Variant report

Variant	rs2035115
Chromosome Location	chr4:91925480-91925481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10433882	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10433958	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10461125	0.95[CHB][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap]
rs10516886	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097283	0.85[CHB][hapmap];0.82[CHD][hapmap]
rs13136977	0.91[JPT][hapmap];0.80[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs1381300	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1599456	0.89[ASN][1000 genomes]
rs1599457	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17199344	0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs17200531	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17265766	0.90[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs17266413	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2035116	0.90[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap]
rs2054332	0.95[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap]
rs2126217	0.85[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs2169367	0.87[ASN][1000 genomes]
rs28524051	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs28811665	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28815191	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41489045	0.80[CHB][hapmap]
rs56057223	0.83[ASN][1000 genomes]
rs57040256	0.87[ASN][1000 genomes]
rs58981735	0.83[ASN][1000 genomes]
rs59871981	0.87[ASN][1000 genomes]
rs62309777	0.83[ASN][1000 genomes]
rs62309789	0.86[ASN][1000 genomes]
rs62309791	0.87[ASN][1000 genomes]
rs62309833	0.89[ASN][1000 genomes]
rs728701	0.89[ASN][1000 genomes]
rs7356176	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs898762	0.96[CEU][hapmap];0.86[JPT][hapmap]

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	nsv879555	chr4:91743538-91967602	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv491945	chr4:91753638-92240582	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv10533	chr4:91842776-91935992	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv879556	chr4:91889469-91941029	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv879557	chr4:91903868-91954105	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv4423	chr4:91908999-91953040	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv461582	chr4:91910883-91925784	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv594835	chr4:91910883-91925784	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv879558	chr4:91911743-91948999	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv437404	chr4:91914415-91941029	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv594836	chr4:91914972-91942194	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv879559	chr4:91918870-92152678	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv879560	chr4:91919028-91948999	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2035115	HSD17B13	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91924800-91933400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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