Variant report

Variant	rs16852083
Chromosome Location	chr1:224885386-224885387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224883559..224885900-chr1:224887129..224888856,2	K562	blood:
2	chr1:224885130..224887925-chr1:224889858..224891472,2	MCF-7	breast:
3	chr1:224884331..224887289-chr1:224890034..224891821,2	MCF-7	breast:
4	chr1:224882945..224885447-chr1:224889455..224891684,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1004222	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]
rs10495226	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10915688	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12117838	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12118368	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12122421	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12124222	1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12125381	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12130632	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]
rs12135641	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12136553	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12137592	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12139845	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12143128	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12143215	1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12143246	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16850250	1.00[YRI][hapmap]
rs16852009	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16852027	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16852032	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16852090	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];0.90[ASN][1000 genomes]
rs2405527	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]
rs4360496	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5002414	1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55927231	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6666956	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6672460	1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6685335	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6685547	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6694298	1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6694864	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6695061	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6695253	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6695579	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6696394	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs879363	0.93[AMR][1000 genomes];0.92[EUR][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	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224862400-224902000	Weak transcription	Pancreas	Pancrea
2	chr1:224875600-224888400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:224877600-224891600	Weak transcription	Dnd41	blood
4	chr1:224881400-224895400	Weak transcription	Ovary	ovary
5	chr1:224884000-224885800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:224884000-224885800	Enhancers	NHDF-Ad	bronchial
7	chr1:224884000-224887000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:224884200-224885600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:224884200-224885800	Enhancers	Fetal Brain Male	brain
10	chr1:224884200-224886200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:224884200-224886400	Enhancers	Brain Germinal Matrix	brain
12	chr1:224884200-224887400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:224884600-224885400	Enhancers	Fetal Brain Female	brain
14	chr1:224884600-224885600	Enhancers	NH-A	brain
15	chr1:224884600-224885800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:224884600-224886200	Enhancers	Brain Cingulate Gyrus	brain
17	chr1:224884800-224885400	Enhancers	HSMMtube	muscle
18	chr1:224884800-224885800	Enhancers	NHLF	lung
19	chr1:224884800-224886200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:224884800-224886200	Enhancers	Brain Angular Gyrus	brain
21	chr1:224884800-224886400	Enhancers	Brain Hippocampus Middle	brain
22	chr1:224884800-224886800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr1:224885000-224885600	Enhancers	HSMM	muscle
24	chr1:224885000-224885800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:224885000-224885800	Enhancers	Osteobl	bone
26	chr1:224885000-224886200	Enhancers	Adipose Nuclei	Adipose
27	chr1:224885000-224886400	Enhancers	Brain Substantia Nigra	brain
28	chr1:224885000-224886600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:224885000-224920200	Weak transcription	Right Atrium	heart
30	chr1:224885200-224885600	Enhancers	HMEC	breast
31	chr1:224885200-224886000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:224885200-224886200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:224885200-224891200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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