Variant report

Variant	rs587713295
Chromosome Location	chr1:150946674-150946675
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	YY1	chr1:150946641-150947436	GM12878	blood:	n/a	chr1:150946900-150946911 chr1:150946901-150946915 chr1:150946826-150946837 chr1:150946759-150946770 chr1:150946991-150947002 chr1:150947114-150947128 chr1:150946906-150946915
3	UBTF	chr1:150945726-150948108	K562	blood:	n/a	n/a
4	TAF1	chr1:150946385-150947194	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAZ	chr1:150945740-150948029	IMR90	lung:	n/a	chr1:150947366-150947376 chr1:150946655-150946664
6	MAZ	chr1:150946550-150947933	K562	blood:	n/a	chr1:150947366-150947376 chr1:150946655-150946664
7	MAX	chr1:150946041-150947532	K562	blood:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
8	POLR2A	chr1:150946604-150946718	Gliobla	brain:	n/a	n/a
9	HEY1	chr1:150946424-150947638	K562	blood:	n/a	chr1:150947361-150947376 chr1:150947432-150947447 chr1:150947110-150947125 chr1:150947376-150947391
10	ZNF263	chr1:150944461-150946776	HEK293-T-REx	kidney:	n/a	chr1:150945506-150945515
11	POLR2A	chr1:150946355-150947626	HUVEC	blood vessel:	n/a	n/a
12	JUND	chr1:150946434-150947094	A549	lung:	n/a	n/a
13	POLR2A	chr1:150946475-150947305	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr1:150946087-150946777	H1-hESC	embryonic stem cell:	n/a	n/a
15	REST	chr1:150945933-150948001	H1-neurons	neurons:	n/a	chr1:150947435-150947445
16	CTCF	chr1:150946600-150946750	GM12867	blood:	n/a	n/a
17	POLR2A	chr1:150945109-150948108	K562	blood:	n/a	n/a
18	POLR2A	chr1:150945815-150947589	Hela-S3	cervix:	n/a	n/a
19	ELF1	chr1:150946297-150946688	K562	blood:	n/a	chr1:150946523-150946536
20	MYC	chr1:150946465-150946726	MCF-7	breast:	n/a	chr1:150946541-150946551 chr1:150946655-150946664
21	POLR2A	chr1:150946108-150947925	GM12892	blood:	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	RCOR1	chr1:150946550-150946690	K562	blood:	n/a	n/a
26	POLR2A	chr1:150945610-150946721	MCF-7	breast:	n/a	n/a
27	POLR2A	chr1:150946404-150947605	A549	lung:	n/a	n/a
28	CCNT2	chr1:150946187-150947970	K562	blood:	n/a	chr1:150947425-150947434 chr1:150947112-150947121
29	MAX	chr1:150945809-150946904	A549	lung:	n/a	chr1:150946541-150946551 chr1:150946655-150946664
30	POLR2A	chr1:150945876-150946955	Hela-S3	cervix:	n/a	n/a
31	TAF1	chr1:150946317-150947173	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAZ	chr1:150945968-150947485	Hela-S3	cervix:	n/a	chr1:150947366-150947376 chr1:150946655-150946664
33	MAX	chr1:150945835-150947595	K562	blood:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
34	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
35	POLR2A	chr1:150946508-150947654	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr1:150945738-150946785	Hela-S3	cervix:	n/a	n/a
37	RUNX3	chr1:150946587-150946956	GM12878	blood:	n/a	n/a
38	POLR2A	chr1:150946138-150946808	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr1:150945618-150947671	HL-60	blood:	n/a	n/a
40	MAX	chr1:150946078-150947475	Hela-S3	cervix:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
41	CTCF	chr1:150946660-150946810	GM12874	blood:	n/a	n/a
42	POLR2A	chr1:150946394-150947578	GM18951	blood:	n/a	n/a
43	POLR2A	chr1:150946632-150946924	K562	blood:	n/a	n/a
44	MAX	chr1:150945481-150947984	HepG2	liver:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
45	YY1	chr1:150946404-150947201	GM12892	blood:	n/a	chr1:150946900-150946911 chr1:150946901-150946915 chr1:150946826-150946837 chr1:150946759-150946770 chr1:150946991-150947002 chr1:150947114-150947128 chr1:150946906-150946915
46	MAX	chr1:150946238-150946857	ECC-1	luminal epithelium:	n/a	chr1:150946541-150946551 chr1:150946655-150946664
47	MAX	chr1:150946458-150946754	A549	lung:	n/a	chr1:150946541-150946551 chr1:150946655-150946664
48	ZBTB7A	chr1:150946399-150947955	K562	blood:	n/a	n/a
49	HMGN3	chr1:150946052-150947918	K562	blood:	n/a	n/a
50	TAF1	chr1:150946401-150947645	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:150946674-150946724	U87	brain:	n/a
2	chr1:150946674-150946724	SK-N-SH_RA	brain:	n/a
3	chr1:150946674-150946724	ProgFib	skin:	n/a
4	chr1:150946674-150946724	NB4	blood:	n/a
5	chr1:150946674-150946724	NT2-D1	testis:	n/a
6	chr1:150946674-150946724	HCT-116	colon:	n/a
7	chr1:150946674-150946724	Caco-2	colon:	n/a
8	chr1:150946674-150946724	RPTEC	kidney:	n/a
9	chr1:150946674-150946724	HCM	heart:	n/a
10	chr1:150946674-150946724	H1-hESC	embryonic stem cell:	embryo
11	chr1:150946674-150946724	IMR90	lung:	fetal
12	chr1:150946674-150946724	HUVEC	blood vessel:	n/a
13	chr1:150946674-150946724	Jurkat	blood:	n/a
14	chr1:150946674-150946724	HNPCEpiC	eye:	n/a
15	chr1:150946674-150946724	GM19239	blood:	n/a
16	chr1:150946674-150946724	NHDF-neo	bronchial:	n/a
17	chr1:150946674-150946724	LNCaP	prostate:	n/a
18	chr1:150946674-150946724	A549	lung:	n/a
19	chr1:150946674-150946724	HEEpiC	esophagus:	n/a
20	chr1:150946674-150946724	HepG2	liver:	n/a
21	chr1:150946674-150946724	AoSMC	blood vessel:	n/a
22	chr1:150946674-150946724	HRPEpiC	eye:	n/a
23	chr1:150946674-150946724	PANC-1	pancreas:	n/a
24	chr1:150946674-150946724	HIPEpiC	eye:	n/a
25	chr1:150946674-150946724	HRE	kidney:	n/a
26	chr1:150946674-150946724	HPAEpiC	pulmonary alveolar:	n/a
27	chr1:150946674-150946724	ovcar-3	ovarian:	n/a
28	chr1:150946674-150946724	HRCEpiC	kidney:	n/a
29	chr1:150946674-150946724	PFSK-1	brain:	n/a
30	chr1:150946674-150946724	AG04449	skin:	fetal
31	chr1:150946674-150946724	AG09319	gingival:	n/a
32	chr1:150946674-150946724	HCPEpiC	choroid plexus:	n/a
33	chr1:150946674-150946724	AG04450	lung:	fetal
34	chr1:150946674-150946724	NH-A	brain:	n/a
35	chr1:150946674-150946724	HL-60	blood:	n/a
36	chr1:150946674-150946724	HMEC	breast:	n/a
37	chr1:150946674-150946724	GM12892	blood:	n/a
38	chr1:150946674-150946724	BE2_C	brain:	n/a
39	chr1:150946674-150946724	Hepatocyte	liver:	n/a
40	chr1:150946674-150946724	SK-N-SH	brain:	n/a
41	chr1:150946674-150946724	AG09309	skin:	n/a
42	chr1:150946674-150946724	AG10803	skin:	n/a
43	chr1:150946674-150946724	GM06990	blood:	n/a
44	chr1:150946674-150946724	GM12891	blood:	n/a
45	chr1:150946674-150946724	T-47D	breast:	n/a
46	chr1:150946674-150946724	HCF	heart:	n/a
47	chr1:150946674-150946724	SKMC	muscle:	n/a
48	chr1:150946674-150946724	NHBE	bronchial:	n/a
49	chr1:150946674-150946724	HEK293	kidney:	embryo
50	chr1:150946674-150946724	CMK	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150942867..150944822-chr1:150945093..150947347,2	K562	blood:
2	chr1:150897692..150900384-chr1:150944923..150947345,3	K562	blood:
3	chr1:150946206..150948952-chr1:151031959..151033620,2	K562	blood:
4	chr1:150942078..150949693-chr1:150976791..150984782,24	MCF-7	breast:
5	chr1:150532877..150534407-chr1:150944654..150947502,2	MCF-7	breast:
6	chr1:150946136..150947648-chr1:151031480..151034167,2	MCF-7	breast:
7	chr1:150944222..150949507-chr1:150975860..150982521,8	K562	blood:
8	chr1:150549534..150551689-chr1:150945917..150947994,2	MCF-7	breast:
9	chr1:150945380..150948952-chr1:151032100..151034454,3	K562	blood:
10	chr1:150944409..150948293-chr1:150968315..150970666,3	MCF-7	breast:
11	chr1:150601091..150602624-chr1:150945367..150947119,2	MCF-7	breast:
12	chr1:150667811..150671175-chr1:150944483..150949055,4	MCF-7	breast:
13	chr1:150532195..150535413-chr1:150944658..150948005,3	MCF-7	breast:
14	chr1:150944568..150948169-chr1:151041647..151044581,4	MCF-7	breast:
15	chr1:150847696..150850504-chr1:150946094..150948149,2	K562	blood:
16	chr1:150943930..150948676-chr1:151041268..151044275,5	MCF-7	breast:
17	chr1:150945812..150948969-chr1:150979293..150982183,4	K562	blood:
18	chr1:150846616..150850276-chr1:150942456..150948926,7	MCF-7	breast:
19	chr1:150800839..150803595-chr1:150945444..150947443,2	K562	blood:
20	chr1:150205150..150208917-chr1:150946080..150950396,4	MCF-7	breast:
21	chr1:150943913..150947004-chr1:151018258..151022109,4	MCF-7	breast:
22	chr1:150802146..150804523-chr1:150946488..150948912,2	MCF-7	breast:

Variant related genes	Relation type
CERS2	TF binding region
CERS2	CpG island
ENSG00000143457	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000143443	Chromatin interaction
ENSG00000143420	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000143379	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000143437	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	chr1:150944400-150946800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:150945200-150946800	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:150945200-150947000	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr1:150945600-150946800	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr1:150945600-150947800	Active TSS	HSMMtube	muscle
6	chr1:150945600-150947800	Active TSS	NHDF-Ad	bronchial
7	chr1:150945600-150948000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr1:150945600-150948000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:150945800-150946800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:150945800-150947000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:150945800-150947800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:150945800-150947800	Active TSS	A549	lung
13	chr1:150945800-150948000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:150945800-150948000	Active TSS	Fetal Kidney	kidney
15	chr1:150945800-150948200	Active TSS	H9 Cell Line	embryonic stem cell
16	chr1:150945800-150948400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr1:150946000-150946800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:150946000-150947600	Active TSS	Lung	lung
19	chr1:150946000-150947800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:150946000-150947800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:150946000-150947800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:150946000-150947800	Active TSS	Muscle Satellite Cultured Cells	--
23	chr1:150946000-150947800	Active TSS	Liver	Liver
24	chr1:150946000-150947800	Active TSS	Pancreas	Pancrea
25	chr1:150946000-150947800	Active TSS	Hela-S3	cervix
26	chr1:150946000-150947800	Active TSS	NHLF	lung
27	chr1:150946000-150948000	Active TSS	Aorta	Aorta
28	chr1:150946000-150948000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr1:150946000-150948000	Active TSS	Ovary	ovary
30	chr1:150946000-150948200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:150946000-150948200	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr1:150946000-150948200	Active TSS	HSMM	muscle
33	chr1:150946000-150948600	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr1:150946200-150947600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:150946200-150947600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:150946200-150947600	Active TSS	Gastric	stomach
37	chr1:150946200-150947800	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr1:150946200-150947800	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr1:150946200-150947800	Active TSS	Placenta Amnion	Placenta Amnion
40	chr1:150946200-150947800	Active TSS	Psoas Muscle	Psoas
41	chr1:150946200-150947800	Active TSS	Rectal Smooth Muscle	rectum
42	chr1:150946200-150947800	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr1:150946200-150947800	Active TSS	Thymus	Thymus
44	chr1:150946200-150947800	Active TSS	Spleen	Spleen
45	chr1:150946200-150947800	Active TSS	NH-A	brain
46	chr1:150946200-150947800	Active TSS	NHEK	skin
47	chr1:150946200-150948000	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr1:150946200-150948000	Active TSS	Fetal Lung	lung
49	chr1:150946200-150948000	Active TSS	Small Intestine	intestine
50	chr1:150946200-150948200	Active TSS	iPS-18 Cell Line	embryonic stem cell

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