Variant report

Variant	nsv526623
Chromosome Location	chr9:110503765-110504358
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:110251154..110252819-chr9:110502244..110504957,2	MCF-7	breast:
2	chr9:110249403..110253964-chr9:110500193..110503915,6	MCF-7	breast:
3	chr9:110500719..110502247-chr9:110502621..110504318,2	MCF-7	breast:
4	chr9:110503474..110505849-chr9:110510284..110512558,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136826	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1880143	chr9:110503765-110503766	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182544948	chr9:110503782-110503783	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs369687821	chr9:110503784-110503785	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs73518922	chr9:110503791-110503792	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs376950916	chr9:110503820-110503821	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs74984749	chr9:110503828-110503829	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs573851848	chr9:110503843-110503844	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs150721592	chr9:110503870-110503871	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531396578	chr9:110503878-110503879	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs562129404	chr9:110503924-110503925	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs529242566	chr9:110503945-110503946	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373226403	chr9:110503969-110503970	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs139375847	chr9:110504028-110504029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs144162841	chr9:110504034-110504035	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs551949280	chr9:110504035-110504036	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs570263599	chr9:110504092-110504093	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs377376105	chr9:110504150-110504151	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs370700651	chr9:110504189-110504190	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs537566785	chr9:110504191-110504192	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs75429255	chr9:110504229-110504230	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs114916906	chr9:110504231-110504232	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs71497810	chr9:110504239-110504240	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187248312	chr9:110504242-110504243	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs554491017	chr9:110504265-110504266	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs572774575	chr9:110504282-110504283	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs146480580	chr9:110504284-110504285	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs558394608	chr9:110504306-110504307	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs191291357	chr9:110504316-110504317	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs543916978	chr9:110504332-110504333	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs944178	chr9:110504358-110504359	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110495800-110504200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr9:110496000-110510800	Weak transcription	Aorta	Aorta
3	chr9:110497200-110506600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr9:110497200-110506800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr9:110497400-110503800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:110497400-110510800	Weak transcription	Psoas Muscle	Psoas
7	chr9:110499400-110504800	Enhancers	Fetal Muscle Trunk	muscle
8	chr9:110499800-110505200	Enhancers	Adipose Nuclei	Adipose
9	chr9:110500000-110504000	Enhancers	Stomach Mucosa	stomach
10	chr9:110500000-110504200	Enhancers	Fetal Muscle Leg	muscle
11	chr9:110500000-110505000	Weak transcription	Spleen	Spleen
12	chr9:110500600-110504000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:110500800-110511600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr9:110501000-110507000	Weak transcription	GM12878-XiMat	blood
15	chr9:110501200-110510600	Weak transcription	Brain Anterior Caudate	brain
16	chr9:110501400-110504000	Enhancers	Hela-S3	cervix
17	chr9:110501400-110504200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:110502200-110504200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr9:110502600-110504800	Weak transcription	Fetal Brain Male	brain
20	chr9:110502600-110511600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:110503000-110504200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:110503000-110504200	Weak transcription	Right Atrium	heart
23	chr9:110503000-110504800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:110503000-110504800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:110503000-110504800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr9:110503000-110504800	Weak transcription	Esophagus	oesophagus
27	chr9:110503000-110510400	Weak transcription	Right Ventricle	heart
28	chr9:110503000-110510600	Weak transcription	Left Ventricle	heart
29	chr9:110503000-110510800	Weak transcription	Placenta	Placenta
30	chr9:110503000-110511400	Weak transcription	NHLF	lung
31	chr9:110503200-110504200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr9:110503200-110504200	Weak transcription	NHEK	skin
33	chr9:110503600-110504000	Weak transcription	Ovary	ovary
34	chr9:110503600-110505200	Enhancers	Fetal Lung	lung
35	chr9:110503800-110504800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr9:110504000-110505600	Enhancers	Ovary	ovary
37	chr9:110504200-110504400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr9:110504200-110504400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr9:110504200-110504600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr9:110504200-110504600	Weak transcription	Fetal Muscle Leg	muscle
41	chr9:110504200-110504800	Enhancers	Right Atrium	heart
42	chr9:110504200-110505200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr9:110504200-110505200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr9:110504200-110505200	Enhancers	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links