Variant report

Variant	rs10049245
Chromosome Location	chr3:69329602-69329603
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10049350	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10779991	1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[AMR][1000 genomes]
rs1351791	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1351792	1.00[AMR][1000 genomes]
rs1483896	1.00[MEX][hapmap]
rs2170801	1.00[AMR][1000 genomes]
rs2872809	1.00[AMR][1000 genomes]
rs4447768	1.00[MEX][hapmap]
rs4513455	1.00[MEX][hapmap]
rs4615082	0.80[AFR][1000 genomes]
rs4645139	1.00[MEX][hapmap]
rs4855370	1.00[MEX][hapmap];0.82[MKK][hapmap]
rs4855378	1.00[AMR][1000 genomes]
rs4855379	1.00[AMR][1000 genomes]
rs6549191	1.00[MEX][hapmap];0.92[MKK][hapmap]
rs7619331	1.00[AMR][1000 genomes]
rs9310145	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9841198	1.00[AMR][1000 genomes]
rs9858273	0.89[AFR][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	nsv876935	chr3:69307942-69401248	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1012483	chr3:69321191-69340525	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69293000-69343400	Weak transcription	HSMM	muscle
2	chr3:69293400-69339200	Weak transcription	Aorta	Aorta
3	chr3:69299400-69331400	Weak transcription	HUVEC	blood vessel
4	chr3:69309200-69331200	Weak transcription	Fetal Lung	lung
5	chr3:69310000-69337600	Weak transcription	Placenta	Placenta
6	chr3:69310200-69337200	Weak transcription	Lung	lung
7	chr3:69313400-69331000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:69314000-69331400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr3:69315400-69331400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr3:69317600-69332600	Weak transcription	Brain Anterior Caudate	brain
11	chr3:69320800-69331200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:69322400-69331000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr3:69323000-69339200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:69323200-69331400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:69323600-69331000	Weak transcription	Fetal Heart	heart
16	chr3:69325000-69331200	Weak transcription	Brain Hippocampus Middle	brain
17	chr3:69326200-69337800	Weak transcription	Right Atrium	heart
18	chr3:69326400-69332800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:69326400-69336400	Weak transcription	HMEC	breast
20	chr3:69326600-69331400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:69327000-69332600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:69327400-69337200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:69327600-69343200	Weak transcription	Fetal Stomach	stomach
24	chr3:69328200-69337400	Weak transcription	Thymus	Thymus
25	chr3:69328400-69329800	Strong transcription	NHEK	skin
26	chr3:69328400-69331200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:69328600-69333000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:69328600-69339200	Weak transcription	Esophagus	oesophagus
29	chr3:69329000-69337400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:69329200-69329800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:69329200-69330000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:69329200-69331200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr3:69329200-69332600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:69329400-69337400	Weak transcription	Spleen	Spleen
35	chr3:69329600-69329800	Enhancers	Brain Substantia Nigra	brain
36	chr3:69329600-69331000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:69329600-69331800	Strong transcription	Dnd41	blood

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