Variant report

Variant	nsv1046904
Chromosome Location	chr9:96647940-96689327
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:61)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:96669102..96671238-chr9:96671311..96673716,2	MCF-7	breast:
2	chr9:96651911..96654186-chr9:96654605..96657124,2	MCF-7	breast:
3	chr9:96670566..96673928-chr9:96676412..96679551,4	K562	blood:
4	chr9:96666033..96667879-chr9:96676753..96678543,2	MCF-7	breast:
5	chr9:96652972..96654970-chr9:96657253..96659540,2	MCF-7	breast:
6	chr9:96651911..96654186-chr9:96654605..96657124,2	MCF-7	breast:
7	chr9:96652322..96655527-chr9:96667781..96670779,3	MCF-7	breast:
8	chr9:96672827..96673633-chr9:96725329..96725969,2	K562	blood:
9	chr9:96670566..96673928-chr9:96676412..96679551,4	K562	blood:
10	chr9:96666065..96667806-chr9:96670157..96672697,2	MCF-7	breast:
11	chr9:96666065..96667806-chr9:96670157..96672697,2	MCF-7	breast:
12	chr9:96642929..96644771-chr9:96665466..96667734,2	MCF-7	breast:
13	chr1:233245299..233248254-chr9:96671154..96672728,2	MCF-7	breast:
14	chr9:96655426..96659394-chr9:96661426..96665501,6	MCF-7	breast:
15	chr9:96671241..96673198-chr9:96724070..96726611,2	MCF-7	breast:
16	chr9:96460922..96462912-chr9:96670944..96672850,2	K562	blood:
17	chr9:96671163..96671742-chr9:96725208..96725792,2	MCF-7	breast:
18	chr9:96633328..96633896-chr9:96671075..96671772,2	MCF-7	breast:
19	chr9:96656015..96657684-chr9:96723768..96726547,2	MCF-7	breast:
20	chr9:96659943..96662280-chr9:96662528..96664579,2	K562	blood:
21	chr9:96652322..96655527-chr9:96667781..96670779,3	MCF-7	breast:
22	chr9:96676732..96679654-chr9:96681245..96683320,2	MCF-7	breast:
23	chr9:96673909..96678084-chr9:96678410..96682250,3	K562	blood:
24	chr9:96582571..96583542-chr9:96670824..96672140,6	MCF-7	breast:
25	chr9:96648101..96650436-chr9:96654606..96657253,2	MCF-7	breast:
26	chr9:96665849..96668496-chr9:96668506..96670375,2	K562	blood:
27	chr9:96655426..96659394-chr9:96661426..96665501,6	MCF-7	breast:
28	chr9:96672307..96674659-chr9:96674694..96676957,2	MCF-7	breast:
29	chr9:96674702..96676543-chr9:96724873..96726532,2	K562	blood:
30	chr9:96685373..96688082-chr9:96734506..96736801,2	MCF-7	breast:
31	chr9:96683692..96685555-chr9:96716770..96718550,2	K562	blood:
32	chr9:96671304..96672841-chr9:96674548..96676141,2	MCF-7	breast:
33	chr9:96675737..96678225-chr9:96714280..96716510,2	MCF-7	breast:
34	chr9:96648101..96650436-chr9:96654606..96657253,2	MCF-7	breast:
35	chr9:96678251..96680846-chr9:96690063..96691952,2	MCF-7	breast:
36	chr9:96444213..96445067-chr9:96670972..96672102,3	MCF-7	breast:
37	chr9:96671304..96672841-chr9:96674548..96676141,2	MCF-7	breast:
38	chr9:96685819..96687481-chr9:96698297..96700546,2	MCF-7	breast:
39	chr9:96619287..96621506-chr9:96664361..96666949,2	MCF-7	breast:
40	chr9:96673909..96678084-chr9:96678410..96682250,3	K562	blood:
41	chr9:96676732..96679654-chr9:96681245..96683320,2	MCF-7	breast:
42	chr9:96659943..96662280-chr9:96662528..96664579,2	K562	blood:
43	chr9:96673253..96675820-chr9:96696121..96697775,2	MCF-7	breast:
44	chr9:96621785..96622572-chr9:96671016..96671565,2	MCF-7	breast:
45	chr9:96589596..96590325-chr9:96671569..96672287,2	MCF-7	breast:
46	chr9:96662639..96665282-chr9:96667242..96668877,2	K562	blood:
47	chr9:96665849..96668496-chr9:96668506..96670375,2	K562	blood:
48	chr9:96338791..96340611-chr9:96652934..96654583,2	MCF-7	breast:
49	chr9:96673666..96675915-chr9:96927652..96930442,2	MCF-7	breast:
50	chr9:96444220..96444763-chr9:96671055..96671697,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231990	chromatin interactions
ENSG00000269946	chromatin interactions
ENSG00000197724	chromatin interactions
ENSG00000235601	chromatin interactions
ENSG00000131668	chromatin interactions

Extended variants
information (count: 1566 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1566 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567037202	chr9:96652990-96652991	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs538557303	chr9:96653015-96653016	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs527951492	chr9:96653052-96653053	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs549431491	chr9:96653056-96653057	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs10821253	chr9:96653063-96653064	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs143625784	chr9:96653102-96653103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs539562002	chr9:96653103-96653104	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs10992960	chr9:96653178-96653179	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs571435150	chr9:96653235-96653236	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs10992961	chr9:96653239-96653240	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs376135904	chr9:96653259-96653260	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564056495	chr9:96653278-96653279	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs80074866	chr9:96653279-96653280	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs193031488	chr9:96653281-96653282	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs573869582	chr9:96653325-96653326	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs544463044	chr9:96653361-96653362	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs148060157	chr9:96653391-96653392	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs577845183	chr9:96653402-96653403	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574393874	chr9:96653540-96653541	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544791349	chr9:96653574-96653575	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560065451	chr9:96653618-96653619	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs185620835	chr9:96653682-96653683	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549644085	chr9:96653700-96653701	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs371011393	chr9:96653745-96653746	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs2153062	chr9:96653752-96653753	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs189047956	chr9:96653757-96653758	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs571524568	chr9:96653808-96653809	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538721448	chr9:96653812-96653813	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs192080529	chr9:96653835-96653836	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs577124050	chr9:96653842-96653843	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs566027275	chr9:96653848-96653849	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs536288377	chr9:96653884-96653885	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs61281791	chr9:96653908-96653909	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs11792740	chr9:96653951-96653952	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs538020602	chr9:96654021-96654022	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs184135379	chr9:96654066-96654067	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs72751454	chr9:96654071-96654072	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs545040276	chr9:96654073-96654074	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs539928220	chr9:96654083-96654084	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs34216463	chr9:96654104-96654105	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs572005748	chr9:96654118-96654119	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542288295	chr9:96654147-96654148	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs374897786	chr9:96654153-96654154	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs188389335	chr9:96654240-96654241	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs180919711	chr9:96654255-96654256	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12376257	chr9:96654346-96654347	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs550086238	chr9:96654356-96654357	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs565092951	chr9:96654443-96654444	ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs368895486	chr9:96654445-96654446	ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs185847596	chr9:96654457-96654458	ZNF genes & repeats 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:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96653200-96655000	Enhancers	Stomach Mucosa	stomach
2	chr9:96653400-96654000	Enhancers	Pancreas	Pancrea
3	chr9:96653600-96654000	Enhancers	HepG2	liver
4	chr9:96653600-96654600	Enhancers	Duodenum Mucosa	Duodenum
5	chr9:96654000-96654200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:96654000-96654400	Weak transcription	Pancreas	Pancrea
7	chr9:96654000-96654800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:96654000-96655800	ZNF genes & repeats	HepG2	liver
9	chr9:96654400-96654600	Enhancers	Pancreas	Pancrea
10	chr9:96654600-96654800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
11	chr9:96654600-96655800	Weak transcription	Pancreas	Pancrea
12	chr9:96654800-96656000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr9:96655600-96656000	Enhancers	Stomach Mucosa	stomach
14	chr9:96655600-96657000	Enhancers	Liver	Liver
15	chr9:96655800-96656800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr9:96655800-96656800	Flanking Active TSS	HepG2	liver
17	chr9:96655800-96657200	Enhancers	Duodenum Mucosa	Duodenum
18	chr9:96655800-96657200	Enhancers	Fetal Intestine Small	intestine
19	chr9:96655800-96658800	Enhancers	Pancreas	Pancrea
20	chr9:96656000-96656200	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr9:96656000-96656200	Enhancers	Stomach Smooth Muscle	stomach
22	chr9:96656000-96656400	Flanking Active TSS	Stomach Mucosa	stomach
23	chr9:96656000-96656800	Enhancers	Colonic Mucosa	Colon
24	chr9:96656000-96657000	Enhancers	Fetal Intestine Large	intestine
25	chr9:96656200-96656400	Bivalent Enhancer	Fetal Stomach	stomach
26	chr9:96656200-96656600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr9:96656200-96656600	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr9:96656200-96656600	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr9:96656200-96657200	Enhancers	Gastric	stomach
30	chr9:96656400-96657000	Enhancers	Fetal Stomach	stomach
31	chr9:96656400-96657800	Enhancers	Stomach Mucosa	stomach
32	chr9:96656600-96656800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr9:96656600-96656800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr9:96656600-96656800	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr9:96656600-96656800	Enhancers	Stomach Smooth Muscle	stomach
36	chr9:96656800-96657600	Enhancers	HepG2	liver
37	chr9:96656800-96660600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr9:96657600-96657800	Bivalent Enhancer	HepG2	liver
39	chr9:96657600-96658000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr9:96657800-96660000	Weak transcription	Stomach Mucosa	stomach
41	chr9:96658600-96661600	Enhancers	Primary T cells fromperipheralblood	blood
42	chr9:96658600-96661600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr9:96659000-96660000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr9:96659000-96661400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr9:96659000-96661600	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr9:96659000-96661600	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr9:96659200-96661200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr9:96659200-96661400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr9:96659400-96661200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr9:96659600-96660400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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