Variant report

Variant	rs62247992
Chromosome Location	chr3:43136696-43136697
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11707627	0.88[AMR][1000 genomes]
rs502399	0.87[EUR][1000 genomes]
rs62247988	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs834175	0.87[EUR][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	nsv460522	chr3:42967597-43175207	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv590149	chr3:42967597-43175207	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv834672	chr3:43132722-43306272	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43119800-43143800	Weak transcription	Fetal Heart	heart
2	chr3:43122400-43145800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr3:43122600-43145200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr3:43122800-43145600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:43123000-43144400	Weak transcription	Fetal Intestine Large	intestine
6	chr3:43123000-43146400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr3:43123000-43146600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr3:43123200-43140400	Weak transcription	Gastric	stomach
9	chr3:43123200-43144400	Weak transcription	Spleen	Spleen
10	chr3:43123200-43145000	Weak transcription	Adipose Nuclei	Adipose
11	chr3:43123400-43146400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:43123600-43143600	Weak transcription	Lung	lung
13	chr3:43123600-43146600	Weak transcription	Fetal Intestine Small	intestine
14	chr3:43124200-43145000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:43124400-43144200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr3:43124400-43146000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:43124400-43146600	Weak transcription	Aorta	Aorta
18	chr3:43124600-43138600	Weak transcription	Thymus	Thymus
19	chr3:43124600-43144800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr3:43124600-43146800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr3:43127000-43144400	Weak transcription	Dnd41	blood
22	chr3:43129000-43139600	Weak transcription	Liver	Liver
23	chr3:43129200-43144000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr3:43131600-43145600	Weak transcription	Primary T cells from cord blood	blood
25	chr3:43132600-43146000	Weak transcription	Fetal Lung	lung
26	chr3:43132800-43144000	Weak transcription	Stomach Mucosa	stomach
27	chr3:43134400-43137000	Enhancers	Brain Hippocampus Middle	brain
28	chr3:43134600-43136800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr3:43134600-43137000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:43134600-43137000	Enhancers	Brain Cingulate Gyrus	brain
31	chr3:43134600-43137000	Enhancers	Right Atrium	heart
32	chr3:43134600-43137400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:43134600-43137800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr3:43134600-43139600	Enhancers	Fetal Muscle Leg	muscle
35	chr3:43134800-43136800	Enhancers	Stomach Smooth Muscle	stomach
36	chr3:43134800-43137000	Enhancers	Brain Anterior Caudate	brain
37	chr3:43134800-43137600	Enhancers	Brain Substantia Nigra	brain
38	chr3:43135000-43136800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr3:43135000-43137400	Enhancers	Psoas Muscle	Psoas
40	chr3:43135000-43145600	Weak transcription	HepG2	liver
41	chr3:43135200-43137000	Enhancers	Brain Angular Gyrus	brain
42	chr3:43135200-43137800	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr3:43135400-43136800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr3:43135600-43136800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:43135600-43136800	Enhancers	Ovary	ovary
46	chr3:43135600-43139600	Enhancers	Fetal Muscle Trunk	muscle
47	chr3:43135800-43137000	Enhancers	Left Ventricle	heart
48	chr3:43136000-43136800	Enhancers	Esophagus	oesophagus
49	chr3:43136000-43137000	Enhancers	Right Ventricle	heart
50	chr3:43136000-43137200	Enhancers	Pancreas	Pancrea

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