Variant report

Variant	rs9858494
Chromosome Location	chr3:43364513-43364514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:43359634..43362364-chr3:43362365..43365194,3	K562	blood:
2	chr3:43328576..43330209-chr3:43363736..43365348,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12485977	0.87[ASN][1000 genomes]
rs13095863	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1588026	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs34823561	0.85[AMR][1000 genomes]
rs6793392	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7621298	0.81[AFR][1000 genomes]
rs9817430	0.83[AMR][1000 genomes]

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	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

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43332800-43377000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:43340600-43365600	Weak transcription	Esophagus	oesophagus
3	chr3:43345000-43368200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:43345400-43367400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:43346000-43377000	Weak transcription	K562	blood
6	chr3:43346400-43367200	Weak transcription	Fetal Lung	lung
7	chr3:43348400-43378800	Weak transcription	Hela-S3	cervix
8	chr3:43350000-43367400	Weak transcription	Aorta	Aorta
9	chr3:43350400-43365800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:43351000-43375600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr3:43353000-43374000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:43353200-43367400	Weak transcription	Dnd41	blood
13	chr3:43353400-43375200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:43354400-43369600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:43355000-43364600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:43359200-43367000	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:43359400-43366400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr3:43359400-43366800	Weak transcription	Small Intestine	intestine
19	chr3:43359400-43367800	Weak transcription	Stomach Mucosa	stomach
20	chr3:43359400-43374000	Weak transcription	Placenta	Placenta
21	chr3:43359400-43376600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr3:43359600-43364600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:43359600-43366200	Weak transcription	Brain Substantia Nigra	brain
24	chr3:43359600-43367000	Weak transcription	Fetal Intestine Large	intestine
25	chr3:43359600-43367200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:43359600-43367200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr3:43359600-43367200	Weak transcription	Fetal Heart	heart
28	chr3:43359600-43367400	Weak transcription	Fetal Stomach	stomach
29	chr3:43359600-43367400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr3:43359600-43367800	Weak transcription	Brain Anterior Caudate	brain
31	chr3:43359600-43371800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:43359600-43372000	Weak transcription	NHLF	lung
33	chr3:43359600-43372200	Weak transcription	HSMM	muscle
34	chr3:43359600-43375400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:43359600-43376200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr3:43359800-43364800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:43359800-43365000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr3:43359800-43367200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr3:43359800-43367600	Weak transcription	HSMMtube	muscle
40	chr3:43359800-43368000	Weak transcription	Fetal Kidney	kidney
41	chr3:43359800-43368400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr3:43359800-43369800	Weak transcription	NHEK	skin
43	chr3:43360200-43365000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:43360200-43368600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:43360400-43364800	Strong transcription	HUVEC	blood vessel
46	chr3:43360400-43366600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr3:43360400-43375600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:43360400-43376200	Weak transcription	Brain Germinal Matrix	brain
49	chr3:43360600-43367200	Weak transcription	Psoas Muscle	Psoas
50	chr3:43361000-43364800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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