Variant report

Variant	nsv236860
Chromosome Location	chr3:23442134-23445637
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	EP300	chr3:23444005-23444036	GM12878	blood:	n/a	n/a
2	EP300	chr3:23442232-23442598	T-47D	breast:	n/a	n/a
3	FOSL2	chr3:23445592-23446202	A549	lung:	n/a	chr3:23446092-23446101 chr3:23445895-23445905
4	FOXA1	chr3:23442304-23442676	T-47D	breast:	n/a	n/a
5	GATA3	chr3:23442225-23442713	T-47D	breast:	n/a	n/a
6	GATA3	chr3:23442226-23442683	T-47D	breast:	n/a	n/a
7	GATA3	chr3:23445501-23446392	A549	lung:	n/a	chr3:23445927-23445948 chr3:23445934-23445943 chr3:23445930-23445946 chr3:23445930-23445946
8	MAFK	chr3:23445537-23446366	Hela-S3	cervix:	n/a	chr3:23446172-23446183 chr3:23446171-23446185 chr3:23446172-23446183 chr3:23446168-23446184 chr3:23446173-23446184 chr3:23446173-23446184
9	POLR2A	chr3:23445555-23445572	MCF10A-Er-Src	breast:	n/a	n/a
10	RUNX3	chr3:23444104-23444572	GM12878	blood:	n/a	n/a
11	RUNX3	chr3:23444114-23444542	GM12878	blood:	n/a	n/a
12	SPI1	chr3:23444397-23445027	GM12878	blood:	n/a	n/a
13	SPI1	chr3:23444623-23444900	GM12891	blood:	n/a	n/a
14	SPI1	chr3:23444603-23444965	GM12891	blood:	n/a	n/a
15	SPI1	chr3:23444665-23444943	GM12878	blood:	n/a	n/a
16	ZBTB33	chr3:23443195-23443419	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:23442881..23445228-chr3:23445484..23447259,2	K562	blood:
2	chr3:23442881..23445228-chr3:23445484..23447259,2	K562	blood:
3	chr3:23436579..23438931-chr3:23441202..23443899,2	K562	blood:
4	chr3:23442881..23445378-chr3:23445759..23448586,2	K562	blood:
5	chr3:23443862..23447627-chr3:23449749..23452969,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221506	TF binding region

Extended variants
information (count: 136 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574275255	chr3:23442155-23442156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142175868	chr3:23442223-23442224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554361160	chr3:23442353-23442354	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs534823776	chr3:23442386-23442387	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs533207549	chr3:23442398-23442399	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs553042428	chr3:23442441-23442442	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs150242035	chr3:23442449-23442450	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs545095583	chr3:23442451-23442452	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs140290909	chr3:23442473-23442474	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs114302868	chr3:23442475-23442476	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs7624969	chr3:23442497-23442498	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs533520831	chr3:23442506-23442507	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs75709953	chr3:23442537-23442538	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs531516239	chr3:23442605-23442606	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs9845340	chr3:23442653-23442654	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs571257922	chr3:23442678-23442679	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs538675212	chr3:23442679-23442680	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs778509	chr3:23442708-23442709	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs549907323	chr3:23442709-23442710	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs576691692	chr3:23442710-23442711	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs189661207	chr3:23442747-23442748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192691728	chr3:23442761-23442762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534376897	chr3:23442762-23442763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545713280	chr3:23442763-23442764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185035549	chr3:23442775-23442776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574237193	chr3:23442815-23442816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538161870	chr3:23442824-23442825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556862898	chr3:23442841-23442842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531487900	chr3:23442864-23442865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577605773	chr3:23442899-23442900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114911545	chr3:23442904-23442905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73138436	chr3:23443007-23443008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs55797660	chr3:23443054-23443055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542764917	chr3:23443055-23443056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533751438	chr3:23443057-23443058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78606219	chr3:23443068-23443069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150386363	chr3:23443071-23443072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549795074	chr3:23443074-23443075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188081192	chr3:23443135-23443136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532120724	chr3:23443159-23443160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547435445	chr3:23443163-23443164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565748403	chr3:23443183-23443184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180934670	chr3:23443210-23443211	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs549511303	chr3:23443225-23443226	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs567759054	chr3:23443236-23443237	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs538474159	chr3:23443253-23443254	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs62253413	chr3:23443265-23443266	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs556425007	chr3:23443281-23443282	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs577947555	chr3:23443294-23443295	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs186133374	chr3:23443301-23443302	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23427000-23445000	Weak transcription	Right Ventricle	heart
2	chr3:23429800-23445400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:23431400-23447800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:23432200-23452600	Weak transcription	Aorta	Aorta
5	chr3:23433800-23459600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr3:23434400-23444000	Weak transcription	Primary B cells from cord blood	blood
7	chr3:23435000-23448200	Weak transcription	Psoas Muscle	Psoas
8	chr3:23438600-23448200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr3:23441000-23444200	Weak transcription	Right Atrium	heart
10	chr3:23442000-23442400	Enhancers	Fetal Heart	heart
11	chr3:23442200-23446800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:23442400-23448200	Weak transcription	Fetal Heart	heart
13	chr3:23442600-23443000	Enhancers	HSMMtube	muscle
14	chr3:23443000-23444400	Weak transcription	HSMMtube	muscle
15	chr3:23443600-23444600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr3:23443800-23444600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr3:23443800-23444600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr3:23444000-23444800	Enhancers	Dnd41	blood
19	chr3:23444000-23445000	Enhancers	Primary T cells from cord blood	blood
20	chr3:23444000-23447000	Enhancers	Primary B cells from cord blood	blood
21	chr3:23444200-23444400	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr3:23444200-23444600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr3:23444200-23444600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr3:23444200-23444600	Enhancers	Fetal Thymus	thymus
25	chr3:23444200-23444800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr3:23444200-23445600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr3:23444200-23446400	Enhancers	GM12878-XiMat	blood
28	chr3:23444200-23447400	Enhancers	Primary B cells from peripheral blood	blood
29	chr3:23444400-23444600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:23444400-23445000	Enhancers	HSMMtube	muscle
31	chr3:23444400-23445200	Enhancers	Primary T cells fromperipheralblood	blood
32	chr3:23444400-23445200	Enhancers	Left Ventricle	heart
33	chr3:23444400-23445200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr3:23444400-23445400	Weak transcription	Brain Substantia Nigra	brain
35	chr3:23444600-23459400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:23444600-23467000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr3:23445000-23445600	Enhancers	Right Ventricle	heart
38	chr3:23445000-23463800	Weak transcription	HSMMtube	muscle
39	chr3:23445200-23445400	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr3:23445200-23449400	Weak transcription	Left Ventricle	heart
41	chr3:23445400-23446000	Enhancers	Brain Substantia Nigra	brain
42	chr3:23445400-23446000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr3:23445400-23446400	Enhancers	HUVEC	blood vessel
44	chr3:23445400-23447000	Enhancers	Hela-S3	cervix
45	chr3:23445600-23446400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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