Variant report

Variant	rs555702720
Chromosome Location	chr8:19499588-19499589
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	STAT3	chr8:19499584-19499989	MCF10A-Er-Src	breast:	n/a	n/a
2	ETS1	chr8:19499485-19499994	A549	lung:	n/a	n/a
3	FOS	chr8:19499538-19499953	MCF10A-Er-Src	breast:	n/a	chr8:19499779-19499787 chr8:19499806-19499816 chr8:19499806-19499816
4	JUND	chr8:19499515-19500229	A549	lung:	n/a	chr8:19499779-19499787 chr8:19499806-19499816 chr8:19499806-19499816
5	FOSL2	chr8:19499524-19499944	MCF-7	breast:	n/a	chr8:19499779-19499787 chr8:19499806-19499816 chr8:19499806-19499816
6	BCL3	chr8:19499144-19500243	A549	lung:	n/a	n/a
7	CEBPB	chr8:19499388-19500041	A549	lung:	n/a	chr8:19499652-19499663
8	SP1	chr8:19499207-19500293	A549	lung:	n/a	n/a
9	EP300	chr8:19499206-19500198	A549	lung:	n/a	n/a
10	RAD21	chr8:19499336-19500178	A549	lung:	n/a	n/a
11	EP300	chr8:19499501-19500033	Hela-S3	cervix:	n/a	n/a
12	SMC3	chr8:19499481-19500030	Hela-S3	cervix:	n/a	n/a
13	REST	chr8:19499197-19500147	A549	lung:	n/a	n/a
14	FOS	chr8:19499452-19500003	MCF10A-Er-Src	breast:	n/a	chr8:19499779-19499787 chr8:19499806-19499816 chr8:19499806-19499816
15	GATA3	chr8:19499493-19499952	MCF-7	breast:	n/a	n/a
16	USF1	chr8:19499425-19499958	A549	lung:	n/a	n/a
17	MYC	chr8:19499483-19499853	MCF10A-Er-Src	breast:	n/a	n/a
18	TEAD4	chr8:19499328-19500053	A549	lung:	n/a	n/a
19	TEAD4	chr8:19499444-19500034	A549	lung:	n/a	n/a
20	POLR2A	chr8:19499494-19499950	U87	brain:	n/a	n/a
21	FOSL2	chr8:19499127-19500299	A549	lung:	n/a	chr8:19499779-19499787 chr8:19499806-19499816 chr8:19499806-19499816
22	FOS	chr8:19499476-19499992	MCF10A-Er-Src	breast:	n/a	chr8:19499779-19499787 chr8:19499806-19499816 chr8:19499806-19499816
23	RAD21	chr8:19499377-19499858	Hela-S3	cervix:	n/a	n/a
24	NR3C1	chr8:19499117-19499829	A549	lung:	n/a	n/a
25	CEBPB	chr8:19499483-19499943	MCF-7	breast:	n/a	chr8:19499652-19499663
26	FOXA2	chr8:19499313-19500205	A549	lung:	n/a	chr8:19499707-19499719
27	CEBPB	chr8:19499477-19499971	Hela-S3	cervix:	n/a	chr8:19499652-19499663
28	FOS	chr8:19499254-19500024	Hela-S3	cervix:	n/a	chr8:19499779-19499787 chr8:19499806-19499816 chr8:19499806-19499816
29	ATF3	chr8:19499332-19499995	A549	lung:	n/a	n/a
30	CEBPB	chr8:19499557-19499830	MCF-7	breast:	n/a	chr8:19499652-19499663
31	RAD21	chr8:19499404-19500032	A549	lung:	n/a	n/a
32	CEBPB	chr8:19499000-19499931	A549	lung:	n/a	chr8:19499652-19499663
33	STAT3	chr8:19499569-19499913	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr8:19499448-19499997	MCF10A-Er-Src	breast:	n/a	chr8:19499779-19499787 chr8:19499806-19499816 chr8:19499806-19499816
35	MAX	chr8:19499166-19500359	A549	lung:	n/a	n/a
36	SP1	chr8:19499029-19500306	A549	lung:	n/a	n/a
37	GABPA	chr8:19499404-19500068	A549	lung:	n/a	n/a
38	EP300	chr8:19499103-19500308	A549	lung:	n/a	n/a
39	SIX5	chr8:19498756-19500071	A549	lung:	n/a	n/a
40	CEBPB	chr8:19499265-19500222	A549	lung:	n/a	chr8:19499652-19499663
41	TCF7L2	chr8:19499550-19500041	Hela-S3	cervix:	n/a	n/a
42	SIN3AK20	chr8:19499526-19499923	A549	lung:	n/a	n/a
43	TCF12	chr8:19499420-19500016	A549	lung:	n/a	n/a
44	STAT3	chr8:19499494-19499958	Hela-S3	cervix:	n/a	n/a
45	RFX5	chr8:19499470-19500063	Hela-S3	cervix:	n/a	n/a
46	TCF12	chr8:19498915-19500334	A549	lung:	n/a	chr8:19498922-19498932
47	CEBPB	chr8:19499472-19499960	IMR90	lung:	n/a	chr8:19499652-19499663
48	EP300	chr8:19499452-19499852	HepG2	liver:	n/a	n/a
49	JUND	chr8:19499348-19499968	A549	lung:	n/a	chr8:19499779-19499787 chr8:19499806-19499816 chr8:19499806-19499816
50	GATA3	chr8:19499168-19500296	A549	lung:	n/a	n/a

Variant related genes	Relation type
CSGALNACT1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv610754	chr8:19419494-19525294	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1015448	chr8:19474715-19520367	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv6106	chr8:19499554-19544249	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19482000-19520000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:19485400-19500000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:19488800-19501200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:19489800-19500000	Weak transcription	Lung	lung
5	chr8:19495600-19500400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:19495800-19500200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr8:19495800-19508600	Weak transcription	Primary T cells from cord blood	blood
8	chr8:19496000-19501200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr8:19496000-19502400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr8:19496000-19503000	Weak transcription	Pancreas	Pancrea
11	chr8:19496000-19503000	Weak transcription	Right Atrium	heart
12	chr8:19496000-19503000	Weak transcription	Spleen	Spleen
13	chr8:19496000-19504200	Weak transcription	Right Ventricle	heart
14	chr8:19496200-19500200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:19496200-19502600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr8:19496800-19501600	Weak transcription	Primary B cells from cord blood	blood
17	chr8:19496800-19501800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:19497000-19499600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr8:19497600-19500400	Flanking Active TSS	A549	lung
20	chr8:19497600-19502800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:19497800-19500400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:19497800-19501600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr8:19498200-19500400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:19498200-19501600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:19498200-19508200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:19498400-19500400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr8:19498400-19500400	Enhancers	NHLF	lung
28	chr8:19498600-19499600	Enhancers	Fetal Brain Male	brain
29	chr8:19498600-19500400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:19498600-19501000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr8:19498800-19500200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:19498800-19500400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr8:19498800-19500400	Enhancers	HepG2	liver
34	chr8:19498800-19500400	Enhancers	NH-A	brain
35	chr8:19499000-19500000	Enhancers	Brain Hippocampus Middle	brain
36	chr8:19499000-19500000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:19499000-19500000	Weak transcription	Left Ventricle	heart
38	chr8:19499200-19499600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:19499200-19499600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:19499200-19499600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:19499200-19499600	Flanking Active TSS	Hela-S3	cervix
42	chr8:19499200-19499600	Flanking Active TSS	NHDF-Ad	bronchial
43	chr8:19499200-19499600	Flanking Active TSS	Osteobl	bone
44	chr8:19499200-19500200	Enhancers	Brain Cingulate Gyrus	brain
45	chr8:19499200-19500200	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr8:19499200-19500200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr8:19499200-19500400	Enhancers	Fetal Lung	lung
48	chr8:19499200-19500400	Enhancers	HMEC	breast
49	chr8:19499200-19500400	Enhancers	HUVEC	blood vessel
50	chr8:19499200-19501800	Enhancers	Brain Substantia Nigra	brain

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