Variant report

Variant	rs4667205
Chromosome Location	chr2:188860470-188860471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10497690	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10804017	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11887607	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12469423	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13011622	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13017400	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17262129	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2350195	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4667204	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533353	chr2:188498301-189024655	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875597	chr2:188573244-188916290	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1011832	chr2:188631943-188896492	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv536087	chr2:188631943-188896492	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv584041	chr2:188644642-188928433	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv523293	chr2:188774681-188928433	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv470503	chr2:188837548-188896397	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv584043	chr2:188837548-188896397	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv875600	chr2:188857787-188893936	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4667205	ASNSD1	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188850400-188860600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr2:188853200-188860800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:188853600-188861400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:188854800-188861200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:188856000-188861200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:188856400-188861200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:188857600-188861400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr2:188857800-188861000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:188858200-188860800	Enhancers	Fetal Heart	heart
10	chr2:188858200-188861400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:188858400-188860600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:188858800-188861000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr2:188858800-188864600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:188859000-188861200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:188859400-188860600	Enhancers	Brain Germinal Matrix	brain
16	chr2:188860000-188861000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:188860200-188865200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:188860400-188860600	Enhancers	Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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