Variant report

Variant	nsv6644
Chromosome Location	chr9:104706002-104744693
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:104554048..104554859-chr9:104734774..104735456,4	MCF-7	breast:
2	chr9:104707981..104710743-chr9:104711149..104712879,2	K562	blood:
3	chr9:104733654..104735932-chr9:104741852..104744249,2	K562	blood:
4	chr9:104712078..104714404-chr9:104717443..104718985,2	K562	blood:
5	chr9:104736126..104738310-chr9:104738745..104740994,2	K562	blood:
6	chr9:104707981..104710743-chr9:104711149..104712879,2	K562	blood:
7	chr9:104733654..104735932-chr9:104741852..104744249,2	K562	blood:
8	chr9:104703090..104705673-chr9:104707089..104708983,2	MCF-7	breast:
9	chr9:104719927..104722291-chr9:104723715..104725489,2	K562	blood:
10	chr9:104736126..104738310-chr9:104738745..104740994,2	K562	blood:
11	chr9:104719927..104722291-chr9:104723715..104725489,2	K562	blood:
12	chr9:104712078..104714404-chr9:104717443..104718985,2	K562	blood:

No data

Extended variants
information (count: 282 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542836944	chr9:104728400-104728401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370833527	chr9:104728401-104728402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576941635	chr9:104728414-104728415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539355997	chr9:104728442-104728443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552810034	chr9:104728449-104728450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76947553	chr9:104728478-104728479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142156743	chr9:104728482-104728483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572793701	chr9:104728510-104728511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571598065	chr9:104728534-104728535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541077268	chr9:104728548-104728549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77764846	chr9:104728568-104728569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142593079	chr9:104728616-104728617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543861016	chr9:104728618-104728619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191962193	chr9:104728635-104728636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532690439	chr9:104728660-104728661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs58660142	chr9:104728679-104728680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146006384	chr9:104728761-104728762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539710418	chr9:104728776-104728777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557799410	chr9:104728812-104728813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373097971	chr9:104728837-104728838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543234225	chr9:104728867-104728868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1007468	chr9:104728905-104728906	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
23	rs528791927	chr9:104728918-104728919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548241778	chr9:104728960-104728961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141864267	chr9:104728970-104728971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184222377	chr9:104729000-104729001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550605525	chr9:104729032-104729033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144201965	chr9:104729077-104729078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539662472	chr9:104729134-104729135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552748710	chr9:104729161-104729162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148730495	chr9:104729220-104729221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370958722	chr9:104729221-104729222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535345422	chr9:104729256-104729257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10989732	chr9:104729280-104729281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371579284	chr9:104729294-104729295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142332518	chr9:104729295-104729296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371940547	chr9:104729310-104729311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112006374	chr9:104729322-104729323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561461803	chr9:104729324-104729325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574745375	chr9:104729326-104729327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188327511	chr9:104729361-104729362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557384397	chr9:104729437-104729438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577255839	chr9:104729464-104729465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191954909	chr9:104729518-104729519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540918495	chr9:104729531-104729532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114693009	chr9:104729539-104729540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542513784	chr9:104729554-104729555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182820678	chr9:104729558-104729559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139345948	chr9:104729565-104729566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74393882	chr9:104729572-104729573	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
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104728400-104729400	Enhancers	Fetal Heart	heart
2	chr9:104729200-104729800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr9:104729200-104729800	Enhancers	Fetal Muscle Leg	muscle
4	chr9:104738200-104739200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:104739600-104739800	Enhancers	Fetal Heart	heart
6	chr9:104739800-104740400	Weak transcription	Fetal Heart	heart
7	chr9:104740200-104740800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:104740400-104740600	Enhancers	Fetal Heart	heart
9	chr9:104740600-104742800	Weak transcription	Fetal Heart	heart
10	chr9:104742800-104744200	Enhancers	Fetal Heart	heart
11	chr9:104743000-104743800	Enhancers	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links