Variant report

Variant	nsv1053137
Chromosome Location	chr9:96644876-96683214
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:56)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:96673909..96678084-chr9:96678410..96682250,3	K562	blood:
2	chr1:233245299..233248254-chr9:96671154..96672728,2	MCF-7	breast:
3	chr9:96673909..96678084-chr9:96678410..96682250,3	K562	blood:
4	chr9:96662639..96665282-chr9:96667242..96668877,2	K562	blood:
5	chr9:96656015..96657684-chr9:96723768..96726547,2	MCF-7	breast:
6	chr9:96673253..96675820-chr9:96696121..96697775,2	MCF-7	breast:
7	chr9:96670566..96673928-chr9:96676412..96679551,4	K562	blood:
8	chr9:96671163..96671742-chr9:96725208..96725792,2	MCF-7	breast:
9	chr9:96655426..96659394-chr9:96661426..96665501,6	MCF-7	breast:
10	chr9:96672307..96674659-chr9:96674694..96676957,2	MCF-7	breast:
11	chr9:96444213..96445067-chr9:96670972..96672102,3	MCF-7	breast:
12	chr9:96669941..96671466-chr9:96672760..96674877,2	K562	blood:
13	chr9:96676732..96679654-chr9:96681245..96683320,2	MCF-7	breast:
14	chr9:96674702..96676543-chr9:96724873..96726532,2	K562	blood:
15	chr9:96659943..96662280-chr9:96662528..96664579,2	K562	blood:
16	chr9:96651911..96654186-chr9:96654605..96657124,2	MCF-7	breast:
17	chr9:96652322..96655527-chr9:96667781..96670779,3	MCF-7	breast:
18	chr9:96460922..96462912-chr9:96670944..96672850,2	K562	blood:
19	chr9:96678251..96680846-chr9:96690063..96691952,2	MCF-7	breast:
20	chr9:96621785..96622572-chr9:96671016..96671565,2	MCF-7	breast:
21	chr9:96671241..96673198-chr9:96724070..96726611,2	MCF-7	breast:
22	chr9:96672827..96673633-chr9:96725329..96725969,2	K562	blood:
23	chr9:96662639..96665282-chr9:96667242..96668877,2	K562	blood:
24	chr9:96675737..96678225-chr9:96714280..96716510,2	MCF-7	breast:
25	chr9:96648101..96650436-chr9:96654606..96657253,2	MCF-7	breast:
26	chr9:96671304..96672841-chr9:96674548..96676141,2	MCF-7	breast:
27	chr9:96642929..96644771-chr9:96665466..96667734,2	MCF-7	breast:
28	chr9:96666065..96667806-chr9:96670157..96672697,2	MCF-7	breast:
29	chr9:96676732..96679654-chr9:96681245..96683320,2	MCF-7	breast:
30	chr9:96664499..96666537-chr9:96711318..96713769,2	MCF-7	breast:
31	chr9:96665849..96668496-chr9:96668506..96670375,2	K562	blood:
32	chr9:96673666..96675915-chr9:96927652..96930442,2	MCF-7	breast:
33	chr9:96444220..96444763-chr9:96671055..96671697,2	MCF-7	breast:
34	chr9:96652322..96655527-chr9:96667781..96670779,3	MCF-7	breast:
35	chr9:96655426..96659394-chr9:96661426..96665501,6	MCF-7	breast:
36	chr9:96652972..96654970-chr9:96657253..96659540,2	MCF-7	breast:
37	chr9:96666033..96667879-chr9:96676753..96678543,2	MCF-7	breast:
38	chr9:96652972..96654970-chr9:96657253..96659540,2	MCF-7	breast:
39	chr9:96589596..96590325-chr9:96671569..96672287,2	MCF-7	breast:
40	chr9:96669941..96671466-chr9:96672760..96674877,2	K562	blood:
41	chr9:96582571..96583542-chr9:96670824..96672140,6	MCF-7	breast:
42	chr9:96669102..96671238-chr9:96671311..96673716,2	MCF-7	breast:
43	chr9:96671304..96672841-chr9:96674548..96676141,2	MCF-7	breast:
44	chr9:96669102..96671238-chr9:96671311..96673716,2	MCF-7	breast:
45	chr9:96659943..96662280-chr9:96662528..96664579,2	K562	blood:
46	chr9:96651911..96654186-chr9:96654605..96657124,2	MCF-7	breast:
47	chr9:96447514..96448042-chr9:96670972..96671488,2	MCF-7	breast:
48	chr9:96619287..96621506-chr9:96664361..96666949,2	MCF-7	breast:
49	chr9:96338791..96340611-chr9:96652934..96654583,2	MCF-7	breast:
50	chr9:96648101..96650436-chr9:96654606..96657253,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000131668	chromatin interactions
ENSG00000231990	chromatin interactions
ENSG00000197724	chromatin interactions
ENSG00000269946	chromatin interactions

Extended variants
information (count: 1317 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1317 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10992954	chr9:96647025-96647026	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149987678	chr9:96647073-96647074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186588740	chr9:96647107-96647108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528407966	chr9:96647121-96647122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190981715	chr9:96647174-96647175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568900406	chr9:96647186-96647187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561705010	chr9:96647187-96647188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114050112	chr9:96647202-96647203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372515680	chr9:96647207-96647208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550365216	chr9:96647242-96647243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75360725	chr9:96647262-96647263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs180922426	chr9:96647286-96647287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs55966718	chr9:96647308-96647309	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs567155235	chr9:96647319-96647320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534457839	chr9:96647364-96647365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556044052	chr9:96647428-96647429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10761297	chr9:96647433-96647434	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs146621508	chr9:96647439-96647440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556380909	chr9:96647461-96647462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577745243	chr9:96647487-96647488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544988310	chr9:96647514-96647515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560084843	chr9:96647561-96647562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111458789	chr9:96647580-96647581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572130253	chr9:96647582-96647583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567037202	chr9:96652990-96652991	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs538557303	chr9:96653015-96653016	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs527951492	chr9:96653052-96653053	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs549431491	chr9:96653056-96653057	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs10821253	chr9:96653063-96653064	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs143625784	chr9:96653102-96653103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs539562002	chr9:96653103-96653104	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs10992960	chr9:96653178-96653179	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs571435150	chr9:96653235-96653236	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs10992961	chr9:96653239-96653240	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs376135904	chr9:96653259-96653260	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs564056495	chr9:96653278-96653279	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs80074866	chr9:96653279-96653280	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs193031488	chr9:96653281-96653282	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs573869582	chr9:96653325-96653326	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs544463044	chr9:96653361-96653362	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs148060157	chr9:96653391-96653392	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs577845183	chr9:96653402-96653403	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs574393874	chr9:96653540-96653541	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs544791349	chr9:96653574-96653575	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs560065451	chr9:96653618-96653619	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs185620835	chr9:96653682-96653683	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs549644085	chr9:96653700-96653701	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs371011393	chr9:96653745-96653746	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs2153062	chr9:96653752-96653753	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs189047956	chr9:96653757-96653758	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Breast cancer	22522925	CNVD
Effusion lymphoma	18079361	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96647000-96647600	Enhancers	Stomach Mucosa	stomach
2	chr9:96653200-96655000	Enhancers	Stomach Mucosa	stomach
3	chr9:96653400-96654000	Enhancers	Pancreas	Pancrea
4	chr9:96653600-96654000	Enhancers	HepG2	liver
5	chr9:96653600-96654600	Enhancers	Duodenum Mucosa	Duodenum
6	chr9:96654000-96654200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:96654000-96654400	Weak transcription	Pancreas	Pancrea
8	chr9:96654000-96654800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:96654000-96655800	ZNF genes & repeats	HepG2	liver
10	chr9:96654400-96654600	Enhancers	Pancreas	Pancrea
11	chr9:96654600-96654800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
12	chr9:96654600-96655800	Weak transcription	Pancreas	Pancrea
13	chr9:96654800-96656000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr9:96655600-96656000	Enhancers	Stomach Mucosa	stomach
15	chr9:96655600-96657000	Enhancers	Liver	Liver
16	chr9:96655800-96656800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr9:96655800-96656800	Flanking Active TSS	HepG2	liver
18	chr9:96655800-96657200	Enhancers	Duodenum Mucosa	Duodenum
19	chr9:96655800-96657200	Enhancers	Fetal Intestine Small	intestine
20	chr9:96655800-96658800	Enhancers	Pancreas	Pancrea
21	chr9:96656000-96656200	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr9:96656000-96656200	Enhancers	Stomach Smooth Muscle	stomach
23	chr9:96656000-96656400	Flanking Active TSS	Stomach Mucosa	stomach
24	chr9:96656000-96656800	Enhancers	Colonic Mucosa	Colon
25	chr9:96656000-96657000	Enhancers	Fetal Intestine Large	intestine
26	chr9:96656200-96656400	Bivalent Enhancer	Fetal Stomach	stomach
27	chr9:96656200-96656600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr9:96656200-96656600	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr9:96656200-96656600	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr9:96656200-96657200	Enhancers	Gastric	stomach
31	chr9:96656400-96657000	Enhancers	Fetal Stomach	stomach
32	chr9:96656400-96657800	Enhancers	Stomach Mucosa	stomach
33	chr9:96656600-96656800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr9:96656600-96656800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr9:96656600-96656800	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr9:96656600-96656800	Enhancers	Stomach Smooth Muscle	stomach
37	chr9:96656800-96657600	Enhancers	HepG2	liver
38	chr9:96656800-96660600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr9:96657600-96657800	Bivalent Enhancer	HepG2	liver
40	chr9:96657600-96658000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr9:96657800-96660000	Weak transcription	Stomach Mucosa	stomach
42	chr9:96658600-96661600	Enhancers	Primary T cells fromperipheralblood	blood
43	chr9:96658600-96661600	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr9:96659000-96660000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr9:96659000-96661400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr9:96659000-96661600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr9:96659000-96661600	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr9:96659200-96661200	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr9:96659200-96661400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr9:96659400-96661200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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