Variant report

Variant	rs552445589
Chromosome Location	chr5:43515597-43515598
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:186)
CpG islands
(count:0)
Chromatin interactive
region (count:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:186 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELK1	chr5:43514319-43515621	K562	blood:	n/a	n/a
2	POLR2A	chr5:43514596-43516073	Raji	blood:	n/a	n/a
3	TAF1	chr5:43514780-43515624	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr5:43514723-43515597	Gliobla	brain:	n/a	n/a
5	IRF1	chr5:43514817-43515973	K562	blood:	n/a	chr5:43515262-43515276 chr5:43515294-43515308
6	GABPA	chr5:43514519-43515695	HL-60	blood:	n/a	n/a
7	TCF12	chr5:43514877-43515612	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr5:43514221-43515680	IMR90	lung:	n/a	n/a
9	POLR2A	chr5:43514895-43515951	U87	brain:	n/a	n/a
10	MAZ	chr5:43515018-43515599	GM12878	blood:	n/a	n/a
11	REST	chr5:43514616-43515688	A549	lung:	n/a	chr5:43515319-43515332
12	CREB1	chr5:43514647-43515656	GM12878	blood:	n/a	n/a
13	MAX	chr5:43514347-43516211	Hela-S3	cervix:	n/a	n/a
14	MXI1	chr5:43514282-43515947	IMR90	lung:	n/a	n/a
15	RCOR1	chr5:43514661-43515830	K562	blood:	n/a	n/a
16	MYC	chr5:43514687-43516197	K562	blood:	n/a	n/a
17	TEAD4	chr5:43514103-43515610	K562	blood:	n/a	n/a
18	POLR2A	chr5:43514921-43515715	GM12878	blood:	n/a	n/a
19	POLR2A	chr5:43514388-43516084	Hela-S3	cervix:	n/a	n/a
20	RCOR1	chr5:43514684-43515953	K562	blood:	n/a	n/a
21	GABPA	chr5:43514746-43515689	MCF-7	breast:	n/a	n/a
22	POLR2A	chr5:43515043-43515599	HepG2	liver:	n/a	n/a
23	MXI1	chr5:43513290-43516741	SK-N-SH	brain:	n/a	n/a
24	PML	chr5:43514985-43515633	MCF-7	breast:	n/a	n/a
25	TBL1XR1	chr5:43514532-43515890	K562	blood:	n/a	n/a
26	POLR2A	chr5:43514689-43515831	K562	blood:	n/a	n/a
27	TAF1	chr5:43514953-43515602	MCF-7	breast:	n/a	n/a
28	POLR2A	chr5:43514743-43515613	K562	blood:	n/a	n/a
29	RUNX3	chr5:43514546-43515630	GM12878	blood:	n/a	chr5:43515183-43515198
30	POLR2A	chr5:43514651-43515697	HUVEC	blood vessel:	n/a	n/a
31	HCFC1	chr5:43513376-43516275	Hela-S3	cervix:	n/a	n/a
32	UBTF	chr5:43514685-43515909	K562	blood:	n/a	n/a
33	SIN3AK20	chr5:43514622-43515692	MCF-7	breast:	n/a	n/a
34	SIN3AK20	chr5:43514616-43515739	MCF-7	breast:	n/a	n/a
35	MAX	chr5:43514705-43515627	HepG2	liver:	n/a	n/a
36	MYC	chr5:43514723-43516019	K562	blood:	n/a	n/a
37	POLR2A	chr5:43514733-43515704	Hela-S3	cervix:	n/a	n/a
38	ELF1	chr5:43514816-43515597	GM12878	blood:	n/a	n/a
39	UBTF	chr5:43514798-43515627	K562	blood:	n/a	n/a
40	POLR2A	chr5:43514800-43516080	MCF-7	breast:	n/a	n/a
41	SIN3AK20	chr5:43514882-43515692	HCT-116	colon:	n/a	n/a
42	POLR2A	chr5:43514691-43515902	NB4	blood:	n/a	n/a
43	WRNIP1	chr5:43515128-43515657	GM12878	blood:	n/a	n/a
44	MAX	chr5:43514485-43515709	A549	lung:	n/a	n/a
45	POLR2A	chr5:43514594-43515602	K562	blood:	n/a	n/a
46	POLR2A	chr5:43514526-43515829	U87	brain:	n/a	n/a
47	USF2	chr5:43514703-43516121	Hela-S3	cervix:	n/a	n/a
48	ELF1	chr5:43514749-43515653	HCT-116	colon:	n/a	n/a
49	POLR2A	chr5:43514505-43516062	SK-N-MC	brain:	n/a	n/a
50	SRF	chr5:43514876-43515676	MCF-7	breast:	n/a	chr5:43515612-43515625 chr5:43515631-43515644 chr5:43515631-43515644 chr5:43515633-43515642 chr5:43515632-43515643

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43513317..43518816-chr5:43554982..43559074,7	K562	blood:
2	chr5:43481776..43485753-chr5:43513662..43518339,9	MCF-7	breast:
3	chr4:77069119..77069659-chr5:43515125..43515663,2	Hela-S3	cervix:
4	chr1:156470720..156471325-chr5:43515481..43516077,2	Hela-S3	cervix:
5	chr1:193028757..193029410-chr5:43514881..43515672,2	Hela-S3	cervix:
6	chr17:74732984..74733625-chr5:43514952..43515667,2	Hela-S3	cervix:
7	chr5:43515581..43518178-chr5:43521503..43523427,2	K562	blood:
8	chr5:43503310..43506193-chr5:43515154..43517411,2	MCF-7	breast:
9	chr5:43313320..43315914-chr5:43513861..43516716,3	MCF-7	breast:
10	chr5:43513630..43515846-chr5:43533848..43535598,2	K562	blood:
11	chr5:43509258..43511697-chr5:43513556..43516037,3	MCF-7	breast:
12	chr14:51134598..51135106-chr5:43515064..43515768,2	Hela-S3	cervix:
13	chr5:43475623..43478316-chr5:43514281..43516099,2	MCF-7	breast:
14	chr5:43513716..43515768-chr5:43530681..43534102,3	K562	blood:
15	chr5:43482660..43486669-chr5:43512252..43517355,11	K562	blood:
16	chr5:43513363..43516571-chr5:43601265..43603524,3	K562	blood:
17	chr3:49507518..49508282-chr5:43515171..43515703,2	Hela-S3	cervix:
18	chr5:43513317..43519979-chr5:43552519..43558793,19	K562	blood:
19	chr12:49658477..49659213-chr5:43515144..43515733,2	Hela-S3	cervix:
20	chr17:34889809..34890572-chr5:43514892..43515663,2	Hela-S3	cervix:
21	chr5:43514891..43515642-chr6:33284953..33285772,2	Hela-S3	cervix:
22	chr5:43481800..43486706-chr5:43511486..43517226,18	K562	blood:
23	chr3:9438651..9439381-chr5:43515156..43515834,2	Hela-S3	cervix:
24	chr5:43120420..43122830-chr5:43512903..43515731,2	MCF-7	breast:
25	chr5:43482545..43485280-chr5:43513880..43516299,2	MCF-7	breast:
26	chr16:89626684..89627329-chr5:43514846..43515824,3	Hela-S3	cervix:
27	chr15:65596698..65597695-chr5:43514892..43515614,3	Hela-S3	cervix:
28	chr10:75006684..75007194-chr5:43515061..43515622,2	NB4	blood:
29	chr3:48488174..48489157-chr5:43514876..43515648,2	Hela-S3	cervix:
30	chr11:64851655..64852260-chr5:43514967..43515641,2	Hela-S3	cervix:
31	chr5:43513876..43516684-chr5:43553510..43558785,6	MCF-7	breast:
32	chr5:43512478..43519226-chr5:43552704..43558861,10	MCF-7	breast:
33	chr19:49954530..49955192-chr5:43514769..43515700,2	Hela-S3	cervix:
34	chr13:107219557..107220085-chr5:43515084..43515665,2	Hela-S3	cervix:
35	chr10:93169300..93170227-chr5:43514707..43515605,2	Hela-S3	cervix:
36	chr5:43502114..43510409-chr5:43511788..43516990,15	K562	blood:
37	chr5:43514938..43515803-chr7:99724330..99725327,2	NB4	blood:

No data

Variant related genes	Relation type
C5orf34	TF binding region
ENSG00000236104	Chromatin interaction
ENSG00000116747	Chromatin interaction
ENSG00000165338	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000116750	Chromatin interaction
ENSG00000236756	Chromatin interaction
ENSG00000112992	Chromatin interaction
ENSG00000248554	Chromatin interaction
ENSG00000104872	Chromatin interaction
ENSG00000206573	Chromatin interaction
ENSG00000141140	Chromatin interaction
ENSG00000151748	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000173402	Chromatin interaction
ENSG00000112972	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000214309	Chromatin interaction
ENSG00000134884	Chromatin interaction
ENSG00000167526	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000092931	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000138750	Chromatin interaction
ENSG00000168137	Chromatin interaction
ENSG00000164053	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000242798	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000161547	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000248092	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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	esv1835057	chr5:43515280-43557405	Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	esv1835614	chr5:43515280-43561759	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	esv1837000	chr5:43515280-43561759	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 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	chr5:43513400-43515600	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr5:43513400-43515800	Active TSS	H1 Cell Line	embryonic stem cell
3	chr5:43513400-43515800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:43513600-43515600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:43513600-43515600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr5:43513600-43515800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:43513800-43515800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr5:43513800-43516000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr5:43513800-43516000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:43513800-43516600	Active TSS	GM12878-XiMat	blood
11	chr5:43514000-43515600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:43514000-43515800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr5:43514000-43515800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:43514000-43515800	Active TSS	HMEC	breast
15	chr5:43514000-43515800	Active TSS	K562	blood
16	chr5:43514000-43516000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:43514000-43516400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:43514200-43515600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:43514200-43515600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr5:43514200-43515600	Active TSS	NHDF-Ad	bronchial
21	chr5:43514200-43515800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:43514200-43515800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:43514200-43515800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr5:43514200-43515800	Active TSS	A549	lung
25	chr5:43514200-43516000	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr5:43514200-43516000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:43514200-43516000	Active TSS	Fetal Muscle Trunk	muscle
28	chr5:43514200-43516000	Active TSS	HSMM	muscle
29	chr5:43514200-43516200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:43514200-43516200	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr5:43514200-43516200	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr5:43514200-43516200	Active TSS	Right Atrium	heart
33	chr5:43514400-43515600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:43514400-43515600	Active TSS	Fetal Brain Female	brain
35	chr5:43514400-43515600	Active TSS	Fetal Intestine Small	intestine
36	chr5:43514400-43515600	Active TSS	Dnd41	blood
37	chr5:43514400-43515800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:43514400-43515800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:43514400-43515800	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr5:43514400-43515800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:43514400-43515800	Active TSS	Brain Germinal Matrix	brain
42	chr5:43514400-43515800	Active TSS	Fetal Intestine Large	intestine
43	chr5:43514400-43515800	Active TSS	Stomach Smooth Muscle	stomach
44	chr5:43514400-43515800	Active TSS	Thymus	Thymus
45	chr5:43514400-43515800	Active TSS	HSMMtube	muscle
46	chr5:43514400-43515800	Active TSS	NHEK	skin
47	chr5:43514400-43516000	Active TSS	Fetal Muscle Leg	muscle
48	chr5:43514400-43516000	Active TSS	Psoas Muscle	Psoas
49	chr5:43514400-43516000	Active TSS	Right Ventricle	heart
50	chr5:43514400-43516400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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