Variant report

Variant	nsv437950
Chromosome Location	chr4:172973580-172990972
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	chr4:172982512-172982741	HepG2	liver:	n/a	chr4:172982587-172982600 chr4:172982589-172982600 chr4:172982585-172982596 chr4:172982587-172982598
2	CEBPB	chr4:172976992-172977221	HepG2	liver:	n/a	chr4:172977101-172977112
3	CEBPB	chr4:172982433-172982704	Hela-S3	cervix:	n/a	chr4:172982587-172982600 chr4:172982589-172982600 chr4:172982585-172982596 chr4:172982587-172982598
4	CTCF	chr4:172976382-172976428	GM20000	blood:	n/a	n/a
5	CTCF	chr4:172974520-172974670	NHDF-neo	bronchial:	n/a	n/a
6	ELF1	chr4:172975545-172975718	K562	blood:	n/a	n/a
7	FOS	chr4:172982553-172982711	MCF10A-Er-Src	breast:	n/a	n/a
8	IRF1	chr4:172976270-172976580	K562	blood:	n/a	chr4:172976382-172976395 chr4:172976383-172976393 chr4:172976382-172976395 chr4:172976377-172976394 chr4:172976382-172976393 chr4:172976383-172976397
9	IRF3	chr4:172988275-172988330	GM12878	blood:	n/a	n/a
10	MEF2A	chr4:172976162-172976654	GM12878	blood:	n/a	chr4:172976431-172976442 chr4:172976428-172976449
11	MEF2A	chr4:172976249-172976651	GM12878	blood:	n/a	chr4:172976431-172976442 chr4:172976428-172976449
12	MEF2C	chr4:172976264-172976553	GM12878	blood:	n/a	chr4:172976430-172976445 chr4:172976431-172976442 chr4:172976428-172976449
13	MXI1	chr4:172979058-172979060	GM12878	blood:	n/a	n/a
14	NFIC	chr4:172976107-172976602	GM12878	blood:	n/a	n/a
15	NFIC	chr4:172976179-172976593	GM12878	blood:	n/a	n/a
16	POLR2A	chr4:172980403-172980522	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr4:172975142-172975350	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr4:172976168-172976593	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr4:172987724-172987790	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr4:172985011-172985114	MCF10A-Er-Src	breast:	n/a	n/a
21	RAD21	chr4:172973530-172973750	H1-hESC	embryonic stem cell:	n/a	n/a
22	RFX5	chr4:172985003-172985135	K562	blood:	n/a	n/a
23	RUNX3	chr4:172976253-172976573	GM12878	blood:	n/a	n/a
24	RUNX3	chr4:172976132-172976657	GM12878	blood:	n/a	n/a
25	ZNF384	chr4:172976207-172976234	GM12878	blood:	n/a	n/a
26	ZNF384	chr4:172988535-172988541	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:166764007..166764674-chr4:172977172..172977832,2	MCF-7	breast:
2	chr4:172979164..172981714-chr4:172998153..173000134,2	K562	blood:
3	chr4:172988137..172989930-chr4:172993221..172995055,2	K562	blood:
4	chr4:172977943..172980712-chr4:172981081..172983923,2	K562	blood:
5	chr4:172978945..172981586-chr4:173074547..173076699,2	K562	blood:
6	chr4:172977943..172980712-chr4:172981081..172983923,2	K562	blood:

Variant related genes	Relation type
GALNTL6	TF binding region
ENSG00000123607	chromatin interactions

Extended variants
information (count: 591 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:591 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1505495	chr4:172973580-172973581	Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531684270	chr4:172973683-172973684	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76226489	chr4:172973687-172973688	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184135856	chr4:172973689-172973690	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533951013	chr4:172973709-172973710	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188867213	chr4:172973739-172973740	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567617635	chr4:172973745-172973746	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548782013	chr4:172973750-172973751	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536655838	chr4:172973751-172973752	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556239992	chr4:172973762-172973763	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576028067	chr4:172973789-172973790	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538989126	chr4:172973797-172973798	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558810662	chr4:172973807-172973808	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149364433	chr4:172973846-172973847	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559420408	chr4:172973895-172973896	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541238526	chr4:172973979-172973980	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113533939	chr4:172973981-172973982	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2174492	chr4:172973986-172973987	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs114037289	chr4:172974008-172974009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs180788255	chr4:172974045-172974046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531316650	chr4:172974093-172974094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551726740	chr4:172974095-172974096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183922313	chr4:172974121-172974122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188347673	chr4:172974185-172974186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs71607866	chr4:172974219-172974220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533056214	chr4:172974220-172974221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547231926	chr4:172974245-172974246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554391405	chr4:172974251-172974252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75036616	chr4:172974273-172974274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550242213	chr4:172974277-172974278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72541847	chr4:172974332-172974333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1394855	chr4:172974333-172974334	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs538627805	chr4:172974421-172974422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201744095	chr4:172974427-172974428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs66918444	chr4:172974435-172974436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12643122	chr4:172974436-172974437	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs531226816	chr4:172974445-172974446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535230827	chr4:172974485-172974486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551296681	chr4:172974575-172974576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567740986	chr4:172974589-172974590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200396688	chr4:172974615-172974616	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs187200157	chr4:172974627-172974628	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs191677944	chr4:172974689-172974690	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs562545252	chr4:172974720-172974721	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs572706090	chr4:172974732-172974733	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs576126123	chr4:172974741-172974742	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs372672752	chr4:172974757-172974758	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs377317934	chr4:172974772-172974773	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs544984692	chr4:172974980-172974981	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs1027758	chr4:172975123-172975124	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:73)

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
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
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172972200-172973800	Enhancers	K562	blood
2	chr4:172972600-172974000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:172973400-172973800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:172973800-172974600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:172974000-172974600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:172974600-172975000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:172974600-172975600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:172975000-172975600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:172975600-172977000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:172975600-172977000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:172976000-172976800	Enhancers	GM12878-XiMat	blood
12	chr4:172976400-172977200	Enhancers	Fetal Heart	heart
13	chr4:172977000-172977200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:172977000-172980200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:172980200-172980400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:172981800-172983200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:172983200-172983600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:172983600-172984000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:172984000-172984400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr4:172984000-172985400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:172984000-172985800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr4:172984200-172984400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr4:172984200-172985200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr4:172984200-172985400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr4:172984400-172985400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr4:172984800-172985400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr4:172984800-172985600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr4:172985400-172985800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr4:172985400-172989200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr4:172985800-172986400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:172985800-172989000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr4:172989000-172990400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr4:172989200-172989600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr4:172989400-172990400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:172989600-172992600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr4:172990400-172992400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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