Variant report

Variant	esv3363546
Chromosome Location	chr5:37243045-37244943
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:37244268..37246209-chr5:37246679..37250816,3	MCF-7	breast:
2	chr5:37231083..37232617-chr5:37243518..37245919,2	K562	blood:
3	chr5:37244319..37247437-chr5:37248031..37251100,3	MCF-7	breast:
4	chr5:37230434..37232617-chr5:37243518..37246467,2	K562	blood:
5	chr5:37239505..37242479-chr5:37244689..37246213,2	MCF-7	breast:
6	chr5:37242850..37244799-chr5:37268818..37270992,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197603	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 98 )

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	rs189788211	chr5:37243061-37243062	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370118778	chr5:37243130-37243131	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543556323	chr5:37243146-37243147	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372873088	chr5:37243164-37243165	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144969169	chr5:37243184-37243185	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528959297	chr5:37243294-37243295	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138827261	chr5:37243332-37243333	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182320003	chr5:37243613-37243614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187737398	chr5:37243614-37243615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551215698	chr5:37243623-37243624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569738323	chr5:37243632-37243633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74857968	chr5:37243699-37243700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192699861	chr5:37243704-37243705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10042473	chr5:37243753-37243754	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs569889626	chr5:37243774-37243775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35135373	chr5:37243896-37243897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567685025	chr5:37243918-37243919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558810704	chr5:37243958-37243959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372677145	chr5:37243969-37243970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75978633	chr5:37243970-37243971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535117122	chr5:37244016-37244017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553334269	chr5:37244039-37244040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145519348	chr5:37244048-37244049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545397739	chr5:37244073-37244074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184989764	chr5:37244116-37244117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575991527	chr5:37244141-37244142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368379336	chr5:37244158-37244159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543469342	chr5:37244199-37244200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34329352	chr5:37244222-37244223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551685748	chr5:37244244-37244245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189871436	chr5:37244248-37244249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561663287	chr5:37244278-37244279	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs529019358	chr5:37244301-37244302	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs541080484	chr5:37244354-37244355	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559287211	chr5:37244357-37244358	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs115254933	chr5:37244372-37244373	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs10072236	chr5:37244445-37244446	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs111527747	chr5:37244454-37244455	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs117069814	chr5:37244522-37244523	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs549015748	chr5:37244604-37244605	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs73750958	chr5:37244669-37244670	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs534807606	chr5:37244709-37244710	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs188703076	chr5:37244768-37244769	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs527629093	chr5:37244793-37244794	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs78181246	chr5:37244795-37244796	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs569887754	chr5:37244803-37244804	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs371179865	chr5:37244814-37244815	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs376095866	chr5:37244843-37244844	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547377851	chr5:37244867-37244868	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557566681	chr5:37244880-37244881	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	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
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	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
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37171600-37249000	Weak transcription	Spleen	Spleen
2	chr5:37209600-37248000	Weak transcription	Gastric	stomach
3	chr5:37209600-37248400	Weak transcription	NHEK	skin
4	chr5:37215000-37248400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr5:37215200-37248200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr5:37216600-37248000	Weak transcription	Pancreas	Pancrea
7	chr5:37224200-37247200	Weak transcription	HUVEC	blood vessel
8	chr5:37225600-37248600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:37226800-37248000	Weak transcription	HepG2	liver
10	chr5:37227200-37248400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:37227400-37248400	Weak transcription	HMEC	breast
12	chr5:37227400-37248400	Weak transcription	NHLF	lung
13	chr5:37227400-37248600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:37227800-37246200	Weak transcription	NH-A	brain
15	chr5:37227800-37248600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr5:37232800-37245000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:37233400-37248600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:37234000-37248600	Weak transcription	Esophagus	oesophagus
19	chr5:37234400-37248200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:37234400-37248400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr5:37235000-37247200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr5:37235200-37244800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:37235400-37245000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:37235600-37243400	Strong transcription	Dnd41	blood
25	chr5:37235600-37245000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:37235600-37248200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr5:37236000-37243200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:37236000-37243200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:37236000-37244600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:37236200-37243600	Strong transcription	Placenta	Placenta
31	chr5:37236400-37243200	Strong transcription	Fetal Muscle Leg	muscle
32	chr5:37236400-37248200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr5:37236800-37248600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr5:37237000-37243200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:37237000-37243400	Strong transcription	Osteobl	bone
36	chr5:37237000-37245000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:37237200-37247200	Weak transcription	GM12878-XiMat	blood
38	chr5:37237200-37248600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr5:37237400-37243200	Strong transcription	Fetal Stomach	stomach
40	chr5:37237600-37245000	Weak transcription	Fetal Brain Male	brain
41	chr5:37237600-37245600	Weak transcription	Fetal Heart	heart
42	chr5:37237600-37248600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr5:37237800-37243200	Strong transcription	Fetal Intestine Large	intestine
44	chr5:37237800-37245000	Strong transcription	Fetal Intestine Small	intestine
45	chr5:37237800-37248400	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr5:37238200-37247400	Weak transcription	A549	lung
47	chr5:37238400-37245000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:37238400-37247200	Weak transcription	Brain Substantia Nigra	brain
49	chr5:37238400-37247600	Weak transcription	Primary T cells from cord blood	blood
50	chr5:37238400-37248200	Weak transcription	Psoas Muscle	Psoas

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