Variant report

Variant	rs587768564
Chromosome Location	chr1:150946909-150946910
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	CTCF	chr1:150946890-150946974	GM10266	blood:	n/a	n/a
9	MAX	chr1:150946041-150947532	K562	blood:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
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	JUND	chr1:150946434-150947094	A549	lung:	n/a	n/a
14	POLR2A	chr1:150946475-150947305	MCF10A-Er-Src	breast:	n/a	n/a
15	CTCF	chr1:150946908-150946955	Kidney_OC	kidney:	n/a	n/a
16	REST	chr1:150945933-150948001	H1-neurons	neurons:	n/a	chr1:150947435-150947445
17	POLR2A	chr1:150945109-150948108	K562	blood:	n/a	n/a
18	POLR2A	chr1:150946683-150947516	GM10847	blood:	n/a	n/a
19	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
20	TAF1	chr1:150946844-150947601	K562	blood:	n/a	n/a
21	POLR2A	chr1:150945815-150947589	Hela-S3	cervix:	n/a	n/a
22	CHD1	chr1:150946895-150947064	GM12878	blood:	n/a	n/a
23	EGR1	chr1:150946877-150947367	K562	blood:	n/a	n/a
24	POLR2A	chr1:150946108-150947925	GM12892	blood:	n/a	n/a
25	POLR2A	chr1:150946152-150947574	GM18505	blood:	n/a	n/a
26	CTCF	chr1:150946760-150946910	GM12873	blood:	n/a	n/a
27	POLR2A	chr1:150946453-150947518	GM19099	blood:	n/a	n/a
28	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
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	POLR2A	chr1:150945876-150946955	Hela-S3	cervix:	n/a	n/a
32	TAF1	chr1:150946317-150947173	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAZ	chr1:150945968-150947485	Hela-S3	cervix:	n/a	chr1:150947366-150947376 chr1:150946655-150946664
34	MAX	chr1:150945835-150947595	K562	blood:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
35	CTCF	chr1:150946760-150946910	GM12865	blood:	n/a	n/a
36	EGR1	chr1:150946870-150947145	GM12878	blood:	n/a	n/a
37	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
38	POLR2A	chr1:150946854-150947620	MCF-7	breast:	n/a	n/a
39	POLR2A	chr1:150946508-150947654	ECC-1	luminal epithelium:	n/a	n/a
40	EGR1	chr1:150946881-150947407	K562	blood:	n/a	chr1:150947365-150947375
41	RUNX3	chr1:150946587-150946956	GM12878	blood:	n/a	n/a
42	POLR2A	chr1:150945618-150947671	HL-60	blood:	n/a	n/a
43	MAX	chr1:150946078-150947475	Hela-S3	cervix:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
44	CTCF	chr1:150946878-150947208	K562	blood:	n/a	n/a
45	POLR2A	chr1:150946394-150947578	GM18951	blood:	n/a	n/a
46	POLR2A	chr1:150946632-150946924	K562	blood:	n/a	n/a
47	MAX	chr1:150945481-150947984	HepG2	liver:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
48	CTCF	chr1:150946800-150946950	GM12875	blood:	n/a	n/a
49	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
50	CTCF	chr1:150946829-150946925	GM19240	blood:	n/a	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
ENSG00000143363	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000143437	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000143379	Chromatin interaction
ENSG00000143443	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000143420	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000100526	Chromatin interaction
ENSG00000143457	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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