Variant report

Variant	rs2366815
Chromosome Location	chr2:85976991-85976992
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85976745..85979342-chr2:85979775..85983018,3	K562	blood:
2	chr2:85976940..85977835-chr2:85988194..85989005,2	K562	blood:
3	chr2:85968047..85970017-chr2:85974638..85977440,3	MCF-7	breast:
4	chr2:85971643..85974209-chr2:85976098..85978084,3	MCF-7	breast:
5	chr2:85974895..85977251-chr2:85979669..85982640,2	MCF-7	breast:
6	chr2:85976672..85979342-chr2:85979775..85983871,4	K562	blood:

Variant related genes	Relation type
ENSG00000168874	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17026608	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17026610	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2009485	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2366814	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55678683	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56085927	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59731035	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6743301	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6750921	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85971600-85977800	Weak transcription	Pancreas	Pancrea
2	chr2:85972400-85978200	Enhancers	Primary B cells from peripheral blood	blood
3	chr2:85972800-85977800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:85973000-85977800	Weak transcription	Brain Germinal Matrix	brain
5	chr2:85973000-85979000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:85973400-85980200	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr2:85973800-85977800	Weak transcription	Esophagus	oesophagus
8	chr2:85974600-85977600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:85974800-85980400	Enhancers	Fetal Heart	heart
10	chr2:85975000-85978000	Enhancers	Adipose Nuclei	Adipose
11	chr2:85975200-85977000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr2:85975200-85977200	Enhancers	Psoas Muscle	Psoas
13	chr2:85975200-85977200	Enhancers	Right Ventricle	heart
14	chr2:85975200-85979400	Enhancers	Fetal Lung	lung
15	chr2:85975400-85977000	Bivalent Enhancer	Fetal Stomach	stomach
16	chr2:85975400-85977000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr2:85975400-85977200	Enhancers	Left Ventricle	heart
18	chr2:85975400-85977200	Enhancers	Lung	lung
19	chr2:85975600-85977200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr2:85975600-85979800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:85975600-85980000	Enhancers	Brain Substantia Nigra	brain
22	chr2:85975800-85977000	Enhancers	Aorta	Aorta
23	chr2:85975800-85977000	Enhancers	Rectal Smooth Muscle	rectum
24	chr2:85975800-85977200	Enhancers	NHDF-Ad	bronchial
25	chr2:85975800-85978800	Enhancers	Hela-S3	cervix
26	chr2:85975800-85979600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:85975800-85980000	Enhancers	HSMM	muscle
28	chr2:85975800-85980400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:85976000-85977000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:85976000-85978600	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr2:85976000-85978800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:85976000-85979600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr2:85976000-85979800	Enhancers	Brain Hippocampus Middle	brain
34	chr2:85976000-85979800	Enhancers	A549	lung
35	chr2:85976200-85977600	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr2:85976600-85977600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:85976600-85977800	Weak transcription	Liver	Liver
38	chr2:85976600-85977800	Weak transcription	Brain Angular Gyrus	brain
39	chr2:85976600-85977800	Weak transcription	Spleen	Spleen
40	chr2:85976600-85979000	Enhancers	HSMMtube	muscle
41	chr2:85976600-85980200	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr2:85976800-85977000	Enhancers	Gastric	stomach
43	chr2:85976800-85977200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:85976800-85977200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:85976800-85977600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:85976800-85977600	Weak transcription	Osteobl	bone
47	chr2:85976800-85977800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:85976800-85977800	Weak transcription	Primary B cells from cord blood	blood
49	chr2:85976800-85977800	Weak transcription	Ovary	ovary
50	chr2:85976800-85977800	Weak transcription	Right Atrium	heart

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