Variant report

Variant	nsv329892
Chromosome Location	chr5:74689449-74691380
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	chr5:74688554..74690802-chr5:74806794..74808772,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113163	chromatin interactions
ENSG00000122008	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184919651	chr5:74689449-74689450	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs540643473	chr5:74689450-74689451	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs192002908	chr5:74689482-74689483	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs532771770	chr5:74689490-74689491	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs11959984	chr5:74689501-74689502	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs373760345	chr5:74689512-74689513	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs549883399	chr5:74689513-74689514	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs574915704	chr5:74689517-74689518	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs569642124	chr5:74689563-74689564	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs529135150	chr5:74689564-74689565	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs548859287	chr5:74689565-74689566	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs565988183	chr5:74689573-74689574	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs200425849	chr5:74689574-74689575	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs369524435	chr5:74689588-74689589	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs556516882	chr5:74689598-74689599	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs112595315	chr5:74689606-74689607	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs571696282	chr5:74689641-74689642	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs537032052	chr5:74689652-74689653	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs557466741	chr5:74689658-74689659	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs574045547	chr5:74689659-74689660	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs536855281	chr5:74689662-74689663	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs553119107	chr5:74689664-74689665	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs573224852	chr5:74689670-74689671	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs545324910	chr5:74689672-74689673	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs371220051	chr5:74689676-74689677	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs11960034	chr5:74689700-74689701	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs565225609	chr5:74689714-74689715	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs183858990	chr5:74689715-74689716	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs367877362	chr5:74689719-74689720	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs188052810	chr5:74689721-74689722	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs534125651	chr5:74689722-74689723	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs554432208	chr5:74689728-74689729	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs189691595	chr5:74689734-74689735	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs113790820	chr5:74689746-74689747	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs528939802	chr5:74689773-74689774	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs549213520	chr5:74689791-74689792	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs182313056	chr5:74689812-74689813	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs11960732	chr5:74689909-74689910	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs187059974	chr5:74689966-74689967	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs6898308	chr5:74690030-74690031	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs149392307	chr5:74690057-74690058	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs75795743	chr5:74690076-74690077	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs367895585	chr5:74690162-74690163	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs549863329	chr5:74690165-74690166	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs567765474	chr5:74690166-74690167	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs577599231	chr5:74690178-74690179	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs192733757	chr5:74690183-74690184	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs146215077	chr5:74690259-74690260	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs34733816	chr5:74690286-74690287	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs374248011	chr5:74690301-74690302	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Obesity	20935630	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74656400-74725600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:74656600-74694800	Weak transcription	Brain Angular Gyrus	brain
3	chr5:74656800-74731400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:74657800-74708000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:74659800-74720600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:74660000-74722800	Weak transcription	Fetal Heart	heart
7	chr5:74660200-74707800	Weak transcription	Stomach Mucosa	stomach
8	chr5:74665000-74703000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr5:74667000-74723200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr5:74667200-74693600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:74668600-74691200	Strong transcription	Liver	Liver
12	chr5:74670800-74709400	Weak transcription	Pancreas	Pancrea
13	chr5:74670800-74720600	Weak transcription	Right Ventricle	heart
14	chr5:74670800-74731400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:74671000-74722800	Weak transcription	Hela-S3	cervix
16	chr5:74674400-74761400	Weak transcription	Esophagus	oesophagus
17	chr5:74675400-74694800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:74675400-74699600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:74675400-74720800	Weak transcription	Small Intestine	intestine
20	chr5:74676200-74695000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:74676200-74721000	Weak transcription	Brain Hippocampus Middle	brain
22	chr5:74677000-74701000	Weak transcription	A549	lung
23	chr5:74677400-74722800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:74677600-74693600	Weak transcription	Colon Smooth Muscle	Colon
25	chr5:74677600-74709200	Weak transcription	Gastric	stomach
26	chr5:74677600-74734200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:74677800-74694800	Weak transcription	Fetal Kidney	kidney
28	chr5:74677800-74695200	Weak transcription	Brain Anterior Caudate	brain
29	chr5:74677800-74721000	Weak transcription	NH-A	brain
30	chr5:74677800-74725000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr5:74677800-74731400	Weak transcription	Aorta	Aorta
32	chr5:74678000-74708000	Weak transcription	NHLF	lung
33	chr5:74678000-74720600	Weak transcription	Colonic Mucosa	Colon
34	chr5:74678000-74730800	Weak transcription	Psoas Muscle	Psoas
35	chr5:74678200-74691200	Weak transcription	HepG2	liver
36	chr5:74680600-74721000	Weak transcription	HMEC	breast
37	chr5:74680800-74694800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr5:74680800-74722600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr5:74681000-74723200	Weak transcription	HUVEC	blood vessel
40	chr5:74681400-74694800	Weak transcription	Placenta	Placenta
41	chr5:74681400-74718400	Weak transcription	Brain Germinal Matrix	brain
42	chr5:74681600-74694800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr5:74681600-74695000	Weak transcription	Brain Substantia Nigra	brain
44	chr5:74681800-74720600	Weak transcription	Fetal Brain Male	brain
45	chr5:74682000-74695000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:74682000-74699000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr5:74682000-74708000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr5:74682200-74694200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr5:74682200-74705000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:74683200-74698600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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