Variant report

Variant	nsv982595
Chromosome Location	chr9:95551536-95561640
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:24)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:95548519..95551423-chr9:95551697..95555504,3	K562	blood:
2	chr9:95262989..95265065-chr9:95551736..95554056,2	MCF-7	breast:
3	chr9:95492835..95493383-chr9:95554018..95554646,2	MCF-7	breast:
4	chr9:95488503..95490523-chr9:95550611..95553154,2	MCF-7	breast:
5	chr9:95478352..95479462-chr9:95552797..95553644,12	MCF-7	breast:
6	chr3:12527533..12529620-chr9:95554270..95556592,2	MCF-7	breast:
7	chr9:95492816..95493350-chr9:95552665..95553289,2	MCF-7	breast:
8	chr9:95491803..95492319-chr9:95552914..95553715,2	K562	blood:
9	chr9:95478553..95479822-chr9:95552363..95553622,4	MCF-7	breast:
10	chr9:95525963..95527643-chr9:95559825..95562774,2	K562	blood:
11	chr9:95477589..95479745-chr9:95552939..95554698,2	K562	blood:
12	chr9:95396768..95397383-chr9:95553101..95553742,3	MCF-7	breast:
13	chr9:95490823..95492381-chr9:95552762..95553676,10	MCF-7	breast:
14	chr9:95431446..95434360-chr9:95553227..95554835,2	K562	blood:
15	chr9:95525165..95529310-chr9:95549740..95553522,8	MCF-7	breast:
16	chr9:95548536..95551423-chr9:95551697..95554622,2	K562	blood:
17	chr9:95468666..95469181-chr9:95552767..95553736,2	K562	blood:
18	chr9:95527646..95528237-chr9:95552638..95553621,3	MCF-7	breast:
19	chr9:95478498..95479642-chr9:95552743..95553782,10	K562	blood:
20	chr9:95490525..95493250-chr9:95553271..95556888,4	MCF-7	breast:
21	chr9:95478444..95479282-chr9:95553871..95554503,2	MCF-7	breast:
22	chr9:95471876..95472624-chr9:95552927..95553706,2	K562	blood:
23	chr9:95527342..95528787-chr9:95552714..95553684,7	K562	blood:
24	chr9:95491449..95492380-chr9:95552807..95553737,7	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FGD3-1	chr9:95555561-95555589	XLOC_007463
2	lnc-FGD3-1	chr9:95557946-95558054	XLOC_007463
3	lnc-FGD3-1	chr9:95559359-95559556	XLOC_007463

No data

Variant related genes	Relation type
ENSG00000185963	chromatin interactions
ENSG00000127080	chromatin interactions

Extended variants
information (count: 415 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576320864	chr9:95551595-95551596	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs10992469	chr9:95551617-95551618	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs7875225	chr9:95551720-95551721	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs191597197	chr9:95551754-95551755	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545111016	chr9:95551773-95551774	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs182571210	chr9:95551784-95551785	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs2181585	chr9:95551830-95551831	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs546834983	chr9:95551837-95551838	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs542633046	chr9:95551880-95551881	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs1555574	chr9:95551951-95551952	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs531641922	chr9:95551971-95551972	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs187702699	chr9:95551991-95551992	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571437550	chr9:95552006-95552007	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs532182547	chr9:95552008-95552009	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547898646	chr9:95552029-95552030	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs192372484	chr9:95552030-95552031	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs143432489	chr9:95552088-95552089	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs77005980	chr9:95552109-95552110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138825480	chr9:95552140-95552141	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs569673014	chr9:95552198-95552199	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs77980105	chr9:95552217-95552218	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs559346926	chr9:95552218-95552219	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs184592368	chr9:95552246-95552247	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs140770522	chr9:95552247-95552248	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200143195	chr9:95552251-95552252	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs534888441	chr9:95552286-95552287	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs187857266	chr9:95552292-95552293	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs549387837	chr9:95552294-95552295	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs150125603	chr9:95552304-95552305	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs545406443	chr9:95552311-95552312	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs7863741	chr9:95552379-95552380	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs560879113	chr9:95552405-95552406	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs201182452	chr9:95552432-95552433	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs10117377	chr9:95552437-95552438	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs543725207	chr9:95552439-95552440	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs141011118	chr9:95552448-95552449	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs56378649	chr9:95552449-95552450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs565015038	chr9:95552450-95552451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs567043803	chr9:95552460-95552461	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs532371474	chr9:95552472-95552473	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs549177758	chr9:95552524-95552525	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs547266674	chr9:95552534-95552535	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs184472645	chr9:95552554-95552555	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs10739929	chr9:95552578-95552579	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs548241206	chr9:95552579-95552580	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs145803505	chr9:95552590-95552591	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs528627658	chr9:95552613-95552614	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs369097029	chr9:95552693-95552694	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs552865101	chr9:95552725-95552726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571045312	chr9:95552747-95552748	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
overgrowth syndrome	16570072	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95541400-95558600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:95546000-95553000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:95546000-95553000	Weak transcription	NHEK	skin
4	chr9:95551800-95552000	Enhancers	HepG2	liver
5	chr9:95552000-95553600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr9:95552800-95553200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr9:95552800-95553200	Enhancers	HepG2	liver
8	chr9:95552800-95553600	Enhancers	Liver	Liver
9	chr9:95553000-95553200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr9:95553000-95553200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:95553000-95553200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:95553000-95553200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:95553000-95553200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:95553000-95553200	Enhancers	Adipose Nuclei	Adipose
15	chr9:95553000-95553200	Enhancers	Brain Anterior Caudate	brain
16	chr9:95553000-95553200	Active TSS	Brain Substantia Nigra	brain
17	chr9:95553000-95553200	Enhancers	Fetal Heart	heart
18	chr9:95553000-95553200	Enhancers	Stomach Mucosa	stomach
19	chr9:95553000-95553200	Flanking Active TSS	Hela-S3	cervix
20	chr9:95553000-95553200	Flanking Active TSS	Osteobl	bone
21	chr9:95553000-95553400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:95553000-95553400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr9:95553000-95553400	Enhancers	Primary T cells from cord blood	blood
24	chr9:95553000-95553400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr9:95553000-95553400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr9:95553000-95553400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr9:95553000-95553400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:95553000-95553400	Enhancers	Brain Angular Gyrus	brain
29	chr9:95553000-95553400	Active TSS	Brain Hippocampus Middle	brain
30	chr9:95553000-95553400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr9:95553000-95553400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr9:95553000-95553400	Enhancers	NHEK	skin
33	chr9:95553000-95553600	Enhancers	Primary B cells from peripheral blood	blood
34	chr9:95553000-95553600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr9:95553000-95553600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr9:95553000-95553600	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr9:95553000-95553600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr9:95553000-95553600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr9:95553000-95553600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr9:95553000-95553600	Enhancers	Brain Cingulate Gyrus	brain
41	chr9:95553000-95553600	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr9:95553000-95553600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr9:95553000-95553600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr9:95553000-95553600	Enhancers	Dnd41	blood
45	chr9:95553000-95553600	Enhancers	HMEC	breast
46	chr9:95553200-95553400	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr9:95553200-95553400	Enhancers	GM12878-XiMat	blood
48	chr9:95553200-95553600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:95553200-95553600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr9:95553200-95553600	Enhancers	Primary T helper cells PMA-I stimulated	--

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