Variant report

Variant	rs1197306
Chromosome Location	chr3:133102534-133102535
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133101161..133103236-chr3:133110708..133113387,2	MCF-7	breast:
2	chr3:133100753..133103511-chr3:133104610..133107430,2	K562	blood:
3	chr3:133100831..133103449-chr3:133112603..133115144,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1109858	0.82[JPT][hapmap]
rs1114630	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1197287	0.91[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs1197288	0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1197293	0.82[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs1197296	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1197297	0.89[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1197298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1197299	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1197301	0.90[ASN][1000 genomes]
rs1197302	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1197304	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1197305	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1197308	0.83[JPT][hapmap]
rs1197309	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1197313	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1197314	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1201671	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1201673	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12631678	0.85[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1619552	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1619622	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1708376	0.96[ASN][1000 genomes]
rs1708377	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1708384	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1708385	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1795101	0.83[JPT][hapmap]
rs1795104	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1795107	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2089987	0.87[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2670179	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2699880	0.88[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2699882	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3732572	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4854583	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4854719	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4854720	0.84[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56181416	0.86[ASN][1000 genomes]
rs656721	0.95[JPT][hapmap]
rs6780144	0.92[ASN][1000 genomes]
rs6802663	0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs938231	0.87[ASN][1000 genomes]
rs9850193	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9853752	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9853757	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[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	nsv877503	chr3:133035774-133104631	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv460857	chr3:133101390-133122216	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv591801	chr3:133101390-133122216	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133094000-133109000	Weak transcription	HSMM	muscle
2	chr3:133094400-133102800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:133094800-133110400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:133095200-133103200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr3:133095800-133103200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr3:133096000-133107800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:133096400-133103200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:133098800-133103600	Weak transcription	Spleen	Spleen
9	chr3:133098800-133103800	Enhancers	Fetal Brain Male	brain
10	chr3:133099000-133117000	Weak transcription	Placenta	Placenta
11	chr3:133099600-133122600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:133099800-133103000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:133100200-133103200	Weak transcription	Brain Hippocampus Middle	brain
14	chr3:133100200-133103600	Weak transcription	Brain Germinal Matrix	brain
15	chr3:133100400-133102800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:133100400-133103000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:133100400-133103200	Weak transcription	Brain Angular Gyrus	brain
18	chr3:133100800-133102800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr3:133100800-133111600	Weak transcription	HSMMtube	muscle
20	chr3:133101000-133103000	Weak transcription	Liver	Liver
21	chr3:133101000-133103800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr3:133101200-133103200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr3:133101200-133103400	Enhancers	Lung	lung
24	chr3:133101400-133103000	Weak transcription	Pancreas	Pancrea
25	chr3:133101600-133104000	Enhancers	HMEC	breast
26	chr3:133101800-133103200	Weak transcription	Fetal Thymus	thymus
27	chr3:133101800-133103800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr3:133102000-133102800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:133102000-133102800	Strong transcription	Fetal Lung	lung
30	chr3:133102000-133104200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:133102000-133104200	Enhancers	NHEK	skin
32	chr3:133102200-133102600	Enhancers	Fetal Brain Female	brain
33	chr3:133102200-133103400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:133102200-133103400	Enhancers	Stomach Mucosa	stomach
35	chr3:133102200-133103600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:133102200-133103800	Enhancers	HUVEC	blood vessel
37	chr3:133102400-133102600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr3:133102400-133103400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:133102400-133103800	Enhancers	Fetal Muscle Leg	muscle
40	chr3:133102400-133112400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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