Variant report

Variant	rs450093
Chromosome Location	chr6:118615277-118615278
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11153725	0.84[CHB][hapmap]
rs12212582	0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs1690662	0.83[ASN][1000 genomes]
rs17079862	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[EUR][1000 genomes]
rs172212	0.88[AMR][1000 genomes]
rs176014	0.91[CEU][hapmap];0.94[CHB][hapmap];0.80[JPT][hapmap];0.92[YRI][hapmap];0.82[EUR][1000 genomes]
rs1874082	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs188181	0.84[ASN][1000 genomes]
rs190756	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1923282	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs281866	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs281869	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs281872	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs283040	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs283042	0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs283044	0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs283045	0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs283046	0.87[JPT][hapmap]
rs283047	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs283049	0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs283050	0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs283051	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs283052	0.88[AMR][1000 genomes]
rs283053	0.90[AMR][1000 genomes]
rs283054	0.88[AMR][1000 genomes]
rs283055	0.88[AMR][1000 genomes]
rs283057	0.83[ASN][1000 genomes]
rs283061	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs283062	0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs283066	0.84[ASN][1000 genomes]
rs283067	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs283083	0.91[CEU][hapmap];0.94[CHB][hapmap];0.95[YRI][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2883849	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs369383	0.85[ASN][1000 genomes]
rs376875	0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs387266	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs387945	0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs397445	0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs399844	0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs413876	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs414091	0.84[ASN][1000 genomes]
rs419592	0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs422268	0.87[ASN][1000 genomes]
rs427027	0.91[CEU][hapmap];0.94[CHB][hapmap];0.91[YRI][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs431115	0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs445099	0.85[ASN][1000 genomes]
rs445566	0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs4945618	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[EUR][1000 genomes]
rs4946336	0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs7762823	0.84[CHB][hapmap]
rs9320646	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9385038	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9489326	0.84[CHB][hapmap]

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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118607600-118616000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:118607600-118617000	Weak transcription	Fetal Muscle Leg	muscle
3	chr6:118609000-118616400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:118609800-118616600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:118610200-118617200	Weak transcription	Left Ventricle	heart
6	chr6:118612800-118618000	Enhancers	Colon Smooth Muscle	Colon
7	chr6:118613200-118616800	Enhancers	Fetal Stomach	stomach
8	chr6:118613400-118615600	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr6:118613400-118618400	Enhancers	Rectal Smooth Muscle	rectum
10	chr6:118614000-118616800	Weak transcription	Brain Germinal Matrix	brain
11	chr6:118614200-118615600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:118614200-118615600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr6:118614400-118620200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:118614600-118616200	Weak transcription	Psoas Muscle	Psoas
15	chr6:118615000-118618800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr6:118615200-118615800	Flanking Active TSS	Fetal Heart	heart
17	chr6:118615200-118616600	Weak transcription	Aorta	Aorta

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