Variant report

Variant	rs369912980
Chromosome Location	chr5:154133736-154133737
allele	-/A
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	ZC3H11A	chr5:154133237-154133761	K562	blood:	n/a	n/a
2	TCF12	chr5:154133420-154136643	A549	lung:	n/a	chr5:154133494-154133502 chr5:154134317-154134324
3	POLR2A	chr5:154133143-154136943	K562	blood:	n/a	n/a
4	KAP1	chr5:154133069-154134713	HEK293	kidney:	n/a	chr5:154134604-154134612
5	MYC	chr5:154133333-154137235	K562	blood:	n/a	chr5:154136511-154136521 chr5:154134523-154134532 chr5:154134538-154134548 chr5:154134657-154134668 chr5:154134656-154134669 chr5:154133516-154133527 chr5:154136963-154136973 chr5:154134650-154134659 chr5:154136730-154136740 chr5:154133517-154133526 chr5:154133518-154133525 chr5:154134657-154134668 chr5:154134658-154134667
6	MXI1	chr5:154132804-154137423	IMR90	lung:	n/a	n/a
7	POLR2A	chr5:154133358-154135811	HEK293	kidney:	n/a	n/a
8	JUND	chr5:154133417-154134014	K562	blood:	n/a	n/a
9	POLR2A	chr5:154133174-154137235	Raji	blood:	n/a	n/a
10	POLR2A	chr5:154133576-154135735	HUVEC	blood vessel:	n/a	n/a
11	MYC	chr5:154133269-154135639	MCF10A-Er-Src	breast:	n/a	chr5:154134523-154134532 chr5:154134538-154134548 chr5:154134657-154134668 chr5:154134656-154134669 chr5:154133516-154133527 chr5:154134650-154134659 chr5:154133517-154133526 chr5:154133518-154133525 chr5:154134657-154134668 chr5:154134658-154134667
12	MYC	chr5:154133383-154137123	K562	blood:	n/a	chr5:154136511-154136521 chr5:154134523-154134532 chr5:154134538-154134548 chr5:154134657-154134668 chr5:154134656-154134669 chr5:154133516-154133527 chr5:154136963-154136973 chr5:154134650-154134659 chr5:154136730-154136740 chr5:154133517-154133526 chr5:154133518-154133525 chr5:154134657-154134668 chr5:154134658-154134667
13	POLR2A	chr5:154133080-154137254	K562	blood:	n/a	n/a
14	MYC	chr5:154133238-154137250	K562	blood:	n/a	chr5:154136511-154136521 chr5:154134523-154134532 chr5:154134538-154134548 chr5:154134657-154134668 chr5:154134656-154134669 chr5:154133516-154133527 chr5:154136963-154136973 chr5:154134650-154134659 chr5:154136730-154136740 chr5:154133517-154133526 chr5:154133518-154133525 chr5:154134657-154134668 chr5:154134658-154134667
15	POLR2A	chr5:154133625-154136902	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr5:154133099-154137349	GM12878	blood:	n/a	n/a
17	RAD21	chr5:154133424-154133739	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr5:154133263-154133889	K562	blood:	n/a	n/a
19	SMC3	chr5:154133414-154134899	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr5:154133280-154133761	Hela-S3	cervix:	n/a	n/a
21	MAX	chr5:154133246-154135031	Hela-S3	cervix:	n/a	chr5:154134523-154134532 chr5:154134538-154134548 chr5:154134657-154134668 chr5:154134656-154134669 chr5:154133516-154133527 chr5:154134650-154134659 chr5:154133517-154133526 chr5:154133518-154133525 chr5:154134657-154134668 chr5:154134658-154134667
22	CHD1	chr5:154133024-154137347	IMR90	lung:	n/a	chr5:154134738-154134748 chr5:154134289-154134299 chr5:154134663-154134673 chr5:154134733-154134743
23	POLR2A	chr5:154133088-154133742	GM12892	blood:	n/a	n/a
24	POLR2A	chr5:154133277-154137092	GM19099	blood:	n/a	n/a
25	MYC	chr5:154133348-154135383	K562	blood:	n/a	chr5:154134523-154134532 chr5:154134538-154134548 chr5:154134657-154134668 chr5:154134656-154134669 chr5:154133516-154133527 chr5:154134650-154134659 chr5:154133517-154133526 chr5:154133518-154133525 chr5:154134657-154134668 chr5:154134658-154134667
26	TEAD4	chr5:154133163-154133850	K562	blood:	n/a	n/a
27	POLR2A	chr5:154133128-154136602	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr5:154133289-154135382	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr5:154133287-154137200	Hela-S3	cervix:	n/a	n/a
30	TBL1XR1	chr5:154133142-154134819	K562	blood:	n/a	n/a
31	POLR2A	chr5:154133314-154134048	HCT-116	colon:	n/a	n/a
32	RCOR1	chr5:154133103-154135011	IMR90	lung:	n/a	n/a
33	MAX	chr5:154133103-154135435	HCT-116	colon:	n/a	chr5:154134523-154134532 chr5:154134538-154134548 chr5:154134657-154134668 chr5:154134656-154134669 chr5:154133516-154133527 chr5:154134650-154134659 chr5:154133517-154133526 chr5:154133518-154133525 chr5:154134657-154134668 chr5:154134658-154134667
34	MAX	chr5:154133329-154135448	NB4	blood:	n/a	chr5:154134523-154134532 chr5:154134538-154134548 chr5:154134657-154134668 chr5:154134656-154134669 chr5:154133516-154133527 chr5:154134650-154134659 chr5:154133517-154133526 chr5:154133518-154133525 chr5:154134657-154134668 chr5:154134658-154134667
35	IRF3	chr5:154133452-154133982	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr5:154132523-154137276	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr5:154133301-154137247	K562	blood:	n/a	n/a
38	MYC	chr5:154133165-154135603	A549	lung:	n/a	chr5:154134523-154134532 chr5:154134538-154134548 chr5:154134657-154134668 chr5:154134656-154134669 chr5:154133516-154133527 chr5:154134650-154134659 chr5:154133517-154133526 chr5:154133518-154133525 chr5:154134657-154134668 chr5:154134658-154134667
39	ZNF274	chr5:154133368-154133926	K562	blood:	n/a	n/a
40	PML	chr5:154133557-154135462	GM12878	blood:	n/a	chr5:154134604-154134612
41	USF2	chr5:154132534-154134847	Hela-S3	cervix:	n/a	chr5:154134276-154134292 chr5:154134658-154134667 chr5:154134658-154134667 chr5:154134657-154134666
42	POLR2A	chr5:154132815-154134803	K562	blood:	n/a	n/a
43	GTF2F1	chr5:154133204-154134799	Hela-S3	cervix:	n/a	n/a
44	TBP	chr5:154133314-154134802	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr5:154133298-154134784	SK-N-MC	brain:	n/a	n/a
46	POLR2A	chr5:154133681-154137295	GM12878	blood:	n/a	n/a
47	JUN	chr5:154133446-154137312	K562	blood:	n/a	chr5:154135300-154135309 chr5:154135301-154135310 chr5:154136541-154136550 chr5:154136802-154136816
48	POLR2A	chr5:154133327-154137362	NB4	blood:	n/a	n/a
49	RFX5	chr5:154133373-154134902	Hela-S3	cervix:	n/a	n/a
50	STAT3	chr5:154133480-154133900	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:154114978..154117402-chr5:154132990..154134533,2	MCF-7	breast:
2	chr5:154059571..154067369-chr5:154132796..154138140,13	K562	blood:
3	chr5:154091014..154094062-chr5:154133007..154138054,7	MCF-7	breast:
4	chr5:154090008..154095548-chr5:154132332..154137735,10	MCF-7	breast:
5	chr5:154106800..154109528-chr5:154133013..154134653,2	K562	blood:
6	chr5:154133318..154137368-chr5:154208082..154212477,8	MCF-7	breast:
7	chr5:154059219..154066449-chr5:154131053..154139153,28	MCF-7	breast:
8	chr5:154133591..154135701-chr5:179497285..179498805,3	MCF-7	breast:
9	chr5:154079413..154083903-chr5:154131964..154138437,9	MCF-7	breast:
10	chr5:154133224..154141155-chr5:154235246..154242227,24	MCF-7	breast:
11	chr5:154054874..154057570-chr5:154132622..154134440,2	MCF-7	breast:
12	chr5:154122459..154125303-chr5:154131772..154134458,2	MCF-7	breast:
13	chr5:154131390..154134045-chr5:154222442..154224295,2	MCF-7	breast:
14	chr5:154120997..154122721-chr5:154132198..154134766,2	K562	blood:
15	chr5:154108106..154110806-chr5:154133073..154135320,2	K562	blood:
16	chr5:154133665..154137234-chr5:154235811..154241105,6	MCF-7	breast:
17	chr5:154133563..154137747-chr5:154235219..154239187,9	K562	blood:
18	chr5:154133441..154135046-chr5:154198681..154200668,2	MCF-7	breast:
19	chr5:154107670..154109549-chr5:154132494..154135385,2	MCF-7	breast:
20	chr5:154133598..154138734-chr5:154235660..154239806,12	K562	blood:
21	chr5:154133384..154135677-chr5:154316370..154317979,2	MCF-7	breast:
22	chr5:154133720..154135863-chr5:154214585..154216471,2	K562	blood:
23	chr2:241938134..241939654-chr5:154133580..154135809,2	K562	blood:

Variant related genes	Relation type
LARP1	TF binding region
ENSG00000221552	Chromatin interaction
ENSG00000263361	Chromatin interaction
ENSG00000241187	Chromatin interaction
ENSG00000170271	Chromatin interaction
ENSG00000113269	Chromatin interaction
ENSG00000162804	Chromatin interaction
ENSG00000082516	Chromatin interaction
ENSG00000263478	Chromatin interaction
ENSG00000155508	Chromatin interaction
ENSG00000155506	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021153	chr5:154099869-154147970	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	esv3406300	chr5:154133209-154138557	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
3	esv3442367	chr5:154133259-154137657	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154129200-154134000	Weak transcription	Aorta	Aorta
2	chr5:154132000-154134200	Enhancers	HepG2	liver
3	chr5:154132400-154133800	Enhancers	Fetal Muscle Trunk	muscle
4	chr5:154132600-154133800	Enhancers	H9 Cell Line	embryonic stem cell
5	chr5:154132600-154133800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:154132600-154133800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:154132600-154133800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:154132600-154133800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr5:154132600-154133800	Enhancers	Fetal Muscle Leg	muscle
10	chr5:154132600-154133800	Enhancers	Fetal Stomach	stomach
11	chr5:154132600-154133800	Enhancers	Right Ventricle	heart
12	chr5:154132600-154134000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:154132600-154134000	Enhancers	Left Ventricle	heart
14	chr5:154132600-154134000	Enhancers	Pancreas	Pancrea
15	chr5:154132600-154134200	Enhancers	Gastric	stomach
16	chr5:154132600-154134600	Enhancers	Fetal Heart	heart
17	chr5:154132800-154133800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:154132800-154133800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:154132800-154133800	Enhancers	Fetal Intestine Large	intestine
20	chr5:154132800-154134000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr5:154132800-154134000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr5:154132800-154134000	Enhancers	Liver	Liver
23	chr5:154133000-154133800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:154133000-154133800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:154133000-154133800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:154133000-154133800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr5:154133000-154133800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:154133000-154133800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr5:154133000-154133800	Enhancers	Fetal Intestine Small	intestine
30	chr5:154133000-154133800	Enhancers	Right Atrium	heart
31	chr5:154133000-154133800	Enhancers	NHDF-Ad	bronchial
32	chr5:154133000-154134000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:154133000-154134000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:154133000-154134000	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr5:154133000-154134000	Flanking Active TSS	GM12878-XiMat	blood
36	chr5:154133000-154134200	Flanking Active TSS	Fetal Lung	lung
37	chr5:154133000-154134200	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr5:154133000-154134400	Flanking Active TSS	K562	blood
39	chr5:154133000-154134600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr5:154133000-154134600	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr5:154133200-154133800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr5:154133200-154133800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:154133200-154133800	Enhancers	Primary B cells from peripheral blood	blood
44	chr5:154133200-154133800	Enhancers	Primary T cells fromperipheralblood	blood
45	chr5:154133200-154133800	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr5:154133200-154133800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr5:154133200-154133800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:154133200-154133800	Enhancers	Colonic Mucosa	Colon
49	chr5:154133200-154133800	Enhancers	Fetal Thymus	thymus
50	chr5:154133200-154133800	Enhancers	Thymus	Thymus

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