Variant report

Variant	rs534582359
Chromosome Location	chr8:67686951-67686952
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	PML	chr8:67686567-67687714	K562	blood:	n/a	n/a
2	POLR2A	chr8:67686681-67688096	HepG2	liver:	n/a	n/a
3	MAX	chr8:67686697-67687990	K562	blood:	n/a	chr8:67687341-67687351 chr8:67687527-67687536 chr8:67687391-67687401
4	E2F6	chr8:67686872-67688031	H1-hESC	embryonic stem cell:	n/a	chr8:67687679-67687694 chr8:67687450-67687460 chr8:67687414-67687424 chr8:67687410-67687419 chr8:67687640-67687649 chr8:67687395-67687405
5	HEY1	chr8:67686937-67687329	HepG2	liver:	n/a	n/a
6	POLR2A	chr8:67686906-67687909	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr8:67686920-67688072	Hela-S3	cervix:	n/a	n/a
8	HA-E2F1	chr8:67686732-67688122	MCF-7	breast:	n/a	chr8:67687679-67687694 chr8:67687450-67687460 chr8:67687414-67687424 chr8:67687410-67687419 chr8:67687640-67687649 chr8:67687395-67687405
9	SIN3A	chr8:67686758-67688381	H1-hESC	embryonic stem cell:	n/a	chr8:67687347-67687360 chr8:67687302-67687315 chr8:67688021-67688031
10	NFIC	chr8:67686883-67687625	HepG2	liver:	n/a	n/a
11	SRF	chr8:67686379-67688127	HCT-116	colon:	n/a	chr8:67687355-67687369 chr8:67687341-67687351 chr8:67687353-67687370 chr8:67687391-67687401
12	MYC	chr8:67686912-67687088	MCF10A-Er-Src	breast:	n/a	n/a
13	TBP	chr8:67686939-67687880	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTBP2	chr8:67686726-67687927	H1-hESC	embryonic stem cell:	n/a	n/a
15	NRF1	chr8:67686600-67688000	SK-N-SH	brain:	n/a	chr8:67687410-67687419 chr8:67687640-67687649
16	POLR2A	chr8:67686724-67687202	HepG2	liver:	n/a	n/a
17	TEAD4	chr8:67686513-67687683	K562	blood:	n/a	n/a
18	MAZ	chr8:67686650-67688094	K562	blood:	n/a	chr8:67687341-67687351 chr8:67687527-67687536 chr8:67687391-67687401
19	SP1	chr8:67686946-67687621	A549	lung:	n/a	chr8:67687390-67687402 chr8:67687410-67687420 chr8:67687410-67687419 chr8:67687392-67687401 chr8:67687180-67687189 chr8:67687409-67687421 chr8:67687411-67687420 chr8:67687342-67687351 chr8:67687411-67687420 chr8:67687391-67687401 chr8:67687181-67687194 chr8:67687340-67687352 chr8:67687410-67687420 chr8:67687409-67687421 chr8:67687341-67687351 chr8:67687319-67687329 chr8:67687341-67687350 chr8:67687319-67687329 chr8:67687340-67687352 chr8:67687387-67687401 chr8:67687340-67687351 chr8:67687406-67687420 chr8:67687390-67687402 chr8:67687391-67687400
20	KAP1	chr8:67686280-67688160	U2OS	brain:	n/a	n/a
21	ZNF143	chr8:67686862-67687017	Hela-S3	cervix:	n/a	n/a
22	TFAP2A	chr8:67686827-67687967	Hela-S3	cervix:	n/a	chr8:67687285-67687296 chr8:67687182-67687196
23	ATF2	chr8:67686828-67687282	H1-hESC	embryonic stem cell:	n/a	n/a
24	STAT3	chr8:67686841-67687015	MCF10A-Er-Src	breast:	n/a	n/a
25	TAL1	chr8:67686634-67686951	K562	blood:	n/a	n/a
26	POLR2A	chr8:67686907-67688033	SK-N-MC	brain:	n/a	n/a
27	CHD1	chr8:67686899-67687910	GM12878	blood:	n/a	n/a
28	POLR2A	chr8:67686819-67687891	H1-hESC	embryonic stem cell:	n/a	n/a
29	TCF7L2	chr8:67686782-67687970	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr8:67686580-67687969	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr8:67686882-67687972	Hela-S3	cervix:	n/a	n/a
32	MAFF	chr8:67686722-67687058	K562	blood:	n/a	n/a
33	POLR2A	chr8:67686854-67688014	GM12878	blood:	n/a	n/a
34	TCF12	chr8:67686903-67688170	A549	lung:	n/a	chr8:67687448-67687455 chr8:67687620-67687630 chr8:67687444-67687454
35	CREB1	chr8:67686811-67688019	HepG2	liver:	n/a	chr8:67687029-67687042
36	TAF1	chr8:67686946-67687354	H1-hESC	embryonic stem cell:	n/a	n/a
37	E2F4	chr8:67686919-67687931	MCF10A-Er-Src	breast:	n/a	chr8:67687679-67687694 chr8:67687450-67687460 chr8:67687414-67687424 chr8:67687410-67687419 chr8:67687640-67687649 chr8:67687395-67687405
38	TBP	chr8:67686886-67687174	Hela-S3	cervix:	n/a	n/a
39	E2F6	chr8:67686556-67688091	A549	lung:	n/a	chr8:67687679-67687694 chr8:67687450-67687460 chr8:67687414-67687424 chr8:67687410-67687419 chr8:67687640-67687649 chr8:67687395-67687405
40	POLR2A	chr8:67686936-67687656	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr8:67686653-67688043	HepG2	liver:	n/a	n/a
42	IRF1	chr8:67686887-67687925	K562	blood:	n/a	chr8:67687409-67687423 chr8:67687390-67687404 chr8:67687340-67687354 chr8:67687318-67687332
43	TFAP2C	chr8:67686661-67687823	Hela-S3	cervix:	n/a	chr8:67687284-67687299
44	MAX	chr8:67686930-67688061	ECC-1	luminal epithelium:	n/a	chr8:67687341-67687351 chr8:67687527-67687536 chr8:67687391-67687401
45	TAF1	chr8:67686870-67687991	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr8:67686903-67687266	Hela-S3	cervix:	n/a	n/a
47	SP1	chr8:67686856-67687747	A549	lung:	n/a	chr8:67687390-67687402 chr8:67687410-67687420 chr8:67687410-67687419 chr8:67687392-67687401 chr8:67687180-67687189 chr8:67687409-67687421 chr8:67687411-67687420 chr8:67687342-67687351 chr8:67687411-67687420 chr8:67687391-67687401 chr8:67687181-67687194 chr8:67687340-67687352 chr8:67687410-67687420 chr8:67687409-67687421 chr8:67687341-67687351 chr8:67687319-67687329 chr8:67687341-67687350 chr8:67687319-67687329 chr8:67687340-67687352 chr8:67687387-67687401 chr8:67687340-67687351 chr8:67687406-67687420 chr8:67687390-67687402 chr8:67687391-67687400
48	FOS	chr8:67686896-67687095	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr8:67686903-67687605	IMR90	lung:	n/a	n/a
50	ATF2	chr8:67686950-67687392	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:67686942-67686992	PANC-1	pancreas:	n/a
2	chr8:67686942-67686992	HCPEpiC	choroid plexus:	n/a
3	chr8:67686942-67686992	HIPEpiC	eye:	n/a
4	chr8:67686942-67686992	Jurkat	blood:	n/a
5	chr8:67686942-67686992	HMEC	breast:	n/a
6	chr8:67686942-67686992	Hepatocyte	liver:	n/a
7	chr8:67686942-67686992	LNCaP	prostate:	n/a
8	chr8:67686942-67686992	ECC-1	luminal epithelium:	n/a
9	chr8:67686942-67686992	HL-60	blood:	n/a
10	chr8:67686942-67686992	HAEpiC	amniotic membrane:	n/a
11	chr8:67686942-67686992	T-47D	breast:	n/a
12	chr8:67686942-67686992	MCF-7	breast:	n/a
13	chr8:67686942-67686992	HRE	kidney:	n/a
14	chr8:67686942-67686992	NHBE	bronchial:	n/a
15	chr8:67686942-67686992	AG09309	skin:	n/a
16	chr8:67686942-67686992	SK-N-SH_RA	brain:	n/a
17	chr8:67686942-67686992	ovcar-3	ovarian:	n/a
18	chr8:67686942-67686992	NHDF-neo	bronchial:	n/a
19	chr8:67686942-67686992	AG09319	gingival:	n/a
20	chr8:67686942-67686992	GM12878	blood:	n/a
21	chr8:67686942-67686992	ProgFib	skin:	n/a
22	chr8:67686942-67686992	HepG2	liver:	n/a
23	chr8:67686942-67686992	GM12892	blood:	n/a
24	chr8:67686942-67686992	IMR90	lung:	fetal
25	chr8:67686942-67686992	AG10803	skin:	n/a
26	chr8:67686942-67686992	SAEC	small airway:	n/a
27	chr8:67686942-67686992	HEEpiC	esophagus:	n/a
28	chr8:67686942-67686992	Hela-S3	cervix:	n/a
29	chr8:67686942-67686992	GM12891	blood:	n/a
30	chr8:67686942-67686992	HPAEpiC	pulmonary alveolar:	n/a
31	chr8:67686942-67686992	AoSMC	blood vessel:	n/a
32	chr8:67686942-67686992	MCF10A-Er-Src	breast:	n/a
33	chr8:67686942-67686992	NH-A	brain:	n/a
34	chr8:67686942-67686992	BJ	skin:	n/a
35	chr8:67686942-67686992	NB4	blood:	n/a
36	chr8:67686942-67686992	Caco-2	colon:	n/a
37	chr8:67686942-67686992	HCF	heart:	n/a
38	chr8:67686942-67686992	SK-N-MC	brain:	n/a
39	chr8:67686942-67686992	PrEC	prostate:	n/a
40	chr8:67686942-67686992	GM06990	blood:	n/a
41	chr8:67686942-67686992	BE2_C	brain:	n/a
42	chr8:67686942-67686992	HNPCEpiC	eye:	n/a
43	chr8:67686942-67686992	HRPEpiC	eye:	n/a
44	chr8:67686942-67686992	GM19239	blood:	n/a
45	chr8:67686942-67686992	HRCEpiC	kidney:	n/a
46	chr8:67686942-67686992	HCM	heart:	n/a
47	chr8:67686942-67686992	HEK293	kidney:	embryo
48	chr8:67686942-67686992	U87	brain:	n/a
49	chr8:67686942-67686992	SKMC	muscle:	n/a
50	chr8:67686942-67686992	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:67524115..67526215-chr8:67685855..67687886,2	K562	blood:
2	chr8:67623840..67628206-chr8:67684536..67689963,10	MCF-7	breast:
3	chr8:67679426..67682850-chr8:67685212..67688509,3	MCF-7	breast:
4	chr8:67624145..67628067-chr8:67684003..67690579,11	MCF-7	breast:
5	chr14:20922332..20925092-chr8:67686115..67688747,2	MCF-7	breast:
6	chr8:67679605..67685169-chr8:67685347..67688416,6	MCF-7	breast:
7	chr8:67686161..67689126-chr8:67837035..67839189,3	MCF-7	breast:

Variant related genes	Relation type
SGK3	TF binding region
SGK3	CpG island
ENSG00000092094	Chromatin interaction
ENSG00000104205	Chromatin interaction
ENSG00000245910	Chromatin interaction
ENSG00000100823	Chromatin interaction
ENSG00000185697	Chromatin interaction
ENSG00000213005	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026746	chr8:67639626-67794164	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv3405382	chr8:67686223-67688771	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67686200-67687000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:67686400-67687000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:67686400-67687000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr8:67686400-67687000	Flanking Active TSS	Hela-S3	cervix
5	chr8:67686400-67687200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:67686400-67687200	Active TSS	Fetal Brain Female	brain
7	chr8:67686400-67687200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr8:67686400-67687400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr8:67686400-67688000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:67686400-67688000	Active TSS	Brain Germinal Matrix	brain
11	chr8:67686400-67688000	Active TSS	Osteobl	bone
12	chr8:67686400-67688200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:67686400-67688400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr8:67686400-67688400	Active TSS	Colonic Mucosa	Colon
15	chr8:67686400-67688400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr8:67686400-67688400	Active TSS	Right Atrium	heart
17	chr8:67686400-67688600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr8:67686400-67688600	Active TSS	Stomach Smooth Muscle	stomach
19	chr8:67686400-67688800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr8:67686400-67689200	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr8:67686600-67687000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:67686600-67687000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:67686600-67687000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:67686600-67687000	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr8:67686600-67687000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:67686600-67687000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr8:67686600-67687000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:67686600-67687000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr8:67686600-67687000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr8:67686600-67687000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:67686600-67687000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:67686600-67687000	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr8:67686600-67687000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr8:67686600-67687000	Flanking Active TSS	Fetal Thymus	thymus
35	chr8:67686600-67687000	Flanking Active TSS	GM12878-XiMat	blood
36	chr8:67686600-67687000	Flanking Active TSS	HMEC	breast
37	chr8:67686600-67687000	Flanking Active TSS	K562	blood
38	chr8:67686600-67687000	Flanking Active TSS	NHEK	skin
39	chr8:67686600-67687200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr8:67686600-67687200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr8:67686600-67687200	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr8:67686600-67687200	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr8:67686600-67687200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr8:67686600-67687200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr8:67686600-67687200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr8:67686600-67687200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:67686600-67687200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:67686600-67687200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr8:67686600-67687200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr8:67686600-67687200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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