Variant report

Variant	nsv521422
Chromosome Location	chr4:171808256-171824549
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	CEBPB	chr4:171816014-171816270	A549	lung:	n/a	n/a
2	CEBPB	chr4:171816037-171816298	K562	blood:	n/a	n/a
3	CEBPB	chr4:171815988-171816327	IMR90	lung:	n/a	n/a
4	CEBPB	chr4:171816065-171816272	H1-hESC	embryonic stem cell:	n/a	n/a
5	FOS	chr4:171810105-171810154	MCF10A-Er-Src	breast:	n/a	n/a
6	FOXA1	chr4:171808574-171808906	T-47D	breast:	n/a	chr4:171808730-171808745
7	FOXA1	chr4:171808559-171808922	T-47D	breast:	n/a	chr4:171808730-171808745
8	GATA3	chr4:171820711-171820819	SH-SY5Y	brain:	n/a	n/a
9	POLR2A	chr4:171816199-171816591	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr4:171815474-171815570	ProgFib	skin:	n/a	n/a
11	POLR2A	chr4:171817334-171817471	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr4:171818445-171818645	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr4:171821435-171821508	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr4:171812284-171812420	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr4:171819236-171819332	MCF10A-Er-Src	breast:	n/a	n/a
16	ZNF143	chr4:171814536-171814658	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
RNU6ATAC13P	TF binding region

Extended variants
information (count: 271 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:271 , 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	rs7695819	chr4:171808256-171808257	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369746626	chr4:171808337-171808338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577325376	chr4:171808359-171808360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150122822	chr4:171808370-171808371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538759566	chr4:171808383-171808384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546367520	chr4:171808439-171808440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559741029	chr4:171808471-171808472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35040173	chr4:171808486-171808487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573552616	chr4:171808489-171808490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537377201	chr4:171808541-171808542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552109345	chr4:171808563-171808564	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs560831925	chr4:171808565-171808566	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs565535707	chr4:171808579-171808580	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs529719328	chr4:171808594-171808595	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs549571903	chr4:171808621-171808622	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs563390245	chr4:171808654-171808655	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs531223454	chr4:171808676-171808677	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs532157835	chr4:171808677-171808678	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs552328055	chr4:171808682-171808683	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs557283761	chr4:171808705-171808706	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs577155755	chr4:171808718-171808719	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs151299078	chr4:171808773-171808774	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs182202206	chr4:171808844-171808845	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs139320223	chr4:171808846-171808847	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs79672375	chr4:171808854-171808855	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs557116698	chr4:171808917-171808918	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs375935774	chr4:171808942-171808943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200551673	chr4:171808951-171808952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556983798	chr4:171808952-171808953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs752495	chr4:171808969-171808970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539575123	chr4:171809014-171809015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553513221	chr4:171809035-171809036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186762091	chr4:171809049-171809050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573490709	chr4:171809079-171809080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs5864051	chr4:171809115-171809116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3048510	chr4:171809116-171809117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs397836732	chr4:171809118-171809119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190831376	chr4:171809187-171809188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7669141	chr4:171809238-171809239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs546653937	chr4:171809291-171809292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77699702	chr4:171809307-171809308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534464862	chr4:171809317-171809318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543404668	chr4:171809337-171809338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs33944832	chr4:171809341-171809342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs386402258	chr4:171809343-171809344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371491204	chr4:171809348-171809349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370410975	chr4:171809349-171809350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76677344	chr4:171809350-171809351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183948513	chr4:171809402-171809403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532219278	chr4:171809444-171809445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Developmental delay	22127048	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:171793600-171809200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:171808000-171808800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr4:171808200-171808600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:171808200-171808800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:171808200-171808800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:171808400-171809000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:171808600-171808800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr4:171809000-171813600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:171813600-171814800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr4:171814400-171814600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:171814400-171814800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:171823800-171824200	Enhancers	Pancreas	Pancrea

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