Variant report

Variant	esv1005045
Chromosome Location	chr3:133501591-133510973
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:488)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:133509466-133509676	K562	blood:	n/a	n/a
2	CEBPB	chr3:133509470-133509718	HepG2	liver:	n/a	n/a
3	CEBPB	chr3:133509449-133509709	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr3:133502593-133502998	K562	blood:	n/a	chr3:133502820-133502829 chr3:133502820-133502833
5	CTCF	chr3:133502710-133502799	K562	blood:	n/a	n/a
6	CTCF	chr3:133502610-133502848	H1-hESC	embryonic stem cell:	n/a	chr3:133502820-133502829 chr3:133502820-133502833
7	CTCF	chr3:133506077-133506110	Lung_OC	lung:	n/a	n/a
8	CTCF	chr3:133502660-133502810	K562	blood:	n/a	n/a
9	CTCF	chr3:133502720-133502906	K562	blood:	n/a	chr3:133502820-133502829 chr3:133502820-133502833
10	CTCF	chr3:133502728-133502789	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr3:133502594-133502873	K562	blood:	n/a	chr3:133502820-133502829 chr3:133502820-133502833
12	CTCF	chr3:133502663-133502855	K562	blood:	n/a	chr3:133502820-133502829 chr3:133502820-133502833
13	CTCFL	chr3:133502707-133502807	K562	blood:	n/a	n/a
14	E2F6	chr3:133502677-133502847	K562	blood:	n/a	chr3:133502780-133502792
15	FOSL2	chr3:133501617-133501925	HepG2	liver:	n/a	n/a
16	GATA3	chr3:133506721-133506887	SH-SY5Y	brain:	n/a	n/a
17	KAP1	chr3:133510912-133511496	U2OS	brain:	n/a	n/a
18	KAP1	chr3:133510899-133511529	HEK293	kidney:	n/a	n/a
19	KAP1	chr3:133510934-133511417	K562	blood:	n/a	n/a
20	MAZ	chr3:133502717-133502789	K562	blood:	n/a	n/a
21	POLR2A	chr3:133501598-133501825	HepG2	liver:	n/a	n/a
22	POLR2A	chr3:133500242-133502055	HepG2	liver:	n/a	n/a
23	POLR2A	chr3:133500928-133501977	HepG2	liver:	n/a	n/a
24	POLR2A	chr3:133502849-133502908	MCF-7	breast:	n/a	n/a
25	POLR2A	chr3:133501736-133501869	MCF-7	breast:	n/a	n/a
26	POLR2A	chr3:133502962-133502964	MCF-7	breast:	n/a	n/a
27	POLR2A	chr3:133502976-133502987	MCF-7	breast:	n/a	n/a
28	POLR2A	chr3:133502915-133502920	MCF-7	breast:	n/a	n/a
29	POLR2A	chr3:133503552-133503570	HepG2	liver:	n/a	n/a
30	RAD21	chr3:133502653-133502924	H1-hESC	embryonic stem cell:	n/a	chr3:133502819-133502833
31	RAD21	chr3:133502661-133502768	K562	blood:	n/a	n/a
32	RAD21	chr3:133502560-133502942	H1-hESC	embryonic stem cell:	n/a	chr3:133502819-133502833 chr3:133502615-133502628
33	RAD21	chr3:133502640-133502846	K562	blood:	n/a	chr3:133502819-133502833
34	SETDB1	chr3:133510647-133511708	U2OS	brain:	n/a	n/a
35	STAT3	chr3:133506578-133506860	MCF10A-Er-Src	breast:	n/a	n/a
36	ZNF143	chr3:133502662-133502819	H1-hESC	embryonic stem cell:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:133502702-133502752	IMR90	lung:	fetal
2	chr3:133502952-133503002	GM12878	blood:	n/a
3	chr3:133502702-133502752	NB4	blood:	n/a
4	chr3:133502702-133502752	PrEC	prostate:	n/a
5	chr3:133502540-133502590	PrEC	prostate:	n/a
6	chr3:133502564-133502614	AG04449	skin:	fetal
7	chr3:133502540-133502590	SK-N-MC	brain:	n/a
8	chr3:133502917-133502967	HRCEpiC	kidney:	n/a
9	chr3:133502564-133502614	MCF-7	breast:	n/a
10	chr3:133502540-133502590	ECC-1	luminal epithelium:	n/a
11	chr3:133502917-133502967	HCT-116	colon:	n/a
12	chr3:133502540-133502590	HEEpiC	esophagus:	n/a
13	chr3:133502952-133503002	HRCEpiC	kidney:	n/a
14	chr3:133502702-133502752	GM12891	blood:	n/a
15	chr3:133502540-133502590	NT2-D1	testis:	n/a
16	chr3:133502564-133502614	HNPCEpiC	eye:	n/a
17	chr3:133502917-133502967	HEK293	kidney:	embryo
18	chr3:133502702-133502752	AG04449	skin:	fetal
19	chr3:133502540-133502590	SK-N-SH_RA	brain:	n/a
20	chr3:133503437-133503487	HL-60	blood:	n/a
21	chr3:133503437-133503487	AG04450	lung:	fetal
22	chr3:133506162-133506212	AG10803	skin:	n/a
23	chr3:133502917-133502967	NHBE	bronchial:	n/a
24	chr3:133502702-133502752	HCF	heart:	n/a
25	chr3:133506162-133506212	A549	lung:	n/a
26	chr3:133502952-133503002	PrEC	prostate:	n/a
27	chr3:133506162-133506212	SK-N-SH_RA	brain:	n/a
28	chr3:133506162-133506212	SAEC	small airway:	n/a
29	chr3:133502909-133502959	BE2_C	brain:	n/a
30	chr3:133506162-133506212	ECC-1	luminal epithelium:	n/a
31	chr3:133503437-133503487	BE2_C	brain:	n/a
32	chr3:133502702-133502752	AG04450	lung:	fetal
33	chr3:133502702-133502752	RPTEC	kidney:	n/a
34	chr3:133502917-133502967	CMK	blood:	n/a
35	chr3:133502564-133502614	HCM	heart:	n/a
36	chr3:133506162-133506212	LNCaP	prostate:	n/a
37	chr3:133502564-133502614	NHBE	bronchial:	n/a
38	chr3:133502909-133502959	AoSMC	blood vessel:	n/a
39	chr3:133502917-133502967	A549	lung:	n/a
40	chr3:133502952-133503002	SK-N-SH_RA	brain:	n/a
41	chr3:133502917-133502967	HCPEpiC	choroid plexus:	n/a
42	chr3:133502564-133502614	GM12892	blood:	n/a
43	chr3:133503437-133503487	HNPCEpiC	eye:	n/a
44	chr3:133502540-133502590	HCPEpiC	choroid plexus:	n/a
45	chr3:133502564-133502614	Caco-2	colon:	n/a
46	chr3:133506162-133506212	HUVEC	blood vessel:	n/a
47	chr3:133502540-133502590	NB4	blood:	n/a
48	chr3:133506162-133506212	BJ	skin:	n/a
49	chr3:133502952-133503002	HAEpiC	amniotic membrane:	n/a
50	chr3:133502540-133502590	HUVEC	blood vessel:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:133494152..133496090-chr3:133504815..133507744,2	K562	blood:
2	chr3:133487018..133489048-chr3:133506905..133509530,2	K562	blood:
3	chr3:133507858..133509581-chr3:133515622..133517840,2	K562	blood:

No data

Variant related genes	Relation type
SRPRB	TF binding region
SRPRB	CpG island

Extended variants
information (count: 300 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142708442	chr3:133501603-133501604	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs201079360	chr3:133501637-133501638	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs546591789	chr3:133501652-133501653	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs58620587	chr3:133501653-133501654	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs563589040	chr3:133501654-133501655	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs13098700	chr3:133501662-133501663	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs57728152	chr3:133501663-133501664	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs573023739	chr3:133501664-133501665	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs13098844	chr3:133501666-133501667	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs13098708	chr3:133501672-133501673	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs376463605	chr3:133501716-133501717	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs6781444	chr3:133501718-133501719	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575422718	chr3:133501720-133501721	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs544625302	chr3:133501737-133501738	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs564779500	chr3:133501769-133501770	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs185798405	chr3:133501798-133501799	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs139095511	chr3:133501849-133501850	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs149893605	chr3:133501856-133501857	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs144941127	chr3:133501870-133501871	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs548299650	chr3:133501925-133501926	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs558225880	chr3:133501952-133501953	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs190961362	chr3:133501970-133501971	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs530712403	chr3:133502024-133502025	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs550637365	chr3:133502041-133502042	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs541163836	chr3:133502043-133502044	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs373070431	chr3:133502071-133502072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139729312	chr3:133502073-133502074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539326203	chr3:133502089-133502090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368973991	chr3:133502102-133502103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566489892	chr3:133502151-133502152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144375254	chr3:133502190-133502191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555436178	chr3:133502205-133502206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377524477	chr3:133502278-133502279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146645802	chr3:133502371-133502372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570929456	chr3:133502383-133502384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558032341	chr3:133502435-133502436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554673909	chr3:133502451-133502452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373567734	chr3:133502471-133502472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370016920	chr3:133502474-133502475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578210674	chr3:133502662-133502663	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs114796206	chr3:133502664-133502665	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs559397464	chr3:133502685-133502686	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs528093221	chr3:133502758-133502759	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs541976634	chr3:133502768-133502769	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs561754045	chr3:133502784-133502785	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs371141956	chr3:133502828-133502829	Enhancers ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs550774166	chr3:133502837-133502838	Enhancers ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs564079267	chr3:133502878-133502879	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533267347	chr3:133502881-133502882	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546480054	chr3:133502909-133502910	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Hailey-hailey disease	17597066	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133497400-133502600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:133498400-133503400	Weak transcription	Adipose Nuclei	Adipose
3	chr3:133498600-133505800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:133498600-133510400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:133498800-133508000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:133499000-133505200	Weak transcription	Brain Anterior Caudate	brain
7	chr3:133499000-133510800	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:133499200-133503400	Weak transcription	Brain Substantia Nigra	brain
9	chr3:133502600-133502800	Bivalent Enhancer	Placenta	Placenta
10	chr3:133502600-133503000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:133502600-133503000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:133503200-133503600	Enhancers	Gastric	stomach
13	chr3:133503400-133503600	Enhancers	Adipose Nuclei	Adipose
14	chr3:133503400-133503600	Enhancers	Brain Substantia Nigra	brain
15	chr3:133505200-133505400	Enhancers	Brain Anterior Caudate	brain
16	chr3:133505800-133506000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr3:133507400-133508200	Enhancers	Spleen	Spleen
18	chr3:133507600-133508200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:133510400-133510600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain

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