Variant report

Variant	rs6719384
Chromosome Location	chr2:56110820-56110821
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56094233..56095750-chr2:56109550..56111256,2	K562	blood:
2	chr2:56109102..56111149-chr2:56116391..56119036,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11678312	0.80[EUR][1000 genomes]
rs11682872	0.96[EUR][1000 genomes]
rs11688992	0.92[EUR][1000 genomes]
rs11691041	0.93[EUR][1000 genomes]
rs11691472	0.96[EUR][1000 genomes]
rs11693381	0.92[EUR][1000 genomes]
rs1367229	0.80[EUR][1000 genomes]
rs17047302	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17369365	0.80[EUR][1000 genomes]
rs2163238	0.96[EUR][1000 genomes]
rs28789713	0.90[EUR][1000 genomes]
rs4671261	0.92[EUR][1000 genomes]
rs55916998	0.96[EUR][1000 genomes]
rs55987978	0.98[EUR][1000 genomes]
rs56102096	0.96[EUR][1000 genomes]
rs57233927	0.96[EUR][1000 genomes]
rs59504093	0.96[EUR][1000 genomes]
rs60693760	0.96[EUR][1000 genomes]
rs6705051	0.91[EUR][1000 genomes]
rs6735306	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72797607	0.80[EUR][1000 genomes]
rs72797613	0.80[EUR][1000 genomes]
rs72805666	0.80[EUR][1000 genomes]
rs72805668	0.80[EUR][1000 genomes]
rs72805673	0.92[EUR][1000 genomes]
rs72805674	0.92[EUR][1000 genomes]
rs72805675	0.92[EUR][1000 genomes]
rs72807714	0.96[EUR][1000 genomes]
rs72807727	0.96[EUR][1000 genomes]
rs72807728	0.96[EUR][1000 genomes]
rs72807744	0.96[EUR][1000 genomes]
rs7563085	0.96[EUR][1000 genomes]
rs7581441	0.96[EUR][1000 genomes]
rs7582381	0.81[AMR][1000 genomes];0.91[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:47 , 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	chr2:56094800-56116200	Weak transcription	Spleen	Spleen
6	chr2:56104600-56115000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:56105000-56112600	Weak transcription	HSMMtube	muscle
8	chr2:56107600-56114400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:56107800-56111400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr2:56107800-56116000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:56108200-56112800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:56108400-56114400	Weak transcription	Brain Substantia Nigra	brain
13	chr2:56108400-56115000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:56108400-56115200	Weak transcription	Fetal Kidney	kidney
15	chr2:56108400-56116000	Weak transcription	Lung	lung
16	chr2:56108600-56112800	Weak transcription	Placenta	Placenta
17	chr2:56108800-56111400	Weak transcription	Fetal Stomach	stomach
18	chr2:56108800-56111600	Weak transcription	Right Atrium	heart
19	chr2:56108800-56115000	Weak transcription	Gastric	stomach
20	chr2:56108800-56116200	Weak transcription	Brain Anterior Caudate	brain
21	chr2:56109400-56111200	Weak transcription	HSMM	muscle
22	chr2:56109600-56115000	Enhancers	Hela-S3	cervix
23	chr2:56109800-56114200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:56109800-56120000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:56110000-56111400	Enhancers	A549	lung
26	chr2:56110000-56111600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:56110000-56111600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:56110000-56111800	Enhancers	NHEK	skin
29	chr2:56110000-56112400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:56110000-56112600	Genic enhancers	Osteobl	bone
31	chr2:56110000-56113000	Enhancers	Ovary	ovary
32	chr2:56110000-56117200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:56110200-56111200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:56110200-56116600	Enhancers	NH-A	brain
35	chr2:56110400-56111000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:56110400-56113600	Enhancers	Adipose Nuclei	Adipose
37	chr2:56110400-56116600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:56110400-56116600	Enhancers	NHLF	lung
39	chr2:56110400-56116800	Enhancers	NHDF-Ad	bronchial
40	chr2:56110600-56111000	Enhancers	HMEC	breast
41	chr2:56110600-56111200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr2:56110600-56111200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:56110600-56112600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr2:56110600-56112600	Enhancers	Aorta	Aorta
45	chr2:56110600-56112800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:56110800-56111000	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr2:56110800-56111200	Enhancers	Fetal Lung	lung

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