Variant report

Variant	rs530106473
Chromosome Location	chr1:155145442-155145443
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:237)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:237 , 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	CTBP2	chr1:155145250-155147768	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:155145163-155146432	GM19099	blood:	n/a	n/a
3	ZBTB7A	chr1:155145335-155147406	ECC-1	luminal epithelium:	n/a	chr1:155147194-155147203
4	ZBTB7A	chr1:155145254-155146084	ECC-1	luminal epithelium:	n/a	n/a
5	TCF12	chr1:155145336-155146103	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr1:155145201-155145992	K562	blood:	n/a	n/a
7	MXI1	chr1:155145121-155146368	GM12878	blood:	n/a	chr1:155146252-155146261 chr1:155146254-155146263
8	POLR2A	chr1:155145009-155146049	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr1:155145092-155145927	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr1:155145011-155146629	A549	lung:	n/a	n/a
11	POLR2A	chr1:155144892-155146732	U87	brain:	n/a	n/a
12	REST	chr1:155145211-155147210	H1-neurons	neurons:	n/a	chr1:155146997-155147010 chr1:155146997-155147010
13	POLR2A	chr1:155145179-155146092	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:155145173-155146048	GM15510	blood:	n/a	n/a
15	POLR2A	chr1:155145164-155145958	GM19193	blood:	n/a	n/a
16	POLR2A	chr1:155145166-155145981	K562	blood:	n/a	n/a
17	TBP	chr1:155145153-155146023	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr1:155144879-155146055	HUVEC	blood vessel:	n/a	n/a
19	ELF1	chr1:155145395-155146036	HepG2	liver:	n/a	n/a
20	POLR2A	chr1:155145075-155146056	A549	lung:	n/a	n/a
21	POLR2A	chr1:155145051-155146060	GM12892	blood:	n/a	n/a
22	SIN3A	chr1:155145086-155147719	H1-hESC	embryonic stem cell:	n/a	n/a
23	MYC	chr1:155145413-155145471	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr1:155145129-155146073	GM18951	blood:	n/a	n/a
25	CTCF	chr1:155145360-155145510	NHEK	skin:	n/a	n/a
26	SIX5	chr1:155145072-155146341	A549	lung:	n/a	n/a
27	ELK1	chr1:155145326-155145911	K562	blood:	n/a	n/a
28	CCNT2	chr1:155145162-155145953	K562	blood:	n/a	n/a
29	POLR2A	chr1:155145214-155145973	MCF-7	breast:	n/a	n/a
30	POLR2A	chr1:155145059-155147546	H1-neurons	neurons:	n/a	n/a
31	MYC	chr1:155144975-155146342	K562	blood:	n/a	chr1:155146251-155146266 chr1:155146252-155146262 chr1:155146252-155146261 chr1:155146253-155146262 chr1:155146253-155146263
32	CTCF	chr1:155145300-155145450	SK-N-SH_RA	brain:	n/a	n/a
33	POLR2A	chr1:155145196-155146080	PANC-1	pancreas:	n/a	n/a
34	TEAD4	chr1:155144947-155146080	K562	blood:	n/a	n/a
35	REST	chr1:155145193-155146346	A549	lung:	n/a	n/a
36	UBTF	chr1:155145200-155146125	K562	blood:	n/a	n/a
37	POLR2A	chr1:155145281-155145988	GM12891	blood:	n/a	n/a
38	GABPA	chr1:155145317-155146227	MCF-7	breast:	n/a	n/a
39	TAF1	chr1:155145294-155145928	K562	blood:	n/a	n/a
40	POLR2A	chr1:155144967-155146033	K562	blood:	n/a	n/a
41	HDAC2	chr1:155145267-155146183	MCF-7	breast:	n/a	n/a
42	POLR2A	chr1:155145104-155146062	A549	lung:	n/a	n/a
43	TAF1	chr1:155145168-155146058	H1-hESC	embryonic stem cell:	n/a	n/a
44	PML	chr1:155145113-155146151	GM12878	blood:	n/a	n/a
45	POLR2A	chr1:155145292-155145904	HepG2	liver:	n/a	n/a
46	ZEB1	chr1:155145312-155146150	GM12878	blood:	n/a	n/a
47	CREB1	chr1:155145044-155146175	GM12878	blood:	n/a	n/a
48	POLR2A	chr1:155145185-155145989	ECC-1	luminal epithelium:	n/a	n/a
49	CTCF	chr1:155144872-155146843	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr1:155145125-155145961	Hela-S3	cervix:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155102095..155105261-chr1:155144437..155147447,3	K562	blood:
2	chr1:155056284..155060443-chr1:155143066..155147437,8	MCF-7	breast:
3	chr1:155143901..155153030-chr1:155191166..155199183,23	MCF-7	breast:
4	chr1:155056491..155066482-chr1:155136760..155147519,21	K562	blood:
5	chr1:155144108..155147671-chr1:155293137..155296373,4	MCF-7	breast:
6	chr1:155050575..155052612-chr1:155144958..155146789,2	MCF-7	breast:
7	chr1:155095314..155110392-chr1:155134312..155151496,72	MCF-7	breast:
8	chr1:155145241..155146117-chr6:32939671..32940179,2	HCT-116	colon:
9	chr1:155056751..155059603-chr1:155143653..155146036,8	MCF-7	breast:
10	chr1:155021786..155024285-chr1:155144264..155145774,2	MCF-7	breast:
11	chr1:155055553..155060043-chr1:155139937..155145817,8	K562	blood:
12	chr1:155145241..155146055-chr1:249119766..249120747,2	Hela-S3	cervix:
13	chr1:155143848..155145847-chr1:155292739..155294361,2	K562	blood:
14	chr1:155105664..155110180-chr1:155143584..155151850,15	MCF-7	breast:
15	chr1:155107108..155109985-chr1:155144527..155147858,5	K562	blood:
16	chr1:155144509..155147724-chr1:155241916..155244574,3	MCF-7	breast:
17	chr1:155021809..155025289-chr1:155144477..155147497,3	K562	blood:
18	chr1:155094769..155105017-chr1:155135344..155151845,46	MCF-7	breast:
19	chr1:155145257..155146073-chr20:43882743..43883438,2	Hela-S3	cervix:
20	chr1:155144282..155146428-chr1:155196994..155199261,3	K562	blood:
21	chr1:155015970..155018698-chr1:155144403..155146699,2	K562	blood:

No data

Variant related genes	Relation type
TRIM46	TF binding region
KRTCAP2	TF binding region
ENSG00000143590	Chromatin interaction
ENSG00000176444	Chromatin interaction
ENSG00000160753	Chromatin interaction
ENSG00000175137	Chromatin interaction
ENSG00000232093	Chromatin interaction
ENSG00000124107	Chromatin interaction
ENSG00000143537	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000169242	Chromatin interaction
ENSG00000264500	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000169241	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
3	nsv464084	chr1:155082298-155194980	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
4	nsv547961	chr1:155082298-155194980	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
5	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	434 gene(s)	inside rSNPs	diseases
6	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
7	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
8	nsv470741	chr1:155115260-155230131	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
9	nsv1010146	chr1:155119096-155201064	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
10	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
11	nsv8447	chr1:155144629-155156937	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	22 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	chr1:155144600-155145600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:155144600-155146000	Active TSS	HSMMtube	muscle
3	chr1:155144600-155146200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:155144600-155147600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:155144800-155145800	Active TSS	Psoas Muscle	Psoas
6	chr1:155144800-155146000	Active TSS	Colon Smooth Muscle	Colon
7	chr1:155144800-155147200	Active TSS	HSMM	muscle
8	chr1:155144800-155147400	Active TSS	H1 Cell Line	embryonic stem cell
9	chr1:155144800-155147600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:155144800-155147800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr1:155144800-155147800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:155145000-155145800	Active TSS	Lung	lung
13	chr1:155145000-155145800	Active TSS	Ovary	ovary
14	chr1:155145000-155145800	Active TSS	Right Ventricle	heart
15	chr1:155145000-155145800	Active TSS	Small Intestine	intestine
16	chr1:155145000-155145800	Active TSS	K562	blood
17	chr1:155145000-155146200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:155145000-155146200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:155145000-155146400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:155145000-155146400	Active TSS	NHDF-Ad	bronchial
21	chr1:155145000-155146600	Active TSS	Aorta	Aorta
22	chr1:155145000-155146800	Active TSS	Esophagus	oesophagus
23	chr1:155145000-155146800	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr1:155145000-155146800	Active TSS	A549	lung
25	chr1:155145000-155146800	Active TSS	NHLF	lung
26	chr1:155145000-155147200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:155145000-155147200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:155145000-155147400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:155145000-155147400	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr1:155145000-155147400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:155145000-155147600	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr1:155145000-155147600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:155145000-155147600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:155145000-155147800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:155145000-155147800	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr1:155145000-155147800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:155145000-155147800	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr1:155145000-155148000	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr1:155145000-155148000	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr1:155145200-155145600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:155145200-155145800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:155145200-155145800	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr1:155145200-155145800	Active TSS	Muscle Satellite Cultured Cells	--
44	chr1:155145200-155145800	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr1:155145200-155145800	Active TSS	Duodenum Mucosa	Duodenum
46	chr1:155145200-155145800	Active TSS	Fetal Heart	heart
47	chr1:155145200-155145800	Active TSS	Fetal Intestine Small	intestine
48	chr1:155145200-155145800	Active TSS	Fetal Kidney	kidney
49	chr1:155145200-155145800	Active TSS	Placenta	Placenta
50	chr1:155145200-155145800	Active TSS	Left Ventricle	heart

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