26341800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:26338600-26341000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:26338800-26340800	Weak transcription	NH-A	brain
9	chr12:26338800-26348200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:26339600-26340800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:26339600-26341400	Enhancers	Hela-S3	cervix
12	chr12:26339600-26341800	Enhancers	NHDF-Ad	bronchial
13	chr12:26339800-26340800	Weak transcription	Brain Substantia Nigra	brain
14	chr12:26339800-26341400	Enhancers	HSMM	muscle
15	chr12:26339800-26342000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr12:26340000-26341400	Enhancers	NHLF	lung
17	chr12:26340000-26341800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:26340000-26341800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:26340000-26341800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:26340000-26341800	Enhancers	A549	lung
21	chr12:26340000-26342000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:26340000-26342600	Enhancers	HSMMtube	muscle
23	chr12:26340200-26341000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:26340200-26341000	Weak transcription	Placenta	Placenta
25	chr12:26340200-26341000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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