Variant report

Variant	rs283047
Chromosome Location	chr6:118627255-118627256
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12212582	0.85[ASN][1000 genomes]
rs1690662	0.81[ASN][1000 genomes]
rs172212	0.89[AMR][1000 genomes]
rs1874082	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs188181	0.87[ASN][1000 genomes]
rs190756	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs281866	0.82[ASN][1000 genomes]
rs281869	0.82[ASN][1000 genomes]
rs281872	0.81[ASN][1000 genomes]
rs283040	0.87[ASN][1000 genomes]
rs283042	0.87[ASN][1000 genomes]
rs283044	0.87[ASN][1000 genomes]
rs283045	0.87[ASN][1000 genomes]
rs283049	0.87[ASN][1000 genomes]
rs283050	0.87[ASN][1000 genomes]
rs283051	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283052	0.89[AMR][1000 genomes]
rs283053	0.91[AMR][1000 genomes]
rs283054	0.89[AMR][1000 genomes]
rs283055	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs283057	0.86[ASN][1000 genomes]
rs283061	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs283062	0.87[ASN][1000 genomes]
rs283066	0.87[ASN][1000 genomes]
rs283067	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs369383	0.84[ASN][1000 genomes]
rs376875	0.81[ASN][1000 genomes]
rs387266	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs387945	0.84[ASN][1000 genomes]
rs397445	0.83[ASN][1000 genomes]
rs399844	0.82[ASN][1000 genomes]
rs413876	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs414091	0.81[ASN][1000 genomes]
rs419592	0.84[ASN][1000 genomes]
rs422268	0.84[ASN][1000 genomes]
rs431115	0.81[ASN][1000 genomes]
rs445099	0.84[ASN][1000 genomes]
rs445566	0.84[ASN][1000 genomes]
rs450093	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4946336	0.87[ASN][1000 genomes]
rs9320646	0.81[ASN][1000 genomes]
rs9385038	0.81[ASN][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	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118621200-118627800	Weak transcription	Fetal Stomach	stomach
2	chr6:118625000-118631600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr6:118626400-118628600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:118626400-118629400	Enhancers	Aorta	Aorta
5	chr6:118626800-118629200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:118626800-118629400	Enhancers	Rectal Smooth Muscle	rectum
7	chr6:118627000-118628000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:118627000-118628200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:118627000-118630600	Enhancers	Fetal Brain Male	brain
10	chr6:118627000-118631400	Enhancers	Brain Germinal Matrix	brain
11	chr6:118627000-118631400	Enhancers	Colon Smooth Muscle	Colon
12	chr6:118627200-118627400	Enhancers	Fetal Muscle Leg	muscle
13	chr6:118627200-118627400	Enhancers	Stomach Smooth Muscle	stomach
14	chr6:118627200-118627600	Enhancers	Left Ventricle	heart
15	chr6:118627200-118627800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:118627200-118628000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:118627200-118628200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:118627200-118628400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:118627200-118628400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr6:118627200-118628400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr6:118627200-118628600	Enhancers	Brain Angular Gyrus	brain
22	chr6:118627200-118628600	Enhancers	Brain Substantia Nigra	brain
23	chr6:118627200-118628800	Enhancers	Brain Anterior Caudate	brain
24	chr6:118627200-118628800	Enhancers	Brain Hippocampus Middle	brain
25	chr6:118627200-118629200	Enhancers	Fetal Heart	heart

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