Variant report

Variant	rs17689806
Chromosome Location	chr14:97537615-97537616
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1016637	1.00[ASN][1000 genomes]
rs10484167	1.00[ASN][1000 genomes]
rs11627513	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894314	1.00[ASW][hapmap]
rs1385551	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1683119	1.00[ASN][1000 genomes]
rs1683147	1.00[ASN][1000 genomes]
rs17191520	1.00[ASN][1000 genomes]
rs17686657	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17761028	1.00[ASN][1000 genomes]
rs1884065	1.00[ASN][1000 genomes]
rs1950268	1.00[ASN][1000 genomes]
rs1950269	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1955579	1.00[ASN][1000 genomes]
rs1955581	1.00[ASN][1000 genomes]
rs2017852	1.00[ASN][1000 genomes]
rs5008068	1.00[ASN][1000 genomes]
rs61981058	1.00[ASN][1000 genomes]
rs710263	1.00[ASN][1000 genomes]
rs7147186	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154859	1.00[ASN][1000 genomes]
rs8013300	1.00[CHB][hapmap]
rs8018103	1.00[ASN][1000 genomes]
rs856245	1.00[ASN][1000 genomes]
rs856248	1.00[ASN][1000 genomes]
rs856268	1.00[ASN][1000 genomes]
rs957995	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv948620	chr14:97334444-98133191	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv832867	chr14:97365919-97541763	Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1048462	chr14:97421360-97804598	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv456414	chr14:97516313-97550836	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv565654	chr14:97516313-97550836	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv817644	chr14:97523745-97537615	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17689806	BTBD7	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97500800-97543600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:97533000-97538000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:97536000-97538000	Enhancers	Brain Germinal Matrix	brain
4	chr14:97536000-97538000	Enhancers	Fetal Brain Male	brain
5	chr14:97536200-97538000	Enhancers	Fetal Brain Female	brain
6	chr14:97537200-97538800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr14:97537400-97537800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:97537600-97538200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr14:97537600-97538200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:97537600-97538400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr14:97537600-97538400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr14:97537600-97538400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr14:97537600-97538600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:97537600-97538800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links