Variant report

Variant	rs4491181
Chromosome Location	chr11:16532857-16532858
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16527461..16531095-chr11:16531624..16535473,5	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1004283	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10500830	1.00[ASW][hapmap];0.94[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];0.92[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10741698	0.86[ASW][hapmap];0.89[CEU][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10766324	0.89[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10766325	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10766327	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832602	0.82[EUR][1000 genomes]
rs10832603	0.82[EUR][1000 genomes]
rs10832604	0.89[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs10832607	0.86[ASW][hapmap];0.89[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10832609	0.89[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10832610	0.89[CEU][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10832616	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10832617	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10832619	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10832620	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10832624	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832625	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10832626	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832631	0.87[EUR][1000 genomes]
rs10832632	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10832636	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10832638	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10832644	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10832645	0.87[EUR][1000 genomes]
rs11023932	0.82[EUR][1000 genomes]
rs11023934	0.89[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs11023940	0.84[EUR][1000 genomes]
rs11023942	0.89[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs11023943	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11023947	0.89[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11023964	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11023965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11023969	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11023971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11023985	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11023990	0.83[EUR][1000 genomes]
rs11023991	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11529135	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11529591	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605526	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12221729	0.89[CEU][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs12221945	0.83[EUR][1000 genomes]
rs12221946	0.83[EUR][1000 genomes]
rs12222249	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12364390	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12418604	0.87[EUR][1000 genomes]
rs12421422	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12799024	0.91[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1393924	0.89[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs1393926	1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs1503440	0.89[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs16933105	0.89[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs16933117	0.89[CEU][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1948824	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2134610	0.84[EUR][1000 genomes]
rs2174164	0.86[ASW][hapmap];0.89[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs297325	0.84[CEU][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap]
rs297335	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs297337	0.93[CEU][hapmap];1.00[JPT][hapmap]
rs297338	0.89[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs34952258	0.83[EUR][1000 genomes]
rs4132991	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4237714	0.83[EUR][1000 genomes]
rs4259791	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4307685	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4447141	0.81[EUR][1000 genomes]
rs4550186	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4756850	0.89[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs4756851	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs4757397	0.89[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4757398	0.86[ASW][hapmap];0.89[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4757399	0.84[EUR][1000 genomes]
rs4757402	0.88[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4757403	0.89[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4757410	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4757414	0.83[EUR][1000 genomes]
rs61881805	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61881829	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883215	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61883864	0.91[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs61883867	0.80[EUR][1000 genomes]
rs61883868	0.84[EUR][1000 genomes]
rs7122873	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7483029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935820	0.83[EUR][1000 genomes]
rs7951243	0.94[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7951760	0.89[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs9666320	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9704273	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv1035768	chr11:16530440-16578566	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2761650	chr11:16530452-16541623	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4491181	PTH	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16510400-16533000	Weak transcription	Fetal Heart	heart
2	chr11:16528000-16533400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:16531600-16533000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:16532200-16534600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr11:16532400-16534800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr11:16532600-16533600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:16532600-16534600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:16532800-16533200	Enhancers	Aorta	Aorta
9	chr11:16532800-16533400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr11:16532800-16533400	Enhancers	HSMM	muscle
11	chr11:16532800-16533400	Enhancers	NHEK	skin
12	chr11:16532800-16533600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:16532800-16533600	Enhancers	NHLF	lung
14	chr11:16532800-16533800	Enhancers	Osteobl	bone
15	chr11:16532800-16534000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:16532800-16535600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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