Variant report

Variant	rs57134877
Chromosome Location	chr13:47790459-47790460
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11841008	0.88[EUR][1000 genomes]
rs17376673	0.95[EUR][1000 genomes]
rs7335241	0.88[EUR][1000 genomes]
rs7985402	0.95[EUR][1000 genomes]
rs7987233	1.00[EUR][1000 genomes]
rs7987410	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:47788600-47790600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:47788800-47791400	Enhancers	HMEC	breast
3	chr13:47788800-47791800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:47789000-47790800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr13:47789000-47791600	Enhancers	NHDF-Ad	bronchial
6	chr13:47789200-47790600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:47789400-47791200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:47789600-47790600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr13:47789600-47791000	Enhancers	NHEK	skin
10	chr13:47789600-47791200	Enhancers	NH-A	brain
11	chr13:47789600-47791400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr13:47789600-47791600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr13:47789600-47791600	Enhancers	HSMM	muscle
14	chr13:47790000-47790600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr13:47790000-47790800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:47790000-47790800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr13:47790000-47790800	Enhancers	Osteobl	bone
18	chr13:47790000-47791000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr13:47790000-47791400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:47790000-47791400	Enhancers	HSMMtube	muscle
21	chr13:47790000-47791600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:47790200-47790600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:47790200-47790600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr13:47790200-47790800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr13:47790200-47790800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:47790200-47791000	Enhancers	HepG2	liver
27	chr13:47790400-47791200	Enhancers	NHLF	lung

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