Variant report

Variant	rs1393071
Chromosome Location	chr3:143049856-143049857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:143049665..143050247-chr3:143392915..143393904,2	K562	blood:
2	chr3:143047507..143050166-chr3:143127472..143129524,2	K562	blood:
3	chr3:142839696..142842108-chr3:143048440..143050143,2	K562	blood:
4	chr3:143047197..143050151-chr3:143065282..143067644,2	K562	blood:
5	chr3:143049101..143052451-chr3:143056626..143059965,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10446325	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10804689	0.92[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10804690	0.92[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs10804691	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10935488	0.85[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10935489	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11915857	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12493355	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1501628	0.92[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs1501629	0.92[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs1550547	0.84[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs16853428	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16853431	0.98[ASN][1000 genomes]
rs1837784	0.92[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs2165518	0.92[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs2352725	0.92[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2883015	0.92[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs6440163	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6440164	0.92[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs6768217	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6769555	0.92[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs6806677	0.92[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs729509	0.96[ASN][1000 genomes]
rs729511	0.84[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs7632299	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7652901	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9332458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs968586	0.92[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs968587	0.84[CHB][hapmap];0.89[JPT][hapmap];0.97[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	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv2757894	chr3:142992697-143285979	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759184	chr3:142992697-143285979	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143045600-143050600	Enhancers	Fetal Lung	lung
2	chr3:143046600-143050000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:143046600-143050400	Enhancers	Fetal Kidney	kidney
4	chr3:143046600-143051800	Weak transcription	Dnd41	blood
5	chr3:143046600-143056200	Weak transcription	Primary T cells from cord blood	blood
6	chr3:143047200-143050800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:143047400-143050200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:143047400-143050200	Enhancers	Fetal Brain Female	brain
9	chr3:143047600-143051200	Enhancers	NHDF-Ad	bronchial
10	chr3:143047800-143050800	Enhancers	Fetal Brain Male	brain
11	chr3:143048400-143051200	Enhancers	Fetal Muscle Leg	muscle
12	chr3:143048400-143051200	Enhancers	HUVEC	blood vessel
13	chr3:143048600-143050200	Enhancers	HSMM	muscle
14	chr3:143048600-143050400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:143048600-143050800	Enhancers	Brain Cingulate Gyrus	brain
16	chr3:143048600-143051000	Enhancers	Adipose Nuclei	Adipose
17	chr3:143048800-143050000	Weak transcription	Brain Angular Gyrus	brain
18	chr3:143048800-143050000	Weak transcription	Esophagus	oesophagus
19	chr3:143048800-143050200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:143048800-143050200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:143048800-143050200	Enhancers	Fetal Stomach	stomach
22	chr3:143048800-143050800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:143049000-143050000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:143049000-143050000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr3:143049000-143050000	Weak transcription	Psoas Muscle	Psoas
26	chr3:143049000-143050000	Weak transcription	Right Atrium	heart
27	chr3:143049000-143050000	Weak transcription	NH-A	brain
28	chr3:143049000-143050800	Enhancers	Brain Substantia Nigra	brain
29	chr3:143049200-143050000	Weak transcription	Ovary	ovary
30	chr3:143049200-143050000	Weak transcription	Spleen	Spleen
31	chr3:143049200-143050600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr3:143049200-143050800	Enhancers	Brain Anterior Caudate	brain
33	chr3:143049200-143053000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:143049200-143056200	Weak transcription	HSMMtube	muscle
35	chr3:143049200-143056400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr3:143049200-143061200	Weak transcription	Fetal Thymus	thymus
37	chr3:143049400-143050400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr3:143049400-143051200	Enhancers	Brain Hippocampus Middle	brain
39	chr3:143049600-143050200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr3:143049600-143050600	Weak transcription	Liver	Liver
41	chr3:143049800-143050400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:143049800-143051200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr3:143049800-143051400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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