Variant report

Variant	rs2454042
Chromosome Location	chr8:104033505-104033506
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103873561..103877987-chr8:104030387..104035295,15	K562	blood:
2	chr8:103875552..103877856-chr8:104031071..104034645,4	K562	blood:
3	chr8:103874643..103878099-chr8:104031324..104040310,20	MCF-7	breast:
4	chr8:104031977..104033590-chr8:104309490..104311650,2	MCF-7	breast:
5	chr8:103665043..103667902-chr8:104032502..104034925,2	K562	blood:
6	chr8:103936608..103938218-chr8:104032062..104033919,2	MCF-7	breast:
7	chr8:103870045..103872985-chr8:104031865..104034556,2	MCF-7	breast:
8	chr8:104032543..104034903-chr8:104061737..104063983,2	MCF-7	breast:
9	chr8:103873594..103879966-chr8:104029090..104036191,28	MCF-7	breast:
10	chr8:104032077..104034821-chr8:104426211..104427812,2	MCF-7	breast:
11	chr17:62222917..62224705-chr8:104031776..104034703,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf56-3	chr8:104033415-104033656	ENSG00000254236.1

No data

Variant related genes	Relation type
ENSG00000155096	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000164934	Chromatin interaction
ENSG00000155097	Chromatin interaction
ENSG00000164933	Chromatin interaction
ENSG00000266402	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000247081	Chromatin interaction
ENSG00000164930	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1159227	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1398272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1473820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1512350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1512352	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1512353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16870120	1.00[CHB][hapmap]
rs16870122	1.00[CHB][hapmap]
rs16870125	1.00[CHB][hapmap]
rs2017133	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2047374	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132861	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2132862	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2132864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2132865	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2132866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2388374	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2453992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2453993	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2454041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2454047	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2454048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2458273	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2458274	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2458275	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2458282	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2458292	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2458294	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515196	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2515202	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2515204	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2935587	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019160	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019164	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3019165	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3133430	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs924211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104032200-104033800	Active TSS	Fetal Heart	heart
2	chr8:104032200-104034000	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr8:104032400-104034000	Active TSS	Brain Hippocampus Middle	brain
4	chr8:104032400-104034000	Active TSS	Rectal Smooth Muscle	rectum
5	chr8:104032600-104033600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr8:104032600-104033600	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr8:104032600-104033800	ZNF genes & repeats	Fetal Brain Male	brain
8	chr8:104032600-104034000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:104032600-104034000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:104032600-104034000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:104032600-104034000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:104032600-104034000	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr8:104032600-104034000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:104032600-104034000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:104032600-104034000	Active TSS	Aorta	Aorta
16	chr8:104032600-104034000	Active TSS	Brain Angular Gyrus	brain
17	chr8:104032600-104034000	Active TSS	Brain Cingulate Gyrus	brain
18	chr8:104032600-104034000	Active TSS	Brain Germinal Matrix	brain
19	chr8:104032600-104034000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr8:104032600-104034000	Active TSS	Duodenum Mucosa	Duodenum
21	chr8:104032600-104034000	Active TSS	Fetal Kidney	kidney
22	chr8:104032600-104034000	Active TSS	Right Ventricle	heart
23	chr8:104032600-104034000	Active TSS	Stomach Mucosa	stomach
24	chr8:104032600-104034000	Active TSS	Thymus	Thymus
25	chr8:104032600-104034000	Active TSS	HUVEC	blood vessel
26	chr8:104032600-104034000	Active TSS	K562	blood
27	chr8:104032600-104034000	Active TSS	NH-A	brain
28	chr8:104032600-104034200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:104032600-104034200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:104032600-104034200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:104032600-104034200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:104032600-104034200	Active TSS	Colonic Mucosa	Colon
33	chr8:104032600-104034200	Active TSS	Fetal Intestine Small	intestine
34	chr8:104032600-104034200	Active TSS	Left Ventricle	heart
35	chr8:104032600-104034200	Active TSS	HSMMtube	muscle
36	chr8:104032600-104034400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:104032600-104034400	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr8:104032600-104034400	Active TSS	Ovary	ovary
39	chr8:104032600-104034400	Active TSS	Psoas Muscle	Psoas
40	chr8:104032600-104034400	Active TSS	Right Atrium	heart
41	chr8:104032600-104034600	Active TSS	H9 Cell Line	embryonic stem cell
42	chr8:104032600-104034600	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr8:104032600-104034600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:104032600-104034600	Active TSS	Fetal Muscle Trunk	muscle
45	chr8:104032600-104034800	Active TSS	NHDF-Ad	bronchial
46	chr8:104032600-104035200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:104032800-104033600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
48	chr8:104032800-104034000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:104032800-104034000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:104032800-104034000	Active TSS	Breast Myoepithelial Primary Cells	Breast

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