Variant report

Variant	rs573978017
Chromosome Location	chr8:117950275-117950276
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	chr8:117949985-117951195	H1-hESC	embryonic stem cell:	n/a	n/a
2	YY1	chr8:117950170-117950689	H1-hESC	embryonic stem cell:	n/a	chr8:117950395-117950404
3	POLR2A	chr8:117949982-117951070	U87	brain:	n/a	n/a
4	YY1	chr8:117949948-117951111	H1-hESC	embryonic stem cell:	n/a	chr8:117951002-117951013 chr8:117950395-117950404 chr8:117951001-117951010
5	E2F6	chr8:117950252-117951162	H1-hESC	embryonic stem cell:	n/a	chr8:117951001-117951010 chr8:117950787-117950802
6	POLR2A	chr8:117950252-117951064	U87	brain:	n/a	n/a
7	TBP	chr8:117950252-117951065	H1-hESC	embryonic stem cell:	n/a	n/a
8	HA-E2F1	chr8:117949690-117951208	MCF-7	breast:	n/a	chr8:117951001-117951010
9	MAX	chr8:117950157-117951137	MCF-7	breast:	n/a	chr8:117950999-117951009 chr8:117950397-117950407
10	MAX	chr8:117950232-117950983	H1-hESC	embryonic stem cell:	n/a	chr8:117950397-117950407
11	TAF1	chr8:117950067-117951118	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr8:117950149-117951068	H1-hESC	embryonic stem cell:	n/a	n/a
13	ZNF263	chr8:117949825-117951164	HEK293-T-REx	kidney:	n/a	chr8:117950282-117950291 chr8:117951043-117951052
14	NANOG	chr8:117950156-117950814	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr8:117950193-117950379	H1-hESC	embryonic stem cell:	n/a	n/a
16	EGR1	chr8:117950236-117951193	MCF-7	breast:	n/a	chr8:117950393-117950406 chr8:117950394-117950403 chr8:117950393-117950403 chr8:117950393-117950406 chr8:117951001-117951011 chr8:117950393-117950406 chr8:117950392-117950407 chr8:117950996-117951009 chr8:117950393-117950406 chr8:117950392-117950406 chr8:117951002-117951015 chr8:117950999-117951009
17	POLR2A	chr8:117950007-117950966	PFSK-1	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:117950244-117950294	CMK	blood:	n/a
2	chr8:117950244-117950294	SAEC	small airway:	n/a
3	chr8:117950244-117950294	HPAEpiC	pulmonary alveolar:	n/a
4	chr8:117950244-117950294	GM12878	blood:	n/a
5	chr8:117950244-117950294	T-47D	breast:	n/a
6	chr8:117950244-117950294	NHBE	bronchial:	n/a
7	chr8:117950244-117950294	HRPEpiC	eye:	n/a
8	chr8:117950244-117950294	HIPEpiC	eye:	n/a
9	chr8:117950244-117950294	NT2-D1	testis:	n/a
10	chr8:117950244-117950294	AG04450	lung:	fetal
11	chr8:117950244-117950294	GM12891	blood:	n/a
12	chr8:117950244-117950294	A549	lung:	n/a
13	chr8:117950244-117950294	AG10803	skin:	n/a
14	chr8:117950244-117950294	HRCEpiC	kidney:	n/a
15	chr8:117950244-117950294	HCF	heart:	n/a
16	chr8:117950244-117950294	NB4	blood:	n/a
17	chr8:117950244-117950294	GM19239	blood:	n/a
18	chr8:117950244-117950294	HEK293	kidney:	embryo
19	chr8:117950244-117950294	Caco-2	colon:	n/a
20	chr8:117950244-117950294	NH-A	brain:	n/a
21	chr8:117950244-117950294	HEEpiC	esophagus:	n/a
22	chr8:117950244-117950294	SK-N-SH	brain:	n/a
23	chr8:117950244-117950294	ECC-1	luminal epithelium:	n/a
24	chr8:117950244-117950294	PFSK-1	brain:	n/a
25	chr8:117950244-117950294	AoSMC	blood vessel:	n/a
26	chr8:117950244-117950294	MCF10A-Er-Src	breast:	n/a
27	chr8:117950244-117950294	MCF-7	breast:	n/a
28	chr8:117950244-117950294	NHDF-neo	bronchial:	n/a
29	chr8:117950244-117950294	IMR90	lung:	fetal
30	chr8:117950244-117950294	Hela-S3	cervix:	n/a
31	chr8:117950244-117950294	AG09309	skin:	n/a
32	chr8:117950244-117950294	H1-hESC	embryonic stem cell:	embryo
33	chr8:117950244-117950294	AG09319	gingival:	n/a
34	chr8:117950244-117950294	HL-60	blood:	n/a
35	chr8:117950244-117950294	HCPEpiC	choroid plexus:	n/a
36	chr8:117950244-117950294	ProgFib	skin:	n/a
37	chr8:117950244-117950294	ovcar-3	ovarian:	n/a
38	chr8:117950244-117950294	HRE	kidney:	n/a
39	chr8:117950244-117950294	K562	blood:	n/a
40	chr8:117950244-117950294	PANC-1	pancreas:	n/a
41	chr8:117950244-117950294	LNCaP	prostate:	n/a
42	chr8:117950244-117950294	Hepatocyte	liver:	n/a
43	chr8:117950244-117950294	HUVEC	blood vessel:	n/a
44	chr8:117950244-117950294	HAEpiC	amniotic membrane:	n/a
45	chr8:117950244-117950294	GM12892	blood:	n/a
46	chr8:117950244-117950294	U87	brain:	n/a
47	chr8:117950244-117950294	HCT-116	colon:	n/a
48	chr8:117950244-117950294	BJ	skin:	n/a
49	chr8:117950244-117950294	PrEC	prostate:	n/a
50	chr8:117950244-117950294	HepG2	liver:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAD21-1	chr8:117947899-117950697	NONHSAT128383

Variant related genes	Relation type
AARD	TF binding region
AARD	CpG island

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv891409	chr8:117948986-117972064	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117948000-117950600	Weak transcription	NHEK	skin
2	chr8:117949600-117951000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
3	chr8:117949600-117951200	Active TSS	Colon Smooth Muscle	Colon
4	chr8:117949800-117950600	Bivalent/Poised TSS	Fetal Lung	lung
5	chr8:117949800-117950800	Enhancers	Gastric	stomach
6	chr8:117949800-117951200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr8:117949800-117951200	Active TSS	Rectal Smooth Muscle	rectum
8	chr8:117949800-117951400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr8:117949800-117951400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr8:117949800-117951400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:117949800-117951400	Active TSS	Stomach Smooth Muscle	stomach
12	chr8:117950000-117950400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:117950000-117950400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:117950000-117950400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:117950000-117950400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:117950000-117950400	Active TSS	Fetal Muscle Trunk	muscle
17	chr8:117950000-117950400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
18	chr8:117950000-117950400	Enhancers	Pancreas	Pancrea
19	chr8:117950000-117950600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:117950000-117950800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:117950000-117951000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:117950000-117951000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
23	chr8:117950000-117951000	Active TSS	Muscle Satellite Cultured Cells	--
24	chr8:117950000-117951200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr8:117950000-117951200	Active TSS	H9 Cell Line	embryonic stem cell
26	chr8:117950000-117951200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:117950000-117951200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:117950000-117951200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:117950000-117951200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:117950000-117951200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
31	chr8:117950000-117951200	Active TSS	Fetal Kidney	kidney
32	chr8:117950000-117951200	Active TSS	HMEC	breast
33	chr8:117950000-117951200	Active TSS	NH-A	brain
34	chr8:117950000-117951400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:117950000-117951400	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr8:117950000-117951400	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr8:117950000-117952000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:117950200-117950400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:117950200-117950400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:117950200-117950400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:117950200-117950400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
42	chr8:117950200-117950400	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr8:117950200-117950400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr8:117950200-117950400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
45	chr8:117950200-117950400	Active TSS	Ovary	ovary
46	chr8:117950200-117950400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
47	chr8:117950200-117950400	Active TSS	Right Atrium	heart
48	chr8:117950200-117950400	Flanking Bivalent TSS/Enh	Thymus	Thymus
49	chr8:117950200-117950600	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
50	chr8:117950200-117950600	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--

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