Variant report

Variant	esv3464537
Chromosome Location	chr4:130064302-130070200
allele	n/a
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	ARID3A	chr4:130066502-130066850	K562	blood:	n/a	n/a
2	ARID3A	chr4:130067863-130068063	K562	blood:	n/a	n/a
3	BHLHE40	chr4:130066166-130066205	K562	blood:	n/a	n/a
4	CEBPB	chr4:130067703-130067942	K562	blood:	n/a	chr4:130067817-130067830
5	CEBPB	chr4:130066150-130066401	K562	blood:	n/a	n/a
6	CHD2	chr4:130066224-130066250	K562	blood:	n/a	n/a
7	CTCF	chr4:130067940-130068090	HepG2	liver:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
8	CTCF	chr4:130068200-130068350	GM12864	blood:	n/a	n/a
9	CTCF	chr4:130067940-130068090	BE2_C	brain:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
10	CTCF	chr4:130067917-130068084	K562	blood:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
11	CTCF	chr4:130067900-130068050	HBMEC	blood vessel:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
12	CTCF	chr4:130067900-130068050	HRE	kidney:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
13	CTCF	chr4:130067900-130068050	GM12873	blood:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
14	CTCF	chr4:130067960-130068110	RPTEC	kidney:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
15	CTCF	chr4:130067987-130068049	HUVEC	blood vessel:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
16	CTCF	chr4:130067891-130068063	HepG2	liver:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
17	CTCF	chr4:130067920-130068070	HEK293	kidney:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
18	CTCF	chr4:130067860-130068010	HCT-116	colon:	n/a	n/a
19	CTCF	chr4:130067954-130068034	GM13977	blood:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
20	CTCF	chr4:130067920-130068070	GM06990	blood:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
21	CTCF	chr4:130067923-130068067	HepG2	liver:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
22	CTCF	chr4:130067920-130068070	GM12875	blood:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
23	CTCF	chr4:130067981-130068022	GM12878	blood:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
24	CTCF	chr4:130067880-130068030	Caco-2	colon:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
25	CTCF	chr4:130067940-130068090	HRE	kidney:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
26	CTCF	chr4:130067800-130067950	BE2_C	brain:	n/a	n/a
27	CTCF	chr4:130067860-130068010	GM06990	blood:	n/a	n/a
28	CTCF	chr4:130067940-130068090	HMF	breast:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
29	CTCF	chr4:130067860-130068010	HCFaa	heart:	n/a	n/a
30	CTCF	chr4:130067818-130068153	K562	blood:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
31	CTCF	chr4:130067100-130067250	K562	blood:	n/a	n/a
32	CTCF	chr4:130067980-130068130	RPTEC	kidney:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
33	CTCF	chr4:130067080-130067230	HepG2	liver:	n/a	n/a
34	CTCF	chr4:130067900-130068050	SK-N-SH_RA	brain:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
35	CTCF	chr4:130068020-130068170	Caco-2	colon:	n/a	n/a
36	CTCF	chr4:130067137-130067193	K562	blood:	n/a	n/a
37	CTCF	chr4:130067880-130068030	SK-N-SH_RA	brain:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
38	CTCF	chr4:130067880-130068030	K562	blood:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
39	CTCF	chr4:130067060-130067210	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCFL	chr4:130067927-130068047	K562	blood:	n/a	chr4:130068004-130068013
41	CUX1	chr4:130066828-130066831	K562	blood:	n/a	n/a
42	CUX1	chr4:130065874-130066398	K562	blood:	n/a	n/a
43	CUX1	chr4:130069885-130069888	GM12878	blood:	n/a	n/a
44	E2F6	chr4:130066090-130066219	K562	blood:	n/a	n/a
45	E2F6	chr4:130067051-130067235	K562	blood:	n/a	n/a
46	EP300	chr4:130065926-130066114	K562	blood:	n/a	n/a
47	EP300	chr4:130067497-130067695	K562	blood:	n/a	n/a
48	EP300	chr4:130067094-130067225	K562	blood:	n/a	n/a
49	FOS	chr4:130066612-130066874	HUVEC	blood vessel:	n/a	chr4:130066717-130066728
50	GATA2	chr4:130065758-130066085	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:130061469..130063287-chr4:130063449..130064968,2	K562	blood:

Variant related genes	Relation type
ZSWIM5P3	TF binding region

Extended variants
information (count: 96 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183433380	chr4:130064389-130064390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187913095	chr4:130064416-130064417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539968486	chr4:130064433-130064434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551561170	chr4:130064440-130064441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61168864	chr4:130064466-130064467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs368728929	chr4:130064482-130064483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574796928	chr4:130064635-130064636	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs537066494	chr4:130064668-130064669	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs555702210	chr4:130064754-130064755	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs573995516	chr4:130064800-130064801	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs576096728	chr4:130064801-130064802	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs567560323	chr4:130064809-130064810	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs397730791	chr4:130064810-130064811	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs577796632	chr4:130064811-130064812	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs115443443	chr4:130064812-130064813	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs534968414	chr4:130064817-130064818	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs148749762	chr4:130064831-130064832	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs1709422	chr4:130064878-130064879	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs542261799	chr4:130064933-130064934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560828052	chr4:130064978-130064979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73848938	chr4:130065087-130065088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193181687	chr4:130065088-130065089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565101824	chr4:130065110-130065111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563676023	chr4:130065152-130065153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146851065	chr4:130065208-130065209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550713085	chr4:130065227-130065228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570073195	chr4:130065359-130065360	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs183317757	chr4:130065383-130065384	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs552547321	chr4:130065396-130065397	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs371479451	chr4:130065404-130065405	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs368573608	chr4:130065413-130065414	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs548974667	chr4:130065436-130065437	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs76959133	chr4:130065515-130065516	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs535014046	chr4:130065527-130065528	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs553237476	chr4:130065540-130065541	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs140693684	chr4:130065576-130065577	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs536631	chr4:130065648-130065649	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187816900	chr4:130065653-130065654	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs115475752	chr4:130065685-130065686	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs572335677	chr4:130065796-130065797	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs554653749	chr4:130065928-130065929	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs572852487	chr4:130065954-130065955	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs192323789	chr4:130065976-130065977	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs34758565	chr4:130066043-130066044	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs12505162	chr4:130066104-130066105	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs374907482	chr4:130066126-130066127	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs369340076	chr4:130066127-130066128	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs72928002	chr4:130066204-130066205	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs183624352	chr4:130066230-130066231	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs562661619	chr4:130066237-130066238	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130060200-130065800	Weak transcription	K562	blood
2	chr4:130060400-130065800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:130060400-130066000	Weak transcription	Pancreas	Pancrea
4	chr4:130063200-130065800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:130065800-130066000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:130065800-130066200	Active TSS	Adipose Nuclei	Adipose
7	chr4:130065800-130066200	Bivalent Enhancer	Left Ventricle	heart
8	chr4:130065800-130066200	Enhancers	HUVEC	blood vessel
9	chr4:130065800-130066200	Flanking Active TSS	K562	blood
10	chr4:130065800-130066400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:130065800-130066800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr4:130066000-130066400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:130066200-130067200	Active TSS	K562	blood
14	chr4:130066400-130066600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:130066400-130067000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr4:130066600-130066800	Flanking Bivalent TSS/Enh	HepG2	liver
17	chr4:130066600-130067000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr4:130067200-130068000	Enhancers	K562	blood

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