Variant report

Variant	rs149364112
Chromosome Location	chr5:154133241-154133242
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	ZC3H11A	chr5:154133237-154133761	K562	blood:	n/a	n/a
2	POLR2A	chr5:154133143-154136943	K562	blood:	n/a	n/a
3	KAP1	chr5:154133069-154134713	HEK293	kidney:	n/a	chr5:154134604-154134612
4	MXI1	chr5:154132804-154137423	IMR90	lung:	n/a	n/a
5	POLR2A	chr5:154133174-154137235	Raji	blood:	n/a	n/a
6	POLR2A	chr5:154133080-154137254	K562	blood:	n/a	n/a
7	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
8	POLR2A	chr5:154133099-154137349	GM12878	blood:	n/a	n/a
9	MAX	chr5:154133233-154133703	K562	blood:	n/a	chr5:154133516-154133527 chr5:154133517-154133526 chr5:154133518-154133525
10	MAX	chr5:154133192-154133689	ECC-1	luminal epithelium:	n/a	chr5:154133516-154133527 chr5:154133517-154133526 chr5:154133518-154133525
11	POLR2A	chr5:154133006-154133677	PANC-1	pancreas:	n/a	n/a
12	CHD1	chr5:154133024-154137347	IMR90	lung:	n/a	chr5:154134738-154134748 chr5:154134289-154134299 chr5:154134663-154134673 chr5:154134733-154134743
13	POLR2A	chr5:154133088-154133742	GM12892	blood:	n/a	n/a
14	TEAD4	chr5:154133163-154133850	K562	blood:	n/a	n/a
15	POLR2A	chr5:154133128-154136602	PFSK-1	brain:	n/a	n/a
16	TBL1XR1	chr5:154133142-154134819	K562	blood:	n/a	n/a
17	RCOR1	chr5:154133103-154135011	IMR90	lung:	n/a	n/a
18	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
19	POLR2A	chr5:154132523-154137276	Hela-S3	cervix:	n/a	n/a
20	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
21	USF2	chr5:154132534-154134847	Hela-S3	cervix:	n/a	chr5:154134276-154134292 chr5:154134658-154134667 chr5:154134658-154134667 chr5:154134657-154134666
22	POLR2A	chr5:154132815-154134803	K562	blood:	n/a	n/a
23	GTF2F1	chr5:154133204-154134799	Hela-S3	cervix:	n/a	n/a
24	MYC	chr5:154133104-154134942	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
25	POLR2A	chr5:154132998-154137122	GM12892	blood:	n/a	n/a
26	POLR2A	chr5:154132945-154138277	GM12878	blood:	n/a	n/a
27	POLR2A	chr5:154133240-154137130	GM19193	blood:	n/a	n/a
28	POLR2A	chr5:154132904-154137276	MCF10A-Er-Src	breast:	n/a	n/a
29	MAZ	chr5:154132991-154137212	IMR90	lung:	n/a	chr5:154136511-154136521 chr5:154134523-154134532 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
30	POLR2A	chr5:154133163-154137191	HCT-116	colon:	n/a	n/a
31	POLR2A	chr5:154132832-154138324	GM12891	blood:	n/a	n/a
32	MXI1	chr5:154133001-154138607	SK-N-SH	brain:	n/a	n/a
33	HCFC1	chr5:154132860-154137367	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr5:154133152-154137085	K562	blood:	n/a	n/a
35	POLR2A	chr5:154133097-154133712	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr5:154132939-154137333	SK-N-MC	brain:	n/a	n/a
37	POLR2A	chr5:154133055-154136998	HCT-116	colon:	n/a	n/a
38	MAX	chr5:154133236-154135682	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
39	ZNF263	chr5:154133024-154134904	HEK293-T-REx	kidney:	n/a	n/a
40	POLR2A	chr5:154133008-154137297	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr5:154133237-154133727	Hela-S3	cervix:	n/a	n/a
42	WRNIP1	chr5:154133150-154133581	GM12878	blood:	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	chr5:154059219..154066449-chr5:154131053..154139153,28	MCF-7	breast:
7	chr5:154079413..154083903-chr5:154131964..154138437,9	MCF-7	breast:
8	chr5:154133224..154141155-chr5:154235246..154242227,24	MCF-7	breast:
9	chr5:154054874..154057570-chr5:154132622..154134440,2	MCF-7	breast:
10	chr5:154122459..154125303-chr5:154131772..154134458,2	MCF-7	breast:
11	chr5:154062284..154064360-chr5:154130861..154133550,2	MCF-7	breast:
12	chr5:154131390..154134045-chr5:154222442..154224295,2	MCF-7	breast:
13	chr5:154120997..154122721-chr5:154132198..154134766,2	K562	blood:
14	chr5:154108106..154110806-chr5:154133073..154135320,2	K562	blood:
15	chr5:154107670..154109549-chr5:154132494..154135385,2	MCF-7	breast:

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

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154119600-154133400	Weak transcription	Lung	lung
2	chr5:154129000-154133400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:154129200-154133400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:154129200-154134000	Weak transcription	Aorta	Aorta
5	chr5:154132000-154134200	Enhancers	HepG2	liver
6	chr5:154132400-154133800	Enhancers	Fetal Muscle Trunk	muscle
7	chr5:154132600-154133400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:154132600-154133800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr5:154132600-154133800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:154132600-154133800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:154132600-154133800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:154132600-154133800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr5:154132600-154133800	Enhancers	Fetal Muscle Leg	muscle
14	chr5:154132600-154133800	Enhancers	Fetal Stomach	stomach
15	chr5:154132600-154133800	Enhancers	Right Ventricle	heart
16	chr5:154132600-154134000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:154132600-154134000	Enhancers	Left Ventricle	heart
18	chr5:154132600-154134000	Enhancers	Pancreas	Pancrea
19	chr5:154132600-154134200	Enhancers	Gastric	stomach
20	chr5:154132600-154134600	Enhancers	Fetal Heart	heart
21	chr5:154132800-154133400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:154132800-154133400	Enhancers	Fetal Brain Female	brain
23	chr5:154132800-154133400	Enhancers	Fetal Kidney	kidney
24	chr5:154132800-154133400	Enhancers	Ovary	ovary
25	chr5:154132800-154133400	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr5:154132800-154133600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:154132800-154133600	Enhancers	Psoas Muscle	Psoas
28	chr5:154132800-154133800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr5:154132800-154133800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr5:154132800-154133800	Enhancers	Fetal Intestine Large	intestine
31	chr5:154132800-154134000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr5:154132800-154134000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr5:154132800-154134000	Enhancers	Liver	Liver
34	chr5:154133000-154133400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr5:154133000-154133400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr5:154133000-154133400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:154133000-154133400	Enhancers	HSMM	muscle
38	chr5:154133000-154133600	Enhancers	Primary T cells from cord blood	blood
39	chr5:154133000-154133800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:154133000-154133800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:154133000-154133800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr5:154133000-154133800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr5:154133000-154133800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:154133000-154133800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr5:154133000-154133800	Enhancers	Fetal Intestine Small	intestine
46	chr5:154133000-154133800	Enhancers	Right Atrium	heart
47	chr5:154133000-154133800	Enhancers	NHDF-Ad	bronchial
48	chr5:154133000-154134000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:154133000-154134000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr5:154133000-154134000	Enhancers	Pancreatic Islets	Pancreatic Islet

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