Variant report

Variant	rs4682894
Chromosome Location	chr3:43633591-43633592
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1038202	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10440111	0.87[AFR][1000 genomes]
rs12374079	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17030517	0.84[EUR][1000 genomes]
rs17408925	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2054553	0.88[EUR][1000 genomes]
rs2054554	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2127725	0.86[EUR][1000 genomes]
rs34279519	0.82[EUR][1000 genomes]
rs3772165	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3821381	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3902207	0.86[EUR][1000 genomes]
rs4682690	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4682897	0.87[AFR][1000 genomes]
rs6441786	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6763321	0.87[EUR][1000 genomes]
rs7616708	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7621271	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9311341	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9851894	0.86[EUR][1000 genomes]
rs9878330	0.83[AMR][1000 genomes];0.88[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	nsv428738	chr3:43491435-43651168	Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv834673	chr3:43622985-43799876	Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4682894	ANO10	cis	Whole Blood	GTEx

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43574800-43662400	Weak transcription	Right Ventricle	heart
2	chr3:43580600-43647600	Weak transcription	Brain Angular Gyrus	brain
3	chr3:43587000-43647200	Weak transcription	Fetal Kidney	kidney
4	chr3:43587800-43634000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:43589000-43648400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:43590600-43636400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr3:43614600-43653800	Weak transcription	HepG2	liver
8	chr3:43618400-43639400	Weak transcription	Liver	Liver
9	chr3:43618600-43644000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr3:43618600-43649600	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:43618600-43654400	Weak transcription	Colonic Mucosa	Colon
12	chr3:43618600-43662400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:43622200-43648400	Weak transcription	HMEC	breast
14	chr3:43623600-43644400	Weak transcription	NHEK	skin
15	chr3:43624000-43657600	Weak transcription	Psoas Muscle	Psoas
16	chr3:43625800-43639400	Weak transcription	NHDF-Ad	bronchial
17	chr3:43625800-43662600	Weak transcription	Primary T cells from cord blood	blood
18	chr3:43626000-43643200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr3:43626200-43652400	Weak transcription	Osteobl	bone
20	chr3:43626400-43640200	Weak transcription	A549	lung
21	chr3:43627400-43646200	Weak transcription	HUVEC	blood vessel
22	chr3:43629400-43639400	Weak transcription	K562	blood
23	chr3:43630200-43642200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr3:43631200-43634400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:43631200-43646000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr3:43631400-43634600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr3:43631800-43634200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr3:43632000-43634000	Strong transcription	Stomach Smooth Muscle	stomach
29	chr3:43632000-43634600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr3:43632000-43634600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:43632400-43634000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
32	chr3:43632400-43634000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:43632400-43634000	ZNF genes & repeats	Aorta	Aorta
34	chr3:43632400-43634000	ZNF genes & repeats	Lung	lung
35	chr3:43632400-43634000	Strong transcription	Ovary	ovary
36	chr3:43632400-43634400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr3:43632600-43633600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:43632600-43634000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:43632600-43634000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:43632600-43634000	ZNF genes & repeats	Fetal Intestine Large	intestine
41	chr3:43632600-43634000	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr3:43632600-43634200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
43	chr3:43632600-43634200	ZNF genes & repeats	Fetal Stomach	stomach
44	chr3:43632600-43634400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:43632600-43634400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
46	chr3:43632600-43634400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr3:43632600-43634400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:43632600-43634400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:43632600-43634600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr3:43632600-43634600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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