Variant report

Variant	rs2973038
Chromosome Location	chr5:37833781-37833782
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37828282..37831109-chr5:37832662..37834431,2	K562	blood:

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

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

rs_ID	r²[population]
rs1862574	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2910702	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2910800	0.80[ASN][1000 genomes]
rs2972934	0.82[ASN][1000 genomes]
rs2973060	0.82[ASN][1000 genomes]
rs3096140	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	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 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	chr5:37816200-37834000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:37818200-37834400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:37822600-37834400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:37829000-37833800	Enhancers	Rectal Smooth Muscle	rectum
5	chr5:37831600-37833800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:37831800-37834200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:37832000-37834000	Genic enhancers	NHDF-Ad	bronchial
8	chr5:37832200-37834000	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr5:37832200-37834200	Enhancers	Brain Hippocampus Middle	brain
10	chr5:37832200-37834200	Enhancers	Fetal Stomach	stomach
11	chr5:37832400-37834400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
12	chr5:37832600-37834200	Enhancers	Brain Substantia Nigra	brain
13	chr5:37832600-37834400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:37832600-37834600	Weak transcription	Liver	Liver
15	chr5:37832600-37834600	Strong transcription	HSMMtube	muscle
16	chr5:37832800-37834200	Genic enhancers	Osteobl	bone
17	chr5:37833000-37833800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
18	chr5:37833000-37834200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:37833000-37834200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:37833000-37834800	Weak transcription	HMEC	breast
21	chr5:37833400-37833800	Bivalent Enhancer	Fetal Kidney	kidney
22	chr5:37833400-37834000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:37833400-37834200	Enhancers	Stomach Smooth Muscle	stomach
24	chr5:37833400-37834400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:37833400-37834600	Bivalent Enhancer	Brain Germinal Matrix	brain
26	chr5:37833400-37836600	Weak transcription	NHEK	skin
27	chr5:37833600-37834000	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr5:37833600-37834000	Bivalent Enhancer	Fetal Brain Female	brain
29	chr5:37833600-37834400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr5:37833600-37835000	Enhancers	Skeletal Muscle Female	skeletal muscle

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