Variant report

Variant	rs587742477
Chromosome Location	chr1:150521619-150521620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:220)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:220 , 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	CBX3	chr1:150520825-150521775	K562	blood:	n/a	n/a
2	JUND	chr1:150521604-150521791	H1-hESC	embryonic stem cell:	n/a	n/a
3	RCOR1	chr1:150520942-150522069	K562	blood:	n/a	n/a
4	POLR2A	chr1:150521363-150522170	HepG2	liver:	n/a	n/a
5	ZBTB7A	chr1:150521239-150522376	K562	blood:	n/a	n/a
6	POLR2A	chr1:150521182-150522151	ProgFib	skin:	n/a	n/a
7	UBTF	chr1:150520994-150524023	K562	blood:	n/a	n/a
8	RCOR1	chr1:150520919-150521973	IMR90	lung:	n/a	n/a
9	POLR2A	chr1:150520907-150522658	MCF10A-Er-Src	breast:	n/a	n/a
10	SIN3AK20	chr1:150521282-150521792	K562	blood:	n/a	n/a
11	YY1	chr1:150521127-150521795	K562	blood:	n/a	n/a
12	HEY1	chr1:150521007-150522178	K562	blood:	n/a	chr1:150521994-150522009
13	IRF1	chr1:150521587-150521996	K562	blood:	n/a	chr1:150521765-150521779
14	TBP	chr1:150520967-150522150	K562	blood:	n/a	n/a
15	CTCF	chr1:150521576-150521775	HepG2	liver:	n/a	n/a
16	CTCF	chr1:150521618-150521728	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr1:150521580-150521730	GM12869	blood:	n/a	n/a
18	POLR2A	chr1:150520827-150522839	PANC-1	pancreas:	n/a	n/a
19	ZBTB7A	chr1:150521541-150521828	HepG2	liver:	n/a	n/a
20	POLR2A	chr1:150521350-150522092	HepG2	liver:	n/a	n/a
21	MAX	chr1:150521138-150521968	ECC-1	luminal epithelium:	n/a	n/a
22	MAX	chr1:150520899-150521917	MCF-7	breast:	n/a	n/a
23	REST	chr1:150521376-150521766	PANC-1	pancreas:	n/a	chr1:150521403-150521416
24	CEBPB	chr1:150521393-150521633	A549	lung:	n/a	n/a
25	CTCF	chr1:150521613-150521762	GM12892	blood:	n/a	n/a
26	CTCFL	chr1:150521373-150521742	K562	blood:	n/a	n/a
27	POLR2A	chr1:150521432-150521776	HepG2	liver:	n/a	n/a
28	GTF2F1	chr1:150521086-150521742	K562	blood:	n/a	n/a
29	EP300	chr1:150521533-150521671	K562	blood:	n/a	n/a
30	TAF1	chr1:150521341-150522216	K562	blood:	n/a	n/a
31	MAX	chr1:150521010-150521778	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr1:150521397-150521961	A549	lung:	n/a	n/a
33	REST	chr1:150521361-150521705	PFSK-1	brain:	n/a	chr1:150521403-150521416
34	MAZ	chr1:150521008-150523521	K562	blood:	n/a	chr1:150522785-150522795
35	MYC	chr1:150521087-150522110	K562	blood:	n/a	n/a
36	EGR1	chr1:150521509-150522043	K562	blood:	n/a	chr1:150522000-150522010
37	E2F4	chr1:150521412-150521649	MCF10A-Er-Src	breast:	n/a	chr1:150521427-150521437
38	CTCF	chr1:150521580-150521730	AG09319	gingival:	n/a	n/a
39	POLR2A	chr1:150521043-150522056	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr1:150521067-150522697	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr1:150521213-150521742	GM12878	blood:	n/a	n/a
42	POLR2A	chr1:150521404-150521807	SK-N-SH	brain:	n/a	n/a
43	TAF1	chr1:150521252-150522042	HepG2	liver:	n/a	n/a
44	HNF4G	chr1:150521340-150521644	HepG2	liver:	n/a	n/a
45	CTCF	chr1:150521480-150521630	HFF-Myc	foreskin:	n/a	n/a
46	HCFC1	chr1:150521276-150521957	K562	blood:	n/a	n/a
47	POLR2A	chr1:150521347-150522102	HCT-116	colon:	n/a	n/a
48	SIN3AK20	chr1:150521363-150521772	SK-N-SH	brain:	n/a	n/a
49	CEBPB	chr1:150521329-150521642	IMR90	lung:	n/a	n/a
50	CTCF	chr1:150521292-150521797	K562	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150518651..150520158-chr1:150520276..150521871,2	MCF-7	breast:
2	chr1:150227836..150230192-chr1:150521467..150523893,3	MCF-7	breast:
3	chr1:150521569..150522101-chr17:81037080..81037984,2	Hela-S3	cervix:
4	chr1:150521379..150521971-chr12:50677163..50677877,2	NB4	blood:
5	chr1:150205674..150207849-chr1:150521366..150523683,3	K562	blood:
6	chr1:150459991..150463132-chr1:150521583..150524853,3	K562	blood:
7	chr1:150520959..150521729-chr3:64009113..64009945,2	MCF-7	breast:
8	chr1:150334615..150337675-chr1:150520446..150522631,3	K562	blood:
9	chr1:150521298..150527553-chr1:150548198..150553572,10	MCF-7	breast:
10	chr1:150459018..150460856-chr1:150519254..150522007,2	MCF-7	breast:
11	chr1:150518161..150524064-chr1:150532470..150535577,8	MCF-7	breast:
12	chr1:150479220..150481120-chr1:150520088..150521820,2	K562	blood:
13	chr1:150520253..150522845-chr1:150539005..150541527,2	MCF-7	breast:
14	chr1:150458118..150461224-chr1:150521416..150523335,4	K562	blood:
15	chr1:150520854..150524966-chr1:150599341..150603058,4	K562	blood:
16	chr1:150487333..150489679-chr1:150520233..150523176,3	MCF-7	breast:
17	chr1:150521288..150521796-chr14:20938138..20938813,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
MIR4257	TF binding region
ADAMTSL4	TF binding region
ENSG00000225996	TF binding region
ENSG00000264508	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000118298	Chromatin interaction
ENSG00000176845	Chromatin interaction
ENSG00000050405	Chromatin interaction
ENSG00000198805	Chromatin interaction
ENSG00000163636	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000143369	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000271845	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000143420	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000228126	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh 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	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
3	esv1814231	chr1:150479528-150540117	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	71 gene(s)	inside rSNPs	diseases
4	esv3437004	chr1:150520753-150523301	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150520800-150522200	Active TSS	Hela-S3	cervix
2	chr1:150520800-150522400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:150520800-150523000	Active TSS	K562	blood
4	chr1:150521000-150522000	Active TSS	Esophagus	oesophagus
5	chr1:150521000-150522000	Active TSS	Left Ventricle	heart
6	chr1:150521000-150522200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:150521000-150522200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:150521000-150522200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:150521000-150522200	Bivalent/Poised TSS	Fetal Brain Female	brain
10	chr1:150521000-150522200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr1:150521000-150522200	Active TSS	Ovary	ovary
12	chr1:150521000-150522400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:150521000-150522400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:150521000-150522400	Active TSS	Brain Hippocampus Middle	brain
15	chr1:150521000-150522400	Active TSS	Psoas Muscle	Psoas
16	chr1:150521000-150522400	Active TSS	NHLF	lung
17	chr1:150521000-150522600	Active TSS	Colon Smooth Muscle	Colon
18	chr1:150521000-150522600	Active TSS	Right Atrium	heart
19	chr1:150521000-150522600	Active TSS	Small Intestine	intestine
20	chr1:150521000-150522800	Active TSS	Aorta	Aorta
21	chr1:150521000-150522800	Active TSS	HSMMtube	muscle
22	chr1:150521000-150523000	Active TSS	HSMM	muscle
23	chr1:150521000-150523200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr1:150521200-150521800	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr1:150521200-150521800	Flanking Active TSS	Fetal Lung	lung
26	chr1:150521200-150522000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:150521200-150522000	Active TSS	Primary T cells from cord blood	blood
28	chr1:150521200-150522000	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
29	chr1:150521200-150522000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:150521200-150522000	Flanking Bivalent TSS/Enh	Thymus	Thymus
31	chr1:150521200-150522000	Active TSS	A549	lung
32	chr1:150521200-150522200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:150521200-150522200	Active TSS	Fetal Stomach	stomach
34	chr1:150521200-150522200	Active TSS	Gastric	stomach
35	chr1:150521200-150522200	Active TSS	Lung	lung
36	chr1:150521200-150522200	Active TSS	Placenta Amnion	Placenta Amnion
37	chr1:150521200-150522400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr1:150521200-150522400	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr1:150521200-150522600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:150521200-150522600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
41	chr1:150521200-150522600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:150521200-150522600	Active TSS	Brain Substantia Nigra	brain
43	chr1:150521200-150522600	Active TSS	NHDF-Ad	bronchial
44	chr1:150521200-150524000	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr1:150521400-150521800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:150521400-150521800	Bivalent/Poised TSS	Primary B cells from peripheral blood	blood
47	chr1:150521400-150521800	Weak transcription	Fetal Heart	heart
48	chr1:150521400-150521800	Active TSS	GM12878-XiMat	blood
49	chr1:150521400-150522000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
50	chr1:150521400-150522000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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