Variant report

Variant	rs115187928
Chromosome Location	chr5:154133210-154133211
allele	A/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	POLR2A	chr5:154133143-154136943	K562	blood:	n/a	n/a
2	KAP1	chr5:154133069-154134713	HEK293	kidney:	n/a	chr5:154134604-154134612
3	MXI1	chr5:154132804-154137423	IMR90	lung:	n/a	n/a
4	POLR2A	chr5:154133174-154137235	Raji	blood:	n/a	n/a
5	POLR2A	chr5:154133080-154137254	K562	blood:	n/a	n/a
6	POLR2A	chr5:154133099-154137349	GM12878	blood:	n/a	n/a
7	MAX	chr5:154133192-154133689	ECC-1	luminal epithelium:	n/a	chr5:154133516-154133527 chr5:154133517-154133526 chr5:154133518-154133525
8	POLR2A	chr5:154133006-154133677	PANC-1	pancreas:	n/a	n/a
9	CHD1	chr5:154133024-154137347	IMR90	lung:	n/a	chr5:154134738-154134748 chr5:154134289-154134299 chr5:154134663-154134673 chr5:154134733-154134743
10	POLR2A	chr5:154133088-154133742	GM12892	blood:	n/a	n/a
11	TEAD4	chr5:154133163-154133850	K562	blood:	n/a	n/a
12	POLR2A	chr5:154133128-154136602	PFSK-1	brain:	n/a	n/a
13	TBL1XR1	chr5:154133142-154134819	K562	blood:	n/a	n/a
14	RCOR1	chr5:154133103-154135011	IMR90	lung:	n/a	n/a
15	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
16	POLR2A	chr5:154132523-154137276	Hela-S3	cervix:	n/a	n/a
17	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
18	USF2	chr5:154132534-154134847	Hela-S3	cervix:	n/a	chr5:154134276-154134292 chr5:154134658-154134667 chr5:154134658-154134667 chr5:154134657-154134666
19	POLR2A	chr5:154132815-154134803	K562	blood:	n/a	n/a
20	GTF2F1	chr5:154133204-154134799	Hela-S3	cervix:	n/a	n/a
21	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
22	POLR2A	chr5:154132998-154137122	GM12892	blood:	n/a	n/a
23	POLR2A	chr5:154132945-154138277	GM12878	blood:	n/a	n/a
24	POLR2A	chr5:154132904-154137276	MCF10A-Er-Src	breast:	n/a	n/a
25	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
26	POLR2A	chr5:154133163-154137191	HCT-116	colon:	n/a	n/a
27	POLR2A	chr5:154132832-154138324	GM12891	blood:	n/a	n/a
28	MXI1	chr5:154133001-154138607	SK-N-SH	brain:	n/a	n/a
29	HCFC1	chr5:154132860-154137367	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr5:154133152-154137085	K562	blood:	n/a	n/a
31	POLR2A	chr5:154133097-154133712	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr5:154132939-154137333	SK-N-MC	brain:	n/a	n/a
33	POLR2A	chr5:154133055-154136998	HCT-116	colon:	n/a	n/a
34	ZNF263	chr5:154133024-154134904	HEK293-T-REx	kidney:	n/a	n/a
35	POLR2A	chr5:154133008-154137297	MCF10A-Er-Src	breast:	n/a	n/a
36	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	chr5:154072065..154073573-chr5:154131263..154133221,2	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
ENSG00000263478	Chromatin interaction
ENSG00000221552	Chromatin interaction
ENSG00000155506	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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