Variant report

Variant	rs62514488
Chromosome Location	chr8:108508914-108508915
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	MYC	chr8:108508800-108509960	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr8:108507229-108510408	MCF10A-Er-Src	breast:	n/a	n/a
3	MAX	chr8:108508644-108508982	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:108507981..108510207-chr8:108513209..108515922,2	K562	blood:

Variant related genes	Relation type
ANGPT1	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11775510	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776085	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778162	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1368497	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1433169	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1433171	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1529747	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1529748	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16876280	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16876323	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16876325	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16876337	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16876348	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445362	0.88[EUR][1000 genomes]
rs2959349	0.88[EUR][1000 genomes]
rs35394445	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4570130	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734971	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55721534	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59702603	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59876529	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60447751	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61269921	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61495202	0.91[EUR][1000 genomes]
rs62513194	0.91[EUR][1000 genomes]
rs62513198	0.91[EUR][1000 genomes]
rs62513235	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62513237	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62513238	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62513239	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62513242	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62514470	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62514471	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62514472	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514473	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514474	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514476	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514477	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514478	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514480	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514481	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514482	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514485	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514486	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7463024	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv611861	chr8:108504907-108509116	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv611862	chr8:108504907-108513341	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv1845767	chr8:108504907-108515373	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1849422	chr8:108504907-108515373	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1825455	chr8:108504907-108518274	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv611866	chr8:108504961-108509116	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv611869	chr8:108505161-108509116	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108502800-108509200	Weak transcription	NHEK	skin
2	chr8:108505400-108509200	Enhancers	Dnd41	blood
3	chr8:108506600-108509000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:108506600-108509200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr8:108506600-108509800	Active TSS	Fetal Kidney	kidney
6	chr8:108506600-108510200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:108506800-108509000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr8:108506800-108510400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:108506800-108510600	Active TSS	Stomach Smooth Muscle	stomach
10	chr8:108507000-108509600	Active TSS	Brain Anterior Caudate	brain
11	chr8:108507000-108510000	Active TSS	Adipose Nuclei	Adipose
12	chr8:108507000-108510000	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr8:108507000-108510200	Active TSS	Ovary	ovary
14	chr8:108507000-108510200	Active TSS	Right Atrium	heart
15	chr8:108507200-108510000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:108507200-108510200	Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr8:108507200-108510200	Active TSS	Brain Hippocampus Middle	brain
18	chr8:108507200-108510200	Active TSS	Fetal Lung	lung
19	chr8:108507200-108510200	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr8:108507200-108510400	Active TSS	Aorta	Aorta
21	chr8:108507400-108510000	Active TSS	Brain Angular Gyrus	brain
22	chr8:108507400-108510200	Active TSS	Brain Cingulate Gyrus	brain
23	chr8:108507400-108510200	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr8:108507400-108510200	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr8:108507400-108510400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:108507400-108510400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:108507600-108509000	Flanking Active TSS	A549	lung
28	chr8:108507600-108509200	Enhancers	K562	blood
29	chr8:108507600-108510000	Active TSS	Psoas Muscle	Psoas
30	chr8:108507600-108510000	Active TSS	Osteobl	bone
31	chr8:108507600-108510200	Active TSS	Fetal Stomach	stomach
32	chr8:108507600-108510200	Active TSS	Right Ventricle	heart
33	chr8:108507600-108510200	Active TSS	NHLF	lung
34	chr8:108507600-108510400	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr8:108507600-108510400	Flanking Active TSS	HUVEC	blood vessel
36	chr8:108507800-108509000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:108507800-108510000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr8:108507800-108510200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:108507800-108510200	Active TSS	Brain Substantia Nigra	brain
40	chr8:108507800-108510200	Active TSS	NHDF-Ad	bronchial
41	chr8:108508200-108509000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr8:108508200-108509200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr8:108508200-108509200	Enhancers	Primary B cells from peripheral blood	blood
44	chr8:108508200-108509400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:108508200-108509600	Active TSS	Duodenum Mucosa	Duodenum
46	chr8:108508200-108509800	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr8:108508200-108509800	Active TSS	Muscle Satellite Cultured Cells	--
48	chr8:108508200-108509800	Active TSS	HSMMtube	muscle
49	chr8:108508200-108510000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:108508200-108510000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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