Variant report

Variant	rs1986717
Chromosome Location	chr13:30029818-30029819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30019008..30022354-chr13:30026041..30029936,4	K562	blood:
2	chr13:30023123..30025687-chr13:30027980..30030025,2	K562	blood:
3	chr13:30007620..30009722-chr13:30028117..30030313,2	MCF-7	breast:
4	chr13:30028894..30030049-chr13:30046232..30047100,5	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs17073389	1.00[CEU][hapmap];0.88[GIH][hapmap];0.93[TSI][hapmap]
rs17073395	0.95[EUR][1000 genomes]
rs17073412	1.00[CEU][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17073418	1.00[CEU][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17073426	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17073446	0.84[YRI][hapmap]
rs17073450	0.83[YRI][hapmap]
rs17658712	1.00[CEU][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17658743	1.00[CEU][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2388077	0.95[EUR][1000 genomes]
rs3923361	0.95[EUR][1000 genomes]
rs4379923	1.00[CEU][hapmap];0.94[GIH][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs4512950	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs4616138	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs55842638	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56091401	0.93[EUR][1000 genomes]
rs56394814	0.95[EUR][1000 genomes]
rs57161860	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57762277	0.95[EUR][1000 genomes]
rs57959769	0.95[EUR][1000 genomes]
rs57993747	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58044581	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58848825	0.95[EUR][1000 genomes]
rs59698584	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60642819	0.95[EUR][1000 genomes]
rs60977472	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61139396	0.93[EUR][1000 genomes]
rs61281018	0.93[EUR][1000 genomes]
rs71090257	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7317720	0.95[EUR][1000 genomes]
rs7335252	1.00[CEU][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7336242	1.00[CEU][hapmap];0.92[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7339339	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73444071	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73444079	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73444086	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73444091	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73444093	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73444097	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73444099	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73444101	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73446103	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73446106	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73446109	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73446111	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs74042075	0.90[EUR][1000 genomes]
rs74042084	0.95[EUR][1000 genomes]
rs74042086	0.95[EUR][1000 genomes]
rs74042090	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs74042093	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7999813	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs8002833	1.00[CEU][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8003005	1.00[CEU][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9508462	0.95[EUR][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	nsv427927	chr13:29729315-30062054	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv275414	chr13:30029818-30036181	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30014400-30031400	Weak transcription	Hela-S3	cervix
2	chr13:30015200-30054800	Weak transcription	Dnd41	blood
3	chr13:30027000-30032000	Enhancers	Fetal Heart	heart
4	chr13:30027800-30030400	Weak transcription	HSMMtube	muscle
5	chr13:30028000-30030600	Weak transcription	Ovary	ovary
6	chr13:30028000-30030600	Weak transcription	NHDF-Ad	bronchial
7	chr13:30028600-30034800	Enhancers	HMEC	breast
8	chr13:30029000-30030200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr13:30029200-30030600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:30029200-30030600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:30029200-30031600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr13:30029200-30038800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr13:30029400-30038200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr13:30029600-30030600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:30029600-30031200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:30029600-30036000	Weak transcription	Left Ventricle	heart
17	chr13:30029600-30039400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr13:30029600-30039600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr13:30029800-30030200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr13:30029800-30030200	Weak transcription	NHEK	skin
21	chr13:30029800-30031400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr13:30029800-30035000	Enhancers	K562	blood

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