Variant report

Variant	nsv980970
Chromosome Location	chr5:43636826-43643825
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	chr5:43638724-43638921	Hela-S3	cervix:	n/a	n/a
2	CUX1	chr5:43638786-43638798	GM12878	blood:	n/a	n/a
3	EP300	chr5:43638775-43638910	Hela-S3	cervix:	n/a	n/a
4	FAM48A	chr5:43640293-43640395	GM12878	blood:	n/a	n/a
5	FOS	chr5:43638707-43638937	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr5:43638685-43638994	MCF10A-Er-Src	breast:	n/a	n/a
7	MXI1	chr5:43643622-43644429	SK-N-SH	brain:	n/a	n/a
8	MYC	chr5:43639799-43639991	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr5:43638781-43639053	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr5:43638251-43638321	ProgFib	skin:	n/a	n/a
11	POLR2A	chr5:43643188-43643300	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr5:43638370-43638430	K562	blood:	n/a	n/a
13	SPI1	chr5:43638283-43638579	GM12891	blood:	n/a	n/a
14	STAT3	chr5:43637610-43637810	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr5:43642307-43642389	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr5:43638678-43639022	MCF10A-Er-Src	breast:	n/a	chr5:43638847-43638855 chr5:43638818-43638826
17	STAT3	chr5:43638683-43639024	MCF10A-Er-Src	breast:	n/a	chr5:43638847-43638855 chr5:43638818-43638826
18	STAT3	chr5:43643412-43643595	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr5:43637235-43637365	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr5:43639726-43639916	MCF10A-Er-Src	breast:	n/a	chr5:43639829-43639836
21	STAT3	chr5:43638787-43638916	Hela-S3	cervix:	n/a	chr5:43638847-43638855 chr5:43638818-43638826
22	STAT3	chr5:43638683-43639017	MCF10A-Er-Src	breast:	n/a	chr5:43638847-43638855 chr5:43638818-43638826

No.	Distal block	Cell Line	Cell type
1	chr5:43636622..43638460-chr5:43641354..43643193,2	K562	blood:
2	chr5:43638584..43640826-chr5:43640928..43642967,3	K562	blood:
3	chr5:43633423..43636903-chr5:43637902..43641426,4	K562	blood:
4	chr5:43638584..43640141-chr5:43640928..43642967,2	K562	blood:
5	chr5:43636622..43638460-chr5:43641354..43643193,2	K562	blood:
6	chr5:43633423..43636903-chr5:43637902..43641426,4	K562	blood:
7	chr5:43638584..43640826-chr5:43640928..43642967,3	K562	blood:
8	chr5:43638584..43640141-chr5:43640928..43642967,2	K562	blood:

Variant related genes	Relation type
NNT	TF binding region

Extended variants
information (count: 210 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34333213	chr5:43636886-43636887	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543792311	chr5:43636913-43636914	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563679959	chr5:43636945-43636946	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11747356	chr5:43636973-43636974	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547137154	chr5:43636993-43636994	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529370211	chr5:43637002-43637003	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549635544	chr5:43637022-43637023	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566246249	chr5:43637050-43637051	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559710674	chr5:43637175-43637176	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7713458	chr5:43637233-43637234	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs189594378	chr5:43637238-43637239	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150357795	chr5:43637379-43637380	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539106734	chr5:43637396-43637397	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556102041	chr5:43637398-43637399	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372715950	chr5:43637400-43637401	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569683927	chr5:43637427-43637428	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191877489	chr5:43637442-43637443	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183960593	chr5:43637456-43637457	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76906368	chr5:43637457-43637458	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73751789	chr5:43637469-43637470	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs143775099	chr5:43637472-43637473	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577867492	chr5:43637572-43637573	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147208989	chr5:43637639-43637640	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140719508	chr5:43637652-43637653	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574201453	chr5:43637664-43637665	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10462053	chr5:43637703-43637704	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs149342270	chr5:43637764-43637765	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368986769	chr5:43637829-43637830	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528734678	chr5:43637931-43637932	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189078968	chr5:43638056-43638057	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs181466791	chr5:43638075-43638076	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs531219348	chr5:43638087-43638088	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs549526631	chr5:43638101-43638102	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs569606383	chr5:43638113-43638114	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs35427223	chr5:43638116-43638117	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs535179842	chr5:43638135-43638136	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs111739653	chr5:43638145-43638146	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs533034495	chr5:43638179-43638180	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs565428292	chr5:43638191-43638192	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs186362391	chr5:43638213-43638214	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs372746731	chr5:43638221-43638222	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs190498995	chr5:43638240-43638241	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs537320518	chr5:43638279-43638280	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs557078023	chr5:43638357-43638358	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs574040318	chr5:43638364-43638365	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs543031608	chr5:43638400-43638401	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs559932360	chr5:43638419-43638420	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573351678	chr5:43638564-43638565	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568324142	chr5:43638587-43638588	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75032978	chr5:43638590-43638591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21569311	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43604400-43649200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:43604400-43649200	Weak transcription	Esophagus	oesophagus
3	chr5:43604400-43660600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:43604600-43649800	Weak transcription	Colonic Mucosa	Colon
5	chr5:43604800-43649800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:43605000-43656000	Weak transcription	Small Intestine	intestine
7	chr5:43606800-43648200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:43608400-43640600	Strong transcription	Dnd41	blood
9	chr5:43610800-43649400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr5:43612600-43649400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr5:43612800-43647400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:43613400-43645400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:43613800-43646200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:43614000-43647600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:43616000-43648200	Weak transcription	HepG2	liver
16	chr5:43619000-43642800	Weak transcription	Fetal Brain Male	brain
17	chr5:43620200-43650600	Weak transcription	Placenta	Placenta
18	chr5:43621200-43650200	Weak transcription	NHEK	skin
19	chr5:43621600-43651800	Weak transcription	HMEC	breast
20	chr5:43621800-43667400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:43622200-43648200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:43623400-43645400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:43624200-43649200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:43628200-43638400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:43629000-43644400	Weak transcription	Fetal Intestine Small	intestine
26	chr5:43630000-43638200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:43630200-43648800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:43630200-43658800	Weak transcription	Stomach Mucosa	stomach
29	chr5:43630600-43640800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:43631000-43638200	Strong transcription	Fetal Thymus	thymus
31	chr5:43631000-43638200	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:43631000-43640600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:43631200-43638000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:43631600-43637600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:43631600-43637600	Weak transcription	Lung	lung
36	chr5:43631600-43638200	Strong transcription	Fetal Muscle Leg	muscle
37	chr5:43631600-43638400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr5:43631600-43642200	Weak transcription	Brain Hippocampus Middle	brain
39	chr5:43631600-43649200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr5:43631600-43651400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr5:43631600-43664200	Weak transcription	A549	lung
42	chr5:43632200-43637200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr5:43632200-43638000	Strong transcription	Primary hematopoietic stem cells	blood
44	chr5:43633000-43637000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr5:43633000-43637200	Weak transcription	Thymus	Thymus
46	chr5:43633000-43649200	Weak transcription	Ovary	ovary
47	chr5:43633200-43642200	Weak transcription	Osteobl	bone
48	chr5:43633200-43642400	Weak transcription	Brain Anterior Caudate	brain
49	chr5:43633200-43643200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr5:43633200-43644600	Weak transcription	NH-A	brain

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