Variant report

Variant	rs557100683
Chromosome Location	chr8:67687176-67687177
allele	C/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	chr8:67687018-67687957	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr8:67687046-67687979	K562	blood:	n/a	n/a
4	ELF1	chr8:67687055-67687992	GM12878	blood:	n/a	chr8:67687605-67687617
5	E2F1	chr8:67686975-67687939	Hela-S3	cervix:	n/a	chr8:67687679-67687694 chr8:67687450-67687460 chr8:67687414-67687424 chr8:67687410-67687419 chr8:67687640-67687649 chr8:67687395-67687405
6	FOXA1	chr8:67687073-67687387	ECC-1	luminal epithelium:	n/a	n/a
7	MTA3	chr8:67686988-67687584	GM12878	blood:	n/a	n/a
8	POLR2A	chr8:67686681-67688096	HepG2	liver:	n/a	n/a
9	POLR2A	chr8:67686957-67687915	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr8:67687138-67687948	GM19099	blood:	n/a	n/a
11	MAX	chr8:67686697-67687990	K562	blood:	n/a	chr8:67687341-67687351 chr8:67687527-67687536 chr8:67687391-67687401
12	POLR2A	chr8:67687137-67687888	GM10847	blood:	n/a	n/a
13	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
14	ZBTB7A	chr8:67687125-67687388	K562	blood:	n/a	n/a
15	CCNT2	chr8:67687156-67687856	K562	blood:	n/a	chr8:67687410-67687419
16	TAF1	chr8:67687172-67687710	A549	lung:	n/a	n/a
17	HEY1	chr8:67686937-67687329	HepG2	liver:	n/a	n/a
18	EGR1	chr8:67687022-67687688	K562	blood:	n/a	chr8:67687406-67687420 chr8:67687410-67687420 chr8:67687176-67687189 chr8:67687387-67687401
19	FOXP2	chr8:67687083-67687818	PFSK-1	brain:	n/a	n/a
20	GTF2F1	chr8:67687032-67687500	H1-hESC	embryonic stem cell:	n/a	n/a
21	FOXA1	chr8:67687011-67687507	T-47D	breast:	n/a	n/a
22	POLR2A	chr8:67686906-67687909	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr8:67687085-67687899	A549	lung:	n/a	chr8:67687341-67687351 chr8:67687527-67687536 chr8:67687391-67687401
24	POLR2A	chr8:67686920-67688072	Hela-S3	cervix:	n/a	n/a
25	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
26	HDAC2	chr8:67687044-67687946	H1-hESC	embryonic stem cell:	n/a	chr8:67687270-67687279
27	EGR1	chr8:67686984-67687645	H1-hESC	embryonic stem cell:	n/a	chr8:67687406-67687420 chr8:67687410-67687420 chr8:67687176-67687189 chr8:67687387-67687401
28	SIN3A	chr8:67686758-67688381	H1-hESC	embryonic stem cell:	n/a	chr8:67687347-67687360 chr8:67687302-67687315 chr8:67688021-67688031
29	POLR2A	chr8:67687065-67687902	MCF-7	breast:	n/a	n/a
30	POLR2A	chr8:67687149-67687614	K562	blood:	n/a	n/a
31	NFIC	chr8:67686883-67687625	HepG2	liver:	n/a	n/a
32	SRF	chr8:67686379-67688127	HCT-116	colon:	n/a	chr8:67687355-67687369 chr8:67687341-67687351 chr8:67687353-67687370 chr8:67687391-67687401
33	FOXA2	chr8:67687050-67687594	A549	lung:	n/a	n/a
34	POLR2A	chr8:67686991-67687921	K562	blood:	n/a	n/a
35	TBP	chr8:67686939-67687880	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTBP2	chr8:67686726-67687927	H1-hESC	embryonic stem cell:	n/a	n/a
37	NRF1	chr8:67686600-67688000	SK-N-SH	brain:	n/a	chr8:67687410-67687419 chr8:67687640-67687649
38	FOXA1	chr8:67687146-67687362	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr8:67687013-67687947	GM18951	blood:	n/a	n/a
40	SMC3	chr8:67686985-67688156	Hela-S3	cervix:	n/a	chr8:67687467-67687474 chr8:67687407-67687417
41	POLR2A	chr8:67686724-67687202	HepG2	liver:	n/a	n/a
42	TEAD4	chr8:67686513-67687683	K562	blood:	n/a	n/a
43	SP4	chr8:67686997-67687768	H1-hESC	embryonic stem cell:	n/a	chr8:67687407-67687423 chr8:67687405-67687421 chr8:67687388-67687404 chr8:67687340-67687351
44	SRF	chr8:67687154-67687563	H1-hESC	embryonic stem cell:	n/a	chr8:67687355-67687369 chr8:67687341-67687351 chr8:67687353-67687370 chr8:67687391-67687401
45	MAZ	chr8:67686650-67688094	K562	blood:	n/a	chr8:67687341-67687351 chr8:67687527-67687536 chr8:67687391-67687401
46	EP300	chr8:67687036-67687750	T-47D	breast:	n/a	chr8:67687453-67687469 chr8:67687401-67687417
47	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
48	KAP1	chr8:67686280-67688160	U2OS	brain:	n/a	n/a
49	IRF1	chr8:67687093-67688229	K562	blood:	n/a	chr8:67687409-67687423 chr8:67687390-67687404 chr8:67687340-67687354 chr8:67687318-67687332
50	TFAP2A	chr8:67686827-67687967	Hela-S3	cervix:	n/a	chr8:67687285-67687296 chr8:67687182-67687196

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	chr17:56756420..56757356-chr8:67687029..67687539,2	Hela-S3	cervix:
7	chr8:67679605..67685169-chr8:67685347..67688416,6	MCF-7	breast:
8	chr8:67686161..67689126-chr8:67837035..67839189,3	MCF-7	breast:

Variant related genes	Relation type
SGK3	TF binding region
ENSG00000100823	Chromatin interaction
ENSG00000245910	Chromatin interaction
ENSG00000104205	Chromatin interaction
ENSG00000092094	Chromatin interaction
ENSG00000213005	Chromatin interaction
ENSG00000200997	Chromatin interaction
ENSG00000185697	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67686400-67687200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:67686400-67687200	Active TSS	Fetal Brain Female	brain
3	chr8:67686400-67687200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr8:67686400-67687400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr8:67686400-67688000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:67686400-67688000	Active TSS	Brain Germinal Matrix	brain
7	chr8:67686400-67688000	Active TSS	Osteobl	bone
8	chr8:67686400-67688200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:67686400-67688400	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr8:67686400-67688400	Active TSS	Colonic Mucosa	Colon
11	chr8:67686400-67688400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr8:67686400-67688400	Active TSS	Right Atrium	heart
13	chr8:67686400-67688600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr8:67686400-67688600	Active TSS	Stomach Smooth Muscle	stomach
15	chr8:67686400-67688800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr8:67686400-67689200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr8:67686600-67687200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr8:67686600-67687200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr8:67686600-67687200	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr8:67686600-67687200	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr8:67686600-67687200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr8:67686600-67687200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr8:67686600-67687200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr8:67686600-67687200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:67686600-67687200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:67686600-67687200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr8:67686600-67687200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr8:67686600-67687200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:67686600-67687200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:67686600-67687200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:67686600-67687200	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr8:67686600-67687200	Flanking Active TSS	Liver	Liver
33	chr8:67686600-67687200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
34	chr8:67686600-67687200	Flanking Active TSS	Placenta	Placenta
35	chr8:67686600-67687200	Active TSS	Fetal Stomach	stomach
36	chr8:67686600-67687200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr8:67686600-67687200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr8:67686600-67687600	Active TSS	Fetal Brain Male	brain
39	chr8:67686600-67687800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:67686600-67687800	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr8:67686600-67687800	Active TSS	HSMMtube	muscle
42	chr8:67686600-67687800	Active TSS	NH-A	brain
43	chr8:67686600-67688000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:67686600-67688000	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr8:67686600-67688000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr8:67686600-67688000	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr8:67686600-67688000	Active TSS	Duodenum Mucosa	Duodenum
48	chr8:67686600-67688000	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr8:67686600-67688000	Active TSS	Fetal Kidney	kidney
50	chr8:67686600-67688000	Active TSS	HSMM	muscle

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