Variant report

Variant	rs1119750
Chromosome Location	chr2:188862891-188862892
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10181019	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1023759	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10804019	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10931320	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10931321	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10931323	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10931324	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12621219	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13384776	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13421118	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1400078	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1400079	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1516131	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1850180	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1972870	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1972871	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1972872	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2033838	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2048832	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2083338	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2165148	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2165149	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57522126	0.86[EUR][1000 genomes]
rs61388721	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6434251	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6739652	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6740176	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6742556	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7557054	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7558684	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7607557	0.95[AMR][1000 genomes];0.98[EUR][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

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188858800-188864600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:188860200-188865200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:188861000-188863400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:188861000-188864400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:188861200-188863200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:188861200-188866400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:188861400-188864000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:188861400-188864600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:188862200-188866800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:188862400-188866600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:188862400-188866600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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