Variant report

Variant	rs4237714
Chromosome Location	chr11:16616916-16616917
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16611164..16612979-chr11:16614999..16617822,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10500830	0.94[CEU][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs10741698	0.89[CEU][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap]
rs10766324	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs10766327	0.83[EUR][1000 genomes]
rs10766338	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10766342	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10832604	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs10832607	0.89[CEU][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap]
rs10832609	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs10832610	0.89[CEU][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap]
rs10832616	0.81[EUR][1000 genomes]
rs10832617	0.81[EUR][1000 genomes]
rs10832619	1.00[CEU][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs10832620	0.83[EUR][1000 genomes]
rs10832624	0.83[EUR][1000 genomes]
rs10832625	0.83[EUR][1000 genomes]
rs10832626	0.83[EUR][1000 genomes]
rs10832631	0.84[EUR][1000 genomes]
rs10832632	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10832636	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10832638	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10832644	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10832645	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10832650	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832651	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832652	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832676	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10832677	0.87[AMR][1000 genomes]
rs11023934	0.89[CEU][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap]
rs11023942	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs11023947	0.89[CEU][hapmap];0.85[JPT][hapmap]
rs11023964	0.83[EUR][1000 genomes]
rs11023965	0.83[EUR][1000 genomes]
rs11023969	0.83[EUR][1000 genomes]
rs11023971	0.83[EUR][1000 genomes]
rs11023985	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11023990	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11023991	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11024014	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11024029	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.93[TSI][hapmap]
rs11024030	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11024032	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11529135	0.83[EUR][1000 genomes]
rs11529591	0.83[EUR][1000 genomes]
rs11529598	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11605526	0.81[EUR][1000 genomes]
rs11826990	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12221729	0.89[CEU][hapmap];0.85[JPT][hapmap];0.85[TSI][hapmap]
rs12223732	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12418604	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12418941	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12421422	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12421640	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12799024	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1392999	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1393926	0.86[JPT][hapmap];0.90[MEX][hapmap]
rs1472589	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1503440	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs1532672	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16933105	0.89[CEU][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap]
rs16933117	0.89[CEU][hapmap]
rs1948824	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs2174164	0.89[CEU][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap]
rs2270886	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3203295	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34952258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4132991	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4259791	0.83[EUR][1000 genomes]
rs4307685	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4447141	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4491181	0.83[EUR][1000 genomes]
rs4550186	0.83[EUR][1000 genomes]
rs4756850	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs4756851	0.92[JPT][hapmap]
rs4756858	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4756861	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4757397	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs4757398	0.89[CEU][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap]
rs4757402	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs4757403	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs4757410	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4757414	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4757425	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4757429	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61881805	0.81[EUR][1000 genomes]
rs61881829	0.83[EUR][1000 genomes]
rs61881830	0.83[EUR][1000 genomes]
rs61881966	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61883864	0.87[ASN][1000 genomes]
rs61883867	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61883868	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7122873	0.83[EUR][1000 genomes]
rs7481820	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7483029	0.83[EUR][1000 genomes]
rs7951243	0.94[CEU][hapmap];0.92[JPT][hapmap]
rs7951760	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs9666320	0.82[EUR][1000 genomes]
rs9704273	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[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	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv897016	chr11:16455794-16691743	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4237714	PTH	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16608000-16621600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr11:16608800-16617200	Weak transcription	Brain Germinal Matrix	brain
3	chr11:16610200-16617200	Weak transcription	K562	blood
4	chr11:16610400-16617000	Weak transcription	Psoas Muscle	Psoas
5	chr11:16610400-16617800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr11:16610400-16623800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr11:16616000-16617200	Weak transcription	Fetal Heart	heart
8	chr11:16616000-16617200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:16616000-16623400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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