Variant report

Variant	rs6048546
Chromosome Location	chr20:23074201-23074202
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23073015..23074708-chr20:23076169..23077685,2	K562	blood:
2	chr20:23073207..23075435-chr20:23128612..23131372,2	K562	blood:
3	chr20:23072935..23075069-chr20:23079022..23080703,2	K562	blood:
4	chr20:23070657..23074611-chr20:23139526..23144408,4	K562	blood:
5	chr20:23068148..23069652-chr20:23071851..23074336,2	K562	blood:
6	chr20:23073935..23077646-chr20:23127330..23130238,3	K562	blood:
7	chr20:23063544..23069652-chr20:23069895..23074755,10	K562	blood:
8	chr20:23070987..23074715-chr20:23112780..23116931,4	K562	blood:
9	chr20:23071726..23074715-chr20:23114683..23116931,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233746	Chromatin interaction
ENSG00000201527	Chromatin interaction
ENSG00000125810	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1856471	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6048544	1.00[ASW][hapmap];0.81[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6048545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62202612	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs844814	0.83[EUR][1000 genomes]
rs844816	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs844817	0.81[EUR][1000 genomes]
rs844819	0.83[CEU][hapmap]
rs844821	0.80[EUR][1000 genomes]
rs844822	0.80[EUR][1000 genomes]
rs844825	0.80[EUR][1000 genomes]
rs844827	0.80[EUR][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	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6048546	THBD	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23066000-23075800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr20:23069000-23080400	Weak transcription	Fetal Thymus	thymus
3	chr20:23070800-23074400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr20:23071000-23074400	Enhancers	HUVEC	blood vessel
5	chr20:23071400-23074600	Enhancers	Ovary	ovary
6	chr20:23071800-23075000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr20:23072000-23074800	Enhancers	Pancreas	Pancrea
8	chr20:23072000-23075200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr20:23072000-23075600	Enhancers	Psoas Muscle	Psoas
10	chr20:23072200-23074800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr20:23072200-23075000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr20:23072400-23074600	Enhancers	Right Atrium	heart
13	chr20:23072400-23077600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr20:23072800-23075800	Weak transcription	Placenta	Placenta
15	chr20:23072800-23092000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr20:23073000-23074600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr20:23073000-23087000	Weak transcription	Gastric	stomach
18	chr20:23073200-23074400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr20:23073600-23074600	Enhancers	Spleen	Spleen
20	chr20:23073800-23079400	Enhancers	Esophagus	oesophagus
21	chr20:23073800-23085800	Weak transcription	Right Ventricle	heart
22	chr20:23074000-23074400	Weak transcription	Fetal Lung	lung
23	chr20:23074200-23075200	Enhancers	Lung	lung

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