Variant report

Variant	rs4529994
Chromosome Location	chr13:94212587-94212588
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1445252	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3848061	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9524131	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869070	chr13:93347616-94286933	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1053035	chr13:93842576-94229732	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541880	chr13:93842576-94229732	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv530636	chr13:93997311-94281707	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv562749	chr13:94083352-94263206	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv948714	chr13:94100104-94699435	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv900922	chr13:94105666-94281492	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	esv2758340	chr13:94174654-94348179	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	esv2759958	chr13:94174654-94348179	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv933807	chr13:94187158-94845505	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv832683	chr13:94207802-94370926	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv1053695	chr13:94209916-94243088	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv562751	chr13:94210858-94294144	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94200800-94213800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:94202000-94212600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:94202000-94214000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:94205400-94212600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:94208000-94213000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr13:94208200-94213400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:94208400-94212600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr13:94211600-94213400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:94211600-94213400	Enhancers	NHEK	skin
10	chr13:94211600-94214400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr13:94211800-94212600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr13:94211800-94213600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr13:94212000-94212800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:94212000-94213000	Enhancers	HSMM	muscle
15	chr13:94212000-94213200	Enhancers	HMEC	breast
16	chr13:94212000-94213200	Enhancers	NH-A	brain
17	chr13:94212000-94215800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr13:94212200-94212600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr13:94212200-94212600	Enhancers	HSMMtube	muscle
20	chr13:94212200-94212800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr13:94212200-94212800	Enhancers	Ovary	ovary
22	chr13:94212200-94213000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr13:94212200-94213800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr13:94212200-94213800	Weak transcription	A549	lung
25	chr13:94212200-94216000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr13:94212400-94212800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr13:94212400-94213200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr13:94212400-94214000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links