Variant report

Variant	esv3370654
Chromosome Location	chr5:74322746-74323944
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	CTCF	chr5:74323672-74323744	GM13976	blood:	n/a	n/a
2	MAFK	chr5:74323511-74323688	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr5:74323607-74323807	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74318809..74320982-chr5:74323765..74325406,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249856	TF binding region
ENSG00000249856	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536400468	chr5:74322785-74322786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370629707	chr5:74322812-74322813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77148114	chr5:74322840-74322841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs398093484	chr5:74322845-74322846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34116730	chr5:74322982-74322983	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs566584159	chr5:74323025-74323026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199771784	chr5:74323104-74323105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200535035	chr5:74323108-74323109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201941638	chr5:74323118-74323119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71600449	chr5:74323119-74323120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554604569	chr5:74323126-74323127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548641212	chr5:74323128-74323129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200275570	chr5:74323130-74323131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375364254	chr5:74323131-74323132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377341246	chr5:74323132-74323133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201535580	chr5:74323154-74323155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558545438	chr5:74323157-74323158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371212229	chr5:74323158-74323159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199777547	chr5:74323161-74323162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs60782007	chr5:74323168-74323169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373193955	chr5:74323186-74323187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369150031	chr5:74323188-74323189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs5868758	chr5:74323189-74323190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386404137	chr5:74323194-74323195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397693172	chr5:74323195-74323196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9918155	chr5:74323227-74323228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200780230	chr5:74323269-74323270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565533792	chr5:74323315-74323316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73122556	chr5:74323371-74323372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs544152131	chr5:74323411-74323412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192741538	chr5:74323436-74323437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184575612	chr5:74323447-74323448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79804347	chr5:74323484-74323485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551005094	chr5:74323498-74323499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560289365	chr5:74323510-74323511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34018438	chr5:74323529-74323530	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs546391802	chr5:74323557-74323558	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs9293639	chr5:74323589-74323590	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs34368626	chr5:74323662-74323663	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs78710019	chr5:74323664-74323665	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs199806430	chr5:74323667-74323668	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs532037268	chr5:74323668-74323669	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs189848122	chr5:74323714-74323715	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs549026476	chr5:74323787-74323788	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs115228438	chr5:74323799-74323800	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs529799040	chr5:74323803-74323804	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs546747813	chr5:74323825-74323826	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs62369186	chr5:74323849-74323850	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs137916831	chr5:74323862-74323863	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs192794508	chr5:74323904-74323905	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	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
Hepatocellular carcinoma	16750200	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
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	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
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	22355333	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74313600-74341800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:74314600-74324800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:74315200-74332800	Weak transcription	NHDF-Ad	bronchial
4	chr5:74316200-74324200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr5:74316400-74328000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:74316400-74328200	Weak transcription	Placenta	Placenta
7	chr5:74316400-74330200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:74317200-74331400	Weak transcription	Fetal Intestine Large	intestine
9	chr5:74317400-74323800	Weak transcription	Gastric	stomach
10	chr5:74317400-74326800	Weak transcription	Fetal Intestine Small	intestine
11	chr5:74317600-74344200	Weak transcription	Ovary	ovary
12	chr5:74317800-74332600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:74319800-74330000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:74319800-74330200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:74320000-74325400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:74320200-74323600	Weak transcription	Primary T cells from cord blood	blood
17	chr5:74320200-74323800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:74320200-74324400	Weak transcription	Fetal Thymus	thymus
19	chr5:74320200-74329800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:74320400-74323400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr5:74320400-74323400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr5:74320400-74323600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:74320400-74324400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:74320400-74324400	Weak transcription	Thymus	Thymus
25	chr5:74320400-74329000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr5:74320400-74329200	Weak transcription	Stomach Mucosa	stomach
27	chr5:74320400-74332600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:74320600-74323400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr5:74320600-74323600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr5:74320600-74323600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr5:74320600-74323600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr5:74320600-74328000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr5:74320800-74329000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr5:74322200-74323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:74322600-74323200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr5:74322800-74334400	Weak transcription	Aorta	Aorta
37	chr5:74323200-74323800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr5:74323400-74325000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr5:74323400-74325400	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr5:74323400-74325400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr5:74323600-74324000	Enhancers	Primary T cells from cord blood	blood
42	chr5:74323600-74325600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr5:74323600-74325800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr5:74323600-74325800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr5:74323800-74324200	Enhancers	Gastric	stomach
46	chr5:74323800-74325400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr5:74323800-74326800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:74323800-74330000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood

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