Variant report

Variant	esv1803359
Chromosome Location	chr5:89174784-89197681
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr5:89189365-89189621	K562	blood:	n/a	n/a
2	CBX3	chr5:89189311-89189732	HCT-116	colon:	n/a	n/a
3	CBX3	chr5:89189408-89189705	HCT-116	colon:	n/a	n/a
4	CEBPB	chr5:89195801-89195844	A549	lung:	n/a	n/a
5	CTCF	chr5:89178706-89178820	Lung_OC	lung:	n/a	n/a
6	CTCF	chr5:89182620-89182770	AG10803	skin:	n/a	n/a
7	E2F4	chr5:89196094-89196456	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr5:89195845-89196105	SK-N-SH_RA	brain:	n/a	n/a
9	FOS	chr5:89196024-89196195	MCF10A-Er-Src	breast:	n/a	n/a
10	IRF3	chr5:89183776-89183900	GM12878	blood:	n/a	n/a
11	JUN	chr5:89174054-89174845	K562	blood:	n/a	n/a
12	KAP1	chr5:89189283-89189894	HEK293	kidney:	n/a	n/a
13	KAP1	chr5:89189239-89189697	K562	blood:	n/a	n/a
14	MAFF	chr5:89175912-89176076	HepG2	liver:	n/a	n/a
15	MAFK	chr5:89175946-89176014	HepG2	liver:	n/a	n/a
16	MAFK	chr5:89175840-89176040	HepG2	liver:	n/a	n/a
17	MYC	chr5:89179295-89179359	GM12878	blood:	n/a	n/a
18	NFYB	chr5:89185999-89186191	GM12878	blood:	n/a	n/a
19	SETDB1	chr5:89189112-89189763	U2OS	brain:	n/a	n/a
20	SPI1	chr5:89193567-89193816	GM12891	blood:	n/a	n/a
21	SPI1	chr5:89193534-89193814	GM12878	blood:	n/a	n/a
22	SPI1	chr5:89193547-89193815	GM12891	blood:	n/a	n/a
23	STAT3	chr5:89192872-89192886	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr5:89197345-89197421	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr5:89189551-89189558	GM12878	blood:	n/a	n/a
26	ZNF143	chr5:89189461-89189641	GM12878	blood:	n/a	n/a
27	ZNF143	chr5:89189455-89189571	K562	blood:	n/a	n/a
28	ZNF143	chr5:89189376-89189720	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:89170283..89171979-chr5:89179942..89181450,2	K562	blood:
2	chr5:89176373..89178568-chr5:89182112..89184603,2	K562	blood:
3	chr5:89176373..89178568-chr5:89182112..89184603,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POLR3G-3	chr5:89196481-89197018	XLOC_004465

No data

Variant related genes	Relation type
ENSG00000214942	TF binding region
ZIC5	miRNA target sites

Extended variants
information (count: 482 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2112270	chr5:89174784-89174785	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs35136878	chr5:89174869-89174870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs386689967	chr5:89174871-89174872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376213416	chr5:89174872-89174873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1367377	chr5:89174879-89174880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs2161144	chr5:89174892-89174893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571393130	chr5:89174901-89174902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201299305	chr5:89174927-89174928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs66802850	chr5:89174930-89174931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs151044475	chr5:89174965-89174966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188421289	chr5:89174995-89174996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7736645	chr5:89175091-89175092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576792385	chr5:89175161-89175162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539367099	chr5:89175177-89175178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559312227	chr5:89175195-89175196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369411747	chr5:89175274-89175275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144412009	chr5:89175322-89175323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574300812	chr5:89175332-89175333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537413902	chr5:89175338-89175339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367554012	chr5:89175351-89175352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181847584	chr5:89175363-89175364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541270643	chr5:89175364-89175365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62380264	chr5:89175432-89175433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565741628	chr5:89175485-89175486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560192340	chr5:89175503-89175504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1430619	chr5:89175522-89175523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs62380265	chr5:89175537-89175538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs187299336	chr5:89175611-89175612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190104848	chr5:89175651-89175652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181745409	chr5:89175659-89175660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565043341	chr5:89175668-89175669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527433268	chr5:89175707-89175708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560285928	chr5:89175716-89175717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547320444	chr5:89175718-89175719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567739760	chr5:89175817-89175818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145079081	chr5:89175839-89175840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138872391	chr5:89175888-89175889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17587156	chr5:89175905-89175906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs140639659	chr5:89175973-89175974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559163059	chr5:89176005-89176006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186295743	chr5:89176155-89176156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368734837	chr5:89176176-89176177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534535613	chr5:89176192-89176193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62380266	chr5:89176217-89176218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs150462297	chr5:89176264-89176265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80157943	chr5:89176276-89176277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539507805	chr5:89176289-89176290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115864774	chr5:89176342-89176343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10038648	chr5:89176396-89176397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs544608537	chr5:89176503-89176504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Colorectal cancer	16774939	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89173600-89174800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr5:89173600-89174800	Enhancers	HMEC	breast
3	chr5:89174200-89179600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:89179200-89180200	Enhancers	Primary B cells from peripheral blood	blood
5	chr5:89179600-89180000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr5:89181600-89186000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:89185400-89186600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr5:89185800-89186400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:89185800-89186800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:89185800-89186800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:89185800-89186800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:89186000-89186600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:89186000-89186600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:89186000-89186600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:89186000-89186800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:89186000-89186800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr5:89186400-89186800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr5:89192400-89197800	Weak transcription	Psoas Muscle	Psoas
19	chr5:89194400-89196800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr5:89196000-89196200	Enhancers	Colon Smooth Muscle	Colon
21	chr5:89196200-89196400	Enhancers	NHDF-Ad	bronchial
22	chr5:89196800-89197800	Enhancers	Fetal Brain Male	brain
23	chr5:89196800-89197800	Weak transcription	NHDF-Ad	bronchial
24	chr5:89196800-89198400	Enhancers	Fetal Brain Female	brain
25	chr5:89196800-89198400	Enhancers	Rectal Smooth Muscle	rectum
26	chr5:89197200-89197600	Enhancers	Brain Germinal Matrix	brain
27	chr5:89197200-89197600	Active TSS	Stomach Smooth Muscle	stomach
28	chr5:89197200-89197800	Enhancers	Colon Smooth Muscle	Colon
29	chr5:89197200-89198200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr5:89197200-89198600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr5:89197600-89198000	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr5:89197600-89198200	Enhancers	Ovary	ovary
33	chr5:89197600-89198200	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr5:89197600-89199200	Active TSS	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links