Variant report

Variant	rs72978063
Chromosome Location	chr1:112860474-112860475
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:112858592..112860687-chr1:112863458..112866361,3	K562	blood:
2	chr1:112858592..112861980-chr1:112863458..112866851,3	K562	blood:
3	chr1:112854823..112857842-chr1:112859971..112862806,3	K562	blood:
4	chr1:112847993..112849529-chr1:112859514..112861628,2	K562	blood:
5	chr1:112853836..112856357-chr1:112857519..112861471,3	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17029995	1.00[AMR][1000 genomes]
rs17030000	1.00[AMR][1000 genomes]
rs72976074	1.00[AMR][1000 genomes]
rs72976095	1.00[AMR][1000 genomes]
rs72976102	1.00[AMR][1000 genomes]
rs72978059	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7532503	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv508526	chr1:112839396-112915215	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:112851600-112866000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:112856400-112863200	Enhancers	Adipose Nuclei	Adipose
3	chr1:112858800-112861600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:112858800-112861600	Enhancers	Fetal Muscle Leg	muscle
5	chr1:112858800-112861800	Enhancers	Fetal Stomach	stomach
6	chr1:112859000-112861600	Enhancers	Brain Anterior Caudate	brain
7	chr1:112859200-112861000	Enhancers	HSMMtube	muscle
8	chr1:112859200-112862200	Enhancers	Colon Smooth Muscle	Colon
9	chr1:112859200-112863800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:112859400-112861600	Enhancers	Ovary	ovary
11	chr1:112859600-112860800	Enhancers	Brain Cingulate Gyrus	brain
12	chr1:112859600-112860800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:112859600-112860800	Weak transcription	Lung	lung
14	chr1:112859600-112861400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:112860000-112860800	Weak transcription	Esophagus	oesophagus
16	chr1:112860000-112860800	Weak transcription	Placenta	Placenta
17	chr1:112860000-112862600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:112860000-112862800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:112860000-112867600	Weak transcription	Spleen	Spleen
20	chr1:112860200-112860600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:112860200-112860600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:112860200-112860600	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr1:112860200-112860800	Enhancers	Fetal Kidney	kidney
24	chr1:112860200-112861000	Enhancers	Pancreas	Pancrea
25	chr1:112860200-112861600	Enhancers	Rectal Smooth Muscle	rectum
26	chr1:112860200-112863400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:112860400-112860600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:112860400-112860600	Enhancers	Fetal Lung	lung
29	chr1:112860400-112861000	Enhancers	Aorta	Aorta
30	chr1:112860400-112867800	Weak transcription	Right Atrium	heart

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