Variant report

Variant	rs59684850
Chromosome Location	chr3:98462482-98462483
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1675530	1.00[AMR][1000 genomes]
rs1729991	1.00[AMR][1000 genomes]
rs57266345	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58255898	0.86[AFR][1000 genomes]
rs61228839	0.86[AFR][1000 genomes]
rs72930963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72930970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72930975	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72934618	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72934634	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936606	0.95[AFR][1000 genomes]
rs72936636	0.86[AFR][1000 genomes]
rs72936671	0.82[AFR][1000 genomes]
rs72936680	0.82[AFR][1000 genomes]
rs72938508	0.86[AFR][1000 genomes]
rs72938510	0.86[AFR][1000 genomes]
rs72938569	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3390386	chr3:98174549-98579953	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv470783	chr3:98431225-98466222	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv877214	chr3:98445324-98738006	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98453400-98463200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr3:98453400-98463400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:98453400-98468600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:98453400-98469400	Weak transcription	Aorta	Aorta
5	chr3:98453800-98464200	Weak transcription	Brain Hippocampus Middle	brain
6	chr3:98454000-98464600	Weak transcription	Fetal Brain Male	brain
7	chr3:98454200-98465800	Weak transcription	Fetal Kidney	kidney
8	chr3:98454400-98478000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:98454800-98464200	Weak transcription	Brain Angular Gyrus	brain
10	chr3:98455400-98463000	Weak transcription	Right Atrium	heart
11	chr3:98456000-98462800	Weak transcription	Right Ventricle	heart
12	chr3:98456600-98479600	Weak transcription	Dnd41	blood
13	chr3:98456800-98469800	Weak transcription	Thymus	Thymus
14	chr3:98457400-98463200	Weak transcription	Left Ventricle	heart
15	chr3:98457400-98467800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:98457800-98474400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr3:98458400-98462600	Weak transcription	GM12878-XiMat	blood
18	chr3:98458400-98474800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr3:98459000-98467200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:98459200-98462800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:98459400-98469400	Weak transcription	Pancreas	Pancrea
22	chr3:98460400-98463000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:98460600-98463000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:98460600-98463000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:98460600-98463200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:98460600-98467000	Weak transcription	Psoas Muscle	Psoas
27	chr3:98460600-98467800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:98461000-98462800	Weak transcription	Liver	Liver
29	chr3:98461000-98463000	Weak transcription	HMEC	breast
30	chr3:98461000-98463000	Weak transcription	NHEK	skin
31	chr3:98461200-98464200	Weak transcription	Fetal Heart	heart
32	chr3:98461400-98462800	Weak transcription	HepG2	liver
33	chr3:98461400-98464800	Weak transcription	HUVEC	blood vessel
34	chr3:98462000-98462800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr3:98462000-98463200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:98462000-98463400	Weak transcription	Fetal Muscle Leg	muscle
37	chr3:98462400-98464400	Enhancers	Placenta	Placenta

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