Variant report

Variant	rs148789478
Chromosome Location	chr5:154133999-154134000
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	WRNIP1	chr5:154133876-154134738	GM12878	blood:	n/a	n/a
2	TCF12	chr5:154133420-154136643	A549	lung:	n/a	chr5:154133494-154133502 chr5:154134317-154134324
3	MYC	chr5:154133822-154136192	K562	blood:	n/a	chr5:154134523-154134532 chr5:154134538-154134548 chr5:154134657-154134668 chr5:154134656-154134669 chr5:154134650-154134659 chr5:154134657-154134668 chr5:154134658-154134667
4	POLR2A	chr5:154133997-154135429	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr5:154133143-154136943	K562	blood:	n/a	n/a
6	POLR2A	chr5:154133745-154137338	PANC-1	pancreas:	n/a	n/a
7	MAX	chr5:154133989-154135108	H1-hESC	embryonic stem cell:	n/a	chr5:154134523-154134532 chr5:154134538-154134548 chr5:154134657-154134668 chr5:154134656-154134669 chr5:154134650-154134659 chr5:154134657-154134668 chr5:154134658-154134667
8	KAP1	chr5:154133069-154134713	HEK293	kidney:	n/a	chr5:154134604-154134612
9	BHLHE40	chr5:154133828-154135379	GM12878	blood:	n/a	chr5:154134276-154134292 chr5:154134658-154134667 chr5:154134658-154134667 chr5:154134657-154134666
10	POLR2A	chr5:154133986-154134726	GM12892	blood:	n/a	n/a
11	ELF1	chr5:154133942-154137066	GM12878	blood:	n/a	chr5:154135952-154135964 chr5:154134375-154134387 chr5:154135789-154135802 chr5:154136215-154136227
12	POLR2A	chr5:154133940-154137103	K562	blood:	n/a	n/a
13	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
14	MXI1	chr5:154132804-154137423	IMR90	lung:	n/a	n/a
15	POLR2A	chr5:154133358-154135811	HEK293	kidney:	n/a	n/a
16	POLR2A	chr5:154133873-154137159	K562	blood:	n/a	n/a
17	TRIM28	chr5:154133994-154134922	K562	blood:	n/a	chr5:154134604-154134612
18	JUND	chr5:154133417-154134014	K562	blood:	n/a	n/a
19	POLR2A	chr5:154133174-154137235	Raji	blood:	n/a	n/a
20	MXI1	chr5:154133886-154137235	GM12878	blood:	n/a	n/a
21	FOXM1	chr5:154133906-154134958	GM12878	blood:	n/a	n/a
22	SIN3A	chr5:154133973-154138883	H1-hESC	embryonic stem cell:	n/a	chr5:154136477-154136488 chr5:154134277-154134290
23	POLR2A	chr5:154133868-154137145	K562	blood:	n/a	n/a
24	POLR2A	chr5:154133576-154135735	HUVEC	blood vessel:	n/a	n/a
25	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
26	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
27	POLR2A	chr5:154133080-154137254	K562	blood:	n/a	n/a
28	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
29	ZNF384	chr5:154133933-154134852	K562	blood:	n/a	n/a
30	MAX	chr5:154133868-154134786	K562	blood:	n/a	chr5:154134523-154134532 chr5:154134538-154134548 chr5:154134657-154134668 chr5:154134656-154134669 chr5:154134650-154134659 chr5:154134657-154134668 chr5:154134658-154134667
31	POLR2A	chr5:154133625-154136902	HUVEC	blood vessel:	n/a	n/a
32	CHD2	chr5:154133943-154136958	Hela-S3	cervix:	n/a	chr5:154134738-154134748 chr5:154134289-154134299 chr5:154134663-154134673 chr5:154134733-154134743
33	POLR2A	chr5:154133099-154137349	GM12878	blood:	n/a	n/a
34	POLR2A	chr5:154133905-154137050	ECC-1	luminal epithelium:	n/a	n/a
35	CBX3	chr5:154133941-154134873	K562	blood:	n/a	n/a
36	SMC3	chr5:154133414-154134899	Hela-S3	cervix:	n/a	n/a
37	TBP	chr5:154133933-154137199	K562	blood:	n/a	n/a
38	POLR2A	chr5:154133767-154134723	HUVEC	blood vessel:	n/a	n/a
39	E2F6	chr5:154133974-154136118	K562	blood:	n/a	chr5:154134136-154134145 chr5:154134202-154134212 chr5:154135302-154135311
40	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
41	CHD1	chr5:154133024-154137347	IMR90	lung:	n/a	chr5:154134738-154134748 chr5:154134289-154134299 chr5:154134663-154134673 chr5:154134733-154134743
42	MAX	chr5:154133902-154135635	ECC-1	luminal epithelium:	n/a	chr5:154134523-154134532 chr5:154134538-154134548 chr5:154134657-154134668 chr5:154134656-154134669 chr5:154134650-154134659 chr5:154134657-154134668 chr5:154134658-154134667
43	MAX	chr5:154133923-154137265	K562	blood:	n/a	chr5:154136511-154136521 chr5:154134523-154134532 chr5:154134538-154134548 chr5:154134657-154134668 chr5:154134656-154134669 chr5:154136963-154136973 chr5:154134650-154134659 chr5:154136730-154136740 chr5:154134657-154134668 chr5:154134658-154134667
44	CHD2	chr5:154133851-154135281	GM12878	blood:	n/a	chr5:154134738-154134748 chr5:154134289-154134299 chr5:154134663-154134673 chr5:154134733-154134743
45	POLR2A	chr5:154133810-154135836	GM12892	blood:	n/a	n/a
46	POLR2A	chr5:154133277-154137092	GM19099	blood:	n/a	n/a
47	E2F6	chr5:154133907-154135041	H1-hESC	embryonic stem cell:	n/a	chr5:154134136-154134145 chr5:154134202-154134212
48	TEAD4	chr5:154133914-154134784	K562	blood:	n/a	n/a
49	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
50	POLR2A	chr5:154133128-154136602	PFSK-1	brain:	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	chr5:154133833..154138436-chr5:154316104..154319386,7	K562	blood:
6	chr5:154106800..154109528-chr5:154133013..154134653,2	K562	blood:
7	chr5:154133318..154137368-chr5:154208082..154212477,8	MCF-7	breast:
8	chr5:154059219..154066449-chr5:154131053..154139153,28	MCF-7	breast:
9	chr5:154133591..154135701-chr5:179497285..179498805,3	MCF-7	breast:
10	chr5:154079413..154083903-chr5:154131964..154138437,9	MCF-7	breast:
11	chr5:154133224..154141155-chr5:154235246..154242227,24	MCF-7	breast:
12	chr5:154054874..154057570-chr5:154132622..154134440,2	MCF-7	breast:
13	chr5:154122459..154125303-chr5:154131772..154134458,2	MCF-7	breast:
14	chr5:154131390..154134045-chr5:154222442..154224295,2	MCF-7	breast:
15	chr5:154120997..154122721-chr5:154132198..154134766,2	K562	blood:
16	chr5:154108106..154110806-chr5:154133073..154135320,2	K562	blood:
17	chr5:154133665..154137234-chr5:154235811..154241105,6	MCF-7	breast:
18	chr5:154133563..154137747-chr5:154235219..154239187,9	K562	blood:
19	chr5:154133441..154135046-chr5:154198681..154200668,2	MCF-7	breast:
20	chr5:154107670..154109549-chr5:154132494..154135385,2	MCF-7	breast:
21	chr5:154133598..154138734-chr5:154235660..154239806,12	K562	blood:
22	chr5:154133384..154135677-chr5:154316370..154317979,2	MCF-7	breast:
23	chr5:154133984..154137613-chr5:154316996..154320177,4	K562	blood:
24	chr17:39844723..39845400-chr5:154133976..154134932,2	Hela-S3	cervix:
25	chr5:154133720..154135863-chr5:154214585..154216471,2	K562	blood:
26	chr2:241938134..241939654-chr5:154133580..154135809,2	K562	blood:

Variant related genes	Relation type
LARP1	TF binding region
ENSG00000162804	Chromatin interaction
ENSG00000170271	Chromatin interaction
ENSG00000155506	Chromatin interaction
ENSG00000263478	Chromatin interaction
ENSG00000082516	Chromatin interaction
ENSG00000173812	Chromatin interaction
ENSG00000113269	Chromatin interaction
ENSG00000263361	Chromatin interaction
ENSG00000155508	Chromatin interaction
ENSG00000241187	Chromatin interaction
ENSG00000221552	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv3371359	chr5:154133784-154136632	Active TSS Flanking Active TSS Enhancers 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:125 , 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	chr5:154132600-154134000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:154132600-154134000	Enhancers	Left Ventricle	heart
5	chr5:154132600-154134000	Enhancers	Pancreas	Pancrea
6	chr5:154132600-154134200	Enhancers	Gastric	stomach
7	chr5:154132600-154134600	Enhancers	Fetal Heart	heart
8	chr5:154132800-154134000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr5:154132800-154134000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:154132800-154134000	Enhancers	Liver	Liver
11	chr5:154133000-154134000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:154133000-154134000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:154133000-154134000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr5:154133000-154134000	Flanking Active TSS	GM12878-XiMat	blood
15	chr5:154133000-154134200	Flanking Active TSS	Fetal Lung	lung
16	chr5:154133000-154134200	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr5:154133000-154134400	Flanking Active TSS	K562	blood
18	chr5:154133000-154134600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr5:154133000-154134600	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr5:154133200-154134000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:154133200-154134000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:154133200-154134000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr5:154133200-154134000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:154133200-154134000	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr5:154133200-154134000	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr5:154133200-154134000	Enhancers	Placenta	Placenta
27	chr5:154133200-154134000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr5:154133200-154134200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:154133200-154134200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:154133200-154134200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:154133200-154134200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr5:154133200-154134200	Flanking Active TSS	A549	lung
33	chr5:154133200-154134200	Flanking Active TSS	Dnd41	blood
34	chr5:154133200-154134200	Flanking Active TSS	Hela-S3	cervix
35	chr5:154133200-154134400	Active TSS	Fetal Brain Male	brain
36	chr5:154133200-154134400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr5:154133200-154134400	Flanking Active TSS	HSMMtube	muscle
38	chr5:154133200-154134400	Flanking Active TSS	NHEK	skin
39	chr5:154133200-154134600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr5:154133200-154134600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr5:154133200-154134600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr5:154133200-154134600	Flanking Active TSS	NH-A	brain
43	chr5:154133200-154134600	Flanking Active TSS	NHLF	lung
44	chr5:154133400-154134000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:154133400-154134000	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr5:154133400-154134000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:154133400-154134000	Flanking Active TSS	Fetal Brain Female	brain
48	chr5:154133400-154134000	Flanking Active TSS	Fetal Kidney	kidney
49	chr5:154133400-154134000	Weak transcription	Ovary	ovary
50	chr5:154133400-154134000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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