Variant report

Variant	esv2763744
Chromosome Location	chr3:178883172-178888165
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	chr3:178886325-178886504	K562	blood:	n/a	n/a
2	CEBPB	chr3:178887903-178887906	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr3:178887991-178888046	GM13976	blood:	n/a	n/a
4	CUX1	chr3:178888014-178888102	GM12878	blood:	n/a	n/a
5	FOS	chr3:178886517-178887045	HUVEC	blood vessel:	n/a	chr3:178886866-178886877
6	FOS	chr3:178886720-178887053	MCF10A-Er-Src	breast:	n/a	chr3:178886866-178886877
7	GATA3	chr3:178884679-178884730	SH-SY5Y	brain:	n/a	n/a
8	IRF1	chr3:178883398-178883517	K562	blood:	n/a	n/a
9	JUN	chr3:178887116-178887208	HepG2	liver:	n/a	chr3:178887142-178887155
10	POLR2A	chr3:178886777-178886866	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr3:178884956-178885112	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr3:178886585-178886982	MCF10A-Er-Src	breast:	n/a	n/a
13	SETDB1	chr3:178885629-178886396	U2OS	brain:	n/a	n/a
14	SPI1	chr3:178885840-178885997	K562	blood:	n/a	n/a
15	SPI1	chr3:178884620-178884929	GM12891	blood:	n/a	chr3:178884797-178884806
16	STAT3	chr3:178886303-178886397	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr3:178883751-178883845	MCF10A-Er-Src	breast:	n/a	n/a
18	ZNF263	chr3:178883065-178883890	HEK293-T-REx	kidney:	n/a	chr3:178883365-178883386

No.	Distal block	Cell Line	Cell type
1	chr3:178883567..178885115-chr3:178885473..178887362,2	K562	blood:
2	chr3:178882042..178883552-chr3:178887353..178888877,2	K562	blood:
3	chr3:178882042..178883552-chr3:178887353..178888877,2	K562	blood:
4	chr3:178884097..178886726-chr3:178940111..178942496,2	K562	blood:
5	chr3:178865422..178866948-chr3:178884779..178886698,2	K562	blood:
6	chr3:178883467..178885785-chr3:178891482..178893959,2	K562	blood:
7	chr3:178884535..178886468-chr3:178887552..178889136,2	K562	blood:
8	chr3:178864911..178866513-chr3:178885186..178888175,2	MCF-7	breast:
9	chr3:178884535..178886468-chr3:178887552..178889136,2	K562	blood:

Variant related genes	Relation type
ENSG00000201957	TF binding region
ENSG00000201957	chromatin interactions
ENSG00000121879	chromatin interactions
ENSG00000229102	chromatin interactions

Extended variants
information (count: 178 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1517585	chr3:178883172-178883173	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533637029	chr3:178883185-178883186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553468759	chr3:178883203-178883204	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs568416622	chr3:178883287-178883288	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs369961202	chr3:178883293-178883294	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs2677761	chr3:178883305-178883306	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs373812878	chr3:178883325-178883326	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs148091334	chr3:178883333-178883334	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs181807192	chr3:178883490-178883491	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs575842843	chr3:178883514-178883515	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs187112550	chr3:178883554-178883555	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs561107944	chr3:178883574-178883575	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs534221252	chr3:178883586-178883587	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574789889	chr3:178883592-178883593	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs540702318	chr3:178883633-178883634	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs140857618	chr3:178883691-178883692	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs191441816	chr3:178883735-178883736	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs183347722	chr3:178883746-178883747	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs150169146	chr3:178883760-178883761	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs531486828	chr3:178883810-178883811	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs112194948	chr3:178883856-178883857	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs567930751	chr3:178883885-178883886	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs527306846	chr3:178883895-178883896	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs1517586	chr3:178883908-178883909	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs564635328	chr3:178883949-178883950	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs76331180	chr3:178883974-178883975	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs566400552	chr3:178883978-178883979	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187784725	chr3:178884025-178884026	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs558703197	chr3:178884130-178884131	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs191057646	chr3:178884160-178884161	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs558419247	chr3:178884228-178884229	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs538551305	chr3:178884240-178884241	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs538119268	chr3:178884268-178884269	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs570658264	chr3:178884282-178884283	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs386668730	chr3:178884283-178884284	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs11273375	chr3:178884284-178884285	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs555264908	chr3:178884287-178884288	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs75293344	chr3:178884288-178884289	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs574568526	chr3:178884293-178884294	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs377040670	chr3:178884296-178884297	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs574696080	chr3:178884325-178884326	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs2699905	chr3:178884337-178884338	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs554248255	chr3:178884378-178884379	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs138583225	chr3:178884396-178884397	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs141796013	chr3:178884426-178884427	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs182432481	chr3:178884478-178884479	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs575436650	chr3:178884522-178884523	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs531550665	chr3:178884539-178884540	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs541732238	chr3:178884562-178884563	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs562021792	chr3:178884570-178884571	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Endometrial cancer	19261849	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	18632612	CNVD
Autism	20685689	CNVD
Human papillomavirus	17975027	CNVD
Adenocarcinoma	18757405	CNVD
Lung cancer	18757405	CNVD
Squamous cell cancer	18757405	CNVD
small cell lung cancer	18757405	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178867600-178883400	Weak transcription	Stomach Mucosa	stomach
2	chr3:178867800-178900200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr3:178868000-178892400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr3:178868600-178893000	Weak transcription	Aorta	Aorta
5	chr3:178869200-178898000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr3:178869400-178887200	Weak transcription	Fetal Brain Male	brain
7	chr3:178869800-178883400	Weak transcription	Liver	Liver
8	chr3:178870800-178896400	Weak transcription	K562	blood
9	chr3:178872400-178883200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:178874800-178883400	Weak transcription	Fetal Kidney	kidney
11	chr3:178874800-178888600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr3:178876800-178884200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:178877000-178883400	Weak transcription	Fetal Heart	heart
14	chr3:178877400-178897800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:178879000-178883200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:178879000-178883200	Weak transcription	Psoas Muscle	Psoas
17	chr3:178879000-178885600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr3:178879200-178883800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr3:178879200-178891800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr3:178879400-178892000	Weak transcription	Lung	lung
21	chr3:178879400-178896400	Weak transcription	Right Atrium	heart
22	chr3:178879600-178883400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr3:178879600-178896400	Weak transcription	Left Ventricle	heart
24	chr3:178880400-178887800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr3:178880800-178883200	Enhancers	Primary B cells from cord blood	blood
26	chr3:178881000-178885800	Enhancers	Primary B cells from peripheral blood	blood
27	chr3:178881200-178884200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:178881600-178883800	Weak transcription	GM12878-XiMat	blood
29	chr3:178882200-178883600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr3:178882200-178883600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr3:178882600-178883200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:178882800-178883400	Enhancers	Adipose Nuclei	Adipose
33	chr3:178882800-178883600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr3:178882800-178883600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr3:178882800-178884600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr3:178883000-178883400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:178883000-178883600	Enhancers	Colon Smooth Muscle	Colon
38	chr3:178883000-178883600	Enhancers	Ovary	ovary
39	chr3:178883200-178883400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:178883200-178883600	Genic enhancers	Primary B cells from cord blood	blood
41	chr3:178883200-178883600	Bivalent Enhancer	Gastric	stomach
42	chr3:178883200-178883600	Enhancers	Psoas Muscle	Psoas
43	chr3:178883200-178883600	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr3:178883200-178884800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr3:178883400-178883600	Enhancers	Liver	Liver
46	chr3:178883400-178883600	Enhancers	Fetal Heart	heart
47	chr3:178883400-178883600	Enhancers	Stomach Mucosa	stomach
48	chr3:178883400-178883800	Enhancers	Fetal Kidney	kidney
49	chr3:178883400-178884400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:178883400-178884400	Weak transcription	Adipose Nuclei	Adipose

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