Variant report

Variant	rs11112022
Chromosome Location	chr12:104774883-104774884
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104681179..104682705-chr12:104774317..104776697,2	K562	blood:
2	chr12:104770811..104773489-chr12:104774057..104776555,2	K562	blood:

Variant related genes	Relation type
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10861212	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11112019	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6539141	0.99[ASN][1000 genomes]
rs7297058	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7311795	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7311851	0.90[AFR][1000 genomes];0.96[ASN][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	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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104766000-104778200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:104766400-104775400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:104767200-104775600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:104767200-104776000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:104768800-104775400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:104769200-104775400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:104770800-104775600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:104771000-104775400	Weak transcription	Brain Angular Gyrus	brain
9	chr12:104771000-104775400	Weak transcription	Hela-S3	cervix
10	chr12:104771200-104775200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:104771200-104775400	Weak transcription	Brain Anterior Caudate	brain
12	chr12:104771200-104775600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:104771200-104775600	Weak transcription	NHLF	lung
14	chr12:104771400-104775400	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:104771400-104775400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:104771400-104775400	Weak transcription	Brain Substantia Nigra	brain
17	chr12:104771400-104775600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:104771400-104775600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:104771400-104775600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:104771400-104775600	Weak transcription	HMEC	breast
21	chr12:104771400-104775600	Weak transcription	NHDF-Ad	bronchial
22	chr12:104771400-104775600	Weak transcription	NHEK	skin
23	chr12:104771400-104775800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:104771600-104775200	Weak transcription	A549	lung
25	chr12:104771600-104775400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:104771800-104781000	Weak transcription	Aorta	Aorta
27	chr12:104772200-104775600	Weak transcription	Placenta	Placenta
28	chr12:104774200-104775400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:104774600-104775400	Enhancers	Fetal Brain Male	brain
30	chr12:104774800-104775800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links