Variant report

Variant	rs11129986
Chromosome Location	chr3:42951808-42951809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1097111	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1104018	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1346413	0.86[EUR][1000 genomes]
rs1427799	0.90[EUR][1000 genomes]
rs1427801	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2650105	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28494652	0.81[EUR][1000 genomes]
rs530189	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6789928	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs704889	0.81[EUR][1000 genomes]
rs704890	0.81[EUR][1000 genomes]
rs704894	0.81[EUR][1000 genomes]
rs704896	0.81[EUR][1000 genomes]
rs704900	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7619740	0.85[EUR][1000 genomes]
rs7633062	0.85[EUR][1000 genomes]
rs834581	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs834695	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9311329	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][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	nsv3783	chr3:42926223-42970597	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42948400-42954600	Weak transcription	NH-A	brain
2	chr3:42948600-42952000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:42948600-42952200	Weak transcription	Psoas Muscle	Psoas
4	chr3:42948600-42952200	Weak transcription	Osteobl	bone
5	chr3:42948600-42954200	Weak transcription	Small Intestine	intestine
6	chr3:42948600-42955200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr3:42948600-42955600	Weak transcription	NHDF-Ad	bronchial
8	chr3:42948800-42952000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:42948800-42952000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:42948800-42952000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr3:42948800-42952200	Weak transcription	Gastric	stomach
12	chr3:42948800-42954600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr3:42948800-42954600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:42949000-42952000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr3:42949000-42952000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr3:42949000-42952400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:42949000-42954400	Weak transcription	Stomach Mucosa	stomach
18	chr3:42949000-42954600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:42949200-42952000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr3:42949200-42952000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:42949200-42952000	Weak transcription	Fetal Heart	heart
22	chr3:42949200-42955000	Weak transcription	Brain Substantia Nigra	brain
23	chr3:42949400-42953000	Strong transcription	Fetal Muscle Trunk	muscle
24	chr3:42949400-42953000	ZNF genes & repeats	Lung	lung
25	chr3:42949600-42952200	ZNF genes & repeats	Esophagus	oesophagus
26	chr3:42949600-42953400	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr3:42949600-42953400	Strong transcription	Stomach Smooth Muscle	stomach
28	chr3:42949600-42953600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:42949600-42954000	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr3:42949800-42952000	Strong transcription	Adipose Nuclei	Adipose
31	chr3:42949800-42952800	Weak transcription	Fetal Brain Male	brain
32	chr3:42949800-42953600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:42949800-42957000	ZNF genes & repeats	Ovary	ovary
34	chr3:42950000-42952200	Strong transcription	Aorta	Aorta
35	chr3:42950000-42953400	Strong transcription	Brain Hippocampus Middle	brain
36	chr3:42950000-42953600	ZNF genes & repeats	Fetal Brain Female	brain
37	chr3:42950000-42954000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:42950200-42952000	Strong transcription	Fetal Muscle Leg	muscle
39	chr3:42950400-42952000	Weak transcription	Brain Angular Gyrus	brain
40	chr3:42950400-42952000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr3:42950400-42954400	Weak transcription	Thymus	Thymus
42	chr3:42950600-42952000	ZNF genes & repeats	Fetal Stomach	stomach
43	chr3:42950800-42952200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr3:42950800-42953600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
45	chr3:42950800-42954400	Weak transcription	Colonic Mucosa	Colon
46	chr3:42951000-42952000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
47	chr3:42951000-42952000	ZNF genes & repeats	Fetal Intestine Large	intestine
48	chr3:42951000-42953200	ZNF genes & repeats	Spleen	Spleen
49	chr3:42951200-42953000	ZNF genes & repeats	Brain Germinal Matrix	brain
50	chr3:42951200-42953400	Strong transcription	Right Ventricle	heart

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