Variant report

Variant	rs6043523
Chromosome Location	chr20:15740494-15740495
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16996513	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16996604	0.81[CHD][hapmap];0.84[ASN][1000 genomes]
rs2041424	0.81[CHD][hapmap];0.84[ASN][1000 genomes]
rs6043522	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6043527	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244070	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73246120	0.88[ASN][1000 genomes]
rs73246165	0.88[ASN][1000 genomes]
rs8116346	0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv833928	chr20:15619962-15780758	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv912791	chr20:15702037-15759361	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv912792	chr20:15724399-15749292	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv458934	chr20:15738086-15772582	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv585641	chr20:15738086-15772582	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv585642	chr20:15738086-15772876	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv519883	chr20:15738086-15817106	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15736800-15740800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr20:15739600-15741600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr20:15740000-15740600	Enhancers	NHDF-Ad	bronchial
4	chr20:15740000-15741000	Enhancers	Fetal Stomach	stomach
5	chr20:15740000-15741400	Enhancers	Brain Angular Gyrus	brain
6	chr20:15740000-15741400	Enhancers	Brain Germinal Matrix	brain
7	chr20:15740000-15741400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr20:15740000-15741600	Enhancers	Fetal Kidney	kidney
9	chr20:15740200-15740600	Enhancers	Rectal Smooth Muscle	rectum
10	chr20:15740200-15740800	Active TSS	Stomach Smooth Muscle	stomach
11	chr20:15740200-15741000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr20:15740200-15741000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr20:15740200-15741000	Enhancers	Brain Anterior Caudate	brain
14	chr20:15740200-15741200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr20:15740200-15741200	Enhancers	Ovary	ovary
16	chr20:15740200-15741600	Enhancers	Fetal Muscle Leg	muscle
17	chr20:15740200-15741800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr20:15740200-15743200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr20:15740400-15740600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr20:15740400-15740800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr20:15740400-15740800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr20:15740400-15740800	Active TSS	Brain Cingulate Gyrus	brain
23	chr20:15740400-15740800	Active TSS	Brain Hippocampus Middle	brain
24	chr20:15740400-15740800	Flanking Active TSS	Brain Substantia Nigra	brain
25	chr20:15740400-15740800	Active TSS	Fetal Muscle Trunk	muscle
26	chr20:15740400-15741000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr20:15740400-15741000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr20:15740400-15741200	Weak transcription	Fetal Brain Female	brain
29	chr20:15740400-15741200	Enhancers	Placenta	Placenta
30	chr20:15740400-15741400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr20:15740400-15741400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr20:15740400-15741400	Enhancers	HSMMtube	muscle
33	chr20:15740400-15741600	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr20:15740400-15741600	Enhancers	Fetal Heart	heart
35	chr20:15740400-15741600	Enhancers	HSMM	muscle

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