Variant report

Variant	rs56085927
Chromosome Location	chr2:85972684-85972685
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85971555..85973633-chr2:85979812..85981943,2	K562	blood:
2	chr2:85970891..85973881-chr2:85976191..85979014,2	K562	blood:
3	chr2:85972115..85974946-chr2:85980100..85981660,2	MCF-7	breast:
4	chr2:85971643..85974209-chr2:85976098..85978084,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168874	Chromatin interaction

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

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

rs_ID	r²[population]
rs17026608	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17026610	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2009485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2366814	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2366815	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55678683	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59731035	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6743301	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6750921	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9677221	0.82[ASN][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	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1012593	chr2:85966323-85997189	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85965000-85973400	Enhancers	Fetal Muscle Leg	muscle
2	chr2:85968000-85974600	Enhancers	Left Ventricle	heart
3	chr2:85968200-85973200	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr2:85968200-85973800	Enhancers	Right Ventricle	heart
5	chr2:85968200-85974200	Enhancers	Right Atrium	heart
6	chr2:85968400-85973400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:85969200-85972800	Enhancers	Fetal Kidney	kidney
8	chr2:85969600-85972800	Enhancers	Liver	Liver
9	chr2:85969600-85973000	Enhancers	NH-A	brain
10	chr2:85969600-85973600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:85969600-85974200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:85969800-85972800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:85969800-85973000	Bivalent Enhancer	Fetal Intestine Large	intestine
14	chr2:85969800-85973800	Enhancers	Brain Angular Gyrus	brain
15	chr2:85969800-85973800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr2:85970200-85973400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:85970400-85973400	Enhancers	Rectal Smooth Muscle	rectum
18	chr2:85970400-85973400	Weak transcription	Thymus	Thymus
19	chr2:85970400-85974000	Enhancers	Fetal Lung	lung
20	chr2:85970400-85974000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:85971000-85973000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:85971000-85973000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr2:85971200-85974200	Enhancers	A549	lung
24	chr2:85971400-85972800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
25	chr2:85971400-85973200	Enhancers	Fetal Heart	heart
26	chr2:85971400-85973400	Weak transcription	Esophagus	oesophagus
27	chr2:85971600-85972800	Weak transcription	Aorta	Aorta
28	chr2:85971600-85972800	Weak transcription	Psoas Muscle	Psoas
29	chr2:85971600-85972800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr2:85971600-85973400	Weak transcription	Spleen	Spleen
31	chr2:85971600-85975400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:85971600-85977800	Weak transcription	Pancreas	Pancrea
33	chr2:85971800-85973000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:85971800-85973000	Enhancers	Brain Germinal Matrix	brain
35	chr2:85971800-85973000	Bivalent Enhancer	Fetal Thymus	thymus
36	chr2:85972000-85972800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:85972000-85972800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:85972000-85972800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:85972000-85972800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:85972000-85972800	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr2:85972000-85972800	Flanking Active TSS	HSMMtube	muscle
42	chr2:85972000-85973000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:85972000-85973000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:85972000-85973000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:85972000-85973000	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr2:85972000-85973000	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr2:85972000-85973000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr2:85972000-85973000	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr2:85972000-85973000	Flanking Active TSS	HSMM	muscle
50	chr2:85972000-85973000	Flanking Active TSS	Osteobl	bone

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