Variant report

Variant	rs339684
Chromosome Location	chr3:42783635-42783636
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:42781201..42784093-chr3:42790186..42792951,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10490794	0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10865922	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11129976	0.88[CEU][hapmap]
rs11718476	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.94[ASN][1000 genomes]
rs11922251	0.96[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs11922832	0.87[CEU][hapmap]
rs11929390	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12054446	0.95[ASN][1000 genomes]
rs12487729	0.94[ASN][1000 genomes]
rs12491179	0.91[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12633707	0.92[ASN][1000 genomes]
rs12635736	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.99[ASN][1000 genomes]
rs12639142	0.91[CEU][hapmap];0.91[CHB][hapmap]
rs13070345	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13096498	0.87[CEU][hapmap]
rs2240859	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2372110	0.81[EUR][1000 genomes]
rs339687	0.86[EUR][1000 genomes]
rs339731	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34549959	0.92[ASN][1000 genomes]
rs3843369	0.80[EUR][1000 genomes]
rs3846063	0.91[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3895740	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[ASN][1000 genomes]
rs3907218	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3912104	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[ASN][1000 genomes]
rs3916334	0.94[ASN][1000 genomes]
rs4683332	0.87[CEU][hapmap]
rs4683335	0.87[CEU][hapmap]
rs60706321	0.85[ASN][1000 genomes]
rs6779561	0.87[CEU][hapmap]
rs6807878	0.89[ASN][1000 genomes]
rs7639170	0.96[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.94[ASN][1000 genomes]
rs7639483	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[ASN][1000 genomes]
rs7641046	0.87[CEU][hapmap]
rs9830553	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[ASN][1000 genomes]
rs9839430	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013578	chr3:42747858-42817321	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv999713	chr3:42749022-42817321	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42769600-42785600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:42769800-42787600	Weak transcription	Gastric	stomach
3	chr3:42776800-42787000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:42778000-42811000	Weak transcription	Spleen	Spleen
5	chr3:42778200-42788000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:42778400-42786400	Weak transcription	Right Ventricle	heart
7	chr3:42780600-42783800	Enhancers	Brain Hippocampus Middle	brain
8	chr3:42780600-42783800	Enhancers	Brain Substantia Nigra	brain
9	chr3:42780800-42783800	Enhancers	Fetal Muscle Leg	muscle
10	chr3:42781000-42788600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr3:42781200-42783800	Enhancers	Fetal Heart	heart
12	chr3:42781200-42784800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr3:42781200-42787400	Weak transcription	Aorta	Aorta
14	chr3:42781200-42788600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr3:42781600-42787400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr3:42781800-42802800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:42782000-42784000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr3:42782400-42785400	Weak transcription	Brain Angular Gyrus	brain
19	chr3:42782400-42787400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:42782600-42785200	Weak transcription	Brain Anterior Caudate	brain
21	chr3:42782600-42785400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr3:42783000-42784200	Weak transcription	Left Ventricle	heart
23	chr3:42783400-42783800	Enhancers	HSMMtube	muscle
24	chr3:42783600-42784000	Enhancers	HepG2	liver
25	chr3:42783600-42785200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr3:42783600-42785200	Weak transcription	Right Atrium	heart
27	chr3:42783600-42785400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:42783600-42786400	Weak transcription	Psoas Muscle	Psoas

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