Variant report

Variant	rs10507553
Chromosome Location	chr13:47789100-47789101
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10507552	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11841008	1.00[ASN][1000 genomes]
rs11842471	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1360641	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1360642	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41464146	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4941584	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4941586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7335241	0.99[ASN][1000 genomes]
rs9567790	1.00[EUR][1000 genomes]
rs9567792	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763019	chr13:47348229-48123447	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3394678	chr13:47678184-48039379	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832599	chr13:47703075-47873855	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:47784800-47790200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:47785800-47790000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:47786000-47789400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr13:47786000-47789600	Weak transcription	NH-A	brain
5	chr13:47786000-47789600	Weak transcription	NHEK	skin
6	chr13:47786600-47789600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr13:47786600-47790000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr13:47786800-47790000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr13:47787200-47789600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:47787600-47790000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr13:47787800-47790000	Weak transcription	HSMMtube	muscle
12	chr13:47788000-47790000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr13:47788200-47790000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:47788600-47790600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:47788800-47791400	Enhancers	HMEC	breast
16	chr13:47788800-47791800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:47789000-47789200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr13:47789000-47789400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:47789000-47789600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr13:47789000-47790800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr13:47789000-47791600	Enhancers	NHDF-Ad	bronchial

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