Variant report

Variant	rs551590712
Chromosome Location	chr8:130698449-130698450
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	PBX3	chr8:130697637-130698554	SK-N-SH	brain:	n/a	n/a
2	NFIC	chr8:130697302-130698639	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr8:130697224-130698596	HUVEC	blood vessel:	n/a	n/a
4	JUND	chr8:130697598-130698477	SK-N-SH	brain:	n/a	n/a
5	SP1	chr8:130697348-130698508	A549	lung:	n/a	n/a
6	JUND	chr8:130697083-130698644	HCT-116	colon:	n/a	n/a
7	GATA3	chr8:130697073-130698537	A549	lung:	n/a	chr8:130698168-130698178 chr8:130697676-130697685
8	FOSL2	chr8:130697537-130698546	SK-N-SH	brain:	n/a	n/a
9	TEAD4	chr8:130697528-130698473	SK-N-SH	brain:	n/a	chr8:130698041-130698050
10	POLR2A	chr8:130697637-130698701	HUVEC	blood vessel:	n/a	n/a
11	FOSL1	chr8:130696980-130698570	HCT-116	colon:	n/a	n/a
12	EP300	chr8:130697525-130698480	SK-N-SH	brain:	n/a	n/a
13	RXRA	chr8:130697751-130698450	SK-N-SH	brain:	n/a	n/a
14	GABPA	chr8:130697760-130698452	A549	lung:	n/a	chr8:130698126-130698135
15	SP1	chr8:130697258-130698520	A549	lung:	n/a	n/a
16	EP300	chr8:130697176-130698576	SK-N-SH	brain:	n/a	n/a
17	E2F6	chr8:130697624-130698643	A549	lung:	n/a	n/a
18	YY1	chr8:130697723-130698509	SK-N-SH	brain:	n/a	chr8:130698249-130698265 chr8:130698250-130698260
19	MAX	chr8:130696734-130698717	HCT-116	colon:	n/a	n/a
20	PBX3	chr8:130697614-130698479	SK-N-SH	brain:	n/a	n/a
21	SIN3AK20	chr8:130697000-130698687	HCT-116	colon:	n/a	n/a
22	TCF12	chr8:130697481-130698585	SK-N-SH	brain:	n/a	n/a
23	MAX	chr8:130697237-130698785	A549	lung:	n/a	n/a
24	MAX	chr8:130697759-130698602	SK-N-SH	brain:	n/a	n/a
25	FOS	chr8:130697061-130698538	HUVEC	blood vessel:	n/a	n/a
26	GATA2	chr8:130696877-130698460	HUVEC	blood vessel:	n/a	chr8:130698168-130698178 chr8:130697676-130697685
27	TEAD4	chr8:130697297-130698467	HCT-116	colon:	n/a	chr8:130698041-130698050
28	GATA3	chr8:130697263-130698621	SK-N-SH	brain:	n/a	chr8:130698168-130698178 chr8:130697676-130697685
29	SP1	chr8:130697065-130698677	HCT-116	colon:	n/a	n/a
30	SP1	chr8:130696567-130698653	HCT-116	colon:	n/a	n/a
31	MAX	chr8:130697463-130698586	A549	lung:	n/a	n/a
32	POLR2A	chr8:130697082-130698714	HUVEC	blood vessel:	n/a	n/a
33	MAX	chr8:130697626-130698514	SK-N-SH	brain:	n/a	n/a
34	JUND	chr8:130696929-130698755	HCT-116	colon:	n/a	n/a
35	TEAD4	chr8:130697564-130698501	SK-N-SH	brain:	n/a	chr8:130698041-130698050
36	MAFK	chr8:130697908-130698520	IMR90	lung:	n/a	n/a
37	TCF12	chr8:130696866-130698740	A549	lung:	n/a	n/a
38	JUND	chr8:130697591-130698458	SK-N-SH	brain:	n/a	n/a
39	TCF12	chr8:130697738-130698456	A549	lung:	n/a	n/a
40	RXRA	chr8:130697544-130698482	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr8:130696947-130698571	HCT-116	colon:	n/a	n/a
42	FOSL1	chr8:130697214-130698502	HCT-116	colon:	n/a	n/a
43	GATA3	chr8:130697212-130698531	SK-N-SH	brain:	n/a	chr8:130698168-130698178 chr8:130697676-130697685
44	TEAD4	chr8:130697615-130698584	A549	lung:	n/a	chr8:130698041-130698050
45	EP300	chr8:130697005-130698531	A549	lung:	n/a	n/a
46	TEAD4	chr8:130697257-130698708	HCT-116	colon:	n/a	chr8:130698041-130698050
47	TCF12	chr8:130697128-130698598	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:130698168..130701867-chr8:130706682..130711085,4	MCF-7	breast:
2	chr8:130697457..130699780-chr8:130703396..130705887,2	K562	blood:
3	chr8:130694433..130695997-chr8:130696991..130698919,2	K562	blood:
4	chr8:130689876..130691516-chr8:130698060..130699622,2	K562	blood:
5	chr8:130690016..130691591-chr8:130697534..130699622,2	K562	blood:
6	chr8:128806162..128808310-chr8:130696628..130698534,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254223	TF binding region
ENSG00000254223	Chromatin interaction
ENSG00000249859	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	nsv891446	chr8:130656205-130710638	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1018106	chr8:130697368-130708333	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130694800-130703200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:130696200-130698800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr8:130696200-130701400	Weak transcription	Spleen	Spleen
4	chr8:130696200-130703000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr8:130696200-130703200	Weak transcription	Pancreas	Pancrea
6	chr8:130696200-130704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:130696800-130698600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr8:130696800-130698600	Enhancers	NH-A	brain
9	chr8:130696800-130698800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:130696800-130699200	Enhancers	NHDF-Ad	bronchial
11	chr8:130696800-130699400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:130696800-130699600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:130696800-130701600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:130697000-130698600	Enhancers	Fetal Thymus	thymus
15	chr8:130697000-130698800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:130697000-130698800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:130697000-130698800	Enhancers	Rectal Smooth Muscle	rectum
18	chr8:130697000-130698800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr8:130697000-130698800	Enhancers	NHLF	lung
20	chr8:130697000-130699200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:130697000-130699800	Enhancers	Fetal Lung	lung
22	chr8:130697000-130700200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:130697000-130700200	Enhancers	Fetal Heart	heart
24	chr8:130697200-130698600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr8:130697200-130698600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr8:130697200-130698600	Enhancers	Stomach Smooth Muscle	stomach
27	chr8:130697200-130698600	Enhancers	HepG2	liver
28	chr8:130697200-130698600	Enhancers	Osteobl	bone
29	chr8:130697400-130698600	Enhancers	Liver	Liver
30	chr8:130697400-130698600	Enhancers	Fetal Stomach	stomach
31	chr8:130697400-130698600	Enhancers	HSMMtube	muscle
32	chr8:130697400-130698600	Genic enhancers	K562	blood
33	chr8:130697400-130698800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:130697400-130698800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:130697400-130698800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:130697400-130698800	Enhancers	Fetal Muscle Leg	muscle
37	chr8:130697400-130698800	Enhancers	HMEC	breast
38	chr8:130697400-130698800	Enhancers	HSMM	muscle
39	chr8:130697600-130698600	Enhancers	Colon Smooth Muscle	Colon
40	chr8:130697600-130698600	Enhancers	Hela-S3	cervix
41	chr8:130697600-130698800	Enhancers	Aorta	Aorta
42	chr8:130697800-130698600	Enhancers	Placenta	Placenta
43	chr8:130697800-130698800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:130697800-130698800	Enhancers	NHEK	skin
45	chr8:130697800-130699000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:130697800-130699600	Enhancers	HUVEC	blood vessel
47	chr8:130697800-130699800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:130698000-130698600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:130698000-130698600	Enhancers	Psoas Muscle	Psoas
50	chr8:130698000-130698600	Enhancers	Right Ventricle	heart

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