Variant report

Variant	rs587594679
Chromosome Location	chr1:150947488-150947489
allele	C/T
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	MAX	chr1:150943251-150948012	MCF-7	breast:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150944384-150944393 chr1:150946655-150946664
2	PBX3	chr1:150947095-150947624	SK-N-SH	brain:	n/a	n/a
3	UBTF	chr1:150945726-150948108	K562	blood:	n/a	n/a
4	MAZ	chr1:150945740-150948029	IMR90	lung:	n/a	chr1:150947366-150947376 chr1:150946655-150946664
5	MAZ	chr1:150946550-150947933	K562	blood:	n/a	chr1:150947366-150947376 chr1:150946655-150946664
6	TBP	chr1:150947262-150947531	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr1:150946041-150947532	K562	blood:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
8	POLR2A	chr1:150947058-150947812	U87	brain:	n/a	n/a
9	POLR2A	chr1:150947412-150947521	K562	blood:	n/a	n/a
10	HEY1	chr1:150946424-150947638	K562	blood:	n/a	chr1:150947361-150947376 chr1:150947432-150947447 chr1:150947110-150947125 chr1:150947376-150947391
11	POLR2A	chr1:150946355-150947626	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr1:150946773-150947650	K562	blood:	n/a	n/a
13	BACH1	chr1:150947379-150947615	H1-hESC	embryonic stem cell:	n/a	n/a
14	REST	chr1:150945933-150948001	H1-neurons	neurons:	n/a	chr1:150947435-150947445
15	POLR2A	chr1:150945109-150948108	K562	blood:	n/a	n/a
16	POLR2A	chr1:150947031-150947613	HepG2	liver:	n/a	n/a
17	POLR2A	chr1:150946683-150947516	GM10847	blood:	n/a	n/a
18	TAF1	chr1:150946844-150947601	K562	blood:	n/a	n/a
19	POLR2A	chr1:150945815-150947589	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr1:150946108-150947925	GM12892	blood:	n/a	n/a
21	POLR2A	chr1:150947037-150947560	A549	lung:	n/a	n/a
22	POLR2A	chr1:150946152-150947574	GM18505	blood:	n/a	n/a
23	POLR2A	chr1:150946453-150947518	GM19099	blood:	n/a	n/a
24	YY1	chr1:150946578-150947642	K562	blood:	n/a	chr1:150946900-150946911 chr1:150946901-150946915 chr1:150946826-150946837 chr1:150946759-150946770 chr1:150946991-150947002 chr1:150947114-150947128 chr1:150946906-150946915
25	POLR2A	chr1:150947028-150947778	A549	lung:	n/a	n/a
26	ZMIZ1	chr1:150947394-150947563	K562	blood:	n/a	n/a
27	POLR2A	chr1:150947481-150947574	GM12878	blood:	n/a	n/a
28	POLR2A	chr1:150946919-150947638	HCT-116	colon:	n/a	n/a
29	POLR2A	chr1:150946404-150947605	A549	lung:	n/a	n/a
30	CCNT2	chr1:150946187-150947970	K562	blood:	n/a	chr1:150947425-150947434 chr1:150947112-150947121
31	CHD1	chr1:150947476-150947544	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr1:150945835-150947595	K562	blood:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
33	CHD2	chr1:150947375-150947515	HepG2	liver:	n/a	n/a
34	POLR2A	chr1:150946949-150947596	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr1:150946979-150947636	K562	blood:	n/a	n/a
36	YY1	chr1:150946582-150947597	HepG2	liver:	n/a	chr1:150946900-150946911 chr1:150946901-150946915 chr1:150946826-150946837 chr1:150946759-150946770 chr1:150946991-150947002 chr1:150947114-150947128 chr1:150946906-150946915
37	POLR2A	chr1:150946854-150947620	MCF-7	breast:	n/a	n/a
38	POLR2A	chr1:150946508-150947654	ECC-1	luminal epithelium:	n/a	n/a
39	CREB1	chr1:150947048-150947585	A549	lung:	n/a	n/a
40	MAX	chr1:150947018-150947531	ECC-1	luminal epithelium:	n/a	chr1:150947366-150947376
41	POLR2A	chr1:150946962-150947512	Gliobla	brain:	n/a	n/a
42	YY1	chr1:150947223-150947557	SK-N-SH_RA	brain:	n/a	n/a
43	ZBTB7A	chr1:150947233-150947605	HepG2	liver:	n/a	n/a
44	POLR2A	chr1:150945618-150947671	HL-60	blood:	n/a	n/a
45	JUND	chr1:150947437-150947548	H1-hESC	embryonic stem cell:	n/a	chr1:150947498-150947507
46	MAX	chr1:150947156-150947640	A549	lung:	n/a	chr1:150947366-150947376
47	ZNF384	chr1:150947258-150947501	K562	blood:	n/a	n/a
48	POLR2A	chr1:150946394-150947578	GM18951	blood:	n/a	n/a
49	ZNF143	chr1:150947289-150947499	H1-hESC	embryonic stem cell:	n/a	chr1:150947352-150947370 chr1:150947406-150947416
50	PML	chr1:150946926-150947664	MCF-7	breast:	n/a	chr1:150947480-150947488

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:150947442-150947492	CMK	blood:	n/a
2	chr1:150947442-150947492	AG09319	gingival:	n/a
3	chr1:150947442-150947492	HIPEpiC	eye:	n/a
4	chr1:150947442-150947492	MCF-7	breast:	n/a
5	chr1:150947442-150947492	GM12892	blood:	n/a
6	chr1:150947442-150947492	HCT-116	colon:	n/a
7	chr1:150947442-150947492	LNCaP	prostate:	n/a
8	chr1:150947442-150947492	IMR90	lung:	fetal
9	chr1:150947442-150947492	SAEC	small airway:	n/a
10	chr1:150947442-150947492	ovcar-3	ovarian:	n/a
11	chr1:150947442-150947492	A549	lung:	n/a
12	chr1:150947442-150947492	NB4	blood:	n/a
13	chr1:150947442-150947492	Jurkat	blood:	n/a
14	chr1:150947442-150947492	AG10803	skin:	n/a
15	chr1:150947442-150947492	ECC-1	luminal epithelium:	n/a
16	chr1:150947442-150947492	H1-hESC	embryonic stem cell:	embryo
17	chr1:150947442-150947492	SKMC	muscle:	n/a
18	chr1:150947442-150947492	SK-N-MC	brain:	n/a
19	chr1:150947442-150947492	PrEC	prostate:	n/a
20	chr1:150947442-150947492	BJ	skin:	n/a
21	chr1:150947442-150947492	Hela-S3	cervix:	n/a
22	chr1:150947442-150947492	BE2_C	brain:	n/a
23	chr1:150947442-150947492	NH-A	brain:	n/a
24	chr1:150947442-150947492	HCPEpiC	choroid plexus:	n/a
25	chr1:150947442-150947492	HCM	heart:	n/a
26	chr1:150947442-150947492	NHDF-neo	bronchial:	n/a
27	chr1:150947442-150947492	NHBE	bronchial:	n/a
28	chr1:150947442-150947492	U87	brain:	n/a
29	chr1:150947442-150947492	Caco-2	colon:	n/a
30	chr1:150947442-150947492	HRCEpiC	kidney:	n/a
31	chr1:150947442-150947492	HEEpiC	esophagus:	n/a
32	chr1:150947442-150947492	GM19239	blood:	n/a
33	chr1:150947442-150947492	HNPCEpiC	eye:	n/a
34	chr1:150947442-150947492	GM12878	blood:	n/a
35	chr1:150947442-150947492	RPTEC	kidney:	n/a
36	chr1:150947442-150947492	PFSK-1	brain:	n/a
37	chr1:150947442-150947492	HRPEpiC	eye:	n/a
38	chr1:150947442-150947492	HMEC	breast:	n/a
39	chr1:150947442-150947492	HCF	heart:	n/a
40	chr1:150947442-150947492	HPAEpiC	pulmonary alveolar:	n/a
41	chr1:150947442-150947492	HL-60	blood:	n/a
42	chr1:150947442-150947492	AoSMC	blood vessel:	n/a
43	chr1:150947442-150947492	ProgFib	skin:	n/a
44	chr1:150947442-150947492	AG09309	skin:	n/a
45	chr1:150947442-150947492	T-47D	breast:	n/a
46	chr1:150947442-150947492	MCF10A-Er-Src	breast:	n/a
47	chr1:150947442-150947492	AG04450	lung:	fetal
48	chr1:150947442-150947492	NT2-D1	testis:	n/a
49	chr1:150947442-150947492	HEK293	kidney:	embryo
50	chr1:150947442-150947492	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150946206..150948952-chr1:151031959..151033620,2	K562	blood:
2	chr1:150942078..150949693-chr1:150976791..150984782,24	MCF-7	breast:
3	chr1:150532877..150534407-chr1:150944654..150947502,2	MCF-7	breast:
4	chr1:150946136..150947648-chr1:151031480..151034167,2	MCF-7	breast:
5	chr1:150944222..150949507-chr1:150975860..150982521,8	K562	blood:
6	chr1:150549534..150551689-chr1:150945917..150947994,2	MCF-7	breast:
7	chr1:150945380..150948952-chr1:151032100..151034454,3	K562	blood:
8	chr1:150944409..150948293-chr1:150968315..150970666,3	MCF-7	breast:
9	chr1:150667811..150671175-chr1:150944483..150949055,4	MCF-7	breast:
10	chr1:150532195..150535413-chr1:150944658..150948005,3	MCF-7	breast:
11	chr1:150944568..150948169-chr1:151041647..151044581,4	MCF-7	breast:
12	chr1:150847696..150850504-chr1:150946094..150948149,2	K562	blood:
13	chr1:150943930..150948676-chr1:151041268..151044275,5	MCF-7	breast:
14	chr1:150946897..150947894-chr14:54863216..54863946,2	Hela-S3	cervix:
15	chr1:150945812..150948969-chr1:150979293..150982183,4	K562	blood:
16	chr1:150846616..150850276-chr1:150942456..150948926,7	MCF-7	breast:
17	chr1:150205150..150208917-chr1:150946080..150950396,4	MCF-7	breast:
18	chr1:149859214..149861702-chr1:150947048..150949834,2	MCF-7	breast:
19	chr1:150802146..150804523-chr1:150946488..150948912,2	MCF-7	breast:

Variant related genes	Relation type
CERS2	TF binding region
CERS2	CpG island
ENSG00000203804	Chromatin interaction
ENSG00000143457	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000143437	Chromatin interaction
ENSG00000100526	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000197622	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv1008496	chr1:150845827-150970656	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv522317	chr1:150933723-150974162	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
6	esv3405761	chr1:150945953-150948501	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr1:150945600-150947800	Active TSS	HSMMtube	muscle
2	chr1:150945600-150947800	Active TSS	NHDF-Ad	bronchial
3	chr1:150945600-150948000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr1:150945600-150948000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:150945800-150947800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:150945800-150947800	Active TSS	A549	lung
7	chr1:150945800-150948000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:150945800-150948000	Active TSS	Fetal Kidney	kidney
9	chr1:150945800-150948200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr1:150945800-150948400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr1:150946000-150947600	Active TSS	Lung	lung
12	chr1:150946000-150947800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:150946000-150947800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:150946000-150947800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:150946000-150947800	Active TSS	Muscle Satellite Cultured Cells	--
16	chr1:150946000-150947800	Active TSS	Liver	Liver
17	chr1:150946000-150947800	Active TSS	Pancreas	Pancrea
18	chr1:150946000-150947800	Active TSS	Hela-S3	cervix
19	chr1:150946000-150947800	Active TSS	NHLF	lung
20	chr1:150946000-150948000	Active TSS	Aorta	Aorta
21	chr1:150946000-150948000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr1:150946000-150948000	Active TSS	Ovary	ovary
23	chr1:150946000-150948200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:150946000-150948200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr1:150946000-150948200	Active TSS	HSMM	muscle
26	chr1:150946000-150948600	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:150946200-150947600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:150946200-150947600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:150946200-150947600	Active TSS	Gastric	stomach
30	chr1:150946200-150947800	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr1:150946200-150947800	Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr1:150946200-150947800	Active TSS	Placenta Amnion	Placenta Amnion
33	chr1:150946200-150947800	Active TSS	Psoas Muscle	Psoas
34	chr1:150946200-150947800	Active TSS	Rectal Smooth Muscle	rectum
35	chr1:150946200-150947800	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr1:150946200-150947800	Active TSS	Thymus	Thymus
37	chr1:150946200-150947800	Active TSS	Spleen	Spleen
38	chr1:150946200-150947800	Active TSS	NH-A	brain
39	chr1:150946200-150947800	Active TSS	NHEK	skin
40	chr1:150946200-150948000	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr1:150946200-150948000	Active TSS	Fetal Lung	lung
42	chr1:150946200-150948000	Active TSS	Small Intestine	intestine
43	chr1:150946200-150948200	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr1:150946200-150948200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:150946200-150948200	Active TSS	Brain Cingulate Gyrus	brain
46	chr1:150946200-150948200	Active TSS	Colon Smooth Muscle	Colon
47	chr1:150946200-150948400	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr1:150946400-150947600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:150946400-150947600	Active TSS	Primary T cells from cord blood	blood
50	chr1:150946400-150947600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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