Variant report

Variant	rs75593141
Chromosome Location	chr5:43557704-43557705
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	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	chr5:43555808-43557990	GM12878	blood:	n/a	n/a
5	POLR2A	chr5:43555881-43557925	GM12892	blood:	n/a	n/a
6	MAX	chr5:43556078-43558002	A549	lung:	n/a	n/a
7	TBP	chr5:43557564-43557768	GM12878	blood:	n/a	n/a
8	POLR2A	chr5:43556407-43557906	HCT-116	colon:	n/a	n/a
9	POLR2A	chr5:43556303-43557875	IMR90	lung:	n/a	n/a
10	POLR2A	chr5:43556215-43557819	NB4	blood:	n/a	n/a
11	POLR2A	chr5:43557249-43557709	HepG2	liver:	n/a	n/a
12	RCOR1	chr5:43557556-43557750	HepG2	liver:	n/a	n/a
13	HMGN3	chr5:43556349-43557934	K562	blood:	n/a	n/a
14	ZNF263	chr5:43556138-43557943	HEK293-T-REx	kidney:	n/a	chr5:43557064-43557073
15	POLR2A	chr5:43556072-43558000	MCF10A-Er-Src	breast:	n/a	n/a
16	MXI1	chr5:43556420-43557890	HepG2	liver:	n/a	n/a
17	POLR2A	chr5:43556130-43557999	GM12892	blood:	n/a	n/a
18	MYC	chr5:43556269-43557817	K562	blood:	n/a	n/a
19	ZBTB7A	chr5:43556756-43557830	ECC-1	luminal epithelium:	n/a	n/a
20	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
21	POLR2A	chr5:43556771-43557708	HL-60	blood:	n/a	n/a
22	SMARCC1	chr5:43555941-43557802	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr5:43556307-43557755	K562	blood:	n/a	chr5:43556469-43556479 chr5:43557522-43557532
24	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
25	TAF1	chr5:43555868-43557770	H1-hESC	embryonic stem cell:	n/a	n/a
26	RFX5	chr5:43556974-43557775	Hela-S3	cervix:	n/a	n/a
27	HCFC1	chr5:43554074-43558030	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr5:43556817-43557728	U87	brain:	n/a	n/a
29	POLR2A	chr5:43556793-43557761	H1-neurons	neurons:	n/a	n/a
30	RUNX3	chr5:43556094-43557747	GM12878	blood:	n/a	n/a
31	PML	chr5:43556741-43557738	K562	blood:	n/a	n/a
32	CTCF	chr5:43557580-43557730	GM12867	blood:	n/a	n/a
33	E2F4	chr5:43556802-43557721	K562	blood:	n/a	chr5:43557073-43557082 chr5:43557210-43557225 chr5:43557108-43557117
34	TBP	chr5:43556077-43557752	HepG2	liver:	n/a	n/a
35	POLR2A	chr5:43556780-43557913	K562	blood:	n/a	n/a
36	TAF1	chr5:43556775-43557766	H1-neurons	neurons:	n/a	n/a
37	ARID3A	chr5:43557047-43557889	HepG2	liver:	n/a	n/a
38	POLR2A	chr5:43556356-43557879	GM12891	blood:	n/a	n/a
39	MTA3	chr5:43556818-43558010	GM12878	blood:	n/a	n/a
40	CTCF	chr5:43555733-43557747	SK-N-SH	brain:	n/a	chr5:43557240-43557253 chr5:43557241-43557254
41	MAX	chr5:43556417-43557815	K562	blood:	n/a	n/a
42	CTCF	chr5:43555671-43557772	A549	lung:	n/a	chr5:43557240-43557253 chr5:43557241-43557254
43	STAT3	chr5:43557614-43557814	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr5:43555831-43558028	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr5:43557216-43557717	HepG2	liver:	n/a	n/a
46	TBP	chr5:43556099-43557893	K562	blood:	n/a	n/a
47	RCOR1	chr5:43556992-43557867	K562	blood:	n/a	n/a
48	POLR2A	chr5:43556189-43557868	GM12891	blood:	n/a	n/a
49	STAT1	chr5:43557005-43557724	GM12878	blood:	n/a	chr5:43557394-43557406
50	TCF7L2	chr5:43556949-43557790	HCT-116	colon:	n/a	n/a

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	chr5:43557377..43557920-chr6:26123924..26124717,2	Hela-S3	cervix:
8	chr5:43481238..43485996-chr5:43553681..43560344,12	K562	blood:
9	chr5:43552832..43560830-chr5:43598877..43605844,26	MCF-7	breast:
10	chr5:43556013..43559876-chr5:43586120..43588801,3	K562	blood:
11	chr1:113498279..113499102-chr5:43557001..43557719,2	Hela-S3	cervix:
12	chr5:43479992..43486255-chr5:43553479..43560182,13	MCF-7	breast:
13	chr5:43505801..43507815-chr5:43555939..43557727,2	MCF-7	breast:
14	chr5:43557091..43557731-chr5:43602959..43603556,2	MCF-7	breast:
15	chr5:43555382..43559666-chr5:43598979..43604929,17	K562	blood:
16	chr5:43513317..43518816-chr5:43554982..43559074,7	K562	blood:
17	chr5:43554854..43559895-chr5:43599481..43606699,15	MCF-7	breast:
18	chr5:43557000..43557782-chr5:176730254..176730958,2	NB4	blood:
19	chr1:114471689..114472657-chr5:43557087..43557874,2	Hela-S3	cervix:
20	chr5:43119211..43122555-chr5:43554907..43559759,4	K562	blood:
21	chr5:43481891..43486310-chr5:43553986..43559337,13	K562	blood:

Variant related genes	Relation type
PAIP1	TF binding region
ENSG00000249286	Chromatin interaction
ENSG00000248240	Chromatin interaction
ENSG00000226419	Chromatin interaction
ENSG00000155380	Chromatin interaction
ENSG00000235527	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000169230	Chromatin interaction
ENSG00000112992	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000248092	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000169228	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000163349	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000180573	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:126 , 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	chr5:43555000-43557800	Active TSS	Psoas Muscle	Psoas
5	chr5:43555200-43558000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:43555200-43558000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:43555200-43558000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:43555400-43557800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:43555400-43558000	Active TSS	H1 Cell Line	embryonic stem cell
10	chr5:43555400-43558000	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr5:43555400-43558000	Active TSS	Fetal Intestine Large	intestine
12	chr5:43555600-43558000	Active TSS	H9 Cell Line	embryonic stem cell
13	chr5:43555600-43558000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:43555600-43558000	Active TSS	Fetal Brain Female	brain
15	chr5:43555800-43557800	Active TSS	Aorta	Aorta
16	chr5:43555800-43558000	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr5:43555800-43558000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr5:43555800-43558000	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr5:43555800-43558000	Active TSS	Fetal Kidney	kidney
20	chr5:43556000-43557800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr5:43556000-43557800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:43556000-43557800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:43556000-43557800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:43556000-43557800	Active TSS	Left Ventricle	heart
25	chr5:43556000-43557800	Active TSS	Lung	lung
26	chr5:43556000-43557800	Active TSS	Ovary	ovary
27	chr5:43556000-43557800	Active TSS	Pancreas	Pancrea
28	chr5:43556000-43558000	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr5:43556000-43558000	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr5:43556000-43558000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:43556000-43558000	Active TSS	Colonic Mucosa	Colon
32	chr5:43556000-43558000	Active TSS	Esophagus	oesophagus
33	chr5:43556000-43558000	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr5:43556200-43557800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:43556200-43557800	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr5:43556200-43557800	Active TSS	Placenta	Placenta
37	chr5:43556200-43557800	Active TSS	Spleen	Spleen
38	chr5:43556200-43558000	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr5:43556200-43558000	Active TSS	Brain Angular Gyrus	brain
40	chr5:43556200-43558000	Active TSS	Brain Hippocampus Middle	brain
41	chr5:43556200-43558000	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr5:43556200-43558000	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr5:43556200-43558000	Active TSS	Rectal Smooth Muscle	rectum
44	chr5:43556400-43557800	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr5:43556400-43558000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:43556400-43558000	Active TSS	Brain Anterior Caudate	brain
47	chr5:43556400-43558000	Active TSS	Stomach Smooth Muscle	stomach
48	chr5:43556600-43558000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:43556800-43557800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:43557200-43558000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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