Variant report

Variant	rs11831030
Chromosome Location	chr12:104669799-104669800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104669706..104671743-chr12:104681393..104683576,2	K562	blood:
2	chr12:104668426..104670566-chr12:104680778..104683191,4	MCF-7	breast:
3	chr12:104668134..104671112-chr12:104674176..104678107,3	MCF-7	breast:
4	chr12:104668998..104671524-chr12:104672652..104674551,2	K562	blood:

Variant related genes	Relation type
ENSG00000257732	Chromatin interaction
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12426862	1.00[YRI][hapmap]
rs12822864	1.00[AMR][1000 genomes]
rs7303197	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104652800-104673000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr12:104658200-104670000	Weak transcription	NHLF	lung
3	chr12:104658200-104670200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:104658200-104670200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:104658200-104672800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:104663600-104670000	Weak transcription	Brain Substantia Nigra	brain
7	chr12:104664600-104673200	Weak transcription	HSMM	muscle
8	chr12:104667200-104670000	Weak transcription	K562	blood
9	chr12:104667600-104679600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:104668600-104669800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:104668600-104669800	Enhancers	NHEK	skin
12	chr12:104668600-104670000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:104668600-104670000	Enhancers	HMEC	breast
14	chr12:104668600-104670600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:104669400-104669800	Enhancers	HepG2	liver
16	chr12:104669400-104670000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:104669400-104670000	Enhancers	Primary B cells from peripheral blood	blood
18	chr12:104669400-104670800	Flanking Active TSS	A549	lung
19	chr12:104669600-104669800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:104669600-104669800	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr12:104669600-104669800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr12:104669600-104669800	Enhancers	Stomach Mucosa	stomach
23	chr12:104669600-104669800	Enhancers	Hela-S3	cervix
24	chr12:104669600-104670000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:104669600-104670000	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr12:104669600-104670600	Flanking Active TSS	GM12878-XiMat	blood
27	chr12:104669600-104671800	Enhancers	NH-A	brain

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