Variant report

Variant	rs1371521
Chromosome Location	chr2:188943179-188943180
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10931335	1.00[EUR][1000 genomes]
rs10931337	1.00[EUR][1000 genomes]
rs1121343	1.00[CEU][hapmap];0.92[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1160666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11685385	1.00[EUR][1000 genomes]
rs11890363	1.00[EUR][1000 genomes]
rs12463704	0.89[EUR][1000 genomes]
rs12467500	1.00[EUR][1000 genomes]
rs12619048	1.00[EUR][1000 genomes]
rs12994820	1.00[EUR][1000 genomes]
rs13002260	1.00[EUR][1000 genomes]
rs1371520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1371522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1371531	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1371532	1.00[EUR][1000 genomes]
rs1371533	1.00[EUR][1000 genomes]
rs1439891	0.89[EUR][1000 genomes]
rs1439892	1.00[EUR][1000 genomes]
rs1439893	1.00[EUR][1000 genomes]
rs1439902	1.00[EUR][1000 genomes]
rs1439907	1.00[EUR][1000 genomes]
rs1439911	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1583764	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1595708	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1595759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16829807	1.00[EUR][1000 genomes]
rs1816714	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1821999	1.00[CEU][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1898985	1.00[EUR][1000 genomes]
rs1975387	1.00[EUR][1000 genomes]
rs2016081	1.00[EUR][1000 genomes]
rs2083340	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2119092	1.00[EUR][1000 genomes]
rs2165151	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2350562	1.00[EUR][1000 genomes]
rs28781634	1.00[EUR][1000 genomes]
rs35745831	0.82[EUR][1000 genomes]
rs4312445	1.00[EUR][1000 genomes]
rs4527172	1.00[EUR][1000 genomes]
rs4666755	0.89[EUR][1000 genomes]
rs4666756	1.00[EUR][1000 genomes]
rs60748281	1.00[EUR][1000 genomes]
rs62181869	1.00[EUR][1000 genomes]
rs6434265	1.00[EUR][1000 genomes]
rs6706718	1.00[EUR][1000 genomes]
rs6707798	1.00[EUR][1000 genomes]
rs6710330	1.00[EUR][1000 genomes]
rs6725429	1.00[EUR][1000 genomes]
rs6726669	1.00[EUR][1000 genomes]
rs6727326	1.00[EUR][1000 genomes]
rs6737451	1.00[EUR][1000 genomes]
rs6737703	0.89[EUR][1000 genomes]
rs6740546	1.00[EUR][1000 genomes]
rs6742274	1.00[EUR][1000 genomes]
rs6746152	1.00[EUR][1000 genomes]
rs7349430	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73977992	1.00[EUR][1000 genomes]
rs73982108	1.00[EUR][1000 genomes]
rs7567661	1.00[EUR][1000 genomes]
rs7573123	1.00[EUR][1000 genomes]
rs7597357	1.00[EUR][1000 genomes]
rs7601757	1.00[EUR][1000 genomes]
rs966843	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs993209	1.00[EUR][1000 genomes]
rs994871	1.00[EUR][1000 genomes]
rs997046	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv875602	chr2:188923773-189016215	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv875603	chr2:188923773-189025977	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv584044	chr2:188928433-189016215	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1002714	chr2:188934297-189025084	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188939800-188944000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:188942400-188944600	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:188942800-188943600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:188942800-188943600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr2:188943000-188943400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:188943000-188943400	Flanking Active TSS	GM12878-XiMat	blood

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