Variant report

Variant	rs145647595
Chromosome Location	chr1:154531613-154531614
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	RELA	chr1:154531167-154532436	GM18505	blood:	n/a	n/a
2	ATF2	chr1:154531080-154531617	GM12878	blood:	n/a	n/a
3	ATF3	chr1:154531100-154531650	H1-hESC	embryonic stem cell:	n/a	chr1:154531276-154531296 chr1:154531276-154531285 chr1:154531535-154531544
4	STAT1	chr1:154531165-154532414	GM12878	blood:	n/a	n/a
5	EGR1	chr1:154531046-154531693	K562	blood:	n/a	chr1:154531259-154531269 chr1:154531185-154531195 chr1:154531536-154531549 chr1:154531131-154531140 chr1:154531261-154531274 chr1:154531534-154531544
6	POU2F2	chr1:154531116-154531807	GM12891	blood:	n/a	chr1:154531164-154531176 chr1:154531205-154531217
7	ELF1	chr1:154531062-154531635	A549	lung:	n/a	chr1:154531130-154531143 chr1:154531070-154531082 chr1:154531519-154531531 chr1:154531161-154531170 chr1:154531185-154531197
8	CHD2	chr1:154531152-154532272	K562	blood:	n/a	n/a
9	POLR2A	chr1:154531362-154532449	GM12891	blood:	n/a	n/a
10	MAX	chr1:154531136-154532333	Hela-S3	cervix:	n/a	chr1:154531276-154531285 chr1:154531356-154531366 chr1:154531184-154531194 chr1:154531279-154531287
11	BRCA1	chr1:154531310-154532172	HepG2	liver:	n/a	n/a
12	POU2F2	chr1:154531131-154531786	GM12878	blood:	n/a	chr1:154531164-154531176 chr1:154531205-154531217
13	EBF1	chr1:154531213-154531719	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:154530738-154531741	K562	blood:	n/a	n/a
15	JUND	chr1:154531128-154532285	K562	blood:	n/a	chr1:154531326-154531335
16	MAFK	chr1:154531221-154532275	Hela-S3	cervix:	n/a	chr1:154532045-154532060 chr1:154531682-154531698
17	TCF12	chr1:154530961-154532280	ECC-1	luminal epithelium:	n/a	n/a
18	BHLHE40	chr1:154531180-154531677	HepG2	liver:	n/a	chr1:154531270-154531291 chr1:154531276-154531285 chr1:154531277-154531286 chr1:154531274-154531287 chr1:154531203-154531219 chr1:154531276-154531285
19	GABPA	chr1:154531075-154531732	Hela-S3	cervix:	n/a	chr1:154531535-154531544
20	POLR2A	chr1:154530846-154532332	H1-neurons	neurons:	n/a	n/a
21	TCF12	chr1:154530967-154531955	MCF-7	breast:	n/a	n/a
22	POLR2A	chr1:154531081-154532324	GM12878	blood:	n/a	n/a
23	MYC	chr1:154531055-154532385	K562	blood:	n/a	chr1:154531276-154531285 chr1:154531356-154531366 chr1:154531184-154531194 chr1:154531279-154531287
24	POLR2A	chr1:154530645-154532297	GM18951	blood:	n/a	n/a
25	MAX	chr1:154531107-154532274	GM12878	blood:	n/a	chr1:154531276-154531285 chr1:154531356-154531366 chr1:154531184-154531194 chr1:154531279-154531287
26	USF1	chr1:154530967-154532324	HCT-116	colon:	n/a	chr1:154531270-154531291 chr1:154531276-154531285 chr1:154531277-154531286 chr1:154531274-154531287 chr1:154531459-154531470 chr1:154531203-154531219 chr1:154531276-154531285
27	POLR2A	chr1:154531125-154532397	Hela-S3	cervix:	n/a	n/a
28	E2F4	chr1:154531134-154532292	K562	blood:	n/a	chr1:154531210-154531220 chr1:154531321-154531332 chr1:154531967-154531974 chr1:154531323-154531330 chr1:154531967-154531974 chr1:154531366-154531376 chr1:154531967-154531974 chr1:154531535-154531544 chr1:154531532-154531544 chr1:154531323-154531330 chr1:154531322-154531330 chr1:154531323-154531330 chr1:154531322-154531334 chr1:154531260-154531269
29	ETS1	chr1:154531100-154531674	GM12878	blood:	n/a	chr1:154531209-154531225 chr1:154531161-154531172 chr1:154531128-154531139 chr1:154531326-154531337 chr1:154531217-154531227
30	MAZ	chr1:154531028-154532314	Hela-S3	cervix:	n/a	chr1:154531276-154531285 chr1:154531184-154531194 chr1:154531279-154531287
31	TAF1	chr1:154530993-154531781	PFSK-1	brain:	n/a	n/a
32	GATA3	chr1:154530934-154531969	A549	lung:	n/a	n/a
33	POLR2A	chr1:154530945-154531811	A549	lung:	n/a	n/a
34	USF1	chr1:154531105-154531774	GM12878	blood:	n/a	chr1:154531270-154531291 chr1:154531276-154531285 chr1:154531277-154531286 chr1:154531274-154531287 chr1:154531459-154531470 chr1:154531203-154531219 chr1:154531276-154531285
35	MYC	chr1:154531017-154532512	A549	lung:	n/a	chr1:154531276-154531285 chr1:154531356-154531366 chr1:154531184-154531194 chr1:154531279-154531287
36	NRF1	chr1:154531221-154531725	GM12878	blood:	n/a	chr1:154531535-154531544 chr1:154531442-154531453
37	ZNF143	chr1:154531225-154532352	H1-hESC	embryonic stem cell:	n/a	chr1:154531521-154531531
38	MAFK	chr1:154531335-154532349	HepG2	liver:	n/a	chr1:154532045-154532060 chr1:154531682-154531698
39	EGR1	chr1:154531073-154531707	ECC-1	luminal epithelium:	n/a	chr1:154531259-154531269 chr1:154531185-154531195 chr1:154531536-154531549 chr1:154531131-154531140 chr1:154531261-154531274 chr1:154531534-154531544
40	EP300	chr1:154531148-154531763	GM12878	blood:	n/a	chr1:154531201-154531217 chr1:154531211-154531227 chr1:154531159-154531168 chr1:154531620-154531636
41	MAZ	chr1:154530601-154532317	K562	blood:	n/a	chr1:154531276-154531285 chr1:154531184-154531194 chr1:154531279-154531287
42	POLR2A	chr1:154530952-154532339	HCT-116	colon:	n/a	n/a
43	BHLHE40	chr1:154531103-154532376	GM12878	blood:	n/a	chr1:154531270-154531291 chr1:154531276-154531285 chr1:154531277-154531286 chr1:154531274-154531287 chr1:154531203-154531219 chr1:154531276-154531285
44	ELF1	chr1:154530442-154531761	GM12878	blood:	n/a	chr1:154531130-154531143 chr1:154531070-154531082 chr1:154531519-154531531 chr1:154531161-154531170 chr1:154531185-154531197
45	MAX	chr1:154531115-154531637	GM12878	blood:	n/a	chr1:154531276-154531285 chr1:154531356-154531366 chr1:154531184-154531194 chr1:154531279-154531287
46	YY1	chr1:154530958-154532344	ECC-1	luminal epithelium:	n/a	chr1:154531535-154531544 chr1:154531206-154531217 chr1:154531153-154531161 chr1:154531161-154531170 chr1:154531203-154531217 chr1:154531183-154531197 chr1:154531142-154531164 chr1:154531147-154531166 chr1:154531255-154531269 chr1:154531159-154531173
47	POLR2A	chr1:154531064-154531917	U87	brain:	n/a	n/a
48	ELF1	chr1:154530978-154531677	HepG2	liver:	n/a	chr1:154531130-154531143 chr1:154531070-154531082 chr1:154531519-154531531 chr1:154531161-154531170 chr1:154531185-154531197
49	GTF2F1	chr1:154531185-154532275	H1-hESC	embryonic stem cell:	n/a	n/a
50	TCF12	chr1:154531064-154531899	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:154531564-154531614	HRCEpiC	kidney:	n/a
2	chr1:154531564-154531614	RPTEC	kidney:	n/a
3	chr1:154531564-154531614	PrEC	prostate:	n/a
4	chr1:154531564-154531614	GM19239	blood:	n/a
5	chr1:154531564-154531614	GM06990	blood:	n/a
6	chr1:154531564-154531614	HCT-116	colon:	n/a
7	chr1:154531564-154531614	HCPEpiC	choroid plexus:	n/a
8	chr1:154531564-154531614	NHBE	bronchial:	n/a
9	chr1:154531564-154531614	CMK	blood:	n/a
10	chr1:154531564-154531614	HIPEpiC	eye:	n/a
11	chr1:154531564-154531614	A549	lung:	n/a
12	chr1:154531564-154531614	BE2_C	brain:	n/a
13	chr1:154531564-154531614	HCM	heart:	n/a
14	chr1:154531564-154531614	MCF10A-Er-Src	breast:	n/a
15	chr1:154531564-154531614	AG09319	gingival:	n/a
16	chr1:154531564-154531614	HMEC	breast:	n/a
17	chr1:154531564-154531614	AG09309	skin:	n/a
18	chr1:154531564-154531614	LNCaP	prostate:	n/a
19	chr1:154531564-154531614	SAEC	small airway:	n/a
20	chr1:154531564-154531614	HRPEpiC	eye:	n/a
21	chr1:154531564-154531614	SK-N-MC	brain:	n/a
22	chr1:154531564-154531614	Hela-S3	cervix:	n/a
23	chr1:154531564-154531614	HEK293	kidney:	embryo
24	chr1:154531564-154531614	PANC-1	pancreas:	n/a
25	chr1:154531564-154531614	BJ	skin:	n/a
26	chr1:154531564-154531614	NHDF-neo	bronchial:	n/a
27	chr1:154531564-154531614	HL-60	blood:	n/a
28	chr1:154531564-154531614	MCF-7	breast:	n/a
29	chr1:154531564-154531614	GM12891	blood:	n/a
30	chr1:154531564-154531614	NB4	blood:	n/a
31	chr1:154531564-154531614	NH-A	brain:	n/a
32	chr1:154531564-154531614	HPAEpiC	pulmonary alveolar:	n/a
33	chr1:154531564-154531614	Hepatocyte	liver:	n/a
34	chr1:154531564-154531614	SKMC	muscle:	n/a
35	chr1:154531564-154531614	AG04450	lung:	fetal
36	chr1:154531564-154531614	NT2-D1	testis:	n/a
37	chr1:154531564-154531614	GM12878	blood:	n/a
38	chr1:154531564-154531614	SK-N-SH	brain:	n/a
39	chr1:154531564-154531614	SK-N-SH_RA	brain:	n/a
40	chr1:154531564-154531614	HRE	kidney:	n/a
41	chr1:154531564-154531614	H1-hESC	embryonic stem cell:	embryo
42	chr1:154531564-154531614	HAEpiC	amniotic membrane:	n/a
43	chr1:154531564-154531614	U87	brain:	n/a
44	chr1:154531564-154531614	K562	blood:	n/a
45	chr1:154531564-154531614	PFSK-1	brain:	n/a
46	chr1:154531564-154531614	HEEpiC	esophagus:	n/a
47	chr1:154531564-154531614	AG04449	skin:	fetal
48	chr1:154531564-154531614	AoSMC	blood vessel:	n/a
49	chr1:154531564-154531614	ProgFib	skin:	n/a
50	chr1:154531564-154531614	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:154473384..154476326-chr1:154529885..154532539,2	MCF-7	breast:
2	chr1:154531510..154533485-chr1:154539706..154542838,3	MCF-7	breast:
3	chr1:154163875..154165876-chr1:154529636..154532185,2	MCF-7	breast:
4	chr1:154530922..154531876-chr3:48754303..48754928,2	HCT-116	colon:
5	chr1:154505955..154508916-chr1:154529670..154532236,2	K562	blood:
6	chr1:154529667..154532782-chr1:154942768..154945185,3	MCF-7	breast:
7	chr1:154531125..154531942-chr10:35415007..35415704,2	Hela-S3	cervix:
8	chr1:154531579..154532180-chr1:154850720..154851668,3	K562	blood:
9	chr1:154191162..154194521-chr1:154529038..154532016,3	MCF-7	breast:
10	chr1:154530350..154531883-chr1:154574415..154576930,2	MCF-7	breast:
11	chr1:154528898..154533098-chr1:154907799..154911445,7	MCF-7	breast:
12	chr1:154529851..154531893-chr1:154548972..154552165,3	MCF-7	breast:
13	chr1:154529703..154532693-chr1:155057067..155059987,2	K562	blood:
14	chr1:154530639..154532673-chr1:154599012..154601442,2	K562	blood:
15	chr1:154531587..154533271-chr1:154842628..154845356,2	K562	blood:
16	chr1:154530842..154531643-chr12:27090977..27091858,2	Hela-S3	cervix:
17	chr1:154530233..154532966-chr1:154538204..154541561,3	K562	blood:
18	chr1:154529028..154532359-chr1:155034427..155037689,4	MCF-7	breast:
19	chr1:154529257..154532572-chr1:154598516..154601356,4	MCF-7	breast:
20	chr1:154530233..154533708-chr1:154538204..154541561,4	K562	blood:
21	chr1:154531434..154533129-chr1:154974211..154976130,2	MCF-7	breast:
22	chr1:154529929..154534088-chr1:154598976..154602957,6	MCF-7	breast:
23	chr1:154528881..154534687-chr1:154578685..154583746,8	MCF-7	breast:
24	chr1:154450828..154453659-chr1:154529713..154531945,2	MCF-7	breast:

Variant related genes	Relation type
UBE2Q1	TF binding region
UBE2Q1	CpG island
ENSG00000230534	Chromatin interaction
ENSG00000270361	Chromatin interaction
ENSG00000160691	Chromatin interaction
ENSG00000163239	Chromatin interaction
ENSG00000160710	Chromatin interaction
ENSG00000163344	Chromatin interaction
ENSG00000233875	Chromatin interaction
ENSG00000160716	Chromatin interaction
ENSG00000243364	Chromatin interaction
ENSG00000111790	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000143549	Chromatin interaction
ENSG00000143603	Chromatin interaction
ENSG00000169291	Chromatin interaction
ENSG00000251246	Chromatin interaction
ENSG00000064102	Chromatin interaction
ENSG00000068745	Chromatin interaction
ENSG00000143590	Chromatin interaction
ENSG00000160685	Chromatin interaction
ENSG00000273110	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000143537	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	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	esv3392983	chr1:154529853-154532901	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
4	esv3407675	chr1:154530078-154532176	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
5	esv3405335	chr1:154530628-154531726	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	27 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	chr1:154528800-154532000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:154529000-154532200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr1:154529200-154531800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:154529200-154532000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:154529200-154532200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:154529400-154531800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:154529400-154532200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr1:154529600-154531800	Active TSS	Esophagus	oesophagus
9	chr1:154529600-154532000	Active TSS	Aorta	Aorta
10	chr1:154529600-154532200	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:154529800-154531800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr1:154529800-154531800	Active TSS	A549	lung
13	chr1:154529800-154532000	Active TSS	Lung	lung
14	chr1:154530000-154531800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:154530000-154531800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:154530000-154531800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:154530200-154531800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:154530200-154531800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:154530200-154531800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:154530200-154531800	Active TSS	Colon Smooth Muscle	Colon
21	chr1:154530200-154532000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:154530200-154532000	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr1:154530200-154532200	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr1:154530200-154532200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr1:154530200-154532200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr1:154530200-154532200	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr1:154530200-154532200	Active TSS	Fetal Kidney	kidney
28	chr1:154530400-154531800	Active TSS	Brain Anterior Caudate	brain
29	chr1:154530400-154531800	Active TSS	Brain Hippocampus Middle	brain
30	chr1:154530400-154531800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:154530400-154531800	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr1:154530400-154531800	Active TSS	Spleen	Spleen
33	chr1:154530400-154532000	Active TSS	Gastric	stomach
34	chr1:154530400-154532000	Active TSS	Ovary	ovary
35	chr1:154530400-154532000	Active TSS	Psoas Muscle	Psoas
36	chr1:154530400-154532000	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr1:154530400-154532000	Active TSS	Small Intestine	intestine
38	chr1:154530600-154531800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:154530600-154531800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:154530600-154531800	Active TSS	Brain Angular Gyrus	brain
41	chr1:154530600-154532000	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr1:154530600-154532000	Active TSS	Brain Substantia Nigra	brain
43	chr1:154530600-154532000	Active TSS	Thymus	Thymus
44	chr1:154530600-154532200	Active TSS	Brain Cingulate Gyrus	brain
45	chr1:154530600-154532200	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr1:154531000-154531800	Transcr. at gene 5' and 3'	Right Atrium	heart
47	chr1:154531400-154531800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:154531400-154532000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:154531400-154532200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr1:154531400-154532200	Flanking Active TSS	Primary B cells from cord blood	blood

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