Variant report

Variant	rs11617253
Chromosome Location	chr13:53455883-53455884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12100313	0.88[EUR][1000 genomes]
rs12100317	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1274580	0.88[EUR][1000 genomes]
rs1274581	0.88[EUR][1000 genomes]
rs1323118	0.88[EUR][1000 genomes]
rs1359046	0.80[ASN][1000 genomes]
rs2236363	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2764035	0.88[EUR][1000 genomes]
rs3742300	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3742301	0.93[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4143183	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4886021	0.99[ASN][1000 genomes]
rs508523	0.88[EUR][1000 genomes]
rs540528	0.88[EUR][1000 genomes]
rs582583	0.82[ASN][1000 genomes]
rs61950421	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646902	0.88[EUR][1000 genomes]
rs648146	0.87[EUR][1000 genomes]
rs649523	0.88[EUR][1000 genomes]
rs67683610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7337857	0.82[AMR][1000 genomes]
rs9788389	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9788390	0.88[EUR][1000 genomes]
rs9788403	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv3440613	chr13:53307609-53671072	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv455889	chr13:53419139-53466127	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv561661	chr13:53419139-53466127	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv900090	chr13:53429453-53495715	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53453200-53466600	Weak transcription	Fetal Brain Female	brain
2	chr13:53454200-53457400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:53454600-53458000	Weak transcription	Brain Germinal Matrix	brain
4	chr13:53454800-53456400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
5	chr13:53455000-53456400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
6	chr13:53455200-53456200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
7	chr13:53455400-53456200	Enhancers	Aorta	Aorta
8	chr13:53455400-53456200	Enhancers	HMEC	breast
9	chr13:53455400-53456400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
10	chr13:53455400-53457000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr13:53455400-53457800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
12	chr13:53455400-53458200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr13:53455400-53458600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr13:53455600-53456200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr13:53455600-53456400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
16	chr13:53455600-53456800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
17	chr13:53455600-53457000	Weak transcription	Fetal Muscle Leg	muscle
18	chr13:53455600-53457600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
19	chr13:53455600-53458200	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