Variant report

Variant	esv19333
Chromosome Location	chr5:145209035-145213523
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:145191897..145193671-chr5:145207985..145210429,2	MCF-7	breast:
2	chr5:145204699..145206468-chr5:145210985..145212863,2	K562	blood:
3	chr5:145206512..145209895-chr5:145210961..145215368,4	MCF-7	breast:
4	chr5:145203763..145206199-chr5:145209923..145212863,2	K562	blood:
5	chr5:145209353..145211706-chr5:145407093..145409192,2	MCF-7	breast:
6	chr2:58199993..58202992-chr5:145207291..145209292,2	K562	blood:
7	chr5:145207820..145210884-chr5:145212299..145217868,7	K562	blood:
8	chr5:145213194..145215106-chr5:145826697..145828661,2	K562	blood:
9	chr5:145207703..145209217-chr5:145264749..145267646,2	K562	blood:
10	chr5:145207166..145210517-chr5:145212091..145218293,8	K562	blood:
11	chr5:145213219..145215164-chr5:145314647..145317040,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000113649	chromatin interactions
ENSG00000186314	chromatin interactions
ENSG00000156463	chromatin interactions

Extended variants
information (count: 183 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4529254	chr5:145209035-145209036	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553282861	chr5:145209050-145209051	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571581679	chr5:145209058-145209059	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527671987	chr5:145209087-145209088	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547817134	chr5:145209161-145209162	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139212013	chr5:145209184-145209185	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs115185768	chr5:145209201-145209202	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs115648423	chr5:145209206-145209207	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs78065542	chr5:145209274-145209275	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538367423	chr5:145209320-145209321	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs663205	chr5:145209420-145209421	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs149918716	chr5:145209428-145209429	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182953191	chr5:145209453-145209454	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs554610895	chr5:145209487-145209488	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs76584019	chr5:145209489-145209490	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs188833631	chr5:145209494-145209495	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs543708253	chr5:145209513-145209514	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs575608512	chr5:145209524-145209525	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs394386	chr5:145209571-145209572	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs442708	chr5:145209673-145209674	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs532325644	chr5:145209676-145209677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs545554496	chr5:145209699-145209700	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533400772	chr5:145209709-145209710	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565370943	chr5:145209712-145209713	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs527732338	chr5:145209723-145209724	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs547773034	chr5:145209736-145209737	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374220348	chr5:145209739-145209740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs453811	chr5:145209769-145209770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs371480	chr5:145209816-145209817	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs190399273	chr5:145209850-145209851	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs529222564	chr5:145209964-145209965	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569942964	chr5:145209967-145209968	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs538831941	chr5:145210027-145210028	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs443033	chr5:145210041-145210042	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs565761753	chr5:145210069-145210070	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs649731	chr5:145210126-145210127	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs619937	chr5:145210160-145210161	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs620323	chr5:145210198-145210199	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs183398977	chr5:145210208-145210209	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs574459179	chr5:145210241-145210242	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs2009683	chr5:145210293-145210294	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs146488943	chr5:145210383-145210384	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs34811451	chr5:145210432-145210433	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187810403	chr5:145210442-145210443	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559236273	chr5:145210444-145210445	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs572512313	chr5:145210448-145210449	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs541132315	chr5:145210480-145210481	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs560967966	chr5:145210481-145210482	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs139941985	chr5:145210485-145210486	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs1549900	chr5:145210489-145210490	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	16864856	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145162800-145212800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:145170600-145213400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:145172800-145214200	Weak transcription	Right Ventricle	heart
4	chr5:145174200-145209200	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:145177200-145209200	Weak transcription	NH-A	brain
6	chr5:145179400-145209400	Weak transcription	Stomach Mucosa	stomach
7	chr5:145183600-145214000	Weak transcription	Fetal Kidney	kidney
8	chr5:145187000-145209200	Weak transcription	A549	lung
9	chr5:145192800-145209200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:145195200-145212800	Weak transcription	Colonic Mucosa	Colon
11	chr5:145196200-145211800	Weak transcription	Gastric	stomach
12	chr5:145196800-145214000	Weak transcription	Fetal Stomach	stomach
13	chr5:145197800-145209200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:145198000-145213600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:145198200-145210200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:145198800-145212000	Weak transcription	Aorta	Aorta
17	chr5:145201400-145209400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr5:145201400-145214200	Weak transcription	Lung	lung
19	chr5:145201800-145210400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:145204000-145209200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:145204000-145209600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:145204200-145209200	Weak transcription	Fetal Lung	lung
23	chr5:145204200-145209600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:145205400-145209400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:145207200-145214200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:145207400-145212600	Weak transcription	Fetal Intestine Small	intestine
27	chr5:145207400-145212800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:145207400-145213800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:145207400-145214000	Weak transcription	NHEK	skin
30	chr5:145207600-145209200	Weak transcription	K562	blood
31	chr5:145208400-145213600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr5:145208600-145209400	Enhancers	Pancreas	Pancrea
33	chr5:145208600-145209800	Enhancers	Fetal Heart	heart
34	chr5:145208800-145209800	Enhancers	Hela-S3	cervix
35	chr5:145208800-145210400	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr5:145208800-145213400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:145209000-145209200	Enhancers	Small Intestine	intestine
38	chr5:145209000-145209400	Enhancers	Ovary	ovary
39	chr5:145209000-145209800	Enhancers	Fetal Intestine Large	intestine
40	chr5:145209000-145210000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:145209000-145210000	Enhancers	Duodenum Mucosa	Duodenum
42	chr5:145209000-145210800	Enhancers	Liver	Liver
43	chr5:145209000-145211000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr5:145209000-145211200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:145209000-145211200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr5:145209000-145211200	Enhancers	HUVEC	blood vessel
47	chr5:145209000-145211400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:145209000-145211600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:145209000-145211600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr5:145209000-145213400	Enhancers	HepG2	liver

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