Variant report

Variant	rs587645085
Chromosome Location	chr1:150946976-150946977
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	YY1	chr1:150946713-150947081	SK-N-SH_RA	brain:	n/a	chr1:150946900-150946911 chr1:150946901-150946915 chr1:150946826-150946837 chr1:150946759-150946770 chr1:150946991-150947002 chr1:150946906-150946915
2	MAX	chr1:150943251-150948012	MCF-7	breast:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150944384-150944393 chr1:150946655-150946664
3	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
4	UBTF	chr1:150945726-150948108	K562	blood:	n/a	n/a
5	TAF1	chr1:150946385-150947194	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAZ	chr1:150945740-150948029	IMR90	lung:	n/a	chr1:150947366-150947376 chr1:150946655-150946664
7	MAZ	chr1:150946550-150947933	K562	blood:	n/a	chr1:150947366-150947376 chr1:150946655-150946664
8	MAX	chr1:150946041-150947532	K562	blood:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
9	HEY1	chr1:150946424-150947638	K562	blood:	n/a	chr1:150947361-150947376 chr1:150947432-150947447 chr1:150947110-150947125 chr1:150947376-150947391
10	POLR2A	chr1:150946355-150947626	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr1:150946773-150947650	K562	blood:	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	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	chr1:150946683-150947516	GM10847	blood:	n/a	n/a
17	YY1	chr1:150946753-150947046	HCT-116	colon:	n/a	chr1:150946900-150946911 chr1:150946901-150946915 chr1:150946826-150946837 chr1:150946759-150946770 chr1:150946991-150947002 chr1:150946906-150946915
18	TAF1	chr1:150946844-150947601	K562	blood:	n/a	n/a
19	POLR2A	chr1:150945815-150947589	Hela-S3	cervix:	n/a	n/a
20	CHD1	chr1:150946895-150947064	GM12878	blood:	n/a	n/a
21	EGR1	chr1:150946877-150947367	K562	blood:	n/a	n/a
22	POLR2A	chr1:150946108-150947925	GM12892	blood:	n/a	n/a
23	POLR2A	chr1:150946152-150947574	GM18505	blood:	n/a	n/a
24	POLR2A	chr1:150946453-150947518	GM19099	blood:	n/a	n/a
25	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
26	POLR2A	chr1:150946919-150947638	HCT-116	colon:	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	TAF1	chr1:150946317-150947173	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAZ	chr1:150945968-150947485	Hela-S3	cervix:	n/a	chr1:150947366-150947376 chr1:150946655-150946664
31	MAX	chr1:150945835-150947595	K562	blood:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
32	EGR1	chr1:150946870-150947145	GM12878	blood:	n/a	n/a
33	POLR2A	chr1:150946949-150947596	PFSK-1	brain:	n/a	n/a
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	chr1:150946854-150947620	MCF-7	breast:	n/a	n/a
36	POLR2A	chr1:150946508-150947654	ECC-1	luminal epithelium:	n/a	n/a
37	EGR1	chr1:150946881-150947407	K562	blood:	n/a	chr1:150947365-150947375
38	POLR2A	chr1:150946962-150947512	Gliobla	brain:	n/a	n/a
39	TCF3	chr1:150946973-150947435	GM12878	blood:	n/a	n/a
40	POLR2A	chr1:150945618-150947671	HL-60	blood:	n/a	n/a
41	MAX	chr1:150946078-150947475	Hela-S3	cervix:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
42	CTCF	chr1:150946878-150947208	K562	blood:	n/a	n/a
43	POLR2A	chr1:150946394-150947578	GM18951	blood:	n/a	n/a
44	CTCF	chr1:150946960-150947110	GM12869	blood:	n/a	n/a
45	PML	chr1:150946926-150947664	MCF-7	breast:	n/a	chr1:150947480-150947488
46	MAX	chr1:150945481-150947984	HepG2	liver:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
47	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
48	ZBTB7A	chr1:150946399-150947955	K562	blood:	n/a	n/a
49	POLR2A	chr1:150946880-150947549	HUVEC	blood vessel:	n/a	n/a
50	HMGN3	chr1:150946052-150947918	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:150946971-150947021	ProgFib	skin:	n/a
2	chr1:150946971-150947021	AG09319	gingival:	n/a
3	chr1:150946971-150947021	HIPEpiC	eye:	n/a
4	chr1:150946971-150947021	GM19239	blood:	n/a
5	chr1:150946971-150947021	HRPEpiC	eye:	n/a
6	chr1:150946971-150947021	NHDF-neo	bronchial:	n/a
7	chr1:150946971-150947021	BE2_C	brain:	n/a
8	chr1:150946971-150947021	Hela-S3	cervix:	n/a
9	chr1:150946971-150947021	HRCEpiC	kidney:	n/a
10	chr1:150946971-150947021	K562	blood:	n/a
11	chr1:150946971-150947021	RPTEC	kidney:	n/a
12	chr1:150946971-150947021	AG09309	skin:	n/a
13	chr1:150946971-150947021	BJ	skin:	n/a
14	chr1:150946971-150947021	AG04449	skin:	fetal
15	chr1:150946971-150947021	NH-A	brain:	n/a
16	chr1:150946971-150947021	HUVEC	blood vessel:	n/a
17	chr1:150946971-150947021	Hepatocyte	liver:	n/a
18	chr1:150946971-150947021	HepG2	liver:	n/a
19	chr1:150946971-150947021	MCF10A-Er-Src	breast:	n/a
20	chr1:150946971-150947021	A549	lung:	n/a
21	chr1:150946971-150947021	MCF-7	breast:	n/a
22	chr1:150946971-150947021	SKMC	muscle:	n/a
23	chr1:150946971-150947021	NT2-D1	testis:	n/a
24	chr1:150946971-150947021	H1-hESC	embryonic stem cell:	embryo
25	chr1:150946971-150947021	PANC-1	pancreas:	n/a
26	chr1:150946971-150947021	HCPEpiC	choroid plexus:	n/a
27	chr1:150946971-150947021	HNPCEpiC	eye:	n/a
28	chr1:150946971-150947021	HCF	heart:	n/a
29	chr1:150946971-150947021	GM06990	blood:	n/a
30	chr1:150946971-150947021	LNCaP	prostate:	n/a
31	chr1:150946971-150947021	AG10803	skin:	n/a
32	chr1:150946971-150947021	SK-N-SH_RA	brain:	n/a
33	chr1:150946971-150947021	T-47D	breast:	n/a
34	chr1:150946971-150947021	HPAEpiC	pulmonary alveolar:	n/a
35	chr1:150946971-150947021	HCT-116	colon:	n/a
36	chr1:150946971-150947021	ovcar-3	ovarian:	n/a
37	chr1:150946971-150947021	NHBE	bronchial:	n/a
38	chr1:150946971-150947021	GM12891	blood:	n/a
39	chr1:150946971-150947021	HEEpiC	esophagus:	n/a
40	chr1:150946971-150947021	PrEC	prostate:	n/a
41	chr1:150946971-150947021	U87	brain:	n/a
42	chr1:150946971-150947021	HMEC	breast:	n/a
43	chr1:150946971-150947021	HAEpiC	amniotic membrane:	n/a
44	chr1:150946971-150947021	HCM	heart:	n/a
45	chr1:150946971-150947021	AG04450	lung:	fetal
46	chr1:150946971-150947021	Caco-2	colon:	n/a
47	chr1:150946971-150947021	CMK	blood:	n/a
48	chr1:150946971-150947021	ECC-1	luminal epithelium:	n/a
49	chr1:150946971-150947021	IMR90	lung:	fetal
50	chr1:150946971-150947021	PFSK-1	brain:	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	chr1:150946695..150947428-chr11:64052228..64052944,2	Hela-S3	cervix:
4	chr1:150946206..150948952-chr1:151031959..151033620,2	K562	blood:
5	chr1:150942078..150949693-chr1:150976791..150984782,24	MCF-7	breast:
6	chr1:150532877..150534407-chr1:150944654..150947502,2	MCF-7	breast:
7	chr1:150946136..150947648-chr1:151031480..151034167,2	MCF-7	breast:
8	chr1:150944222..150949507-chr1:150975860..150982521,8	K562	blood:
9	chr1:150549534..150551689-chr1:150945917..150947994,2	MCF-7	breast:
10	chr1:150945380..150948952-chr1:151032100..151034454,3	K562	blood:
11	chr1:150944409..150948293-chr1:150968315..150970666,3	MCF-7	breast:
12	chr1:150601091..150602624-chr1:150945367..150947119,2	MCF-7	breast:
13	chr1:150667811..150671175-chr1:150944483..150949055,4	MCF-7	breast:
14	chr1:150532195..150535413-chr1:150944658..150948005,3	MCF-7	breast:
15	chr1:150944568..150948169-chr1:151041647..151044581,4	MCF-7	breast:
16	chr1:150847696..150850504-chr1:150946094..150948149,2	K562	blood:
17	chr1:150943930..150948676-chr1:151041268..151044275,5	MCF-7	breast:
18	chr1:150946897..150947894-chr14:54863216..54863946,2	Hela-S3	cervix:
19	chr1:150945812..150948969-chr1:150979293..150982183,4	K562	blood:
20	chr1:150846616..150850276-chr1:150942456..150948926,7	MCF-7	breast:
21	chr1:150800839..150803595-chr1:150945444..150947443,2	K562	blood:
22	chr1:150205150..150208917-chr1:150946080..150950396,4	MCF-7	breast:
23	chr1:150943913..150947004-chr1:151018258..151022109,4	MCF-7	breast:
24	chr1:150802146..150804523-chr1:150946488..150948912,2	MCF-7	breast:

Variant related genes	Relation type
CERS2	TF binding region
CERS2	CpG island
ENSG00000143363	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000143457	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000143420	Chromatin interaction
ENSG00000143443	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000143379	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000143437	Chromatin interaction
ENSG00000100526	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	chr1:150945200-150947000	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr1:150945600-150947800	Active TSS	HSMMtube	muscle
3	chr1:150945600-150947800	Active TSS	NHDF-Ad	bronchial
4	chr1:150945600-150948000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr1:150945600-150948000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:150945800-150947000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:150945800-150947800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:150945800-150947800	Active TSS	A549	lung
9	chr1:150945800-150948000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:150945800-150948000	Active TSS	Fetal Kidney	kidney
11	chr1:150945800-150948200	Active TSS	H9 Cell Line	embryonic stem cell
12	chr1:150945800-150948400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr1:150946000-150947600	Active TSS	Lung	lung
14	chr1:150946000-150947800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:150946000-150947800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:150946000-150947800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:150946000-150947800	Active TSS	Muscle Satellite Cultured Cells	--
18	chr1:150946000-150947800	Active TSS	Liver	Liver
19	chr1:150946000-150947800	Active TSS	Pancreas	Pancrea
20	chr1:150946000-150947800	Active TSS	Hela-S3	cervix
21	chr1:150946000-150947800	Active TSS	NHLF	lung
22	chr1:150946000-150948000	Active TSS	Aorta	Aorta
23	chr1:150946000-150948000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr1:150946000-150948000	Active TSS	Ovary	ovary
25	chr1:150946000-150948200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:150946000-150948200	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr1:150946000-150948200	Active TSS	HSMM	muscle
28	chr1:150946000-150948600	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr1:150946200-150947600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:150946200-150947600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:150946200-150947600	Active TSS	Gastric	stomach
32	chr1:150946200-150947800	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr1:150946200-150947800	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr1:150946200-150947800	Active TSS	Placenta Amnion	Placenta Amnion
35	chr1:150946200-150947800	Active TSS	Psoas Muscle	Psoas
36	chr1:150946200-150947800	Active TSS	Rectal Smooth Muscle	rectum
37	chr1:150946200-150947800	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr1:150946200-150947800	Active TSS	Thymus	Thymus
39	chr1:150946200-150947800	Active TSS	Spleen	Spleen
40	chr1:150946200-150947800	Active TSS	NH-A	brain
41	chr1:150946200-150947800	Active TSS	NHEK	skin
42	chr1:150946200-150948000	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr1:150946200-150948000	Active TSS	Fetal Lung	lung
44	chr1:150946200-150948000	Active TSS	Small Intestine	intestine
45	chr1:150946200-150948200	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr1:150946200-150948200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:150946200-150948200	Active TSS	Brain Cingulate Gyrus	brain
48	chr1:150946200-150948200	Active TSS	Colon Smooth Muscle	Colon
49	chr1:150946200-150948400	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr1:150946400-150947200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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