Variant report

Variant	esv32790
Chromosome Location	chr4:130053635-130058173
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	CTCF	chr4:130056717-130056745	GM10266	blood:	n/a	n/a
2	CTCF	chr4:130054701-130054744	GM12892	blood:	n/a	n/a
3	CTCF	chr4:130053780-130053930	GM12874	blood:	n/a	chr4:130053849-130053862
4	CTCF	chr4:130054709-130054777	MCF-7	breast:	n/a	n/a
5	CTCF	chr4:130056795-130056875	GM10266	blood:	n/a	n/a
6	CTCF	chr4:130054700-130054767	MCF-7	breast:	n/a	chr4:130054700-130054709
7	CTCF	chr4:130057440-130057590	GM12874	blood:	n/a	n/a
8	POLR2A	chr4:130056711-130056800	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:130049431..130052409-chr4:130054376..130057821,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf33-3	chr4:130054261-130055253	NONHSAT098291

Variant related genes	Relation type
ENSG00000251345	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568663358	chr4:130053676-130053677	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs146045975	chr4:130053679-130053680	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs17789626	chr4:130053693-130053694	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs192829581	chr4:130053695-130053696	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs139226302	chr4:130053710-130053711	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs72687104	chr4:130053711-130053712	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs116614910	chr4:130053737-130053738	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs567762194	chr4:130053750-130053751	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs537679704	chr4:130053775-130053776	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs184537956	chr4:130053783-130053784	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs553343588	chr4:130053805-130053806	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs35162842	chr4:130053918-130053919	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs189239454	chr4:130053920-130053921	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs72927976	chr4:130053943-130053944	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs575468252	chr4:130053986-130053987	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs542829436	chr4:130053996-130053997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs561296253	chr4:130054016-130054017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs528192064	chr4:130054038-130054039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs553815174	chr4:130054070-130054071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs181550842	chr4:130054087-130054088	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs113521108	chr4:130054096-130054097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs564933706	chr4:130054206-130054207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147093926	chr4:130054208-130054209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs57662562	chr4:130054212-130054213	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs569155639	chr4:130054233-130054234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185035674	chr4:130054249-130054250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115320656	chr4:130054273-130054274	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs566509959	chr4:130054274-130054275	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs59248688	chr4:130054276-130054277	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542187694	chr4:130054291-130054292	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs553191000	chr4:130054311-130054312	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs372988361	chr4:130054312-130054313	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs112367156	chr4:130054318-130054319	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs17185620	chr4:130054330-130054331	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs116301855	chr4:130054339-130054340	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs112537057	chr4:130054346-130054347	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs575554224	chr4:130054355-130054356	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs148156991	chr4:130054407-130054408	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs142012362	chr4:130054409-130054410	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs575674536	chr4:130054412-130054413	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs573346943	chr4:130054413-130054414	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs540369065	chr4:130054418-130054419	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs564805169	chr4:130054424-130054425	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs72927980	chr4:130054447-130054448	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs337275	chr4:130054469-130054470	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs562437139	chr4:130054489-130054490	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs150496714	chr4:130054490-130054491	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs535973883	chr4:130054497-130054498	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs560344542	chr4:130054499-130054500	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs190534098	chr4:130054504-130054505	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130052400-130053800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:130053600-130054200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:130054200-130055200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:130054800-130055000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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