Variant report

Variant	rs283044
Chromosome Location	chr6:118629865-118629866
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:118628896..118631734-chr6:118872419..118875351,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11758375	0.82[CHB][hapmap]
rs11758402	0.80[ASN][1000 genomes]
rs11968293	0.88[CHB][hapmap];0.89[ASN][1000 genomes]
rs12212582	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1572226	0.88[CHB][hapmap];0.89[ASN][1000 genomes]
rs1690662	0.94[ASN][1000 genomes]
rs1874081	0.84[ASN][1000 genomes]
rs188181	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs190756	0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs1923282	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs281861	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs281864	0.81[ASN][1000 genomes]
rs281867	1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[YRI][hapmap];0.82[ASN][1000 genomes]
rs281868	0.94[CHB][hapmap]
rs283040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283042	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]
rs283045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283046	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs283047	0.87[ASN][1000 genomes]
rs283048	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs283049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283051	0.87[ASN][1000 genomes]
rs283057	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs283061	0.86[ASN][1000 genomes]
rs283062	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283066	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs283067	0.87[ASN][1000 genomes]
rs283077	0.94[CHB][hapmap]
rs283081	0.94[CHB][hapmap];0.84[YRI][hapmap]
rs283082	0.94[CHB][hapmap];0.81[YRI][hapmap]
rs283083	0.83[YRI][hapmap]
rs283084	0.94[CHB][hapmap]
rs283085	0.94[CHB][hapmap]
rs283086	0.94[CHB][hapmap]
rs283088	0.94[CHB][hapmap]
rs283091	0.94[CHB][hapmap];0.81[YRI][hapmap]
rs369383	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs372237	1.00[CHB][hapmap];0.84[YRI][hapmap]
rs376875	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs387266	0.84[ASN][1000 genomes]
rs387945	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs397445	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs399844	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs413876	0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs414091	0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs419592	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs422268	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs422833	0.94[CHB][hapmap];0.82[YRI][hapmap]
rs431115	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs445099	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs445566	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs447193	0.94[CHB][hapmap]
rs450093	0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs4946333	0.94[CHB][hapmap]
rs4946336	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]
rs6912208	0.88[CHB][hapmap]
rs6927800	0.83[CHB][hapmap]
rs731695	0.82[CHB][hapmap]
rs7452622	0.81[CHB][hapmap]
rs7749263	0.83[CHB][hapmap]
rs89107	0.94[CHB][hapmap]
rs927348	0.83[CHB][hapmap]
rs9401060	0.94[CHB][hapmap]
rs9489327	0.83[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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118625000-118631600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr6:118627000-118630600	Enhancers	Fetal Brain Male	brain
3	chr6:118627000-118631400	Enhancers	Brain Germinal Matrix	brain
4	chr6:118627000-118631400	Enhancers	Colon Smooth Muscle	Colon
5	chr6:118627800-118630200	Weak transcription	Right Atrium	heart
6	chr6:118627800-118631600	Enhancers	Stomach Smooth Muscle	stomach
7	chr6:118627800-118638000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:118627800-118641000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:118628000-118631200	Weak transcription	Fetal Stomach	stomach
10	chr6:118628800-118630400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:118629000-118630000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:118629000-118630200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:118629000-118640800	Weak transcription	Fetal Brain Female	brain
14	chr6:118629200-118630000	Weak transcription	Brain Substantia Nigra	brain
15	chr6:118629200-118630200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:118629200-118630200	Weak transcription	Left Ventricle	heart
17	chr6:118629200-118630600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:118629200-118630600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr6:118629200-118631400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr6:118629200-118635200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:118629200-118640600	Weak transcription	Ovary	ovary
22	chr6:118629200-118641000	Weak transcription	Brain Angular Gyrus	brain
23	chr6:118629400-118630000	Weak transcription	Fetal Muscle Leg	muscle
24	chr6:118629400-118631000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr6:118629400-118640600	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:118629800-118630400	Enhancers	Brain Anterior Caudate	brain
27	chr6:118629800-118631400	Enhancers	Aorta	Aorta
28	chr6:118629800-118631400	Enhancers	Psoas Muscle	Psoas
29	chr6:118629800-118631600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:118629800-118632000	Enhancers	Fetal Heart	heart

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