Variant report

Variant	esv3516898
Chromosome Location	chr5:36740639-36744297
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:36740003..36742433-chr5:37003090..37005628,2	MCF-7	breast:
2	chr5:36731899..36747051-chr5:36866466..36880074,35	MCF-7	breast:
3	chr5:36736304..36738709-chr5:36742165..36743928,2	K562	blood:
4	chr5:36743708..36745991-chr5:36870504..36872039,2	K562	blood:
5	chr5:36743938..36745907-chr5:36986468..36988860,2	MCF-7	breast:
6	chr5:36743280..36745577-chr9:35070829..35072757,2	MCF-7	breast:
7	chr5:36741473..36743649-chr5:36746323..36748816,2	K562	blood:
8	chr5:36743906..36746722-chr5:37004914..37007847,3	MCF-7	breast:
9	chr5:36744297..36746833-chr5:36748799..36751172,2	K562	blood:
10	chr5:36741088..36745086-chr5:36779316..36782970,3	MCF-7	breast:
11	chr5:36743855..36746677-chr5:36948839..36952257,4	MCF-7	breast:
12	chr5:36735155..36740108-chr5:36743022..36746397,5	MCF-7	breast:
13	chr5:36737510..36747021-chr5:36869125..36879786,23	MCF-7	breast:
14	chr5:36742942..36746857-chr5:36753585..36757067,4	MCF-7	breast:
15	chr5:36737437..36743261-chr5:36869203..36877805,11	K562	blood:
16	chr5:36744217..36747059-chr5:36749428..36753398,8	MCF-7	breast:
17	chr5:36732120..36732892-chr5:36744110..36745030,3	MCF-7	breast:
18	chr5:36743568..36746318-chr5:37004430..37006314,2	MCF-7	breast:
19	chr5:36738583..36742028-chr5:37005460..37008682,3	K562	blood:
20	chr5:36735951..36742213-chr5:36874615..36878501,8	K562	blood:
21	chr5:36743974..36745923-chr5:36784208..36786489,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf42-7	chr5:36741580-36741636	l_2903_chr5:36738189-36741636_whiteBloodCell

No data

Variant related genes	Relation type
ENSG00000165280	chromatin interactions
ENSG00000164190	chromatin interactions

Extended variants
information (count: 119 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571165976	chr5:36740650-36740651	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs559228771	chr5:36740701-36740702	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs533107540	chr5:36740710-36740711	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs539723626	chr5:36740721-36740722	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs551381253	chr5:36740732-36740733	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs36675	chr5:36740757-36740758	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs537539254	chr5:36740777-36740778	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs377705162	chr5:36740818-36740819	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2886219	chr5:36740846-36740847	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs149189134	chr5:36740847-36740848	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534947147	chr5:36740866-36740867	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs13162139	chr5:36740918-36740919	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs77512718	chr5:36740947-36740948	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539414403	chr5:36740948-36740949	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs115364296	chr5:36740977-36740978	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs112493181	chr5:36740978-36740979	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs575974745	chr5:36741018-36741019	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs555260033	chr5:36741072-36741073	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs555211166	chr5:36741096-36741097	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs573737834	chr5:36741120-36741121	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs183088211	chr5:36741314-36741315	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs186967257	chr5:36741335-36741336	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs537672863	chr5:36741336-36741337	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs116783598	chr5:36741404-36741405	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs190281461	chr5:36741432-36741433	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563679658	chr5:36741448-36741449	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs143366823	chr5:36741463-36741464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs577523495	chr5:36741479-36741480	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs148319159	chr5:36741486-36741487	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs528650300	chr5:36741491-36741492	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547238592	chr5:36741501-36741502	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs571936675	chr5:36741504-36741505	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs553774337	chr5:36741511-36741512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs540634201	chr5:36741574-36741575	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs573632696	chr5:36741656-36741657	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs182124294	chr5:36741721-36741722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs569622989	chr5:36741737-36741738	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs113223611	chr5:36741740-36741741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs542918999	chr5:36741797-36741798	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs573675012	chr5:36741825-36741826	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs577243976	chr5:36741862-36741863	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs540791224	chr5:36741882-36741883	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs77697201	chr5:36741900-36741901	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs577445201	chr5:36741918-36741919	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs544902274	chr5:36741922-36741923	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs563478462	chr5:36741925-36741926	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs561187310	chr5:36741928-36741929	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs138266070	chr5:36741934-36741935	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs374469407	chr5:36741945-36741946	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs562457325	chr5:36741973-36741974	Weak transcription Enhancers	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
prenatal diagnosis	22389664	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
Breast cancer	21364760	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

Chromatin state (count:232 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36729200-36744200	Weak transcription	Spleen	Spleen
2	chr5:36738000-36743800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:36738800-36743000	Weak transcription	Fetal Brain Female	brain
4	chr5:36739200-36742200	Enhancers	Stomach Mucosa	stomach
5	chr5:36739200-36742400	Enhancers	Fetal Muscle Leg	muscle
6	chr5:36739400-36740800	Flanking Active TSS	K562	blood
7	chr5:36739400-36741800	Enhancers	Fetal Intestine Small	intestine
8	chr5:36739600-36741600	Enhancers	Duodenum Mucosa	Duodenum
9	chr5:36739800-36742200	Enhancers	Fetal Lung	lung
10	chr5:36739800-36744400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:36740000-36740800	Enhancers	NH-A	brain
12	chr5:36740000-36741800	Enhancers	Gastric	stomach
13	chr5:36740000-36741800	Enhancers	Pancreas	Pancrea
14	chr5:36740000-36742000	Enhancers	Fetal Kidney	kidney
15	chr5:36740000-36743800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:36740200-36741000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:36740200-36741000	Enhancers	HSMM	muscle
18	chr5:36740200-36741200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:36740200-36741400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:36740200-36741400	Enhancers	Fetal Muscle Trunk	muscle
21	chr5:36740200-36742400	Enhancers	Fetal Stomach	stomach
22	chr5:36740200-36743800	Weak transcription	NHEK	skin
23	chr5:36740200-36744000	Weak transcription	Brain Anterior Caudate	brain
24	chr5:36740400-36740800	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr5:36740400-36741400	Enhancers	Fetal Intestine Large	intestine
26	chr5:36740400-36741400	Enhancers	HSMMtube	muscle
27	chr5:36740400-36743800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr5:36740600-36740800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr5:36740600-36740800	Enhancers	Right Atrium	heart
30	chr5:36740600-36741000	Enhancers	Small Intestine	intestine
31	chr5:36740600-36744000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:36740600-36744000	Weak transcription	Osteobl	bone
33	chr5:36740800-36741000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr5:36740800-36741400	Enhancers	K562	blood
35	chr5:36740800-36743800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr5:36740800-36744000	Weak transcription	Right Atrium	heart
37	chr5:36740800-36744200	Weak transcription	NH-A	brain
38	chr5:36741000-36743800	Weak transcription	Small Intestine	intestine
39	chr5:36741000-36744000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr5:36741000-36744000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr5:36741000-36744200	Weak transcription	HSMM	muscle
42	chr5:36741200-36744000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:36741400-36743200	Weak transcription	Fetal Intestine Large	intestine
44	chr5:36741400-36743800	Weak transcription	K562	blood
45	chr5:36741400-36744000	Weak transcription	HSMMtube	muscle
46	chr5:36741400-36744200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr5:36741600-36743600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr5:36741800-36743000	Weak transcription	Fetal Intestine Small	intestine
49	chr5:36741800-36743800	Weak transcription	Pancreas	Pancrea
50	chr5:36741800-36744000	Weak transcription	Gastric	stomach

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