Variant report

Variant	nsv519449
Chromosome Location	chr9:96382100-96395429
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:96381800..96384732-chr9:96385534..96387472,3	MCF-7	breast:
2	chr9:96385198..96387004-chr9:96393310..96394874,2	MCF-7	breast:
3	chr9:96394612..96397512-chr9:96407900..96409512,2	MCF-7	breast:
4	chr9:96379107..96381453-chr9:96385591..96387233,2	MCF-7	breast:
5	chr9:96338100..96342684-chr9:96381746..96385734,6	MCF-7	breast:
6	chr9:96374097..96376355-chr9:96382214..96384351,2	K562	blood:
7	chr9:96382620..96384260-chr9:96389901..96392114,2	MCF-7	breast:
8	chr9:96371713..96374026-chr9:96382749..96385685,2	K562	blood:
9	chr9:96394493..96396202-chr9:96397169..96399120,2	MCF-7	breast:
10	chr9:96382620..96384260-chr9:96389901..96392114,2	MCF-7	breast:
11	chr9:96389762..96391845-chr9:96392211..96394395,2	K562	blood:
12	chr9:96389762..96391845-chr9:96392211..96394395,2	K562	blood:
13	chr9:96346772..96349327-chr9:96380904..96383527,2	MCF-7	breast:
14	chr9:96393648..96395801-chr9:96402500..96404793,2	MCF-7	breast:
15	chr9:96381800..96384732-chr9:96385534..96387472,3	MCF-7	breast:
16	chr9:96382332..96382997-chr9:96442806..96443414,2	MCF-7	breast:
17	chr9:96338187..96341203-chr9:96391174..96393981,3	MCF-7	breast:
18	chr9:96391831..96394155-chr9:96413684..96415869,2	K562	blood:
19	chr9:96385198..96387004-chr9:96393310..96394874,2	MCF-7	breast:
20	chr9:96391172..96393560-chr9:96396943..96399376,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197724	chromatin interactions

Extended variants
information (count: 594 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7033146	chr9:96382100-96382101	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs374766927	chr9:96382112-96382113	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372231592	chr9:96382151-96382152	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs150060427	chr9:96382158-96382159	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568856905	chr9:96382160-96382161	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs539041052	chr9:96382219-96382220	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs557465625	chr9:96382234-96382235	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572595295	chr9:96382236-96382237	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs375097440	chr9:96382237-96382238	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs145215516	chr9:96382291-96382292	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs555545344	chr9:96382298-96382299	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs7033439	chr9:96382336-96382337	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
13	rs118143494	chr9:96382352-96382353	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375426160	chr9:96382361-96382362	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs572181952	chr9:96382403-96382404	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs563015998	chr9:96382407-96382408	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs7018588	chr9:96382449-96382450	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs545408491	chr9:96382459-96382460	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs181214991	chr9:96382460-96382461	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs185343785	chr9:96382476-96382477	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs549455939	chr9:96382481-96382482	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs113788394	chr9:96382501-96382502	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs529049084	chr9:96382518-96382519	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs71496445	chr9:96382579-96382580	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs537349791	chr9:96382607-96382608	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs189655074	chr9:96382608-96382609	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs556075127	chr9:96382626-96382627	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs550959773	chr9:96382653-96382654	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs73522232	chr9:96382698-96382699	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535468196	chr9:96382699-96382700	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs183452643	chr9:96382701-96382702	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs189201065	chr9:96382724-96382725	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12552085	chr9:96382729-96382730	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575523980	chr9:96382736-96382737	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs141171592	chr9:96382748-96382749	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs73651297	chr9:96382761-96382762	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs116760464	chr9:96382766-96382767	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs554215894	chr9:96382801-96382802	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs145067070	chr9:96382836-96382837	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs537956739	chr9:96382841-96382842	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs571831399	chr9:96382845-96382846	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs543165143	chr9:96382850-96382851	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs114765798	chr9:96382851-96382852	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs144986510	chr9:96382856-96382857	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs73651298	chr9:96382867-96382868	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs529120586	chr9:96382868-96382869	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs191903282	chr9:96382874-96382875	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs199658512	chr9:96382886-96382887	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs562848602	chr9:96382896-96382897	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs61471428	chr9:96382906-96382907	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:73)

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
Bipolar disorder	18458673	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
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:445 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96352400-96384600	Weak transcription	NHLF	lung
2	chr9:96363200-96392000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr9:96363600-96383600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr9:96366600-96386600	Weak transcription	Fetal Heart	heart
5	chr9:96372800-96392000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr9:96373400-96386200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:96373400-96387000	Weak transcription	Fetal Brain Female	brain
8	chr9:96373400-96390000	Weak transcription	Primary B cells from cord blood	blood
9	chr9:96374600-96399800	Weak transcription	K562	blood
10	chr9:96374800-96385400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr9:96375000-96382400	Weak transcription	Liver	Liver
12	chr9:96375000-96382600	Weak transcription	Hela-S3	cervix
13	chr9:96375200-96383200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr9:96375200-96383200	Weak transcription	Stomach Mucosa	stomach
15	chr9:96375200-96383800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr9:96375200-96391800	Weak transcription	Colonic Mucosa	Colon
17	chr9:96375400-96385800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr9:96375600-96382800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr9:96375600-96383000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr9:96375600-96383200	Weak transcription	Brain Angular Gyrus	brain
21	chr9:96375600-96383600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr9:96375600-96383800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr9:96375600-96390000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr9:96375800-96383400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr9:96375800-96386200	Weak transcription	Dnd41	blood
26	chr9:96375800-96390000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr9:96376200-96393000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:96376400-96390000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr9:96376600-96390000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr9:96376800-96383400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr9:96377000-96382200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr9:96377000-96382400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr9:96377200-96382200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr9:96377200-96389200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr9:96377800-96386600	Weak transcription	Fetal Kidney	kidney
36	chr9:96379200-96382200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr9:96379400-96382600	Strong transcription	Fetal Intestine Small	intestine
38	chr9:96379400-96385800	Enhancers	Right Atrium	heart
39	chr9:96379600-96382600	Weak transcription	Brain Anterior Caudate	brain
40	chr9:96379600-96382600	Weak transcription	Brain Hippocampus Middle	brain
41	chr9:96379600-96383600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr9:96379600-96390000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr9:96379600-96390000	Weak transcription	Aorta	Aorta
44	chr9:96379800-96382200	Weak transcription	Brain Substantia Nigra	brain
45	chr9:96379800-96382200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr9:96379800-96383000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr9:96379800-96383000	Weak transcription	Placenta	Placenta
48	chr9:96379800-96385000	Strong transcription	Fetal Stomach	stomach
49	chr9:96379800-96385600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr9:96379800-96391800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links