Variant report

Variant	rs62250883
Chromosome Location	chr3:43356978-43356979
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11926254	1.00[AFR][1000 genomes]
rs62250911	1.00[AFR][1000 genomes]
rs62250916	1.00[AFR][1000 genomes]
rs62250949	1.00[AFR][1000 genomes]
rs62250950	1.00[AFR][1000 genomes]
rs62250952	1.00[AFR][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	esv2752008	chr3:43285369-43360879	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1009102	chr3:43285369-43369712	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv876732	chr3:43326887-43360879	Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43330800-43359000	Weak transcription	Fetal Brain Male	brain
2	chr3:43331400-43358200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:43332400-43361600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:43332800-43377000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:43337400-43358200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:43340000-43358600	Weak transcription	Colonic Mucosa	Colon
7	chr3:43340200-43359000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr3:43340200-43361200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:43340400-43358200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:43340400-43358200	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:43340600-43358600	Weak transcription	Brain Angular Gyrus	brain
12	chr3:43340600-43358800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:43340600-43358800	Weak transcription	Colon Smooth Muscle	Colon
14	chr3:43340600-43359200	Weak transcription	Gastric	stomach
15	chr3:43340600-43365600	Weak transcription	Esophagus	oesophagus
16	chr3:43341000-43359000	Weak transcription	Spleen	Spleen
17	chr3:43342000-43359200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:43343800-43357200	Strong transcription	Fetal Thymus	thymus
19	chr3:43344200-43358200	Weak transcription	Psoas Muscle	Psoas
20	chr3:43344600-43359400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr3:43345000-43368200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr3:43345400-43358200	Weak transcription	Lung	lung
23	chr3:43345400-43359000	Weak transcription	Fetal Kidney	kidney
24	chr3:43345400-43367400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr3:43345600-43360200	Weak transcription	Brain Germinal Matrix	brain
26	chr3:43345600-43364400	Weak transcription	HMEC	breast
27	chr3:43346000-43358400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:43346000-43359000	Weak transcription	NHLF	lung
29	chr3:43346000-43359200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:43346000-43359200	Weak transcription	Ovary	ovary
31	chr3:43346000-43377000	Weak transcription	K562	blood
32	chr3:43346400-43357600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr3:43346400-43357800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr3:43346400-43357800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr3:43346400-43358000	Weak transcription	NHEK	skin
36	chr3:43346400-43358400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:43346400-43359000	Weak transcription	Fetal Heart	heart
38	chr3:43346400-43367200	Weak transcription	Fetal Lung	lung
39	chr3:43346800-43358400	Weak transcription	Osteobl	bone
40	chr3:43347600-43358400	Weak transcription	NHDF-Ad	bronchial
41	chr3:43348400-43378800	Weak transcription	Hela-S3	cervix
42	chr3:43349400-43358000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr3:43349600-43363200	Weak transcription	GM12878-XiMat	blood
44	chr3:43350000-43359000	Weak transcription	Brain Anterior Caudate	brain
45	chr3:43350000-43367400	Weak transcription	Aorta	Aorta
46	chr3:43350200-43358200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:43350400-43359000	Weak transcription	Brain Substantia Nigra	brain
48	chr3:43350400-43361000	Weak transcription	Fetal Brain Female	brain
49	chr3:43350400-43365800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr3:43350600-43359600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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