Variant report

Variant	rs12072937
Chromosome Location	chr1:67048995-67048996
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:67048310..67050858-chr1:67148438..67150245,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10127489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10127497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10127994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10128053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10159265	0.86[EUR][1000 genomes]
rs11208911	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208912	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11208922	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs11208940	0.90[JPT][hapmap]
rs11208952	0.83[CEU][hapmap]
rs12057164	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12062570	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs12066541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12069946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12070270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12074963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12085282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12091471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12091475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12094526	0.90[JPT][hapmap]
rs13376692	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs1348674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1445573	0.96[YRI][hapmap];0.86[AFR][1000 genomes]
rs1445574	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1530490	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1530491	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17129100	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17129101	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17129226	0.94[CEU][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes]
rs17129244	0.94[CEU][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes]
rs17129245	0.94[CEU][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs17129252	0.94[CEU][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes]
rs17129269	0.94[CEU][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs17129307	0.94[CEU][hapmap];0.91[JPT][hapmap]
rs17440390	0.94[CEU][hapmap]
rs1832417	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1867631	0.83[YRI][hapmap]
rs1988415	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs20354	0.94[CEU][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2121042	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2166307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2166308	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2182110	0.94[CEU][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes]
rs3901541	0.94[CEU][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41405244	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41418445	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs41511845	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4655639	0.81[ASN][1000 genomes]
rs4655642	0.83[JPT][hapmap]
rs5008753	0.90[JPT][hapmap]
rs55817355	0.86[EUR][1000 genomes]
rs55895340	0.84[EUR][1000 genomes]
rs57572851	0.92[EUR][1000 genomes]
rs58064608	0.93[EUR][1000 genomes]
rs58171402	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58274265	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58418199	0.86[EUR][1000 genomes]
rs61313508	0.86[EUR][1000 genomes]
rs6588210	0.94[CEU][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6588211	0.94[CEU][hapmap];0.89[JPT][hapmap];0.92[EUR][1000 genomes]
rs6588212	0.94[CEU][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6588213	0.94[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs66552897	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6664698	0.88[CEU][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes]
rs6670827	0.91[JPT][hapmap]
rs6689138	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689183	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6689333	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690186	0.82[EUR][1000 genomes]
rs6694782	0.90[JPT][hapmap]
rs6696366	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67915022	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72669451	0.92[EUR][1000 genomes]
rs72669463	0.84[EUR][1000 genomes]
rs72669465	0.84[EUR][1000 genomes]
rs72670251	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72676189	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72676194	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72676196	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72676198	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72679015	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74085003	0.81[EUR][1000 genomes]
rs74087510	0.86[EUR][1000 genomes]
rs7520353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7528240	0.90[EUR][1000 genomes]
rs7531750	0.90[EUR][1000 genomes]
rs7532442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536634	0.94[CEU][hapmap];0.91[JPT][hapmap]
rs7538967	0.94[CEU][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs7540244	0.94[CEU][hapmap];0.81[JPT][hapmap]
rs7543378	0.94[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs7545674	0.94[CEU][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs920986	1.00[CEU][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9787219	0.91[JPT][hapmap]

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	nsv1013351	chr1:67039730-67055937	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1003016	chr1:67043120-67067119	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1013476	chr1:67044630-67065911	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1221	chr1:67047908-67092696	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67041600-67062400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:67043200-67052000	Weak transcription	Brain Angular Gyrus	brain
3	chr1:67043200-67056800	Weak transcription	Brain Anterior Caudate	brain
4	chr1:67043200-67064400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:67043400-67056200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:67043600-67050600	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:67043600-67066600	Weak transcription	Fetal Brain Male	brain
8	chr1:67044000-67057200	Weak transcription	Aorta	Aorta
9	chr1:67044200-67064000	Weak transcription	NH-A	brain
10	chr1:67044800-67050600	Weak transcription	NHDF-Ad	bronchial
11	chr1:67044800-67064000	Weak transcription	Osteobl	bone
12	chr1:67045000-67050400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:67045000-67050600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:67045000-67050600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:67045600-67056000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:67046000-67049400	Weak transcription	Psoas Muscle	Psoas
17	chr1:67046400-67060400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:67048200-67049000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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