Variant report

Variant	rs566614192
Chromosome Location	chr5:43557413-43557414
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	chr5:43555813-43557490	SK-N-MC	brain:	n/a	n/a
2	RUNX3	chr5:43556200-43557837	GM12878	blood:	n/a	n/a
3	MYBL2	chr5:43556813-43557879	HepG2	liver:	n/a	n/a
4	CTCF	chr5:43556785-43557509	K562	blood:	n/a	chr5:43557240-43557253 chr5:43557241-43557254
5	MAX	chr5:43556828-43557777	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:43556200-43557690	GM12878	blood:	n/a	n/a
7	POU2F2	chr5:43556459-43557465	GM12878	blood:	n/a	chr5:43556470-43556482
8	STAT5A	chr5:43556934-43557526	GM12878	blood:	n/a	chr5:43557394-43557406
9	POLR2A	chr5:43556265-43557488	PANC-1	pancreas:	n/a	n/a
10	POU2F2	chr5:43556465-43557515	GM12891	blood:	n/a	chr5:43556470-43556482
11	POLR2A	chr5:43555808-43557990	GM12878	blood:	n/a	n/a
12	TCF3	chr5:43556395-43557466	GM12878	blood:	n/a	chr5:43557342-43557356 chr5:43557344-43557354
13	MYC	chr5:43557257-43557496	MCF-7	breast:	n/a	n/a
14	HEY1	chr5:43556437-43557673	K562	blood:	n/a	chr5:43557250-43557265 chr5:43557215-43557230 chr5:43557204-43557219 chr5:43556977-43556992 chr5:43557212-43557227 chr5:43557297-43557312
15	TCF12	chr5:43556365-43557545	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr5:43555881-43557925	GM12892	blood:	n/a	n/a
17	MAX	chr5:43556078-43558002	A549	lung:	n/a	n/a
18	JUND	chr5:43556843-43557672	K562	blood:	n/a	chr5:43557150-43557159 chr5:43557322-43557331
19	POLR2A	chr5:43556407-43557906	HCT-116	colon:	n/a	n/a
20	CTCF	chr5:43556627-43557609	K562	blood:	n/a	chr5:43557240-43557253 chr5:43557241-43557254
21	CREB1	chr5:43556742-43557506	A549	lung:	n/a	n/a
22	POLR2A	chr5:43556303-43557875	IMR90	lung:	n/a	n/a
23	POLR2A	chr5:43556215-43557819	NB4	blood:	n/a	n/a
24	TAF1	chr5:43557070-43557425	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr5:43557249-43557709	HepG2	liver:	n/a	n/a
26	CTCF	chr5:43556521-43557428	Spleen_OC	spleen:	n/a	chr5:43557240-43557253 chr5:43557241-43557254
27	CHD2	chr5:43556258-43557434	H1-hESC	embryonic stem cell:	n/a	chr5:43556469-43556479
28	HMGN3	chr5:43556349-43557934	K562	blood:	n/a	n/a
29	ZNF263	chr5:43556138-43557943	HEK293-T-REx	kidney:	n/a	chr5:43557064-43557073
30	ETS1	chr5:43556227-43557565	K562	blood:	n/a	chr5:43557521-43557532 chr5:43556428-43556435
31	ZNF384	chr5:43556920-43557556	K562	blood:	n/a	n/a
32	CTCF	chr5:43556858-43557453	GM12891	blood:	n/a	chr5:43557240-43557253 chr5:43557241-43557254
33	POLR2A	chr5:43556072-43558000	MCF10A-Er-Src	breast:	n/a	n/a
34	TAF1	chr5:43556274-43557535	GM12878	blood:	n/a	n/a
35	POLR2A	chr5:43556382-43557577	Gliobla	brain:	n/a	n/a
36	MAX	chr5:43556173-43557663	Hela-S3	cervix:	n/a	n/a
37	YY1	chr5:43556355-43557527	K562	blood:	n/a	chr5:43557074-43557088 chr5:43557215-43557226 chr5:43556978-43556989 chr5:43557073-43557087 chr5:43557223-43557234 chr5:43557073-43557082
38	CTCF	chr5:43557360-43557510	HCPEpiC	choroid plexus:	n/a	n/a
39	MXI1	chr5:43556420-43557890	HepG2	liver:	n/a	n/a
40	POLR2A	chr5:43556130-43557999	GM12892	blood:	n/a	n/a
41	CCNT2	chr5:43556342-43557649	K562	blood:	n/a	chr5:43556582-43556591 chr5:43557523-43557532 chr5:43556469-43556478
42	MYBL2	chr5:43556947-43557417	HepG2	liver:	n/a	n/a
43	EP300	chr5:43557053-43557415	SK-N-SH_RA	brain:	n/a	chr5:43557077-43557086 chr5:43557302-43557318 chr5:43557238-43557254
44	MYC	chr5:43556269-43557817	K562	blood:	n/a	n/a
45	MYC	chr5:43556833-43557511	A549	lung:	n/a	n/a
46	MAX	chr5:43556171-43557455	A549	lung:	n/a	n/a
47	ZBTB7A	chr5:43556756-43557830	ECC-1	luminal epithelium:	n/a	n/a
48	BRCA1	chr5:43556842-43557430	Hela-S3	cervix:	n/a	n/a
49	MXI1	chr5:43556935-43557657	H1-hESC	embryonic stem cell:	n/a	n/a
50	TAF1	chr5:43555891-43557524	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:201475927..201476630-chr5:43556648..43557452,2	Hela-S3	cervix:
2	chr5:43555487..43559521-chr5:43598404..43605405,16	K562	blood:
3	chr5:43513317..43519979-chr5:43552519..43558793,19	K562	blood:
4	chr5:43512478..43519226-chr5:43552704..43558861,10	MCF-7	breast:
5	chr5:43482505..43485566-chr5:43554663..43558409,7	MCF-7	breast:
6	chr12:111180408..111180909-chr5:43556650..43557524,2	MCF-7	breast:
7	chr22:17639626..17640361-chr5:43556833..43557442,2	HCT-116	colon:
8	chr1:119682961..119683533-chr5:43556648..43557563,2	Hela-S3	cervix:
9	chr5:43121048..43123106-chr5:43555521..43557723,3	MCF-7	breast:
10	chr5:43513876..43516684-chr5:43553510..43558785,6	MCF-7	breast:
11	chr5:43556750..43557621-chr5:172197749..172198384,2	Hela-S3	cervix:
12	chr2:98280019..98280550-chr5:43556723..43557699,2	Hela-S3	cervix:
13	chr5:43557377..43557920-chr6:26123924..26124717,2	Hela-S3	cervix:
14	chr17:27055082..27056024-chr5:43556763..43557563,2	Hela-S3	cervix:
15	chr5:43556618..43557510-chr6:26056304..26057045,2	Hela-S3	cervix:
16	chr12:92539037..92539704-chr5:43557010..43557658,2	Hela-S3	cervix:
17	chr5:43481238..43485996-chr5:43553681..43560344,12	K562	blood:
18	chr5:43552832..43560830-chr5:43598877..43605844,26	MCF-7	breast:
19	chr19:17325940..17326696-chr5:43556663..43557498,2	Hela-S3	cervix:
20	chr5:43505282..43507808-chr5:43556089..43557593,2	K562	blood:
21	chr5:43556013..43559876-chr5:43586120..43588801,3	K562	blood:
22	chr1:113498279..113499102-chr5:43557001..43557719,2	Hela-S3	cervix:
23	chr5:43479992..43486255-chr5:43553479..43560182,13	MCF-7	breast:
24	chr5:43063931..43068016-chr5:43554200..43557480,3	K562	blood:
25	chr5:43505801..43507815-chr5:43555939..43557727,2	MCF-7	breast:
26	chr5:43557091..43557731-chr5:43602959..43603556,2	MCF-7	breast:
27	chr5:43555382..43559666-chr5:43598979..43604929,17	K562	blood:
28	chr14:81687174..81687699-chr5:43556647..43557624,2	HCT-116	colon:
29	chr5:43513317..43518816-chr5:43554982..43559074,7	K562	blood:
30	chr5:43554854..43559895-chr5:43599481..43606699,15	MCF-7	breast:
31	chr5:43557000..43557782-chr5:176730254..176730958,2	NB4	blood:
32	chr1:114471689..114472657-chr5:43557087..43557874,2	Hela-S3	cervix:
33	chr5:43119211..43122555-chr5:43554907..43559759,4	K562	blood:
34	chr5:43481891..43486310-chr5:43553986..43559337,13	K562	blood:

Variant related genes	Relation type
PAIP1	TF binding region
ENSG00000224536	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000155380	Chromatin interaction
ENSG00000231365	Chromatin interaction
ENSG00000169228	Chromatin interaction
ENSG00000248240	Chromatin interaction
ENSG00000112992	Chromatin interaction
ENSG00000163349	Chromatin interaction
ENSG00000186298	Chromatin interaction
ENSG00000069998	Chromatin interaction
ENSG00000235527	Chromatin interaction
ENSG00000226419	Chromatin interaction
ENSG00000116874	Chromatin interaction
ENSG00000248092	Chromatin interaction
ENSG00000159176	Chromatin interaction
ENSG00000053501	Chromatin interaction
ENSG00000169230	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000115073	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000245904	Chromatin interaction
ENSG00000120129	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000165417	Chromatin interaction
ENSG00000133639	Chromatin interaction
ENSG00000185837	Chromatin interaction
ENSG00000249286	Chromatin interaction
ENSG00000160602	Chromatin interaction
ENSG00000180596	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
4	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
5	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	esv3471239	chr5:43541792-43587904	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
7	esv3471240	chr5:43541792-43587904	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
8	esv12689	chr5:43556383-43557492	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	45 gene(s)	inside rSNPs	n/a
9	esv1792602	chr5:43556410-43561759	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	45 gene(s)	inside rSNPs	diseases
10	esv1802364	chr5:43556410-43561759	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	45 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	chr5:43554000-43557800	Active TSS	Right Ventricle	heart
2	chr5:43554800-43557800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:43554800-43558400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr5:43555000-43557600	Active TSS	HSMMtube	muscle
5	chr5:43555000-43557800	Active TSS	Psoas Muscle	Psoas
6	chr5:43555200-43558000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:43555200-43558000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:43555200-43558000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:43555400-43557800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:43555400-43558000	Active TSS	H1 Cell Line	embryonic stem cell
11	chr5:43555400-43558000	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr5:43555400-43558000	Active TSS	Fetal Intestine Large	intestine
13	chr5:43555600-43557600	Active TSS	Fetal Stomach	stomach
14	chr5:43555600-43557600	Active TSS	Fetal Thymus	thymus
15	chr5:43555600-43557600	Active TSS	GM12878-XiMat	blood
16	chr5:43555600-43557600	Active TSS	K562	blood
17	chr5:43555600-43558000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr5:43555600-43558000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:43555600-43558000	Active TSS	Fetal Brain Female	brain
20	chr5:43555800-43557600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:43555800-43557600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:43555800-43557600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:43555800-43557600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr5:43555800-43557600	Active TSS	Thymus	Thymus
25	chr5:43555800-43557600	Active TSS	A549	lung
26	chr5:43555800-43557800	Active TSS	Aorta	Aorta
27	chr5:43555800-43558000	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr5:43555800-43558000	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr5:43555800-43558000	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr5:43555800-43558000	Active TSS	Fetal Kidney	kidney
31	chr5:43556000-43557600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:43556000-43557600	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr5:43556000-43557600	Active TSS	Colon Smooth Muscle	Colon
34	chr5:43556000-43557600	Active TSS	Fetal Intestine Small	intestine
35	chr5:43556000-43557600	Active TSS	Fetal Lung	lung
36	chr5:43556000-43557600	Active TSS	Gastric	stomach
37	chr5:43556000-43557600	Active TSS	Placenta Amnion	Placenta Amnion
38	chr5:43556000-43557600	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr5:43556000-43557600	Active TSS	NHEK	skin
40	chr5:43556000-43557800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr5:43556000-43557800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:43556000-43557800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:43556000-43557800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:43556000-43557800	Active TSS	Left Ventricle	heart
45	chr5:43556000-43557800	Active TSS	Lung	lung
46	chr5:43556000-43557800	Active TSS	Ovary	ovary
47	chr5:43556000-43557800	Active TSS	Pancreas	Pancrea
48	chr5:43556000-43558000	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr5:43556000-43558000	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr5:43556000-43558000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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