Variant report

Variant	rs587594166
Chromosome Location	chr1:150521965-150521966
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:121)
CpG islands
(count:61)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:121 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr1:150520942-150522069	K562	blood:	n/a	n/a
2	POLR2A	chr1:150521363-150522170	HepG2	liver:	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	POLR2A	chr1:150521828-150521982	HepG2	liver:	n/a	n/a
9	CTCF	chr1:150521880-150522030	SAEC	small airway:	n/a	n/a
10	RAD21	chr1:150521938-150522395	A549	lung:	n/a	n/a
11	HEY1	chr1:150521007-150522178	K562	blood:	n/a	chr1:150521994-150522009
12	POLR2A	chr1:150521816-150522036	HepG2	liver:	n/a	n/a
13	IRF1	chr1:150521587-150521996	K562	blood:	n/a	chr1:150521765-150521779
14	TBP	chr1:150520967-150522150	K562	blood:	n/a	n/a
15	NR2F2	chr1:150521821-150522610	K562	blood:	n/a	n/a
16	RAD21	chr1:150521812-150521968	K562	blood:	n/a	n/a
17	POLR2A	chr1:150520827-150522839	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr1:150521350-150522092	HepG2	liver:	n/a	n/a
19	GABPA	chr1:150521832-150522391	H1-hESC	embryonic stem cell:	n/a	n/a
20	TEAD4	chr1:150521919-150522356	HepG2	liver:	n/a	n/a
21	MAX	chr1:150521138-150521968	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr1:150521819-150522013	HepG2	liver:	n/a	n/a
23	TAF1	chr1:150521341-150522216	K562	blood:	n/a	n/a
24	MAZ	chr1:150521008-150523521	K562	blood:	n/a	chr1:150522785-150522795
25	MYC	chr1:150521087-150522110	K562	blood:	n/a	n/a
26	EGR1	chr1:150521509-150522043	K562	blood:	n/a	chr1:150522000-150522010
27	REST	chr1:150521840-150521970	K562	blood:	n/a	n/a
28	POLR2A	chr1:150521043-150522056	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr1:150521067-150522697	Hela-S3	cervix:	n/a	n/a
30	TAF1	chr1:150521252-150522042	HepG2	liver:	n/a	n/a
31	SIN3AK20	chr1:150521794-150522057	K562	blood:	n/a	n/a
32	ELF1	chr1:150521944-150522188	K562	blood:	n/a	chr1:150521994-150522006
33	POLR2A	chr1:150521347-150522102	HCT-116	colon:	n/a	n/a
34	POLR2A	chr1:150521822-150523160	PANC-1	pancreas:	n/a	n/a
35	TEAD4	chr1:150521911-150522316	H1-hESC	embryonic stem cell:	n/a	n/a
36	JUND	chr1:150521025-150522032	K562	blood:	n/a	chr1:150521300-150521310 chr1:150521300-150521310
37	POLR2A	chr1:150521060-150522089	HCT-116	colon:	n/a	n/a
38	MAX	chr1:150520903-150522868	K562	blood:	n/a	chr1:150522785-150522795
39	UBTF	chr1:150521054-150522220	K562	blood:	n/a	n/a
40	ZMIZ1	chr1:150521833-150522087	K562	blood:	n/a	n/a
41	ZBTB7A	chr1:150521276-150522391	K562	blood:	n/a	n/a
42	BHLHE40	chr1:150521045-150522329	K562	blood:	n/a	n/a
43	POLR2A	chr1:150520901-150527655	K562	blood:	n/a	n/a
44	POLR2A	chr1:150520969-150522210	PFSK-1	brain:	n/a	n/a
45	POLR2A	chr1:150521891-150521968	MCF-7	breast:	n/a	n/a
46	TEAD4	chr1:150521909-150522346	K562	blood:	n/a	n/a
47	TBL1XR1	chr1:150520962-150522391	K562	blood:	n/a	n/a
48	HEY1	chr1:150521796-150521999	HepG2	liver:	n/a	n/a
49	E2F6	chr1:150521108-150522600	K562	blood:	n/a	chr1:150521427-150521437
50	POLR2A	chr1:150521058-150525512	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:150521958-150522008	BJ	skin:	n/a
2	chr1:150521958-150522008	HRE	kidney:	n/a
3	chr1:150521958-150522008	HPAEpiC	pulmonary alveolar:	n/a
4	chr1:150521958-150522008	HAEpiC	amniotic membrane:	n/a
5	chr1:150521958-150522008	SAEC	small airway:	n/a
6	chr1:150521958-150522008	AG09319	gingival:	n/a
7	chr1:150521958-150522008	PrEC	prostate:	n/a
8	chr1:150521958-150522008	BE2_C	brain:	n/a
9	chr1:150521958-150522008	HRPEpiC	eye:	n/a
10	chr1:150521958-150522008	HCF	heart:	n/a
11	chr1:150521958-150522008	AG04449	skin:	fetal
12	chr1:150521958-150522008	H1-hESC	embryonic stem cell:	embryo
13	chr1:150521958-150522008	MCF-7	breast:	n/a
14	chr1:150521958-150522008	NT2-D1	testis:	n/a
15	chr1:150521958-150522008	GM12891	blood:	n/a
16	chr1:150521958-150522008	AG04450	lung:	fetal
17	chr1:150521958-150522008	GM12878	blood:	n/a
18	chr1:150521958-150522008	K562	blood:	n/a
19	chr1:150521958-150522008	HRCEpiC	kidney:	n/a
20	chr1:150521958-150522008	SK-N-MC	brain:	n/a
21	chr1:150521958-150522008	NHBE	bronchial:	n/a
22	chr1:150521958-150522008	NB4	blood:	n/a
23	chr1:150521958-150522008	SK-N-SH_RA	brain:	n/a
24	chr1:150521958-150522008	Hela-S3	cervix:	n/a
25	chr1:150521958-150522008	T-47D	breast:	n/a
26	chr1:150521958-150522008	HCT-116	colon:	n/a
27	chr1:150521958-150522008	Jurkat	blood:	n/a
28	chr1:150521958-150522008	AoSMC	blood vessel:	n/a
29	chr1:150521958-150522008	U87	brain:	n/a
30	chr1:150521958-150522008	HEK293	kidney:	embryo
31	chr1:150521958-150522008	ovcar-3	ovarian:	n/a
32	chr1:150521958-150522008	ProgFib	skin:	n/a
33	chr1:150521958-150522008	IMR90	lung:	fetal
34	chr1:150521958-150522008	Hepatocyte	liver:	n/a
35	chr1:150521958-150522008	MCF10A-Er-Src	breast:	n/a
36	chr1:150521958-150522008	AG10803	skin:	n/a
37	chr1:150521958-150522008	PANC-1	pancreas:	n/a
38	chr1:150521958-150522008	HL-60	blood:	n/a
39	chr1:150521958-150522008	HUVEC	blood vessel:	n/a
40	chr1:150521958-150522008	GM06990	blood:	n/a
41	chr1:150521958-150522008	AG09309	skin:	n/a
42	chr1:150521958-150522008	HMEC	breast:	n/a
43	chr1:150521958-150522008	NHDF-neo	bronchial:	n/a
44	chr1:150521958-150522008	RPTEC	kidney:	n/a
45	chr1:150521958-150522008	GM19239	blood:	n/a
46	chr1:150521958-150522008	GM12892	blood:	n/a
47	chr1:150521958-150522008	LNCaP	prostate:	n/a
48	chr1:150521958-150522008	HCPEpiC	choroid plexus:	n/a
49	chr1:150521958-150522008	Caco-2	colon:	n/a
50	chr1:150521958-150522008	NH-A	brain:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150227836..150230192-chr1:150521467..150523893,3	MCF-7	breast:
2	chr1:150521569..150522101-chr17:81037080..81037984,2	Hela-S3	cervix:
3	chr1:78148599..78149427-chr1:150521664..150522241,2	Hela-S3	cervix:
4	chr1:28974550..28975376-chr1:150521802..150522571,2	Hela-S3	cervix:
5	chr1:150521379..150521971-chr12:50677163..50677877,2	NB4	blood:
6	chr1:150205674..150207849-chr1:150521366..150523683,3	K562	blood:
7	chr1:150459991..150463132-chr1:150521583..150524853,3	K562	blood:
8	chr1:150334615..150337675-chr1:150520446..150522631,3	K562	blood:
9	chr1:150521664..150522336-chr6:26020248..26020914,2	Hela-S3	cervix:
10	chr1:150521298..150527553-chr1:150548198..150553572,10	MCF-7	breast:
11	chr1:150459018..150460856-chr1:150519254..150522007,2	MCF-7	breast:
12	chr1:150518161..150524064-chr1:150532470..150535577,8	MCF-7	breast:
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:

No data

Variant related genes	Relation type
MIR4257	TF binding region
ADAMTSL4	TF binding region
MIR4257	CpG island
ADAMTSL4	CpG island
ENSG00000143420	Chromatin interaction
ENSG00000198366	Chromatin interaction
ENSG00000264508	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000118298	Chromatin interaction
ENSG00000271845	Chromatin interaction
ENSG00000036549	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000050405	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000176845	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000228126	Chromatin interaction
ENSG00000163125	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:123 , 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	chr1:150521200-150522000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:150521200-150522000	Active TSS	Primary T cells from cord blood	blood
26	chr1:150521200-150522000	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
27	chr1:150521200-150522000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:150521200-150522000	Flanking Bivalent TSS/Enh	Thymus	Thymus
29	chr1:150521200-150522000	Active TSS	A549	lung
30	chr1:150521200-150522200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:150521200-150522200	Active TSS	Fetal Stomach	stomach
32	chr1:150521200-150522200	Active TSS	Gastric	stomach
33	chr1:150521200-150522200	Active TSS	Lung	lung
34	chr1:150521200-150522200	Active TSS	Placenta Amnion	Placenta Amnion
35	chr1:150521200-150522400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
36	chr1:150521200-150522400	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr1:150521200-150522600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:150521200-150522600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr1:150521200-150522600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:150521200-150522600	Active TSS	Brain Substantia Nigra	brain
41	chr1:150521200-150522600	Active TSS	NHDF-Ad	bronchial
42	chr1:150521200-150524000	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr1:150521400-150522000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
44	chr1:150521400-150522000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:150521400-150522000	Active TSS	Primary monocytes fromperipheralblood	blood
46	chr1:150521400-150522000	Active TSS	Primary hematopoietic stem cells	blood
47	chr1:150521400-150522000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:150521400-150522000	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr1:150521400-150522000	Active TSS	Liver	Liver
50	chr1:150521400-150522000	Active TSS	Brain Anterior Caudate	brain

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