Variant report

Variant	rs56184319
Chromosome Location	chr2:86784379-86784380
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr2:86783146-86784406	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:86784330..86786780-chr2:86850004..86851539,2	MCF-7	breast:
2	chr2:86781078..86783095-chr2:86783388..86785638,2	MCF-7	breast:
3	chr2:86782900..86787446-chr2:86787850..86792854,12	K562	blood:

Variant related genes	Relation type
ENSG00000228363	TF binding region
ENSG00000228363	Chromatin interaction
ENSG00000239305	Chromatin interaction
ENSG00000115561	Chromatin interaction
ENSG00000249884	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11127039	0.83[EUR][1000 genomes]
rs11687775	0.85[EUR][1000 genomes]
rs11883727	0.85[EUR][1000 genomes]
rs11890049	0.89[EUR][1000 genomes]
rs11890173	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11894098	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11897930	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35476005	1.00[ASN][1000 genomes]
rs55647305	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6755535	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67847575	0.96[EUR][1000 genomes]
rs67897621	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930333	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72932325	0.85[EUR][1000 genomes]
rs7559738	0.85[EUR][1000 genomes]
rs7598175	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7600791	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86734000-86784800	Weak transcription	Osteobl	bone
2	chr2:86737400-86788400	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:86753800-86788400	Weak transcription	HSMM	muscle
4	chr2:86756000-86788400	Weak transcription	Brain Anterior Caudate	brain
5	chr2:86756600-86784800	Weak transcription	Left Ventricle	heart
6	chr2:86756600-86789200	Weak transcription	Aorta	Aorta
7	chr2:86761200-86788600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:86761200-86788800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:86768200-86785000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:86768800-86785200	Weak transcription	Stomach Mucosa	stomach
11	chr2:86769400-86785600	Weak transcription	Fetal Heart	heart
12	chr2:86771200-86788400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:86771400-86786200	Weak transcription	HSMMtube	muscle
14	chr2:86774200-86788200	Weak transcription	Adipose Nuclei	Adipose
15	chr2:86774400-86788800	Weak transcription	Fetal Lung	lung
16	chr2:86774600-86788200	Weak transcription	Hela-S3	cervix
17	chr2:86774800-86785200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:86775200-86784800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:86775200-86785200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:86775200-86788200	Weak transcription	K562	blood
21	chr2:86775200-86788800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:86776800-86788800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:86777000-86784600	Weak transcription	Right Ventricle	heart
24	chr2:86777000-86787800	Weak transcription	Ovary	ovary
25	chr2:86777000-86788000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:86777400-86789200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:86777400-86789600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:86777600-86784800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:86777600-86784800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:86777600-86785400	Weak transcription	Spleen	Spleen
31	chr2:86777600-86785600	Weak transcription	Gastric	stomach
32	chr2:86777600-86785800	Weak transcription	Pancreas	Pancrea
33	chr2:86777600-86786400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:86777600-86788000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:86777600-86788200	Weak transcription	Liver	Liver
36	chr2:86777600-86789200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:86777600-86789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:86777600-86789400	Weak transcription	Lung	lung
39	chr2:86777800-86787800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:86777800-86788400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:86777800-86789400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:86778200-86789000	Weak transcription	NHLF	lung
43	chr2:86779400-86786400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr2:86779400-86788800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:86779400-86789400	Weak transcription	Placenta	Placenta
46	chr2:86779800-86784600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr2:86780000-86788400	Weak transcription	HMEC	breast
48	chr2:86780200-86789000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:86780600-86787400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr2:86780600-86788600	Enhancers	Primary T helper cells fromperipheralblood	blood

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