Variant report

Variant	rs3096140
Chromosome Location	chr5:37832833-37832834
allele	C/T
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: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1862574	0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs2910702	0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2910709	0.90[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap]
rs2910800	0.82[ASN][1000 genomes]
rs2972934	0.83[ASN][1000 genomes]
rs2973038	0.96[ASN][1000 genomes]
rs2973043	0.90[CHB][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];0.93[MEX][hapmap];0.82[ASN][1000 genomes]
rs2973060	0.83[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3096140	HEATR7B2	cis	parietal	SCAN

Chromatin state (count:33 , 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	chr5:37831400-37833400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:37831600-37833000	Enhancers	HMEC	breast
7	chr5:37831600-37833400	Enhancers	NHEK	skin
8	chr5:37831600-37833800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:37831800-37833000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:37831800-37833000	Genic enhancers	Stomach Smooth Muscle	stomach
11	chr5:37831800-37833000	Enhancers	HepG2	liver
12	chr5:37831800-37833600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:37831800-37834200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:37832000-37834000	Genic enhancers	NHDF-Ad	bronchial
15	chr5:37832200-37833000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:37832200-37834000	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr5:37832200-37834200	Enhancers	Brain Hippocampus Middle	brain
18	chr5:37832200-37834200	Enhancers	Fetal Stomach	stomach
19	chr5:37832400-37833000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
20	chr5:37832400-37833000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:37832400-37833000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:37832400-37833200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
23	chr5:37832400-37834400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
24	chr5:37832600-37833000	Bivalent Enhancer	Fetal Brain Male	brain
25	chr5:37832600-37834200	Enhancers	Brain Substantia Nigra	brain
26	chr5:37832600-37834400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:37832600-37834600	Weak transcription	Liver	Liver
28	chr5:37832600-37834600	Strong transcription	HSMMtube	muscle
29	chr5:37832800-37833000	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr5:37832800-37833000	Enhancers	Ovary	ovary
31	chr5:37832800-37833400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:37832800-37833600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:37832800-37834200	Genic enhancers	Osteobl	bone

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