Variant report

Variant	rs73684515
Chromosome Location	chr8:63999020-63999021
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr8:63998121-63999294	ECC-1	luminal epithelium:	n/a	chr8:63998228-63998237
2	MAX	chr8:63998900-63999216	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr8:63998315-63999259	A549	lung:	n/a	n/a
4	SIN3A	chr8:63998090-63999166	H1-hESC	embryonic stem cell:	n/a	chr8:63998665-63998678
5	POLR2A	chr8:63998997-63999101	ProgFib	skin:	n/a	n/a
6	MAX	chr8:63998358-63999259	A549	lung:	n/a	n/a
7	CTBP2	chr8:63998443-63999051	H1-hESC	embryonic stem cell:	n/a	n/a
8	HA-E2F1	chr8:63997886-63999102	MCF-7	breast:	n/a	chr8:63998582-63998592 chr8:63998624-63998638 chr8:63998581-63998590
9	FOS	chr8:63998928-63999124	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr8:63997488-63999101	HepG2	liver:	n/a	n/a
11	TBP	chr8:63998253-63999043	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr8:63998448-63999256	ECC-1	luminal epithelium:	n/a	n/a
13	FOS	chr8:63998988-63999198	MCF10A-Er-Src	breast:	n/a	n/a
14	MAX	chr8:63998719-63999141	H1-hESC	embryonic stem cell:	n/a	n/a
15	MYC	chr8:63998567-63999061	MCF10A-Er-Src	breast:	n/a	n/a
16	MAX	chr8:63998349-63999050	HCT-116	colon:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:63999003-63999053	AG10803	skin:	n/a
2	chr8:63999003-63999053	HCF	heart:	n/a
3	chr8:63999003-63999053	MCF-7	breast:	n/a
4	chr8:63999003-63999053	HL-60	blood:	n/a
5	chr8:63999003-63999053	Caco-2	colon:	n/a
6	chr8:63999003-63999053	RPTEC	kidney:	n/a
7	chr8:63999003-63999053	GM12892	blood:	n/a
8	chr8:63999003-63999053	NHBE	bronchial:	n/a
9	chr8:63999003-63999053	AG09319	gingival:	n/a
10	chr8:63999003-63999053	GM19239	blood:	n/a
11	chr8:63999003-63999053	SKMC	muscle:	n/a
12	chr8:63999003-63999053	Hepatocyte	liver:	n/a
13	chr8:63999003-63999053	HEK293	kidney:	embryo
14	chr8:63999003-63999053	Hela-S3	cervix:	n/a
15	chr8:63999003-63999053	ECC-1	luminal epithelium:	n/a
16	chr8:63999003-63999053	PFSK-1	brain:	n/a
17	chr8:63999003-63999053	HIPEpiC	eye:	n/a
18	chr8:63999003-63999053	CMK	blood:	n/a
19	chr8:63999003-63999053	ProgFib	skin:	n/a
20	chr8:63999003-63999053	ovcar-3	ovarian:	n/a
21	chr8:63999003-63999053	AG09309	skin:	n/a
22	chr8:63999003-63999053	HMEC	breast:	n/a
23	chr8:63999003-63999053	HRE	kidney:	n/a
24	chr8:63999003-63999053	HNPCEpiC	eye:	n/a
25	chr8:63999003-63999053	PrEC	prostate:	n/a
26	chr8:63999003-63999053	HCT-116	colon:	n/a
27	chr8:63999003-63999053	HRCEpiC	kidney:	n/a
28	chr8:63999003-63999053	U87	brain:	n/a
29	chr8:63999003-63999053	GM12891	blood:	n/a
30	chr8:63999003-63999053	HAEpiC	amniotic membrane:	n/a
31	chr8:63999003-63999053	HCPEpiC	choroid plexus:	n/a
32	chr8:63999003-63999053	BE2_C	brain:	n/a
33	chr8:63999003-63999053	HepG2	liver:	n/a
34	chr8:63999003-63999053	AG04450	lung:	fetal
35	chr8:63999003-63999053	NH-A	brain:	n/a
36	chr8:63999003-63999053	HEEpiC	esophagus:	n/a
37	chr8:63999003-63999053	HPAEpiC	pulmonary alveolar:	n/a
38	chr8:63999003-63999053	A549	lung:	n/a
39	chr8:63999003-63999053	GM06990	blood:	n/a
40	chr8:63999003-63999053	SK-N-MC	brain:	n/a
41	chr8:63999003-63999053	NT2-D1	testis:	n/a
42	chr8:63999003-63999053	SK-N-SH	brain:	n/a
43	chr8:63999003-63999053	AG04449	skin:	fetal
44	chr8:63999003-63999053	NB4	blood:	n/a
45	chr8:63999003-63999053	K562	blood:	n/a
46	chr8:63999003-63999053	IMR90	lung:	fetal
47	chr8:63999003-63999053	AoSMC	blood vessel:	n/a
48	chr8:63999003-63999053	T-47D	breast:	n/a
49	chr8:63999003-63999053	HUVEC	blood vessel:	n/a
50	chr8:63999003-63999053	PANC-1	pancreas:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:63949699..63952423-chr8:63997523..63999992,2	K562	blood:

No data

Variant related genes	Relation type
TTPA	TF binding region
TTPA	CpG island
ENSG00000137563	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16930012	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16930019	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16930036	0.83[AFR][1000 genomes]
rs56118167	1.00[AFR][1000 genomes]
rs57274520	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58063484	0.92[AFR][1000 genomes]
rs59593940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60280139	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60386932	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61571631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683961	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683962	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683963	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683965	0.90[AFR][1000 genomes]
rs73684320	0.85[AFR][1000 genomes]
rs73684322	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73684325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73684326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73684329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73684565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv465701	chr8:63951237-64080486	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv611448	chr8:63951237-64080486	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv3373017	chr8:63989447-64014250	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3445521	chr8:63989447-64017270	Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3445164	chr8:63997798-63999646	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63997400-63999200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:63997400-63999200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:63997600-63999200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr8:63997600-63999200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr8:63997600-63999200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr8:63997600-63999200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
7	chr8:63997600-63999200	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr8:63997600-63999200	Active TSS	Rectal Smooth Muscle	rectum
9	chr8:63997600-64000000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr8:63997800-63999200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr8:63997800-63999200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr8:63997800-63999200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:63997800-63999200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:63997800-63999200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:63997800-63999200	Active TSS	Brain Angular Gyrus	brain
16	chr8:63997800-63999200	Active TSS	Colon Smooth Muscle	Colon
17	chr8:63997800-63999200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
18	chr8:63997800-63999200	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr8:63997800-63999200	Bivalent/Poised TSS	NHLF	lung
20	chr8:63997800-63999200	Bivalent/Poised TSS	Osteobl	bone
21	chr8:63997800-63999400	Active TSS	Aorta	Aorta
22	chr8:63997800-63999600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:63998000-63999200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:63998000-63999200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:63998000-63999200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:63998000-63999200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
27	chr8:63998000-63999200	Active TSS	Gastric	stomach
28	chr8:63998000-63999200	Active TSS	Psoas Muscle	Psoas
29	chr8:63998000-63999200	Active TSS	Right Ventricle	heart
30	chr8:63998000-63999200	Bivalent/Poised TSS	HSMM	muscle
31	chr8:63998000-63999200	Active TSS	HSMMtube	muscle
32	chr8:63998000-63999200	Active TSS	NHDF-Ad	bronchial
33	chr8:63998000-63999400	Active TSS	Right Atrium	heart
34	chr8:63998200-63999200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr8:63998200-63999200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:63998200-63999200	Active TSS	Brain Cingulate Gyrus	brain
37	chr8:63998200-63999200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
38	chr8:63998400-63999200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr8:63998400-63999200	Active TSS	Brain Germinal Matrix	brain
40	chr8:63998600-63999200	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr8:63998600-63999200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
42	chr8:63998800-63999200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:63998800-63999200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:63998800-63999200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:63998800-63999200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:63998800-63999200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr8:63998800-63999200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:63998800-63999200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:63998800-63999200	Flanking Active TSS	Liver	Liver
50	chr8:63998800-63999200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland

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