Variant report

Variant	rs12646142
Chromosome Location	chr4:20318837-20318838
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	chr4:20318342..20320290-chr4:20322112..20324670,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10516351	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10805216	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10938788	0.94[CEU][hapmap];0.81[GIH][hapmap];0.80[MEX][hapmap];0.96[TSI][hapmap];0.87[EUR][1000 genomes]
rs10938793	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10938794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12233652	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs12233914	0.83[CEU][hapmap];0.92[GIH][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12508158	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12511950	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12648551	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1344849	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16869521	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16869526	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1853386	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3945867	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4697157	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55911061	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58086451	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61333152	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66478358	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66615925	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66875143	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66960874	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66981451	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67264035	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67506381	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6824589	0.86[EUR][1000 genomes]
rs6828506	0.88[CEU][hapmap];0.82[TSI][hapmap]
rs72619155	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7680945	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv593792	chr4:20275477-20362716	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv593793	chr4:20282334-20333722	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv878740	chr4:20292239-20333722	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20291800-20319000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:20299400-20319000	Weak transcription	NHLF	lung
3	chr4:20306200-20325600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:20313600-20319000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:20314000-20319000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:20315600-20325600	Weak transcription	Lung	lung
7	chr4:20315600-20328000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:20316000-20321800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:20317000-20319000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:20317000-20322200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr4:20317000-20323400	Enhancers	Brain Hippocampus Middle	brain
12	chr4:20317200-20319000	Weak transcription	Brain Substantia Nigra	brain
13	chr4:20317600-20319000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:20317800-20319000	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:20317800-20319400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:20318000-20321800	Enhancers	Brain Cingulate Gyrus	brain
17	chr4:20318200-20319800	Enhancers	Osteobl	bone
18	chr4:20318400-20319000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:20318400-20319000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:20318400-20319000	Enhancers	Fetal Lung	lung
21	chr4:20318600-20319400	Flanking Active TSS	NHDF-Ad	bronchial
22	chr4:20318600-20319800	Enhancers	Brain Anterior Caudate	brain
23	chr4:20318600-20321000	Enhancers	Brain Angular Gyrus	brain
24	chr4:20318600-20321800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:20318800-20320400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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