Variant report

Variant	rs3748959
Chromosome Location	chr2:56108882-56108883
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56104196..56106215-chr2:56107692..56109450,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11680866	0.93[EUR][1000 genomes]
rs17047287	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17047290	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3791677	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55778215	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55784446	0.93[EUR][1000 genomes]
rs55867135	0.82[AMR][1000 genomes]
rs56122343	0.82[AMR][1000 genomes]
rs56243516	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6722453	0.90[EUR][1000 genomes]
rs7573078	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7573238	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7589466	0.85[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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56089200-56112200	Weak transcription	Pancreas	Pancrea
2	chr2:56092400-56111600	Genic enhancers	HUVEC	blood vessel
3	chr2:56092800-56112400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:56092800-56114400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:56093800-56109000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:56094800-56116200	Weak transcription	Spleen	Spleen
7	chr2:56095600-56109600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:56103400-56110000	Weak transcription	A549	lung
9	chr2:56103800-56109400	Strong transcription	HSMM	muscle
10	chr2:56104600-56115000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:56104800-56109000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:56104800-56109000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:56105000-56110400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:56105000-56112600	Weak transcription	HSMMtube	muscle
15	chr2:56105800-56109200	Strong transcription	NHEK	skin
16	chr2:56106400-56109000	Strong transcription	HMEC	breast
17	chr2:56107000-56109000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:56107000-56109000	Genic enhancers	Osteobl	bone
19	chr2:56107600-56114400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:56107800-56110800	Weak transcription	Fetal Lung	lung
21	chr2:56107800-56111400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr2:56107800-56116000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:56108200-56109200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:56108200-56110400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:56108200-56110600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr2:56108200-56112800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:56108400-56109600	Weak transcription	Hela-S3	cervix
28	chr2:56108400-56110000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:56108400-56110000	Weak transcription	Ovary	ovary
30	chr2:56108400-56110400	Weak transcription	Adipose Nuclei	Adipose
31	chr2:56108400-56110400	Weak transcription	NHDF-Ad	bronchial
32	chr2:56108400-56110400	Weak transcription	NHLF	lung
33	chr2:56108400-56110600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:56108400-56110600	Weak transcription	Aorta	Aorta
35	chr2:56108400-56114400	Weak transcription	Brain Substantia Nigra	brain
36	chr2:56108400-56115000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:56108400-56115200	Weak transcription	Fetal Kidney	kidney
38	chr2:56108400-56116000	Weak transcription	Lung	lung
39	chr2:56108600-56109800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:56108600-56112800	Weak transcription	Placenta	Placenta
41	chr2:56108800-56110000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:56108800-56110200	Weak transcription	NH-A	brain
43	chr2:56108800-56111400	Weak transcription	Fetal Stomach	stomach
44	chr2:56108800-56111600	Weak transcription	Right Atrium	heart
45	chr2:56108800-56115000	Weak transcription	Gastric	stomach
46	chr2:56108800-56116200	Weak transcription	Brain Anterior Caudate	brain

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