Variant report

Variant	rs6442008
Chromosome Location	chr3:46645753-46645754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 14 )

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

rs_ID	r²[population]
rs11718490	0.92[EUR][1000 genomes]
rs12637699	0.92[EUR][1000 genomes]
rs13098842	0.91[EUR][1000 genomes]
rs3806702	0.85[TSI][hapmap]
rs4682823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6442006	0.91[EUR][1000 genomes]
rs9880442	0.85[ASN][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	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv876738	chr3:46639048-46680063	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs6442008	HYAL3	cis	parietal	SCAN
rs6442008	SLC38A3	cis	cerebellum	SCAN
rs6442008	TDGF1	cis	Nerve Tibial	GTEx
rs6442008	TDGF1	cis	parietal	SCAN
rs6442008	TDGF1	cis	lung	GTEx
rs6442008	MAP4	cis	parietal	SCAN
rs6442008	P4HTM	cis	parietal	SCAN
rs6442008	ABHD5	cis	parietal	SCAN
rs6442008	TDGF1	cis	Muscle Skeletal	GTEx
rs6442008	TDGF1	cis	Esophagus Muscularis	GTEx
rs6442008	TDGF1	cis	Heart Left Ventricle	GTEx
rs6442008	LRRC2	cis	cerebellum	SCAN
rs6442008	TDGF1	cis	Adipose Subcutaneous	GTEx
rs6442008	TDGF1	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46628800-46651000	Weak transcription	Right Atrium	heart
2	chr3:46634800-46650800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:46644600-46646600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr3:46644600-46646800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:46644600-46646800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr3:46644800-46646000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr3:46644800-46646200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr3:46644800-46646400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr3:46644800-46646400	Enhancers	HepG2	liver
10	chr3:46644800-46646600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:46644800-46646600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:46644800-46646600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:46645000-46645800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr3:46645000-46646600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:46645000-46646800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:46645000-46648400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr3:46645200-46650600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:46645400-46646000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr3:46645400-46646200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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