Variant report

Variant	rs1933598
Chromosome Location	chr1:209330820-209330821
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:209330820-209331663	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr1:209330810-209331626	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ENSG00000232537	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10863758	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10863761	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11119231	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11119232	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11119233	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11581106	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12077139	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1933606	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1933614	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4379675	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4382726	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4391667	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4546924	0.84[EUR][1000 genomes]
rs4844776	0.92[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4844779	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4844780	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4844781	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6540522	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6676230	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687541	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6703480	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873137	chr1:209301571-209338673	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv522816	chr1:209325038-209342622	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region lncRNA	2 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	chr1:209327800-209332000	Enhancers	H1 Cell Line	embryonic stem cell
2	chr1:209328200-209331600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr1:209328200-209334000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:209328400-209331000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:209328400-209331200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr1:209328400-209332400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:209328400-209334000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:209329200-209333200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:209329600-209335800	Weak transcription	HSMM	muscle
10	chr1:209329800-209331000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:209329800-209331600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:209329800-209332400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:209330000-209333200	Weak transcription	HSMMtube	muscle
14	chr1:209330200-209331200	Weak transcription	Fetal Brain Male	brain
15	chr1:209330200-209333000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:209330600-209331000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:209330800-209331800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:209330800-209332000	Enhancers	Fetal Muscle Leg	muscle
19	chr1:209330800-209332400	Enhancers	Fetal Brain Female	brain

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