Variant report

Variant	rs10216781
Chromosome Location	chr8:108508624-108508625
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	POLR2A	chr8:108507229-108510408	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr8:108507286-108508871	MCF10A-Er-Src	breast:	n/a	chr8:108507470-108507482 chr8:108507470-108507481 chr8:108508255-108508266 chr8:108507472-108507480
3	MAFK	chr8:108508050-108508754	K562	blood:	n/a	chr8:108508258-108508267
4	MYC	chr8:108507149-108508883	NB4	blood:	n/a	chr8:108507661-108507668 chr8:108507188-108507197
5	RAD21	chr8:108507534-108508805	IMR90	lung:	n/a	chr8:108508755-108508767
6	SIN3A	chr8:108508609-108508870	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr8:108507438-108508839	A549	lung:	n/a	n/a
8	MYC	chr8:108508035-108508808	H1-hESC	embryonic stem cell:	n/a	n/a
9	STAT3	chr8:108508042-108508721	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr8:108508623-108508867	ProgFib	skin:	n/a	n/a
11	MAFK	chr8:108508035-108508760	H1-hESC	embryonic stem cell:	n/a	chr8:108508258-108508267
12	FOS	chr8:108507302-108508853	MCF10A-Er-Src	breast:	n/a	chr8:108507470-108507482 chr8:108507470-108507481 chr8:108508255-108508266 chr8:108507472-108507480
13	BACH1	chr8:108507381-108508744	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:108507981..108510207-chr8:108513209..108515922,2	K562	blood:
2	chr8:108080564..108081493-chr8:108508119..108508723,3	MCF-7	breast:

Variant related genes	Relation type
ANGPT1	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10099510	1.00[AMR][1000 genomes]
rs10102033	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10441491	1.00[AMR][1000 genomes]
rs10441492	1.00[AMR][1000 genomes]
rs16876344	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28477973	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28521936	1.00[AMR][1000 genomes]
rs28525390	1.00[AMR][1000 genomes]
rs7814715	1.00[AMR][1000 genomes]
rs7839020	1.00[AMR][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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108502800-108509200	Weak transcription	NHEK	skin
2	chr8:108505000-108508800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:108505400-108509200	Enhancers	Dnd41	blood
4	chr8:108506600-108509000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:108506600-108509200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:108506600-108509800	Active TSS	Fetal Kidney	kidney
7	chr8:108506600-108510200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:108506800-108509000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr8:108506800-108510400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:108506800-108510600	Active TSS	Stomach Smooth Muscle	stomach
11	chr8:108507000-108509600	Active TSS	Brain Anterior Caudate	brain
12	chr8:108507000-108510000	Active TSS	Adipose Nuclei	Adipose
13	chr8:108507000-108510000	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr8:108507000-108510200	Active TSS	Ovary	ovary
15	chr8:108507000-108510200	Active TSS	Right Atrium	heart
16	chr8:108507200-108508800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:108507200-108508800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr8:108507200-108510000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:108507200-108510200	Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr8:108507200-108510200	Active TSS	Brain Hippocampus Middle	brain
21	chr8:108507200-108510200	Active TSS	Fetal Lung	lung
22	chr8:108507200-108510200	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr8:108507200-108510400	Active TSS	Aorta	Aorta
24	chr8:108507400-108510000	Active TSS	Brain Angular Gyrus	brain
25	chr8:108507400-108510200	Active TSS	Brain Cingulate Gyrus	brain
26	chr8:108507400-108510200	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr8:108507400-108510200	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr8:108507400-108510400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:108507400-108510400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:108507600-108509000	Flanking Active TSS	A549	lung
31	chr8:108507600-108509200	Enhancers	K562	blood
32	chr8:108507600-108510000	Active TSS	Psoas Muscle	Psoas
33	chr8:108507600-108510000	Active TSS	Osteobl	bone
34	chr8:108507600-108510200	Active TSS	Fetal Stomach	stomach
35	chr8:108507600-108510200	Active TSS	Right Ventricle	heart
36	chr8:108507600-108510200	Active TSS	NHLF	lung
37	chr8:108507600-108510400	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr8:108507600-108510400	Flanking Active TSS	HUVEC	blood vessel
39	chr8:108507800-108508800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr8:108507800-108509000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:108507800-108510000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr8:108507800-108510200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:108507800-108510200	Active TSS	Brain Substantia Nigra	brain
44	chr8:108507800-108510200	Active TSS	NHDF-Ad	bronchial
45	chr8:108508200-108508800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:108508200-108509000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr8:108508200-108509200	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr8:108508200-108509200	Enhancers	Primary B cells from peripheral blood	blood
49	chr8:108508200-108509400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr8:108508200-108509600	Active TSS	Duodenum Mucosa	Duodenum

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