Variant report

Variant	rs529523535
Chromosome Location	chr1:59247500-59247501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:301)
CpG islands
(count:61)
Chromatin interactive
region (count:71)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr1:59247301-59248512	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:59244106-59251818	U87	brain:	n/a	n/a
3	POLR2A	chr1:59245147-59251676	Hela-S3	cervix:	n/a	n/a
4	SIN3AK20	chr1:59247212-59248438	MCF-7	breast:	n/a	n/a
5	MAX	chr1:59247473-59251323	GM12878	blood:	n/a	chr1:59249843-59249852
6	CTCF	chr1:59247460-59247610	HL-60	blood:	n/a	n/a
7	CTCF	chr1:59247500-59247650	WERI-Rb-1	eye:	n/a	n/a
8	POLR2A	chr1:59247151-59251494	GM12892	blood:	n/a	n/a
9	SIN3AK20	chr1:59247248-59248101	SK-N-SH	brain:	n/a	n/a
10	PML	chr1:59247342-59247965	GM12878	blood:	n/a	n/a
11	USF2	chr1:59247379-59248269	GM12878	blood:	n/a	n/a
12	RAD21	chr1:59247352-59247712	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr1:59247339-59247740	K562	blood:	n/a	n/a
14	HMGN3	chr1:59247358-59247692	K562	blood:	n/a	n/a
15	POLR2A	chr1:59243934-59251872	U87	brain:	n/a	n/a
16	CHD1	chr1:59244118-59252745	IMR90	lung:	n/a	chr1:59250203-59250213
17	POLR2A	chr1:59247234-59250280	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr1:59247500-59247650	BJ	skin:	n/a	n/a
19	HEY1	chr1:59246437-59251188	K562	blood:	n/a	chr1:59250260-59250275 chr1:59249195-59249210
20	POLR2A	chr1:59244614-59251725	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr1:59247460-59247610	HRPEpiC	eye:	n/a	n/a
22	EP300	chr1:59247464-59247726	K562	blood:	n/a	n/a
23	CTCF	chr1:59247480-59247630	K562	blood:	n/a	n/a
24	FOXM1	chr1:59247385-59247988	GM12878	blood:	n/a	n/a
25	POLR2A	chr1:59247171-59251601	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr1:59247500-59247650	GM12868	blood:	n/a	n/a
27	POLR2A	chr1:59247385-59248444	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr1:59247074-59248139	HUVEC	blood vessel:	n/a	n/a
29	ZKSCAN1	chr1:59247347-59250548	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr1:59247500-59247650	HA-sp	spinal cord:	n/a	n/a
31	MAX	chr1:59247373-59250292	H1-hESC	embryonic stem cell:	n/a	chr1:59249843-59249852
32	CHD2	chr1:59247295-59248282	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr1:59247403-59248352	GM12878	blood:	n/a	n/a
34	CTCF	chr1:59247488-59247658	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr1:59247146-59251217	HepG2	liver:	n/a	n/a
36	CTCF	chr1:59247480-59247630	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr1:59247394-59248094	MCF-7	breast:	n/a	n/a
38	RAD21	chr1:59247418-59247668	GM12878	blood:	n/a	n/a
39	POLR2A	chr1:59244523-59251294	SK-N-SH	brain:	n/a	n/a
40	HEY1	chr1:59247490-59248096	HepG2	liver:	n/a	n/a
41	POLR2A	chr1:59245241-59249887	K562	blood:	n/a	n/a
42	CTCF	chr1:59247382-59248359	K562	blood:	n/a	n/a
43	POLR2A	chr1:59247474-59247663	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr1:59247434-59247713	GM19238	blood:	n/a	n/a
45	CTCF	chr1:59247440-59247590	GM12866	blood:	n/a	n/a
46	CTCF	chr1:59247486-59247679	ProgFib	skin:	n/a	n/a
47	RFX5	chr1:59247427-59247786	Hela-S3	cervix:	n/a	n/a
48	SMC3	chr1:59247361-59247744	K562	blood:	n/a	n/a
49	CTCF	chr1:59247456-59247701	MCF-7	breast:	n/a	n/a
50	POLR2A	chr1:59247451-59251336	GM12892	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:59247487-59247537	BJ	skin:	n/a
2	chr1:59247487-59247537	U87	brain:	n/a
3	chr1:59247487-59247537	HEEpiC	esophagus:	n/a
4	chr1:59247487-59247537	HRCEpiC	kidney:	n/a
5	chr1:59247487-59247537	HAEpiC	amniotic membrane:	n/a
6	chr1:59247487-59247537	A549	lung:	n/a
7	chr1:59247487-59247537	HCPEpiC	choroid plexus:	n/a
8	chr1:59247487-59247537	AoSMC	blood vessel:	n/a
9	chr1:59247487-59247537	HMEC	breast:	n/a
10	chr1:59247487-59247537	HNPCEpiC	eye:	n/a
11	chr1:59247487-59247537	H1-hESC	embryonic stem cell:	embryo
12	chr1:59247487-59247537	PrEC	prostate:	n/a
13	chr1:59247487-59247537	K562	blood:	n/a
14	chr1:59247487-59247537	GM06990	blood:	n/a
15	chr1:59247487-59247537	GM19239	blood:	n/a
16	chr1:59247487-59247537	ProgFib	skin:	n/a
17	chr1:59247487-59247537	SK-N-MC	brain:	n/a
18	chr1:59247487-59247537	LNCaP	prostate:	n/a
19	chr1:59247487-59247537	HRPEpiC	eye:	n/a
20	chr1:59247487-59247537	SK-N-SH	brain:	n/a
21	chr1:59247487-59247537	SKMC	muscle:	n/a
22	chr1:59247487-59247537	Hepatocyte	liver:	n/a
23	chr1:59247487-59247537	NB4	blood:	n/a
24	chr1:59247487-59247537	GM12891	blood:	n/a
25	chr1:59247487-59247537	Caco-2	colon:	n/a
26	chr1:59247487-59247537	HUVEC	blood vessel:	n/a
27	chr1:59247487-59247537	CMK	blood:	n/a
28	chr1:59247487-59247537	HEK293	kidney:	embryo
29	chr1:59247487-59247537	AG09319	gingival:	n/a
30	chr1:59247487-59247537	GM12878	blood:	n/a
31	chr1:59247487-59247537	AG09309	skin:	n/a
32	chr1:59247487-59247537	HIPEpiC	eye:	n/a
33	chr1:59247487-59247537	AG04449	skin:	fetal
34	chr1:59247487-59247537	SAEC	small airway:	n/a
35	chr1:59247487-59247537	MCF-7	breast:	n/a
36	chr1:59247487-59247537	ECC-1	luminal epithelium:	n/a
37	chr1:59247487-59247537	IMR90	lung:	fetal
38	chr1:59247487-59247537	HL-60	blood:	n/a
39	chr1:59247487-59247537	PANC-1	pancreas:	n/a
40	chr1:59247487-59247537	MCF10A-Er-Src	breast:	n/a
41	chr1:59247487-59247537	BE2_C	brain:	n/a
42	chr1:59247487-59247537	Jurkat	blood:	n/a
43	chr1:59247487-59247537	AG04450	lung:	fetal
44	chr1:59247487-59247537	GM12892	blood:	n/a
45	chr1:59247487-59247537	RPTEC	kidney:	n/a
46	chr1:59247487-59247537	HepG2	liver:	n/a
47	chr1:59247487-59247537	HCM	heart:	n/a
48	chr1:59247487-59247537	AG10803	skin:	n/a
49	chr1:59247487-59247537	NT2-D1	testis:	n/a
50	chr1:59247487-59247537	NH-A	brain:	n/a

(count:71 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:59246774..59249251-chr1:59451300..59453191,2	K562	blood:
2	chr1:59245914..59247946-chr1:59568208..59571099,2	K562	blood:
3	chr1:59208975..59211483-chr1:59245941..59247562,2	MCF-7	breast:
4	chr1:59245185..59249625-chr1:59318506..59322949,5	K562	blood:
5	chr1:59245650..59249709-chr1:60164316..60166597,3	MCF-7	breast:
6	chr1:59245489..59255081-chr1:59277954..59283925,49	MCF-7	breast:
7	chr1:59245313..59247577-chr1:59481237..59483014,2	K562	blood:
8	chr1:59247150..59249652-chr1:59355694..59357549,2	MCF-7	breast:
9	chr1:59246163..59248652-chr1:59466870..59469148,2	K562	blood:
10	chr1:59247291..59249563-chr1:59804823..59806731,2	K562	blood:
11	chr1:59246529..59249235-chr1:59474703..59476422,2	K562	blood:
12	chr1:59247112..59247904-chr3:50336459..50337013,2	Hela-S3	cervix:
13	chr1:59245578..59252912-chr1:59759683..59766457,13	MCF-7	breast:
14	chr1:59246264..59248102-chr1:149855755..149857816,2	MCF-7	breast:
15	chr1:59244238..59248031-chr1:59689062..59692608,4	K562	blood:
16	chr1:59242448..59251438-chr1:59358057..59375559,39	K562	blood:
17	chr1:59245589..59247526-chr1:59439230..59441535,3	K562	blood:
18	chr1:59245136..59249509-chr1:59544104..59550391,6	K562	blood:
19	chr1:59246525..59249398-chr1:60121634..60124612,2	K562	blood:
20	chr1:59245974..59248964-chr1:60182800..60185774,2	MCF-7	breast:
21	chr1:59244169..59247698-chr1:60062396..60065400,3	K562	blood:
22	chr1:59244855..59247592-chr1:59314391..59317376,4	K562	blood:
23	chr1:59246648..59248452-chr1:59606800..59609133,2	K562	blood:
24	chr1:59246838..59249667-chr1:59504276..59507925,4	K562	blood:
25	chr1:59186058..59188120-chr1:59245328..59247867,2	K562	blood:
26	chr1:59245887..59249534-chr1:59455949..59458682,3	K562	blood:
27	chr1:59244053..59249750-chr1:59393075..59399809,12	K562	blood:
28	chr1:59246435..59249254-chr1:59487144..59489692,2	MCF-7	breast:
29	chr1:59244169..59247928-chr1:60060481..60064138,5	K562	blood:
30	chr1:59203533..59207535-chr1:59246122..59248670,4	K562	blood:
31	chr1:59247110..59249752-chr1:59387312..59390458,3	K562	blood:
32	chr1:59245573..59247756-chr1:59431368..59433217,2	K562	blood:
33	chr1:59246122..59248225-chr1:60208395..60212049,3	K562	blood:
34	chr1:59245718..59248161-chr1:59323277..59324885,2	MCF-7	breast:
35	chr1:59163564..59170812-chr1:59245390..59251956,13	K562	blood:
36	chr1:59245933..59248490-chr1:59559542..59562151,2	K562	blood:
37	chr1:59246671..59249127-chr1:59295559..59298699,3	K562	blood:
38	chr1:59245570..59248484-chr1:61782798..61784305,2	K562	blood:
39	chr1:59244876..59251429-chr1:59540803..59548111,10	K562	blood:
40	chr1:59245275..59248106-chr1:59562308..59564391,2	K562	blood:
41	chr1:59247175..59249150-chr1:59885978..59888095,2	K562	blood:
42	chr1:59245909..59247878-chr1:59481525..59484880,3	K562	blood:
43	chr1:59243458..59255133-chr1:59272031..59283720,29	K562	blood:
44	chr1:59245308..59247839-chr1:60213241..60216132,2	K562	blood:
45	chr1:59246945..59249154-chr1:59305966..59308006,2	K562	blood:
46	chr1:59229058..59237226-chr1:59244356..59250672,11	MCF-7	breast:
47	chr1:59245007..59249031-chr1:59898130..59900045,3	MCF-7	breast:
48	chr1:59162606..59168890-chr1:59243728..59252069,16	K562	blood:
49	chr1:59245349..59248652-chr1:59463306..59469148,5	K562	blood:
50	chr1:59010838..59012578-chr1:59247144..59249684,2	K562	blood:

No data

Variant related genes	Relation type
LINC01135	TF binding region
LINC01135	CpG island
ENSG00000186792	Chromatin interaction
ENSG00000235215	Chromatin interaction
ENSG00000222168	Chromatin interaction
ENSG00000172456	Chromatin interaction
ENSG00000162600	Chromatin interaction
ENSG00000243477	Chromatin interaction
ENSG00000162601	Chromatin interaction
ENSG00000228121	Chromatin interaction
ENSG00000173406	Chromatin interaction
ENSG00000231740	Chromatin interaction
ENSG00000272226	Chromatin interaction
ENSG00000232453	Chromatin interaction
ENSG00000264081	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798968	chr1:59246581-59251097	Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv1799803	chr1:59246581-59251097	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	esv12569	chr1:59247251-59250394	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	52 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	chr1:59245200-59251400	Active TSS	Aorta	Aorta
2	chr1:59245400-59247600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:59245600-59247600	Active TSS	Right Ventricle	heart
4	chr1:59245600-59247600	Active TSS	Stomach Smooth Muscle	stomach
5	chr1:59245600-59250600	Active TSS	HMEC	breast
6	chr1:59245600-59251000	Active TSS	HSMMtube	muscle
7	chr1:59245600-59251400	Active TSS	Psoas Muscle	Psoas
8	chr1:59245800-59248400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:59245800-59248400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
10	chr1:59245800-59248800	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
11	chr1:59246000-59247600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:59246000-59247800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:59246000-59248000	Active TSS	Right Atrium	heart
14	chr1:59246000-59248400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:59246000-59251200	Active TSS	Liver	Liver
16	chr1:59246200-59247600	Flanking Active TSS	Fetal Brain Male	brain
17	chr1:59246200-59248800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:59246200-59251600	Active TSS	Fetal Kidney	kidney
19	chr1:59246400-59248600	Transcr. at gene 5' and 3'	Osteobl	bone
20	chr1:59246400-59251400	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr1:59246600-59247800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:59246600-59247800	Active TSS	Lung	lung
23	chr1:59246600-59248200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:59246600-59248400	Transcr. at gene 5' and 3'	Placenta Amnion	Placenta Amnion
25	chr1:59246600-59248400	Active TSS	GM12878-XiMat	blood
26	chr1:59246600-59249000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
27	chr1:59246600-59251200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:59246600-59251200	Active TSS	A549	lung
29	chr1:59246600-59251400	Active TSS	Ovary	ovary
30	chr1:59246800-59247600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr1:59246800-59247600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:59246800-59247600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr1:59246800-59247600	Active TSS	Left Ventricle	heart
34	chr1:59246800-59247600	Active TSS	Pancreas	Pancrea
35	chr1:59246800-59248800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:59246800-59248800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
37	chr1:59246800-59249400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
38	chr1:59246800-59249600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:59246800-59251000	Active TSS	HSMM	muscle
40	chr1:59246800-59251200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:59246800-59251400	Active TSS	Colon Smooth Muscle	Colon
42	chr1:59246800-59252000	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr1:59247000-59247600	Active TSS	Rectal Smooth Muscle	rectum
44	chr1:59247000-59247600	Active TSS	HUVEC	blood vessel
45	chr1:59247000-59247600	Active TSS	K562	blood
46	chr1:59247000-59247800	Active TSS	Brain Cingulate Gyrus	brain
47	chr1:59247000-59247800	Flanking Active TSS	Hela-S3	cervix
48	chr1:59247000-59248200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:59247000-59248400	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr1:59247000-59248800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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