Variant report

Variant	rs61928138
Chromosome Location	chr12:47001388-47001389
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:46996953..46999304-chr12:47001117..47002975,3	K562	blood:
2	chr12:46997151..46999304-chr12:47001117..47002975,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11613990	1.00[AFR][1000 genomes]
rs6582670	1.00[AFR][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	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv1811918	chr12:46965257-47033254	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46980200-47002000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:46980200-47002200	Weak transcription	Thymus	Thymus
3	chr12:46980200-47002800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:46985200-47002200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:46985400-47002200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:46985600-47007000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:46994800-47002200	Weak transcription	NHEK	skin
8	chr12:46995800-47002200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:46995800-47004600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:46996000-47002800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:46997200-47002000	Weak transcription	Primary T cells from cord blood	blood
12	chr12:46997200-47007000	Weak transcription	Primary B cells from cord blood	blood
13	chr12:46997600-47002200	Weak transcription	Fetal Thymus	thymus
14	chr12:46997800-47002200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:46997800-47002200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:46998000-47002000	Weak transcription	Dnd41	blood
17	chr12:46998000-47002400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:46998000-47002800	Weak transcription	Pancreas	Pancrea
19	chr12:46998200-47002000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:46998200-47002800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:46998400-47010000	Weak transcription	Gastric	stomach
22	chr12:46998800-47001800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:47000800-47001400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:47000800-47002200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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