Variant report

Variant	nsv964782
Chromosome Location	chr5:94019632-94020856
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:94020834..94023576-chr5:94026554..94028869,2	K562	blood:

Variant related genes	Relation type
ENSG00000133302	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 79 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147603237	chr5:94019658-94019659	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541440814	chr5:94019744-94019745	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561326343	chr5:94019751-94019752	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553566656	chr5:94019752-94019753	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2112449	chr5:94019780-94019781	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs563526518	chr5:94019826-94019827	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532288794	chr5:94019830-94019831	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184495455	chr5:94019864-94019865	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575658118	chr5:94019887-94019888	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188205438	chr5:94020008-94020009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565856151	chr5:94020132-94020133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534272771	chr5:94020137-94020138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547790194	chr5:94020142-94020143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561624417	chr5:94020154-94020155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182083763	chr5:94020170-94020171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527406979	chr5:94020179-94020180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556467681	chr5:94020185-94020186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547482006	chr5:94020186-94020187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564158079	chr5:94020199-94020200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538885138	chr5:94020204-94020205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184949421	chr5:94020205-94020206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572661588	chr5:94020207-94020208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541428307	chr5:94020209-94020210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189278814	chr5:94020210-94020211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181803556	chr5:94020214-94020215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186831633	chr5:94020219-94020220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532783593	chr5:94020220-94020221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113115923	chr5:94020230-94020231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532304161	chr5:94020252-94020253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552087653	chr5:94020319-94020320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143272521	chr5:94020327-94020328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569574532	chr5:94020339-94020340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528408147	chr5:94020352-94020353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547764721	chr5:94020374-94020375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191313611	chr5:94020391-94020392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79226135	chr5:94020402-94020403	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531108896	chr5:94020403-94020404	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75852581	chr5:94020426-94020427	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536665078	chr5:94020437-94020438	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550625266	chr5:94020446-94020447	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148331059	chr5:94020565-94020566	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539184165	chr5:94020585-94020586	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140512142	chr5:94020637-94020638	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145629274	chr5:94020648-94020649	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75149887	chr5:94020672-94020673	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538117200	chr5:94020680-94020681	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554987234	chr5:94020715-94020716	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548567653	chr5:94020727-94020728	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574850688	chr5:94020742-94020743	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543472708	chr5:94020817-94020818	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
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
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93955800-94027600	Weak transcription	NH-A	brain
2	chr5:93976800-94025000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:93991200-94049000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:93994200-94030800	Weak transcription	Right Ventricle	heart
5	chr5:93994200-94047200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:93994400-94022600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:93994400-94025400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr5:93994400-94027600	Weak transcription	Liver	Liver
9	chr5:93994400-94027600	Weak transcription	NHDF-Ad	bronchial
10	chr5:93994400-94029000	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:93994400-94048800	Weak transcription	Small Intestine	intestine
12	chr5:93994600-94026600	Weak transcription	Fetal Kidney	kidney
13	chr5:93994600-94029200	Weak transcription	Brain Anterior Caudate	brain
14	chr5:93994600-94032200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr5:93995400-94024800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr5:93995600-94024400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:93995600-94033000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:93995600-94050400	Weak transcription	Esophagus	oesophagus
19	chr5:93996000-94024000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr5:93996000-94027600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:93996000-94036000	Weak transcription	GM12878-XiMat	blood
22	chr5:93996200-94026600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:93996200-94029800	Weak transcription	Ovary	ovary
24	chr5:93996600-94023000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:93996600-94027800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:93996600-94048400	Weak transcription	Lung	lung
27	chr5:93996800-94036200	Weak transcription	Gastric	stomach
28	chr5:93997000-94033800	Weak transcription	Placenta	Placenta
29	chr5:94001000-94030000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr5:94001200-94022400	Weak transcription	Fetal Stomach	stomach
31	chr5:94001200-94023000	Weak transcription	Adipose Nuclei	Adipose
32	chr5:94001600-94024200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:94001800-94022400	Weak transcription	Thymus	Thymus
34	chr5:94001800-94027600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:94002000-94022200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr5:94003800-94023000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:94004000-94022600	Weak transcription	Fetal Intestine Large	intestine
38	chr5:94004600-94022400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:94007200-94025800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr5:94008600-94038600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:94008800-94027600	Weak transcription	Osteobl	bone
42	chr5:94009000-94024200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr5:94009600-94022600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:94010600-94027800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:94010800-94022200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:94010800-94022400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr5:94010800-94022400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr5:94010800-94024200	Strong transcription	Hela-S3	cervix
49	chr5:94010800-94024400	Weak transcription	Fetal Brain Male	brain
50	chr5:94010800-94024800	Weak transcription	HMEC	breast

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