Variant report

Variant	rs73411716
Chromosome Location	chr12:122129455-122129456
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122127725..122130645-chr12:122248269..122249908,2	MCF-7	breast:
2	chr12:122124453..122127425-chr12:122127713..122130672,3	K562	blood:
3	chr12:122123715..122126577-chr12:122127730..122130596,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28477684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60282131	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411707	1.00[AMR][1000 genomes]
rs73411715	1.00[AMR][1000 genomes]
rs73411766	1.00[AMR][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	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122121800-122149600	Weak transcription	Right Atrium	heart
2	chr12:122125400-122135200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:122125400-122137600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:122125400-122139200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:122125600-122135200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:122128800-122129600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:122129000-122129600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:122129000-122129600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:122129000-122129600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:122129000-122129600	Enhancers	Fetal Brain Female	brain
11	chr12:122129000-122129600	Enhancers	HSMM	muscle
12	chr12:122129000-122129600	Enhancers	HSMMtube	muscle
13	chr12:122129000-122129800	Enhancers	GM12878-XiMat	blood
14	chr12:122129200-122129600	Enhancers	HepG2	liver
15	chr12:122129200-122130200	Weak transcription	Pancreas	Pancrea
16	chr12:122129400-122129600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:122129400-122129600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:122129400-122129600	Enhancers	Osteobl	bone
19	chr12:122129400-122129800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:122129400-122131000	Weak transcription	Fetal Heart	heart
21	chr12:122129400-122133400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:122129400-122135000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:122129400-122139800	Weak transcription	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links