Variant report

Variant	rs10492250
Chromosome Location	chr12:47051076-47051077
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46759539..46761934-chr12:47049839..47051650,2	K562	blood:
2	chr12:46751583..46753293-chr12:47049684..47052247,2	K562	blood:
3	chr12:46661281..46663244-chr12:47050206..47052004,2	MCF-7	breast:
4	chr12:46759450..46767729-chr12:47050364..47062392,28	MCF-7	breast:
5	chr12:46824063..46826118-chr12:47049459..47052232,2	K562	blood:
6	chr12:46921968..46923986-chr12:47049512..47051191,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000258096	Chromatin interaction
ENSG00000111371	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11183544	0.97[ASN][1000 genomes]
rs12230643	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73103305	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1844378	chr12:47028797-47072016	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47036800-47051400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47041000-47054200	Weak transcription	Fetal Kidney	kidney
3	chr12:47042200-47051800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:47042200-47054800	Weak transcription	Fetal Intestine Small	intestine
5	chr12:47043400-47053800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:47046400-47069800	Weak transcription	Pancreas	Pancrea
7	chr12:47046800-47051800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:47046800-47057000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:47048000-47051800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:47048200-47051600	Weak transcription	NHEK	skin
11	chr12:47048600-47052600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:47048600-47053000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:47049200-47053600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:47049400-47053400	Weak transcription	Primary B cells from cord blood	blood
15	chr12:47050400-47052600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:47050600-47052800	Weak transcription	Aorta	Aorta
17	chr12:47050800-47051400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:47050800-47051800	Weak transcription	Ovary	ovary
19	chr12:47050800-47052600	Enhancers	Hela-S3	cervix
20	chr12:47050800-47052800	Enhancers	Osteobl	bone
21	chr12:47050800-47053000	Enhancers	Adipose Nuclei	Adipose
22	chr12:47050800-47053000	Weak transcription	HepG2	liver
23	chr12:47050800-47053000	Enhancers	NHDF-Ad	bronchial
24	chr12:47050800-47055000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr12:47050800-47056000	Enhancers	NHLF	lung
26	chr12:47051000-47051600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:47051000-47052000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:47051000-47052800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:47051000-47052800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:47051000-47053000	Weak transcription	Right Atrium	heart
31	chr12:47051000-47055000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:47051000-47056200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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