Variant report

Variant	rs12422842
Chromosome Location	chr12:105486796-105486797
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105485255..105487201-chr12:105499969..105501573,2	K562	blood:
2	chr12:105484191..105488176-chr12:105493160..105495554,3	MCF-7	breast:
3	chr12:105486698..105489306-chr12:105500533..105503211,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257999	Chromatin interaction
ENSG00000136051	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12424151	1.00[AFR][1000 genomes]
rs73181810	1.00[AFR][1000 genomes]
rs73181852	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	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	chr12:105483200-105487000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:105484800-105487000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:105485400-105486800	Enhancers	Brain Substantia Nigra	brain
4	chr12:105485400-105486800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr12:105485800-105487000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr12:105485800-105487000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:105486000-105486800	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr12:105486200-105486800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:105486200-105486800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:105486200-105486800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:105486200-105486800	Flanking Active TSS	NHEK	skin
12	chr12:105486400-105486800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:105486400-105486800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr12:105486400-105486800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr12:105486400-105486800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr12:105486400-105486800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr12:105486400-105486800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr12:105486400-105486800	Flanking Active TSS	HMEC	breast
19	chr12:105486400-105487000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:105486600-105486800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr12:105486600-105486800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr12:105486600-105486800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr12:105486600-105486800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:105486600-105486800	Bivalent/Poised TSS	Fetal Brain Male	brain
25	chr12:105486600-105486800	Bivalent/Poised TSS	Fetal Heart	heart
26	chr12:105486600-105487000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr12:105486600-105487000	Enhancers	H9 Cell Line	embryonic stem cell

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