Variant report

Variant	rs369413830
Chromosome Location	chr5:43557599-43557600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:212)
CpG islands
(count:61)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:212 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr5:43556200-43557837	GM12878	blood:	n/a	n/a
2	MYBL2	chr5:43556813-43557879	HepG2	liver:	n/a	n/a
3	MAX	chr5:43556828-43557777	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr5:43556200-43557690	GM12878	blood:	n/a	n/a
5	POLR2A	chr5:43557514-43557643	HepG2	liver:	n/a	n/a
6	POLR2A	chr5:43555808-43557990	GM12878	blood:	n/a	n/a
7	CTCF	chr5:43557480-43557630	A549	lung:	n/a	n/a
8	CTCF	chr5:43557520-43557670	BJ	skin:	n/a	n/a
9	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
10	POLR2A	chr5:43555881-43557925	GM12892	blood:	n/a	n/a
11	MAX	chr5:43556078-43558002	A549	lung:	n/a	n/a
12	TBP	chr5:43557564-43557768	GM12878	blood:	n/a	n/a
13	JUND	chr5:43556843-43557672	K562	blood:	n/a	chr5:43557150-43557159 chr5:43557322-43557331
14	POLR2A	chr5:43556407-43557906	HCT-116	colon:	n/a	n/a
15	CTCF	chr5:43556627-43557609	K562	blood:	n/a	chr5:43557240-43557253 chr5:43557241-43557254
16	POLR2A	chr5:43556303-43557875	IMR90	lung:	n/a	n/a
17	POLR2A	chr5:43557570-43557599	GM12878	blood:	n/a	n/a
18	POLR2A	chr5:43556215-43557819	NB4	blood:	n/a	n/a
19	POLR2A	chr5:43557249-43557709	HepG2	liver:	n/a	n/a
20	RCOR1	chr5:43557556-43557750	HepG2	liver:	n/a	n/a
21	HMGN3	chr5:43556349-43557934	K562	blood:	n/a	n/a
22	ZNF263	chr5:43556138-43557943	HEK293-T-REx	kidney:	n/a	chr5:43557064-43557073
23	POLR2A	chr5:43556072-43558000	MCF10A-Er-Src	breast:	n/a	n/a
24	MAX	chr5:43556173-43557663	Hela-S3	cervix:	n/a	n/a
25	MXI1	chr5:43556420-43557890	HepG2	liver:	n/a	n/a
26	POLR2A	chr5:43556130-43557999	GM12892	blood:	n/a	n/a
27	CCNT2	chr5:43556342-43557649	K562	blood:	n/a	chr5:43556582-43556591 chr5:43557523-43557532 chr5:43556469-43556478
28	MYC	chr5:43556269-43557817	K562	blood:	n/a	n/a
29	ZBTB7A	chr5:43556756-43557830	ECC-1	luminal epithelium:	n/a	n/a
30	MXI1	chr5:43556935-43557657	H1-hESC	embryonic stem cell:	n/a	n/a
31	HEY1	chr5:43556293-43557877	HepG2	liver:	n/a	chr5:43557250-43557265 chr5:43557215-43557230 chr5:43557204-43557219 chr5:43556977-43556992 chr5:43557212-43557227 chr5:43557297-43557312
32	MAZ	chr5:43556255-43557669	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr5:43556771-43557708	HL-60	blood:	n/a	n/a
34	SMARCC1	chr5:43555941-43557802	Hela-S3	cervix:	n/a	n/a
35	MXI1	chr5:43555863-43557685	IMR90	lung:	n/a	n/a
36	CHD2	chr5:43556307-43557755	K562	blood:	n/a	chr5:43556469-43556479 chr5:43557522-43557532
37	MAZ	chr5:43556427-43557687	GM12878	blood:	n/a	n/a
38	TAF1	chr5:43556410-43557677	HepG2	liver:	n/a	n/a
39	HEY1	chr5:43555845-43557980	K562	blood:	n/a	chr5:43557250-43557265 chr5:43557215-43557230 chr5:43557204-43557219 chr5:43556977-43556992 chr5:43557212-43557227 chr5:43557297-43557312
40	TAF1	chr5:43555868-43557770	H1-hESC	embryonic stem cell:	n/a	n/a
41	GATA1	chr5:43556699-43557625	PBDE	blood:	n/a	n/a
42	RFX5	chr5:43556974-43557775	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr5:43556084-43557673	Hela-S3	cervix:	n/a	n/a
44	HCFC1	chr5:43554074-43558030	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr5:43556319-43557687	MCF-7	breast:	n/a	n/a
46	POLR2A	chr5:43556817-43557728	U87	brain:	n/a	n/a
47	EP300	chr5:43556735-43557660	SK-N-SH	brain:	n/a	chr5:43557077-43557086 chr5:43557302-43557318 chr5:43557238-43557254
48	POLR2A	chr5:43556793-43557761	H1-neurons	neurons:	n/a	n/a
49	RUNX3	chr5:43556094-43557747	GM12878	blood:	n/a	n/a
50	SMC3	chr5:43556837-43557682	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:43557583-43557633	ovcar-3	ovarian:	n/a
2	chr5:43557583-43557633	SAEC	small airway:	n/a
3	chr5:43557583-43557633	BJ	skin:	n/a
4	chr5:43557583-43557633	HRE	kidney:	n/a
5	chr5:43557583-43557633	RPTEC	kidney:	n/a
6	chr5:43557583-43557633	AG04450	lung:	fetal
7	chr5:43557583-43557633	BE2_C	brain:	n/a
8	chr5:43557583-43557633	NT2-D1	testis:	n/a
9	chr5:43557583-43557633	NHDF-neo	bronchial:	n/a
10	chr5:43557583-43557633	GM12878	blood:	n/a
11	chr5:43557583-43557633	AG10803	skin:	n/a
12	chr5:43557583-43557633	HCF	heart:	n/a
13	chr5:43557583-43557633	HAEpiC	amniotic membrane:	n/a
14	chr5:43557583-43557633	HPAEpiC	pulmonary alveolar:	n/a
15	chr5:43557583-43557633	Caco-2	colon:	n/a
16	chr5:43557583-43557633	LNCaP	prostate:	n/a
17	chr5:43557583-43557633	HIPEpiC	eye:	n/a
18	chr5:43557583-43557633	ProgFib	skin:	n/a
19	chr5:43557583-43557633	GM06990	blood:	n/a
20	chr5:43557583-43557633	GM19239	blood:	n/a
21	chr5:43557583-43557633	HCPEpiC	choroid plexus:	n/a
22	chr5:43557583-43557633	AG09319	gingival:	n/a
23	chr5:43557583-43557633	A549	lung:	n/a
24	chr5:43557583-43557633	NB4	blood:	n/a
25	chr5:43557583-43557633	HepG2	liver:	n/a
26	chr5:43557583-43557633	CMK	blood:	n/a
27	chr5:43557583-43557633	HCT-116	colon:	n/a
28	chr5:43557583-43557633	HMEC	breast:	n/a
29	chr5:43557583-43557633	AoSMC	blood vessel:	n/a
30	chr5:43557583-43557633	Hela-S3	cervix:	n/a
31	chr5:43557583-43557633	HUVEC	blood vessel:	n/a
32	chr5:43557583-43557633	SK-N-MC	brain:	n/a
33	chr5:43557583-43557633	MCF10A-Er-Src	breast:	n/a
34	chr5:43557583-43557633	GM12892	blood:	n/a
35	chr5:43557583-43557633	NH-A	brain:	n/a
36	chr5:43557583-43557633	HCM	heart:	n/a
37	chr5:43557583-43557633	AG09309	skin:	n/a
38	chr5:43557583-43557633	HEEpiC	esophagus:	n/a
39	chr5:43557583-43557633	HRPEpiC	eye:	n/a
40	chr5:43557583-43557633	PANC-1	pancreas:	n/a
41	chr5:43557583-43557633	IMR90	lung:	fetal
42	chr5:43557583-43557633	AG04449	skin:	fetal
43	chr5:43557583-43557633	K562	blood:	n/a
44	chr5:43557583-43557633	MCF-7	breast:	n/a
45	chr5:43557583-43557633	HL-60	blood:	n/a
46	chr5:43557583-43557633	PrEC	prostate:	n/a
47	chr5:43557583-43557633	Hepatocyte	liver:	n/a
48	chr5:43557583-43557633	H1-hESC	embryonic stem cell:	embryo
49	chr5:43557583-43557633	HRCEpiC	kidney:	n/a
50	chr5:43557583-43557633	HNPCEpiC	eye:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43555487..43559521-chr5:43598404..43605405,16	K562	blood:
2	chr5:43513317..43519979-chr5:43552519..43558793,19	K562	blood:
3	chr5:43512478..43519226-chr5:43552704..43558861,10	MCF-7	breast:
4	chr5:43482505..43485566-chr5:43554663..43558409,7	MCF-7	breast:
5	chr5:43121048..43123106-chr5:43555521..43557723,3	MCF-7	breast:
6	chr5:43513876..43516684-chr5:43553510..43558785,6	MCF-7	breast:
7	chr5:43556750..43557621-chr5:172197749..172198384,2	Hela-S3	cervix:
8	chr2:98280019..98280550-chr5:43556723..43557699,2	Hela-S3	cervix:
9	chr5:43557377..43557920-chr6:26123924..26124717,2	Hela-S3	cervix:
10	chr12:92539037..92539704-chr5:43557010..43557658,2	Hela-S3	cervix:
11	chr5:43481238..43485996-chr5:43553681..43560344,12	K562	blood:
12	chr5:43552832..43560830-chr5:43598877..43605844,26	MCF-7	breast:
13	chr5:43556013..43559876-chr5:43586120..43588801,3	K562	blood:
14	chr1:113498279..113499102-chr5:43557001..43557719,2	Hela-S3	cervix:
15	chr5:43479992..43486255-chr5:43553479..43560182,13	MCF-7	breast:
16	chr5:43505801..43507815-chr5:43555939..43557727,2	MCF-7	breast:
17	chr5:43557091..43557731-chr5:43602959..43603556,2	MCF-7	breast:
18	chr5:43555382..43559666-chr5:43598979..43604929,17	K562	blood:
19	chr14:81687174..81687699-chr5:43556647..43557624,2	HCT-116	colon:
20	chr5:43513317..43518816-chr5:43554982..43559074,7	K562	blood:
21	chr5:43554854..43559895-chr5:43599481..43606699,15	MCF-7	breast:
22	chr5:43557000..43557782-chr5:176730254..176730958,2	NB4	blood:
23	chr1:114471689..114472657-chr5:43557087..43557874,2	Hela-S3	cervix:
24	chr5:43119211..43122555-chr5:43554907..43559759,4	K562	blood:
25	chr5:43481891..43486310-chr5:43553986..43559337,13	K562	blood:

No data

Variant related genes	Relation type
PAIP1	TF binding region
PAIP1	CpG island
ENSG00000248092	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000245904	Chromatin interaction
ENSG00000165417	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000169228	Chromatin interaction
ENSG00000169230	Chromatin interaction
ENSG00000248240	Chromatin interaction
ENSG00000112992	Chromatin interaction
ENSG00000249286	Chromatin interaction
ENSG00000133639	Chromatin interaction
ENSG00000115073	Chromatin interaction
ENSG00000235527	Chromatin interaction
ENSG00000155380	Chromatin interaction
ENSG00000120129	Chromatin interaction
ENSG00000226419	Chromatin interaction
ENSG00000163349	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000249492	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
9	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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