Variant report

Variant	rs12489699
Chromosome Location	chr3:156349481-156349482
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:156346639..156349927-chr3:156351146..156353666,3	K562	blood:
2	chr3:156347156..156349827-chr3:156350754..156354562,3	K562	blood:
3	chr3:156347077..156349787-chr3:156893431..156895606,2	K562	blood:
4	chr3:156322092..156324579-chr3:156349375..156354165,4	K562	blood:
5	chr3:156344548..156346713-chr3:156347054..156349702,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11711144	0.94[ASN][1000 genomes]
rs12493167	0.87[AMR][1000 genomes]
rs12631936	0.86[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs12696038	0.84[CEU][hapmap]
rs13090418	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13314546	0.84[CEU][hapmap]
rs16826570	0.84[CEU][hapmap]
rs16826572	0.84[CEU][hapmap]
rs17367831	0.84[CEU][hapmap]
rs2089735	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2102506	0.86[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs2320895	0.83[CEU][hapmap]
rs6441080	0.84[CEU][hapmap]
rs6650896	0.84[CEU][hapmap]
rs6762513	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6762762	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6807235	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6808027	0.84[CEU][hapmap]
rs7618375	0.84[CEU][hapmap]
rs7632294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7640295	0.82[CEU][hapmap]
rs7640363	0.84[CEU][hapmap]
rs7652356	0.84[CEU][hapmap]
rs874641	0.84[CEU][hapmap]
rs874662	0.84[CEU][hapmap]
rs9811767	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9819659	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9831507	0.84[CEU][hapmap]
rs9832367	0.84[CEU][hapmap]
rs9833654	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9843340	0.84[CEU][hapmap]
rs9865431	0.92[CEU][hapmap];0.81[JPT][hapmap];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9870053	0.82[CEU][hapmap]
rs9870256	0.84[CEU][hapmap]
rs9870575	0.84[CEU][hapmap]
rs9882596	0.84[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014755	chr3:155889430-156411894	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 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	chr3:156343600-156349600	Enhancers	NHEK	skin
2	chr3:156344400-156350200	Weak transcription	K562	blood
3	chr3:156345400-156349600	Enhancers	HMEC	breast
4	chr3:156345600-156349600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:156345600-156349600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:156345600-156350600	Enhancers	HSMMtube	muscle
7	chr3:156345800-156349600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:156346000-156349600	Enhancers	Osteobl	bone
9	chr3:156346000-156349800	Enhancers	HSMM	muscle
10	chr3:156346600-156350800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:156346800-156350000	Weak transcription	Fetal Heart	heart
12	chr3:156347000-156352000	Enhancers	Fetal Muscle Leg	muscle
13	chr3:156347200-156349600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr3:156347600-156353800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:156347800-156350200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr3:156348000-156350800	Weak transcription	Left Ventricle	heart
17	chr3:156348800-156349600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr3:156348800-156351200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:156348800-156352600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr3:156348800-156360600	Weak transcription	Right Atrium	heart
21	chr3:156349000-156349600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr3:156349000-156350800	Weak transcription	Psoas Muscle	Psoas
23	chr3:156349200-156351200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:156349400-156350400	Weak transcription	Pancreas	Pancrea
25	chr3:156349400-156350800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:156349400-156350800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:156349400-156351600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:156349400-156361000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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