Variant report

Variant	rs6718023
Chromosome Location	chr2:56145814-56145815
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:56068913..56070987-chr2:56145608..56147872,2	MCF-7	breast:
2	chr2:56145609..56148482-chr2:56152005..56153536,2	MCF-7	breast:
3	chr2:56143080..56147077-chr2:56148041..56151714,4	MCF-7	breast:
4	chr2:56145656..56147640-chr2:56149071..56151240,2	K562	blood:

Variant related genes	Relation type
ENSG00000115380	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10167115	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10201208	0.85[EUR][1000 genomes]
rs10469935	1.00[GIH][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10518794	0.92[GIH][hapmap];0.83[TSI][hapmap]
rs13429887	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs14282	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28370328	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28371015	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55886642	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56210563	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56268747	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6707184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6736923	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6737397	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6748550	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72811703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72811704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72811714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72811719	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7562440	0.93[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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56129200-56150200	Weak transcription	Pancreas	Pancrea
2	chr2:56132000-56149000	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:56135200-56146600	Weak transcription	Brain Anterior Caudate	brain
4	chr2:56137400-56149400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:56138800-56146400	Weak transcription	A549	lung
6	chr2:56138800-56149600	Transcr. at gene 5' and 3'	HUVEC	blood vessel
7	chr2:56141800-56146200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:56142200-56149800	Weak transcription	Gastric	stomach
9	chr2:56142400-56149400	Weak transcription	Right Ventricle	heart
10	chr2:56142600-56149200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:56142800-56146000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:56143400-56149000	Weak transcription	Fetal Kidney	kidney
13	chr2:56143600-56147200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:56143600-56147600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:56143600-56148000	Strong transcription	HMEC	breast
16	chr2:56143800-56148600	Weak transcription	Right Atrium	heart
17	chr2:56143800-56150400	Weak transcription	Spleen	Spleen
18	chr2:56144000-56146200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:56144000-56149800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:56144200-56147000	Weak transcription	HSMM	muscle
21	chr2:56144200-56148400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:56144200-56149000	Weak transcription	Fetal Lung	lung
23	chr2:56144600-56147600	Enhancers	Placenta	Placenta
24	chr2:56144800-56149600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:56145000-56149000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:56145000-56149000	Weak transcription	Ovary	ovary
27	chr2:56145000-56149000	Weak transcription	HSMMtube	muscle
28	chr2:56145000-56149400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:56145000-56149400	Weak transcription	Fetal Stomach	stomach
30	chr2:56145200-56147400	Weak transcription	Aorta	Aorta
31	chr2:56145200-56149000	Weak transcription	NH-A	brain
32	chr2:56145200-56149400	Weak transcription	Lung	lung
33	chr2:56145400-56148800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:56145400-56149000	Weak transcription	NHLF	lung
35	chr2:56145600-56146000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:56145600-56147400	Genic enhancers	Osteobl	bone
37	chr2:56145800-56146000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:56145800-56146400	Enhancers	Adipose Nuclei	Adipose
39	chr2:56145800-56146600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:56145800-56147400	Genic enhancers	NHEK	skin

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