Variant report

Variant	rs544723716
Chromosome Location	chr5:154134367-154134368
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	CEBPB	chr5:154134299-154134943	A549	lung:	n/a	n/a
2	YY1	chr5:154134135-154135991	ECC-1	luminal epithelium:	n/a	chr5:154135832-154135846 chr5:154134391-154134400 chr5:154135945-154135959
3	WRNIP1	chr5:154133876-154134738	GM12878	blood:	n/a	n/a
4	RAD21	chr5:154134324-154134908	MCF-7	breast:	n/a	n/a
5	YY1	chr5:154134172-154134769	K562	blood:	n/a	chr5:154134391-154134400
6	EP300	chr5:154134335-154134864	T-47D	breast:	n/a	chr5:154134558-154134574 chr5:154134391-154134400
7	E2F6	chr5:154134120-154134939	Hela-S3	cervix:	n/a	chr5:154134136-154134145 chr5:154134202-154134212
8	TCF12	chr5:154133420-154136643	A549	lung:	n/a	chr5:154133494-154133502 chr5:154134317-154134324
9	CREB1	chr5:154134255-154135097	H1-hESC	embryonic stem cell:	n/a	n/a
10	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
11	PAX5	chr5:154134151-154134911	GM12892	blood:	n/a	n/a
12	ZKSCAN1	chr5:154134214-154134770	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr5:154133997-154135429	PANC-1	pancreas:	n/a	n/a
14	TCF12	chr5:154134183-154135580	ECC-1	luminal epithelium:	n/a	chr5:154134317-154134324
15	PBX3	chr5:154134327-154135690	A549	lung:	n/a	n/a
16	SIN3AK20	chr5:154134213-154137170	PANC-1	pancreas:	n/a	n/a
17	E2F4	chr5:154134117-154135572	K562	blood:	n/a	chr5:154134136-154134145 chr5:154134202-154134212 chr5:154135302-154135311
18	GTF2F1	chr5:154134075-154134732	K562	blood:	n/a	n/a
19	POLR2A	chr5:154133143-154136943	K562	blood:	n/a	n/a
20	SIN3A	chr5:154134089-154134760	GM12878	blood:	n/a	chr5:154134277-154134290
21	TCF12	chr5:154134362-154134760	H1-hESC	embryonic stem cell:	n/a	n/a
22	REST	chr5:154134136-154134719	A549	lung:	n/a	chr5:154134277-154134290 chr5:154134592-154134605
23	EP300	chr5:154134278-154134765	H1-hESC	embryonic stem cell:	n/a	chr5:154134558-154134574 chr5:154134283-154134299 chr5:154134391-154134400
24	BCLAF1	chr5:154134300-154134925	K562	blood:	n/a	n/a
25	UBTF	chr5:154134102-154136984	K562	blood:	n/a	n/a
26	TAF1	chr5:154134058-154135376	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZNF143	chr5:154134198-154134917	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr5:154134056-154135301	GM12878	blood:	n/a	n/a
29	POLR2A	chr5:154133745-154137338	PANC-1	pancreas:	n/a	n/a
30	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
31	TEAD4	chr5:154134273-154134989	ECC-1	luminal epithelium:	n/a	n/a
32	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
33	TCF3	chr5:154134346-154134812	GM12878	blood:	n/a	n/a
34	NFIC	chr5:154134366-154134745	HepG2	liver:	n/a	n/a
35	KAP1	chr5:154133069-154134713	HEK293	kidney:	n/a	chr5:154134604-154134612
36	BHLHE40	chr5:154133828-154135379	GM12878	blood:	n/a	chr5:154134276-154134292 chr5:154134658-154134667 chr5:154134658-154134667 chr5:154134657-154134666
37	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
38	YY1	chr5:154134195-154136130	K562	blood:	n/a	chr5:154135832-154135846 chr5:154134391-154134400 chr5:154135945-154135959
39	CUX1	chr5:154134322-154134515	K562	blood:	n/a	n/a
40	HMGN3	chr5:154134186-154136077	K562	blood:	n/a	n/a
41	POLR2A	chr5:154133986-154134726	GM12892	blood:	n/a	n/a
42	EP300	chr5:154134051-154134982	ECC-1	luminal epithelium:	n/a	chr5:154134558-154134574 chr5:154134283-154134299 chr5:154134391-154134400
43	ELF1	chr5:154133942-154137066	GM12878	blood:	n/a	chr5:154135952-154135964 chr5:154134375-154134387 chr5:154135789-154135802 chr5:154136215-154136227
44	POLR2A	chr5:154133940-154137103	K562	blood:	n/a	n/a
45	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
46	RELA	chr5:154134091-154134914	GM18951	blood:	n/a	n/a
47	MXI1	chr5:154132804-154137423	IMR90	lung:	n/a	n/a
48	CTCF	chr5:154134115-154134855	GM12878	blood:	n/a	chr5:154134548-154134561
49	POLR2A	chr5:154134011-154134730	GM12892	blood:	n/a	n/a
50	MYC	chr5:154134289-154135112	HepG2	liver:	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	chr1:161369209..161370167-chr5:154134118..154134820,2	Hela-S3	cervix:
5	chr5:154091014..154094062-chr5:154133007..154138054,7	MCF-7	breast:
6	chr19:34286193..34287142-chr5:154134023..154134959,2	Hela-S3	cervix:
7	chr5:154134100..154134844-chr7:112758082..112758656,2	Hela-S3	cervix:
8	chr2:241937634..241938153-chr5:154134116..154135051,2	MCF-7	breast:
9	chr5:154090008..154095548-chr5:154132332..154137735,10	MCF-7	breast:
10	chr5:154133833..154138436-chr5:154316104..154319386,7	K562	blood:
11	chr5:154106800..154109528-chr5:154133013..154134653,2	K562	blood:
12	chr5:154133318..154137368-chr5:154208082..154212477,8	MCF-7	breast:
13	chr5:154059219..154066449-chr5:154131053..154139153,28	MCF-7	breast:
14	chr5:154133591..154135701-chr5:179497285..179498805,3	MCF-7	breast:
15	chr5:154079413..154083903-chr5:154131964..154138437,9	MCF-7	breast:
16	chr11:118955268..118955808-chr5:154134105..154134835,2	HCT-116	colon:
17	chr5:154133224..154141155-chr5:154235246..154242227,24	MCF-7	breast:
18	chr5:154054874..154057570-chr5:154132622..154134440,2	MCF-7	breast:
19	chr5:154122459..154125303-chr5:154131772..154134458,2	MCF-7	breast:
20	chr17:59475759..59478103-chr5:154134019..154136422,2	MCF-7	breast:
21	chr5:154120997..154122721-chr5:154132198..154134766,2	K562	blood:
22	chr5:154108106..154110806-chr5:154133073..154135320,2	K562	blood:
23	chr5:154133665..154137234-chr5:154235811..154241105,6	MCF-7	breast:
24	chr5:154133563..154137747-chr5:154235219..154239187,9	K562	blood:
25	chr5:154134362..154135956-chr5:179498285..179499281,4	HCT-116	colon:
26	chr5:154133441..154135046-chr5:154198681..154200668,2	MCF-7	breast:
27	chr5:154107670..154109549-chr5:154132494..154135385,2	MCF-7	breast:
28	chr5:154133598..154138734-chr5:154235660..154239806,12	K562	blood:
29	chr5:154133384..154135677-chr5:154316370..154317979,2	MCF-7	breast:
30	chr5:154133984..154137613-chr5:154316996..154320177,4	K562	blood:
31	chr17:39844723..39845400-chr5:154133976..154134932,2	Hela-S3	cervix:
32	chr5:154133720..154135863-chr5:154214585..154216471,2	K562	blood:
33	chr2:241938134..241939654-chr5:154133580..154135809,2	K562	blood:

Variant related genes	Relation type
LARP1	TF binding region
ENSG00000263478	Chromatin interaction
ENSG00000221552	Chromatin interaction
ENSG00000256269	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000173812	Chromatin interaction
ENSG00000263361	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000113269	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000153885	Chromatin interaction
ENSG00000155506	Chromatin interaction
ENSG00000155508	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000241187	Chromatin interaction
ENSG00000082516	Chromatin interaction
ENSG00000162804	Chromatin interaction
ENSG00000170271	Chromatin interaction
ENSG00000214194	Chromatin interaction
ENSG00000184260	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154132600-154134600	Enhancers	Fetal Heart	heart
2	chr5:154133000-154134400	Flanking Active TSS	K562	blood
3	chr5:154133000-154134600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr5:154133000-154134600	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr5:154133200-154134400	Active TSS	Fetal Brain Male	brain
6	chr5:154133200-154134400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr5:154133200-154134400	Flanking Active TSS	HSMMtube	muscle
8	chr5:154133200-154134400	Flanking Active TSS	NHEK	skin
9	chr5:154133200-154134600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr5:154133200-154134600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr5:154133200-154134600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr5:154133200-154134600	Flanking Active TSS	NH-A	brain
13	chr5:154133200-154134600	Flanking Active TSS	NHLF	lung
14	chr5:154133400-154134400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:154133400-154134400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:154133400-154134600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:154133400-154134600	Flanking Active TSS	HSMM	muscle
18	chr5:154133400-154137200	Active TSS	Lung	lung
19	chr5:154133600-154134400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:154133600-154134400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:154133600-154134400	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr5:154133600-154134400	Flanking Active TSS	Rectal Smooth Muscle	rectum
23	chr5:154133600-154134600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr5:154133600-154134600	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr5:154133600-154134600	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr5:154133600-154134600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr5:154133600-154134600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:154133600-154134600	Flanking Active TSS	HMEC	breast
29	chr5:154133600-154135800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:154133600-154137600	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr5:154133800-154134400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr5:154133800-154134400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr5:154133800-154134400	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr5:154133800-154134400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:154133800-154134400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr5:154133800-154134400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr5:154133800-154134400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr5:154133800-154134400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr5:154133800-154134400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr5:154133800-154134400	Flanking Active TSS	Fetal Intestine Large	intestine
41	chr5:154133800-154134400	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr5:154133800-154134400	Flanking Active TSS	Fetal Thymus	thymus
43	chr5:154133800-154134400	Flanking Active TSS	Right Ventricle	heart
44	chr5:154133800-154134400	Flanking Active TSS	Thymus	Thymus
45	chr5:154133800-154134400	Flanking Active TSS	HUVEC	blood vessel
46	chr5:154133800-154134600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:154133800-154134600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr5:154133800-154134600	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr5:154133800-154134600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr5:154133800-154134600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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