Variant report

Variant	rs58671277
Chromosome Location	chr18:8630919-8630920
allele	C/T
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	FOXA1	chr18:8630589-8630959	HepG2	liver:	n/a	n/a
2	TEAD4	chr18:8630523-8630964	HepG2	liver:	n/a	n/a
3	POLR2A	chr18:8630679-8630973	GM12878	blood:	n/a	n/a
4	EP300	chr18:8630455-8631001	HepG2	liver:	n/a	n/a
5	CEBPB	chr18:8630632-8630939	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
RAB12	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs524445	1.00[AMR][1000 genomes]
rs57306553	1.00[AMR][1000 genomes]
rs59809328	1.00[AMR][1000 genomes]
rs60485704	1.00[AMR][1000 genomes]
rs8096264	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv2200	chr18:8618182-8663130	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8610600-8634400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:8616600-8634600	Weak transcription	NH-A	brain
3	chr18:8621000-8631200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr18:8621600-8633400	Weak transcription	Fetal Brain Male	brain
5	chr18:8621800-8633000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr18:8623600-8640600	Strong transcription	Dnd41	blood
7	chr18:8624200-8631000	Weak transcription	Right Atrium	heart
8	chr18:8624200-8632000	Weak transcription	Right Ventricle	heart
9	chr18:8624200-8633400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr18:8624200-8633400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr18:8624200-8633600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr18:8624200-8638200	Weak transcription	Stomach Mucosa	stomach
13	chr18:8624200-8641200	Weak transcription	Small Intestine	intestine
14	chr18:8624600-8631000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr18:8624600-8640200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr18:8624600-8640400	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr18:8624600-8640800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:8624800-8641600	Strong transcription	GM12878-XiMat	blood
19	chr18:8625000-8640600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr18:8625000-8640800	Strong transcription	Primary B cells from peripheral blood	blood
21	chr18:8625000-8640800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr18:8625000-8641000	Strong transcription	Fetal Thymus	thymus
23	chr18:8625000-8641000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr18:8625000-8641600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr18:8625400-8634400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr18:8626000-8633600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr18:8626400-8632400	Weak transcription	Spleen	Spleen
28	chr18:8626400-8633400	Weak transcription	A549	lung
29	chr18:8626400-8633600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr18:8626600-8633400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr18:8626600-8633400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr18:8626800-8631400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr18:8626800-8633000	Weak transcription	Fetal Kidney	kidney
34	chr18:8626800-8633400	Weak transcription	Colonic Mucosa	Colon
35	chr18:8626800-8633600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr18:8627000-8631000	Weak transcription	K562	blood
37	chr18:8627000-8632600	Weak transcription	HSMM	muscle
38	chr18:8627000-8641600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr18:8627200-8633600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr18:8627200-8633600	Weak transcription	Pancreas	Pancrea
41	chr18:8627400-8632000	Weak transcription	Placenta	Placenta
42	chr18:8627400-8632400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr18:8627400-8633000	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr18:8627400-8633600	Weak transcription	Gastric	stomach
45	chr18:8627600-8632400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr18:8627600-8633400	Weak transcription	NHDF-Ad	bronchial
47	chr18:8627800-8632600	Weak transcription	NHEK	skin
48	chr18:8627800-8633400	Weak transcription	Fetal Heart	heart
49	chr18:8627800-8633600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr18:8628000-8632400	Weak transcription	Primary B cells from cord blood	blood

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