Variant report

Variant	rs2454047
Chromosome Location	chr8:104061954-104061955
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:104061913-104062053	ProgFib	skin:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:104047360..104049742-chr8:104060811..104063093,2	MCF-7	breast:
2	chr8:104061126..104062771-chr8:104073695..104076306,2	MCF-7	breast:
3	chr8:103873846..103876788-chr8:104058991..104062713,4	MCF-7	breast:
4	chr8:103873603..103877584-chr8:104060030..104063017,4	K562	blood:
5	chr8:104032543..104034903-chr8:104061737..104063983,2	MCF-7	breast:
6	chr8:104059291..104063011-chr8:104063018..104066980,5	K562	blood:

No data

Variant related genes	Relation type
ATP6V1C1	TF binding region
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000254236	Chromatin interaction
ENSG00000155097	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1159227	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1398272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473820	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512353	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1512354	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2017133	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2047374	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2132861	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132862	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132864	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132865	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132866	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2388374	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453992	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453993	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2454041	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2454042	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2454048	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458273	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458274	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458275	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458282	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458292	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458294	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2515193	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2515196	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515202	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515204	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2935587	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3019160	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3019164	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3019165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs924211	0.96[EUR][1000 genomes];0.94[ASN][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104034200-104068800	Weak transcription	Small Intestine	intestine
2	chr8:104034400-104069400	Weak transcription	Esophagus	oesophagus
3	chr8:104034600-104063600	Weak transcription	HSMMtube	muscle
4	chr8:104034600-104068400	Weak transcription	Right Ventricle	heart
5	chr8:104034800-104065600	Weak transcription	Fetal Kidney	kidney
6	chr8:104034800-104074600	Weak transcription	NHEK	skin
7	chr8:104035400-104071200	Weak transcription	Brain Angular Gyrus	brain
8	chr8:104036200-104065200	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:104037200-104063400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:104037200-104071400	Weak transcription	Fetal Brain Female	brain
11	chr8:104038000-104066800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:104039000-104069400	Weak transcription	Spleen	Spleen
13	chr8:104040200-104071400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:104040600-104071400	Weak transcription	Pancreas	Pancrea
15	chr8:104043800-104068200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:104044000-104066400	Weak transcription	HMEC	breast
17	chr8:104046000-104068000	Weak transcription	NHLF	lung
18	chr8:104048400-104063800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:104050400-104069200	Weak transcription	Aorta	Aorta
20	chr8:104050400-104086000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr8:104050600-104066600	Weak transcription	Ovary	ovary
22	chr8:104050600-104089600	Weak transcription	Psoas Muscle	Psoas
23	chr8:104050800-104062400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:104050800-104067800	Weak transcription	Brain Substantia Nigra	brain
25	chr8:104050800-104069800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:104051600-104087400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr8:104052600-104065400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:104052600-104066600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr8:104052800-104082200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr8:104053000-104066800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:104053000-104067000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr8:104053000-104068600	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:104053200-104064000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:104053200-104073000	Weak transcription	Colonic Mucosa	Colon
35	chr8:104053200-104085600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:104053600-104063400	Strong transcription	Liver	Liver
37	chr8:104053600-104083800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:104053800-104067600	Strong transcription	Primary B cells from cord blood	blood
39	chr8:104054000-104084400	Strong transcription	Fetal Thymus	thymus
40	chr8:104054200-104083400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:104054200-104083800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:104054200-104084400	Strong transcription	Primary B cells from peripheral blood	blood
43	chr8:104055000-104065000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr8:104055200-104087000	Weak transcription	K562	blood
45	chr8:104055400-104069800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr8:104056200-104077000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:104056800-104063800	Weak transcription	Fetal Lung	lung
48	chr8:104056800-104066200	Weak transcription	Fetal Brain Male	brain
49	chr8:104056800-104069400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:104057000-104084200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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