Variant report

Variant	rs11900495
Chromosome Location	chr2:39748536-39748537
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12475209	1.00[ASN][1000 genomes]
rs12476783	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476899	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13420542	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1526025	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17466784	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17473802	0.94[AFR][1000 genomes]
rs35368235	1.00[ASN][1000 genomes]
rs72803106	0.85[EUR][1000 genomes]
rs7594967	0.84[AFR][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	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39712400-39748600	Weak transcription	Aorta	Aorta
2	chr2:39724800-39750600	Weak transcription	Gastric	stomach
3	chr2:39741600-39748600	Weak transcription	NHDF-Ad	bronchial
4	chr2:39743000-39750200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:39744000-39748600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:39744200-39748600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:39744200-39748600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:39744200-39753200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:39744400-39748800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:39744600-39748600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:39744600-39748600	Weak transcription	NHLF	lung
12	chr2:39744800-39748600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:39744800-39748600	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:39744800-39748800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:39744800-39748800	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:39744800-39749800	Weak transcription	Osteobl	bone
17	chr2:39744800-39751200	Weak transcription	Right Ventricle	heart
18	chr2:39745000-39748600	Weak transcription	Adipose Nuclei	Adipose
19	chr2:39745000-39748600	Weak transcription	Liver	Liver
20	chr2:39745000-39748600	Weak transcription	Left Ventricle	heart
21	chr2:39745000-39749000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:39745000-39749600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:39745000-39749800	Weak transcription	Right Atrium	heart
24	chr2:39745000-39749800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:39745000-39751000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:39745000-39752000	Weak transcription	Brain Angular Gyrus	brain
27	chr2:39745200-39748800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:39745200-39750200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:39745600-39748600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:39746000-39750200	Weak transcription	Fetal Heart	heart
31	chr2:39746200-39748600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:39747400-39749800	ZNF genes & repeats	HepG2	liver
33	chr2:39747800-39749400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
34	chr2:39747800-39751200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
35	chr2:39748000-39749200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
36	chr2:39748000-39749200	ZNF genes & repeats	Fetal Intestine Large	intestine
37	chr2:39748000-39749400	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr2:39748000-39750600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
39	chr2:39748200-39748800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
40	chr2:39748200-39749000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:39748200-39749400	ZNF genes & repeats	Placenta	Placenta
42	chr2:39748400-39749000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:39748400-39749200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:39748400-39749200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:39748400-39749200	ZNF genes & repeats	Fetal Stomach	stomach
46	chr2:39748400-39749200	ZNF genes & repeats	HSMMtube	muscle
47	chr2:39748400-39749400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:39748400-39749400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:39748400-39749800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:39748400-39753600	Enhancers	Psoas Muscle	Psoas

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