Variant report

Variant	rs587727576
Chromosome Location	chr1:150521287-150521288
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:144)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:144 , 50 per page) page: 1 2 3

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	RCOR1	chr1:150520942-150522069	K562	blood:	n/a	n/a
3	ZBTB7A	chr1:150521239-150522376	K562	blood:	n/a	n/a
4	POLR2A	chr1:150521182-150522151	ProgFib	skin:	n/a	n/a
5	UBTF	chr1:150520994-150524023	K562	blood:	n/a	n/a
6	RCOR1	chr1:150520919-150521973	IMR90	lung:	n/a	n/a
7	POLR2A	chr1:150520907-150522658	MCF10A-Er-Src	breast:	n/a	n/a
8	SIN3AK20	chr1:150521282-150521792	K562	blood:	n/a	n/a
9	YY1	chr1:150521127-150521795	K562	blood:	n/a	n/a
10	CTCF	chr1:150521280-150521430	GM12870	blood:	n/a	n/a
11	HEY1	chr1:150521007-150522178	K562	blood:	n/a	chr1:150521994-150522009
12	TBP	chr1:150520967-150522150	K562	blood:	n/a	n/a
13	POLR2A	chr1:150520827-150522839	PANC-1	pancreas:	n/a	n/a
14	RAD21	chr1:150521047-150521330	Hela-S3	cervix:	n/a	n/a
15	MAX	chr1:150521138-150521968	ECC-1	luminal epithelium:	n/a	n/a
16	MAX	chr1:150520899-150521917	MCF-7	breast:	n/a	n/a
17	HA-E2F1	chr1:150521097-150521585	MCF-7	breast:	n/a	chr1:150521427-150521437
18	GTF2F1	chr1:150521086-150521742	K562	blood:	n/a	n/a
19	MAX	chr1:150521010-150521778	SK-N-SH	brain:	n/a	n/a
20	MAZ	chr1:150521008-150523521	K562	blood:	n/a	chr1:150522785-150522795
21	MYC	chr1:150521087-150522110	K562	blood:	n/a	n/a
22	KAP1	chr1:150521048-150521483	U2OS	brain:	n/a	n/a
23	POLR2A	chr1:150521043-150522056	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr1:150521067-150522697	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr1:150521213-150521742	GM12878	blood:	n/a	n/a
26	TAF1	chr1:150521252-150522042	HepG2	liver:	n/a	n/a
27	HCFC1	chr1:150521276-150521957	K562	blood:	n/a	n/a
28	ZNF384	chr1:150521094-150521456	K562	blood:	n/a	n/a
29	MAFK	chr1:150521124-150521586	Hela-S3	cervix:	n/a	n/a
30	MAX	chr1:150520900-150521699	SK-N-SH	brain:	n/a	n/a
31	JUND	chr1:150521025-150522032	K562	blood:	n/a	chr1:150521300-150521310 chr1:150521300-150521310
32	MAX	chr1:150521257-150521735	HepG2	liver:	n/a	n/a
33	POLR2A	chr1:150521060-150522089	HCT-116	colon:	n/a	n/a
34	USF2	chr1:150521086-150521314	Hela-S3	cervix:	n/a	n/a
35	MAX	chr1:150520903-150522868	K562	blood:	n/a	chr1:150522785-150522795
36	UBTF	chr1:150521054-150522220	K562	blood:	n/a	n/a
37	MAX	chr1:150520957-150521819	ECC-1	luminal epithelium:	n/a	n/a
38	MXI1	chr1:150521260-150521882	HepG2	liver:	n/a	n/a
39	ZBTB7A	chr1:150521276-150522391	K562	blood:	n/a	n/a
40	BRCA1	chr1:150521046-150521574	Hela-S3	cervix:	n/a	n/a
41	BHLHE40	chr1:150521045-150522329	K562	blood:	n/a	n/a
42	POLR2A	chr1:150520901-150527655	K562	blood:	n/a	n/a
43	MAX	chr1:150521087-150521916	NB4	blood:	n/a	n/a
44	POLR2A	chr1:150520969-150522210	PFSK-1	brain:	n/a	n/a
45	TBL1XR1	chr1:150520962-150522391	K562	blood:	n/a	n/a
46	E2F6	chr1:150521108-150522600	K562	blood:	n/a	chr1:150521427-150521437
47	POLR2A	chr1:150521058-150525512	K562	blood:	n/a	n/a
48	REST	chr1:150521222-150521773	K562	blood:	n/a	chr1:150521403-150521416
49	ZMIZ1	chr1:150521072-150521506	K562	blood:	n/a	n/a
50	POLR2A	chr1:150521048-150522797	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:150521241-150521291	NHDF-neo	bronchial:	n/a
2	chr1:150521241-150521291	Caco-2	colon:	n/a
3	chr1:150521241-150521291	NHBE	bronchial:	n/a
4	chr1:150521241-150521291	PrEC	prostate:	n/a
5	chr1:150521241-150521291	NT2-D1	testis:	n/a
6	chr1:150521241-150521291	Jurkat	blood:	n/a
7	chr1:150521241-150521291	AG09309	skin:	n/a
8	chr1:150521241-150521291	AG04450	lung:	fetal
9	chr1:150521241-150521291	HepG2	liver:	n/a
10	chr1:150521241-150521291	IMR90	lung:	fetal
11	chr1:150521241-150521291	GM12878	blood:	n/a
12	chr1:150521241-150521291	AG09319	gingival:	n/a
13	chr1:150521241-150521291	HEEpiC	esophagus:	n/a
14	chr1:150521241-150521291	AoSMC	blood vessel:	n/a
15	chr1:150521241-150521291	HRCEpiC	kidney:	n/a
16	chr1:150521241-150521291	HCF	heart:	n/a
17	chr1:150521241-150521291	NB4	blood:	n/a
18	chr1:150521241-150521291	HCPEpiC	choroid plexus:	n/a
19	chr1:150521241-150521291	HEK293	kidney:	embryo
20	chr1:150521241-150521291	Hepatocyte	liver:	n/a
21	chr1:150521241-150521291	ECC-1	luminal epithelium:	n/a
22	chr1:150521241-150521291	HNPCEpiC	eye:	n/a
23	chr1:150521241-150521291	K562	blood:	n/a
24	chr1:150521241-150521291	Hela-S3	cervix:	n/a
25	chr1:150521241-150521291	GM06990	blood:	n/a
26	chr1:150521241-150521291	SK-N-SH_RA	brain:	n/a
27	chr1:150521241-150521291	BE2_C	brain:	n/a
28	chr1:150521241-150521291	AG04449	skin:	fetal
29	chr1:150521241-150521291	HUVEC	blood vessel:	n/a
30	chr1:150521241-150521291	HAEpiC	amniotic membrane:	n/a
31	chr1:150521241-150521291	ovcar-3	ovarian:	n/a
32	chr1:150521241-150521291	MCF10A-Er-Src	breast:	n/a
33	chr1:150521241-150521291	HIPEpiC	eye:	n/a
34	chr1:150521241-150521291	RPTEC	kidney:	n/a
35	chr1:150521241-150521291	HPAEpiC	pulmonary alveolar:	n/a
36	chr1:150521241-150521291	MCF-7	breast:	n/a
37	chr1:150521241-150521291	H1-hESC	embryonic stem cell:	embryo
38	chr1:150521241-150521291	ProgFib	skin:	n/a
39	chr1:150521241-150521291	A549	lung:	n/a
40	chr1:150521241-150521291	CMK	blood:	n/a
41	chr1:150521241-150521291	SKMC	muscle:	n/a
42	chr1:150521241-150521291	NH-A	brain:	n/a
43	chr1:150521241-150521291	T-47D	breast:	n/a
44	chr1:150521241-150521291	AG10803	skin:	n/a
45	chr1:150521241-150521291	HCT-116	colon:	n/a
46	chr1:150521241-150521291	SK-N-MC	brain:	n/a
47	chr1:150521241-150521291	SAEC	small airway:	n/a
48	chr1:150521241-150521291	GM12891	blood:	n/a
49	chr1:150521241-150521291	HRPEpiC	eye:	n/a
50	chr1:150521241-150521291	BJ	skin:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150518651..150520158-chr1:150520276..150521871,2	MCF-7	breast:
2	chr1:150520959..150521729-chr3:64009113..64009945,2	MCF-7	breast:
3	chr1:150334615..150337675-chr1:150520446..150522631,3	K562	blood:
4	chr1:150459018..150460856-chr1:150519254..150522007,2	MCF-7	breast:
5	chr1:150518161..150524064-chr1:150532470..150535577,8	MCF-7	breast:
6	chr1:150479220..150481120-chr1:150520088..150521820,2	K562	blood:
7	chr1:150520253..150522845-chr1:150539005..150541527,2	MCF-7	breast:
8	chr1:150520854..150524966-chr1:150599341..150603058,4	K562	blood:
9	chr1:150487333..150489679-chr1:150520233..150523176,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225996	TF binding region
MIR4257	TF binding region
ADAMTSL4	TF binding region
ENSG00000225996	CpG island
ADAMTSL4	CpG island
MIR4257	CpG island
ENSG00000163636	Chromatin interaction
ENSG00000143420	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000143369	Chromatin interaction
ENSG00000264508	Chromatin interaction
ENSG00000228126	Chromatin interaction
ENSG00000203804	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150520800-150521600	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr1:150520800-150522200	Active TSS	Hela-S3	cervix
3	chr1:150520800-150522400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:150520800-150523000	Active TSS	K562	blood
5	chr1:150521000-150521400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
6	chr1:150521000-150521400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:150521000-150521400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
8	chr1:150521000-150521400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:150521000-150521400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
10	chr1:150521000-150521400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr1:150521000-150521400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:150521000-150521400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
13	chr1:150521000-150521400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:150521000-150521400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:150521000-150521400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:150521000-150521400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr1:150521000-150521400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
18	chr1:150521000-150521400	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr1:150521000-150521400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr1:150521000-150521400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:150521000-150521400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
22	chr1:150521000-150521400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:150521000-150521400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:150521000-150521400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:150521000-150521400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr1:150521000-150521400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:150521000-150521400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:150521000-150521400	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr1:150521000-150521400	Flanking Active TSS	Liver	Liver
30	chr1:150521000-150521400	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr1:150521000-150521400	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr1:150521000-150521400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr1:150521000-150521400	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr1:150521000-150521400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr1:150521000-150521400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
36	chr1:150521000-150521400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
37	chr1:150521000-150521400	Active TSS	Fetal Kidney	kidney
38	chr1:150521000-150521400	Flanking Active TSS	Fetal Muscle Trunk	muscle
39	chr1:150521000-150521400	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr1:150521000-150521400	Flanking Active TSS	Placenta	Placenta
41	chr1:150521000-150521400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
42	chr1:150521000-150521400	Flanking Active TSS	Pancreas	Pancrea
43	chr1:150521000-150521400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr1:150521000-150521400	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr1:150521000-150521400	Flanking Active TSS	Right Ventricle	heart
46	chr1:150521000-150521400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr1:150521000-150521400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr1:150521000-150521400	Flanking Active TSS	Stomach Mucosa	stomach
49	chr1:150521000-150521400	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr1:150521000-150521400	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood

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