Variant report

Variant	nsv527165
Chromosome Location	chr9:102194921-102214169
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:102199715..102203075-chr9:102205928..102208429,4	MCF-7	breast:
2	chr1:149223188..149225397-chr9:102200089..102202544,2	MCF-7	breast:
3	chr9:102196130..102198147-chr9:102198447..102200245,2	K562	blood:
4	chr9:102196130..102198147-chr9:102198447..102200245,2	K562	blood:
5	chr9:102199715..102203075-chr9:102205928..102208429,4	MCF-7	breast:
6	chr9:102189382..102190948-chr9:102193219..102195799,2	K562	blood:
7	chr9:102196130..102198135-chr9:102198447..102201334,2	K562	blood:
8	chr9:102196130..102198135-chr9:102198447..102201334,2	K562	blood:
9	chr9:102183276..102185319-chr9:102193925..102196644,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000206737	chromatin interactions

Extended variants
information (count: 697 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:697 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7858078	chr9:102194921-102194922	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545832178	chr9:102194938-102194939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559693461	chr9:102195004-102195005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542669925	chr9:102195007-102195008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548822236	chr9:102195022-102195023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185615998	chr9:102195047-102195048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189202199	chr9:102195058-102195059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142698284	chr9:102195065-102195066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150997053	chr9:102195094-102195095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181487638	chr9:102195103-102195104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551932318	chr9:102195134-102195135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555535942	chr9:102195169-102195170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565624907	chr9:102195188-102195189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370702828	chr9:102195213-102195214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140554060	chr9:102195219-102195220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534625793	chr9:102195234-102195235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186509929	chr9:102195235-102195236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574315940	chr9:102195237-102195238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114206786	chr9:102195242-102195243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556727139	chr9:102195322-102195323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552583172	chr9:102195360-102195361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144397922	chr9:102195376-102195377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559494918	chr9:102195431-102195432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573156500	chr9:102195485-102195486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542179904	chr9:102195511-102195512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562364992	chr9:102195513-102195514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs586563	chr9:102195533-102195534	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs531216619	chr9:102195535-102195536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551238487	chr9:102195547-102195548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147806583	chr9:102195566-102195567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141213627	chr9:102195584-102195585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150314645	chr9:102195592-102195593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144904732	chr9:102195598-102195599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565558711	chr9:102195623-102195624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79689315	chr9:102195630-102195631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192102856	chr9:102195664-102195665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182613616	chr9:102195706-102195707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149020709	chr9:102195740-102195741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78355180	chr9:102195823-102195824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186246469	chr9:102195873-102195874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535191211	chr9:102195891-102195892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539564815	chr9:102195919-102195920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553402707	chr9:102195920-102195921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117480795	chr9:102195976-102195977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190780499	chr9:102195992-102195993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562054986	chr9:102196019-102196020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183390820	chr9:102196039-102196040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543812687	chr9:102196055-102196056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186958285	chr9:102196062-102196063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564680797	chr9:102196084-102196085	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Melanoma	18172304	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
Acute myeloid leukemia	21251322	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
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:217 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102192200-102197600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:102192800-102195600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr9:102192800-102195800	Weak transcription	Lung	lung
4	chr9:102193200-102195400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:102193200-102195400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:102193200-102195600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr9:102193200-102195600	Weak transcription	Spleen	Spleen
8	chr9:102193200-102195800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr9:102193400-102195400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr9:102193400-102197800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr9:102193600-102195800	Weak transcription	Osteobl	bone
12	chr9:102194000-102195600	Weak transcription	NH-A	brain
13	chr9:102194000-102195600	Weak transcription	NHEK	skin
14	chr9:102194200-102195400	Weak transcription	NHDF-Ad	bronchial
15	chr9:102194200-102199800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:102194400-102195200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:102194400-102195600	Weak transcription	Fetal Heart	heart
18	chr9:102194400-102195600	Weak transcription	NHLF	lung
19	chr9:102194600-102195000	Weak transcription	HUVEC	blood vessel
20	chr9:102194600-102195600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:102195000-102196600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr9:102195000-102196800	Enhancers	HUVEC	blood vessel
23	chr9:102195200-102196800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr9:102195200-102196800	Enhancers	GM12878-XiMat	blood
25	chr9:102195200-102197000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr9:102195400-102196400	Enhancers	A549	lung
27	chr9:102195400-102196600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr9:102195400-102196600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr9:102195400-102196800	Enhancers	Hela-S3	cervix
30	chr9:102195400-102197000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr9:102195400-102197000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr9:102195400-102202800	Enhancers	NHDF-Ad	bronchial
33	chr9:102195600-102195800	Enhancers	Fetal Heart	heart
34	chr9:102195600-102196000	Enhancers	Spleen	Spleen
35	chr9:102195600-102196400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr9:102195600-102196400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr9:102195600-102196400	Enhancers	HepG2	liver
38	chr9:102195600-102196600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr9:102195600-102196600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr9:102195600-102196600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr9:102195600-102196600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr9:102195600-102196800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr9:102195600-102197000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr9:102195600-102197000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:102195600-102197000	Enhancers	HMEC	breast
46	chr9:102195600-102197000	Enhancers	NH-A	brain
47	chr9:102195600-102197000	Enhancers	NHEK	skin
48	chr9:102195600-102197800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr9:102195600-102197800	Enhancers	NHLF	lung
50	chr9:102195800-102196200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links