Variant report

Variant	rs530402077
Chromosome Location	chr8:130697598-130697599
allele	C/T
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	NFIC	chr8:130697302-130698639	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr8:130697224-130698596	HUVEC	blood vessel:	n/a	n/a
3	JUND	chr8:130697598-130698477	SK-N-SH	brain:	n/a	n/a
4	RCOR1	chr8:130697063-130697615	K562	blood:	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	NFIC	chr8:130697502-130698420	ECC-1	luminal epithelium:	n/a	n/a
8	GATA3	chr8:130697073-130698537	A549	lung:	n/a	chr8:130698168-130698178 chr8:130697676-130697685
9	FOSL2	chr8:130697537-130698546	SK-N-SH	brain:	n/a	n/a
10	TEAD4	chr8:130697528-130698473	SK-N-SH	brain:	n/a	chr8:130698041-130698050
11	FOSL1	chr8:130696980-130698570	HCT-116	colon:	n/a	n/a
12	TCF7L2	chr8:130697166-130698328	PANC-1	pancreas:	n/a	chr8:130697412-130697426 chr8:130697411-130697427 chr8:130697414-130697423 chr8:130697411-130697427
13	EP300	chr8:130697525-130698480	SK-N-SH	brain:	n/a	n/a
14	CUX1	chr8:130697481-130697674	K562	blood:	n/a	n/a
15	REST	chr8:130697361-130698298	A549	lung:	n/a	n/a
16	SP1	chr8:130697258-130698520	A549	lung:	n/a	n/a
17	POLR2A	chr8:130697393-130697639	HUVEC	blood vessel:	n/a	n/a
18	EP300	chr8:130697176-130698576	SK-N-SH	brain:	n/a	n/a
19	EP300	chr8:130697373-130698431	A549	lung:	n/a	n/a
20	CEBPB	chr8:130697562-130698428	A549	lung:	n/a	n/a
21	TCF7L2	chr8:130697209-130698352	HCT-116	colon:	n/a	chr8:130697412-130697426 chr8:130697411-130697427 chr8:130697414-130697423 chr8:130697411-130697427
22	FOSL2	chr8:130697272-130698397	A549	lung:	n/a	n/a
23	MAX	chr8:130696734-130698717	HCT-116	colon:	n/a	n/a
24	SIN3AK20	chr8:130697000-130698687	HCT-116	colon:	n/a	n/a
25	TCF12	chr8:130697481-130698585	SK-N-SH	brain:	n/a	n/a
26	MAX	chr8:130697237-130698785	A549	lung:	n/a	n/a
27	FOS	chr8:130697061-130698538	HUVEC	blood vessel:	n/a	n/a
28	GATA2	chr8:130696877-130698460	HUVEC	blood vessel:	n/a	chr8:130698168-130698178 chr8:130697676-130697685
29	TEAD4	chr8:130697297-130698467	HCT-116	colon:	n/a	chr8:130698041-130698050
30	GATA3	chr8:130697263-130698621	SK-N-SH	brain:	n/a	chr8:130698168-130698178 chr8:130697676-130697685
31	SP1	chr8:130697065-130698677	HCT-116	colon:	n/a	n/a
32	SP1	chr8:130696567-130698653	HCT-116	colon:	n/a	n/a
33	MAX	chr8:130697463-130698586	A549	lung:	n/a	n/a
34	POLR2A	chr8:130697082-130698714	HUVEC	blood vessel:	n/a	n/a
35	EP300	chr8:130697562-130697778	K562	blood:	n/a	n/a
36	JUND	chr8:130696929-130698755	HCT-116	colon:	n/a	n/a
37	FOXA1	chr8:130697118-130697602	HepG2	liver:	n/a	n/a
38	TEAD4	chr8:130697564-130698501	SK-N-SH	brain:	n/a	chr8:130698041-130698050
39	TCF12	chr8:130696866-130698740	A549	lung:	n/a	n/a
40	JUND	chr8:130697591-130698458	SK-N-SH	brain:	n/a	n/a
41	ARID3A	chr8:130697568-130697735	K562	blood:	n/a	n/a
42	RXRA	chr8:130697544-130698482	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr8:130696947-130698571	HCT-116	colon:	n/a	n/a
44	EP300	chr8:130697560-130698433	ECC-1	luminal epithelium:	n/a	n/a
45	FOSL1	chr8:130697214-130698502	HCT-116	colon:	n/a	n/a
46	GATA3	chr8:130697212-130698531	SK-N-SH	brain:	n/a	chr8:130698168-130698178 chr8:130697676-130697685
47	EP300	chr8:130697005-130698531	A549	lung:	n/a	n/a
48	TEAD4	chr8:130697257-130698708	HCT-116	colon:	n/a	chr8:130698041-130698050
49	TCF12	chr8:130697128-130698598	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:130696204..130698352-chr8:130701733..130703322,2	K562	blood:
2	chr8:130697457..130699780-chr8:130703396..130705887,2	K562	blood:
3	chr8:130694433..130695997-chr8:130696991..130698919,2	K562	blood:
4	chr8:130690016..130691591-chr8:130697534..130699622,2	K562	blood:
5	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130691800-130697800	Weak transcription	Lung	lung
2	chr8:130692400-130698000	Weak transcription	Psoas Muscle	Psoas
3	chr8:130692600-130698000	Weak transcription	Right Ventricle	heart
4	chr8:130694400-130697600	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:130694400-130697800	Weak transcription	Placenta	Placenta
6	chr8:130694400-130698000	Enhancers	Dnd41	blood
7	chr8:130694800-130697800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:130694800-130703200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:130695000-130697800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:130696200-130698800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr8:130696200-130701400	Weak transcription	Spleen	Spleen
12	chr8:130696200-130703000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr8:130696200-130703200	Weak transcription	Pancreas	Pancrea
14	chr8:130696200-130704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:130696800-130698600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr8:130696800-130698600	Enhancers	NH-A	brain
17	chr8:130696800-130698800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:130696800-130699200	Enhancers	NHDF-Ad	bronchial
19	chr8:130696800-130699400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:130696800-130699600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:130696800-130701600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:130697000-130698200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:130697000-130698200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr8:130697000-130698400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr8:130697000-130698600	Enhancers	Fetal Thymus	thymus
26	chr8:130697000-130698800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:130697000-130698800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr8:130697000-130698800	Enhancers	Rectal Smooth Muscle	rectum
29	chr8:130697000-130698800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr8:130697000-130698800	Enhancers	NHLF	lung
31	chr8:130697000-130699200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:130697000-130699800	Enhancers	Fetal Lung	lung
33	chr8:130697000-130700200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:130697000-130700200	Enhancers	Fetal Heart	heart
35	chr8:130697200-130697600	Enhancers	Primary T cells from cord blood	blood
36	chr8:130697200-130697800	Flanking Active TSS	HUVEC	blood vessel
37	chr8:130697200-130698400	Enhancers	Placenta Amnion	Placenta Amnion
38	chr8:130697200-130698600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr8:130697200-130698600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr8:130697200-130698600	Enhancers	Stomach Smooth Muscle	stomach
41	chr8:130697200-130698600	Enhancers	HepG2	liver
42	chr8:130697200-130698600	Enhancers	Osteobl	bone
43	chr8:130697400-130697800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:130697400-130697800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:130697400-130697800	Enhancers	Fetal Intestine Large	intestine
46	chr8:130697400-130698000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:130697400-130698200	Enhancers	Primary hematopoietic stem cells	blood
48	chr8:130697400-130698200	Enhancers	Ovary	ovary
49	chr8:130697400-130698200	Enhancers	Small Intestine	intestine
50	chr8:130697400-130698400	Enhancers	Cortex derived primary cultured neurospheres	brain

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