Variant report

Variant	rs3769219
Chromosome Location	chr2:173890753-173890754
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]
rs12614386	1.00[CHB][hapmap]
rs12618296	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes]
rs12621472	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes]
rs12621641	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes]
rs16861180	1.00[CHB][hapmap];0.87[AMR][1000 genomes]
rs16861185	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes]
rs16861187	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes]
rs16861206	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes]
rs2290376	1.00[CHB][hapmap];0.90[GIH][hapmap];0.86[MEX][hapmap]
rs3754750	0.86[JPT][hapmap]
rs3754751	0.86[JPT][hapmap]
rs3769218	0.83[AMR][1000 genomes]
rs3769220	1.00[JPT][hapmap]
rs3769221	1.00[CHB][hapmap]
rs3769222	0.86[JPT][hapmap]
rs3769223	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs3769224	0.84[EUR][1000 genomes]
rs4296399	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes]
rs6735942	1.00[CHB][hapmap]

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	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173856200-173892600	Weak transcription	Brain Angular Gyrus	brain
2	chr2:173868000-173902000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:173868600-173892200	Weak transcription	Fetal Intestine Large	intestine
4	chr2:173877200-173901600	Weak transcription	Gastric	stomach
5	chr2:173880800-173891600	Strong transcription	Liver	Liver
6	chr2:173881200-173892400	Weak transcription	Fetal Intestine Small	intestine
7	chr2:173881200-173912800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:173881400-173897200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:173883000-173892200	Weak transcription	Right Atrium	heart
10	chr2:173884800-173893000	Weak transcription	Right Ventricle	heart
11	chr2:173885400-173890800	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:173885400-173892000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:173885400-173892600	Weak transcription	Brain Anterior Caudate	brain
14	chr2:173887000-173891400	Weak transcription	Fetal Lung	lung
15	chr2:173887200-173891800	Weak transcription	A549	lung
16	chr2:173887200-173892200	Weak transcription	Adipose Nuclei	Adipose
17	chr2:173887200-173892400	Weak transcription	Hela-S3	cervix
18	chr2:173887200-173892600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:173887200-173893000	Weak transcription	Psoas Muscle	Psoas
20	chr2:173887400-173891400	Weak transcription	Fetal Heart	heart
21	chr2:173887400-173892000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:173887400-173894800	Weak transcription	Left Ventricle	heart
23	chr2:173888000-173892600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:173888400-173892000	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:173888600-173892200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:173888600-173892600	Weak transcription	Ovary	ovary
27	chr2:173888800-173892000	Weak transcription	Fetal Stomach	stomach
28	chr2:173888800-173905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:173888800-173906600	Weak transcription	Lung	lung
30	chr2:173890000-173892000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:173890000-173892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:173890600-173891600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr2:173890600-173892000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr2:173890600-173894000	Enhancers	NHDF-Ad	bronchial

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