Variant report

Variant	rs548980604
Chromosome Location	chr5:154134112-154134113
allele	A/C
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	GTF2F1	chr5:154134075-154134732	K562	blood:	n/a	n/a
6	POLR2A	chr5:154133143-154136943	K562	blood:	n/a	n/a
7	SIN3A	chr5:154134089-154134760	GM12878	blood:	n/a	chr5:154134277-154134290
8	UBTF	chr5:154134102-154136984	K562	blood:	n/a	n/a
9	TAF1	chr5:154134058-154135376	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:154134056-154135301	GM12878	blood:	n/a	n/a
11	POLR2A	chr5:154133745-154137338	PANC-1	pancreas:	n/a	n/a
12	MYC	chr5:154134079-154136080	Hela-S3	cervix:	n/a	chr5:154134523-154134532 chr5:154134538-154134548 chr5:154134657-154134668 chr5:154134656-154134669 chr5:154134650-154134659 chr5:154134657-154134668 chr5:154134658-154134667
13	RFX5	chr5:154134065-154134221	GM12878	blood:	n/a	n/a
14	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
15	KAP1	chr5:154133069-154134713	HEK293	kidney:	n/a	chr5:154134604-154134612
16	BHLHE40	chr5:154133828-154135379	GM12878	blood:	n/a	chr5:154134276-154134292 chr5:154134658-154134667 chr5:154134658-154134667 chr5:154134657-154134666
17	MAZ	chr5:154134036-154137243	GM12878	blood:	n/a	chr5:154136511-154136521 chr5:154134523-154134532 chr5:154134657-154134668 chr5:154134656-154134669 chr5:154136963-154136973 chr5:154134650-154134659 chr5:154136730-154136740 chr5:154134657-154134668 chr5:154134658-154134667
18	POLR2A	chr5:154133986-154134726	GM12892	blood:	n/a	n/a
19	EP300	chr5:154134051-154134982	ECC-1	luminal epithelium:	n/a	chr5:154134558-154134574 chr5:154134283-154134299 chr5:154134391-154134400
20	ELF1	chr5:154133942-154137066	GM12878	blood:	n/a	chr5:154135952-154135964 chr5:154134375-154134387 chr5:154135789-154135802 chr5:154136215-154136227
21	POLR2A	chr5:154133940-154137103	K562	blood:	n/a	n/a
22	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
23	RELA	chr5:154134091-154134914	GM18951	blood:	n/a	n/a
24	MXI1	chr5:154132804-154137423	IMR90	lung:	n/a	n/a
25	POLR2A	chr5:154134011-154134730	GM12892	blood:	n/a	n/a
26	ELK1	chr5:154134081-154134235	GM12878	blood:	n/a	n/a
27	POLR2A	chr5:154133358-154135811	HEK293	kidney:	n/a	n/a
28	POLR2A	chr5:154133873-154137159	K562	blood:	n/a	n/a
29	TRIM28	chr5:154133994-154134922	K562	blood:	n/a	chr5:154134604-154134612
30	SP1	chr5:154134065-154134823	H1-hESC	embryonic stem cell:	n/a	chr5:154134384-154134396 chr5:154134732-154134742 chr5:154134731-154134743 chr5:154134740-154134754 chr5:154134143-154134157 chr5:154134733-154134742 chr5:154134732-154134741 chr5:154134689-154134703 chr5:154134732-154134742 chr5:154134731-154134743 chr5:154134733-154134742 chr5:154134728-154134742 chr5:154134727-154134740 chr5:154134385-154134394
31	POLR2A	chr5:154134057-154137015	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr5:154133174-154137235	Raji	blood:	n/a	n/a
33	MXI1	chr5:154133886-154137235	GM12878	blood:	n/a	n/a
34	FOXM1	chr5:154133906-154134958	GM12878	blood:	n/a	n/a
35	SIN3A	chr5:154133973-154138883	H1-hESC	embryonic stem cell:	n/a	chr5:154136477-154136488 chr5:154134277-154134290
36	POLR2A	chr5:154133868-154137145	K562	blood:	n/a	n/a
37	POLR2A	chr5:154134101-154137056	MCF-7	breast:	n/a	n/a
38	TCF7L2	chr5:154134029-154136089	HCT-116	colon:	n/a	n/a
39	POLR2A	chr5:154133576-154135735	HUVEC	blood vessel:	n/a	n/a
40	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
41	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
42	POLR2A	chr5:154133080-154137254	K562	blood:	n/a	n/a
43	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
44	ZNF384	chr5:154133933-154134852	K562	blood:	n/a	n/a
45	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
46	REST	chr5:154134025-154136593	H1-neurons	neurons:	n/a	chr5:154134277-154134290 chr5:154134592-154134605 chr5:154135833-154135846 chr5:154135770-154135783 chr5:154134736-154134749
47	POLR2A	chr5:154133625-154136902	HUVEC	blood vessel:	n/a	n/a
48	E2F6	chr5:154134098-154135003	K562	blood:	n/a	chr5:154134136-154134145 chr5:154134202-154134212
49	CHD2	chr5:154133943-154136958	Hela-S3	cervix:	n/a	chr5:154134738-154134748 chr5:154134289-154134299 chr5:154134663-154134673 chr5:154134733-154134743
50	MAX	chr5:154134085-154134980	A549	lung:	n/a	chr5:154134523-154134532 chr5:154134538-154134548 chr5:154134657-154134668 chr5:154134656-154134669 chr5:154134650-154134659 chr5:154134657-154134668 chr5:154134658-154134667

No.	Distal block	Cell Line	Cell type
1	chr5:154114978..154117402-chr5:154132990..154134533,2	MCF-7	breast:
2	chr1:149857405..149859778-chr5:154134028..154135572,2	MCF-7	breast:
3	chr5:154059571..154067369-chr5:154132796..154138140,13	K562	blood:
4	chr5:154091014..154094062-chr5:154133007..154138054,7	MCF-7	breast:
5	chr19:34286193..34287142-chr5:154134023..154134959,2	Hela-S3	cervix:
6	chr5:154134100..154134844-chr7:112758082..112758656,2	Hela-S3	cervix:
7	chr5:154090008..154095548-chr5:154132332..154137735,10	MCF-7	breast:
8	chr5:154133833..154138436-chr5:154316104..154319386,7	K562	blood:
9	chr5:154106800..154109528-chr5:154133013..154134653,2	K562	blood:
10	chr5:154133318..154137368-chr5:154208082..154212477,8	MCF-7	breast:
11	chr5:154059219..154066449-chr5:154131053..154139153,28	MCF-7	breast:
12	chr5:154133591..154135701-chr5:179497285..179498805,3	MCF-7	breast:
13	chr5:154079413..154083903-chr5:154131964..154138437,9	MCF-7	breast:
14	chr11:118955268..118955808-chr5:154134105..154134835,2	HCT-116	colon:
15	chr5:154133224..154141155-chr5:154235246..154242227,24	MCF-7	breast:
16	chr5:154054874..154057570-chr5:154132622..154134440,2	MCF-7	breast:
17	chr5:154122459..154125303-chr5:154131772..154134458,2	MCF-7	breast:
18	chr17:59475759..59478103-chr5:154134019..154136422,2	MCF-7	breast:
19	chr5:154120997..154122721-chr5:154132198..154134766,2	K562	blood:
20	chr5:154108106..154110806-chr5:154133073..154135320,2	K562	blood:
21	chr5:154133665..154137234-chr5:154235811..154241105,6	MCF-7	breast:
22	chr5:154133563..154137747-chr5:154235219..154239187,9	K562	blood:
23	chr5:154133441..154135046-chr5:154198681..154200668,2	MCF-7	breast:
24	chr5:154107670..154109549-chr5:154132494..154135385,2	MCF-7	breast:
25	chr5:154133598..154138734-chr5:154235660..154239806,12	K562	blood:
26	chr5:154133384..154135677-chr5:154316370..154317979,2	MCF-7	breast:
27	chr5:154133984..154137613-chr5:154316996..154320177,4	K562	blood:
28	chr17:39844723..39845400-chr5:154133976..154134932,2	Hela-S3	cervix:
29	chr5:154133720..154135863-chr5:154214585..154216471,2	K562	blood:
30	chr2:241938134..241939654-chr5:154133580..154135809,2	K562	blood:

Variant related genes	Relation type
LARP1	TF binding region
ENSG00000184270	Chromatin interaction
ENSG00000113269	Chromatin interaction
ENSG00000221552	Chromatin interaction
ENSG00000153885	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000263478	Chromatin interaction
ENSG00000214194	Chromatin interaction
ENSG00000155506	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000082516	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000162804	Chromatin interaction
ENSG00000263361	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000170271	Chromatin interaction
ENSG00000256269	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000155508	Chromatin interaction
ENSG00000173812	Chromatin interaction
ENSG00000241187	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3375024	chr5:154134009-154135957	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	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	chr5:154132000-154134200	Enhancers	HepG2	liver
2	chr5:154132600-154134200	Enhancers	Gastric	stomach
3	chr5:154132600-154134600	Enhancers	Fetal Heart	heart
4	chr5:154133000-154134200	Flanking Active TSS	Fetal Lung	lung
5	chr5:154133000-154134200	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr5:154133000-154134400	Flanking Active TSS	K562	blood
7	chr5:154133000-154134600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr5:154133000-154134600	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr5:154133200-154134200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:154133200-154134200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:154133200-154134200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:154133200-154134200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr5:154133200-154134200	Flanking Active TSS	A549	lung
14	chr5:154133200-154134200	Flanking Active TSS	Dnd41	blood
15	chr5:154133200-154134200	Flanking Active TSS	Hela-S3	cervix
16	chr5:154133200-154134400	Active TSS	Fetal Brain Male	brain
17	chr5:154133200-154134400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr5:154133200-154134400	Flanking Active TSS	HSMMtube	muscle
19	chr5:154133200-154134400	Flanking Active TSS	NHEK	skin
20	chr5:154133200-154134600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr5:154133200-154134600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr5:154133200-154134600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr5:154133200-154134600	Flanking Active TSS	NH-A	brain
24	chr5:154133200-154134600	Flanking Active TSS	NHLF	lung
25	chr5:154133400-154134200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:154133400-154134200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr5:154133400-154134400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:154133400-154134400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:154133400-154134600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:154133400-154134600	Flanking Active TSS	HSMM	muscle
31	chr5:154133400-154137200	Active TSS	Lung	lung
32	chr5:154133600-154134200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:154133600-154134200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr5:154133600-154134200	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr5:154133600-154134200	Weak transcription	Spleen	Spleen
36	chr5:154133600-154134400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:154133600-154134400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:154133600-154134400	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr5:154133600-154134400	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr5:154133600-154134600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr5:154133600-154134600	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr5:154133600-154134600	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr5:154133600-154134600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr5:154133600-154134600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:154133600-154134600	Flanking Active TSS	HMEC	breast
46	chr5:154133600-154135800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:154133600-154137600	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr5:154133800-154134200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:154133800-154134200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr5:154133800-154134200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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