Variant report

Variant	nsv520193
Chromosome Location	chr9:102037970-102039043
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	chr9:102037007..102039239-chr9:102065657..102068204,2	K562	blood:

Variant related genes	Relation type
ENSG00000255815	chromatin interactions

Extended variants
information (count: 53 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10819643	chr9:102037970-102037971	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs528999215	chr9:102037981-102037982	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs149246707	chr9:102037984-102037985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs568838729	chr9:102038096-102038097	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs180938219	chr9:102038117-102038118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs79509789	chr9:102038136-102038137	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs185982737	chr9:102038196-102038197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs573124540	chr9:102038225-102038226	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs533817188	chr9:102038245-102038246	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs553575137	chr9:102038293-102038294	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs162614	chr9:102038368-102038369	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs567973350	chr9:102038371-102038372	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs191205579	chr9:102038408-102038409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556427709	chr9:102038424-102038425	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs145195195	chr9:102038428-102038429	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs138503350	chr9:102038460-102038461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs370015933	chr9:102038485-102038486	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs572797451	chr9:102038488-102038489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs143052649	chr9:102038489-102038490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs183117832	chr9:102038510-102038511	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs571705162	chr9:102038525-102038526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs539116113	chr9:102038527-102038528	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs574117131	chr9:102038536-102038537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs557223053	chr9:102038545-102038546	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs185658384	chr9:102038565-102038566	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs543261968	chr9:102038572-102038573	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs11999201	chr9:102038583-102038584	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs570884133	chr9:102038588-102038589	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs146134326	chr9:102038597-102038598	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs542040350	chr9:102038601-102038602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547251304	chr9:102038603-102038604	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs567546567	chr9:102038624-102038625	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs373956942	chr9:102038649-102038650	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs162613	chr9:102038653-102038654	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs556306638	chr9:102038654-102038655	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs182946640	chr9:102038659-102038660	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs539105722	chr9:102038683-102038684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559006782	chr9:102038684-102038685	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs188018473	chr9:102038690-102038691	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs541749643	chr9:102038719-102038720	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs79797334	chr9:102038728-102038729	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs561473099	chr9:102038738-102038739	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs372591067	chr9:102038741-102038742	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs59801821	chr9:102038742-102038743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs537723194	chr9:102038746-102038747	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs563885882	chr9:102038762-102038763	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531329864	chr9:102038785-102038786	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs573621840	chr9:102038835-102038836	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs564551286	chr9:102038869-102038870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs527248866	chr9:102038892-102038893	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102022200-102038000	Weak transcription	Aorta	Aorta
2	chr9:102036800-102039800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links