Variant report

Variant	nsv1042043
Chromosome Location	chr9:96657324-96689327
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:54)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:96672307..96674659-chr9:96674694..96676957,2	MCF-7	breast:
2	chr9:96669941..96671466-chr9:96672760..96674877,2	K562	blood:
3	chr9:96662639..96665282-chr9:96667242..96668877,2	K562	blood:
4	chr9:96664499..96666537-chr9:96711318..96713769,2	MCF-7	breast:
5	chr9:96589596..96590325-chr9:96671569..96672287,2	MCF-7	breast:
6	chr9:96659943..96662280-chr9:96662528..96664579,2	K562	blood:
7	chr9:96685819..96687481-chr9:96698297..96700546,2	MCF-7	breast:
8	chr9:96633328..96633896-chr9:96671075..96671772,2	MCF-7	breast:
9	chr9:96444213..96445067-chr9:96670972..96672102,3	MCF-7	breast:
10	chr9:96671304..96672841-chr9:96674548..96676141,2	MCF-7	breast:
11	chr9:96671304..96672841-chr9:96674548..96676141,2	MCF-7	breast:
12	chr9:96672827..96673633-chr9:96725329..96725969,2	K562	blood:
13	chr9:96672307..96674659-chr9:96674694..96676957,2	MCF-7	breast:
14	chr9:96655426..96659394-chr9:96661426..96665501,6	MCF-7	breast:
15	chr9:96447514..96448042-chr9:96670972..96671488,2	MCF-7	breast:
16	chr9:96673909..96678084-chr9:96678410..96682250,3	K562	blood:
17	chr9:96671241..96673198-chr9:96724070..96726611,2	MCF-7	breast:
18	chr9:96666033..96667879-chr9:96676753..96678543,2	MCF-7	breast:
19	chr9:96460922..96462912-chr9:96670944..96672850,2	K562	blood:
20	chr9:96621785..96622572-chr9:96671016..96671565,2	MCF-7	breast:
21	chr9:96652972..96654970-chr9:96657253..96659540,2	MCF-7	breast:
22	chr9:96642929..96644771-chr9:96665466..96667734,2	MCF-7	breast:
23	chr9:96683692..96685555-chr9:96716770..96718550,2	K562	blood:
24	chr9:96656015..96657684-chr9:96723768..96726547,2	MCF-7	breast:
25	chr9:96666065..96667806-chr9:96670157..96672697,2	MCF-7	breast:
26	chr9:96670566..96673928-chr9:96676412..96679551,4	K562	blood:
27	chr9:96673909..96678084-chr9:96678410..96682250,3	K562	blood:
28	chr9:96685373..96688082-chr9:96734506..96736801,2	MCF-7	breast:
29	chr9:96684932..96686816-chr9:96693368..96695671,2	MCF-7	breast:
30	chr9:96669102..96671238-chr9:96671311..96673716,2	MCF-7	breast:
31	chr9:96669941..96671466-chr9:96672760..96674877,2	K562	blood:
32	chr9:96678251..96680846-chr9:96690063..96691952,2	MCF-7	breast:
33	chr9:96673253..96675820-chr9:96696121..96697775,2	MCF-7	breast:
34	chr9:96444220..96444763-chr9:96671055..96671697,2	MCF-7	breast:
35	chr9:96619287..96621506-chr9:96664361..96666949,2	MCF-7	breast:
36	chr9:96665849..96668496-chr9:96668506..96670375,2	K562	blood:
37	chr9:96675737..96678225-chr9:96714280..96716510,2	MCF-7	breast:
38	chr9:96666033..96667879-chr9:96676753..96678543,2	MCF-7	breast:
39	chr9:96655426..96659394-chr9:96661426..96665501,6	MCF-7	breast:
40	chr9:96666065..96667806-chr9:96670157..96672697,2	MCF-7	breast:
41	chr9:96662639..96665282-chr9:96667242..96668877,2	K562	blood:
42	chr9:96683652..96686390-chr9:96691552..96693855,2	MCF-7	breast:
43	chr9:96671163..96671742-chr9:96725208..96725792,2	MCF-7	breast:
44	chr9:96582571..96583542-chr9:96670824..96672140,6	MCF-7	breast:
45	chr9:96676732..96679654-chr9:96681245..96683320,2	MCF-7	breast:
46	chr9:96652322..96655527-chr9:96667781..96670779,3	MCF-7	breast:
47	chr9:96659943..96662280-chr9:96662528..96664579,2	K562	blood:
48	chr9:96670566..96673928-chr9:96676412..96679551,4	K562	blood:
49	chr9:96676732..96679654-chr9:96681245..96683320,2	MCF-7	breast:
50	chr9:96674702..96676543-chr9:96724873..96726532,2	K562	blood:

No data

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

Extended variants
information (count: 1394 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1394 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10821258	chr9:96657324-96657325	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571979713	chr9:96657367-96657368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs151061514	chr9:96657384-96657385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117342879	chr9:96657417-96657418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79510115	chr9:96657438-96657439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112210476	chr9:96657474-96657475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546006248	chr9:96657496-96657497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564009638	chr9:96657507-96657508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140349642	chr9:96657512-96657513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546381338	chr9:96657550-96657551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568020329	chr9:96657608-96657609	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs35380160	chr9:96657622-96657623	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs71499160	chr9:96657624-96657625	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs375607894	chr9:96657625-96657626	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs569601976	chr9:96657626-96657627	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs149919332	chr9:96657630-96657631	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs79945243	chr9:96657661-96657662	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs575915391	chr9:96657721-96657722	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs573397648	chr9:96657724-96657725	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs199740677	chr9:96657725-96657726	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs537037256	chr9:96657745-96657746	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs555448231	chr9:96657752-96657753	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs573687850	chr9:96657779-96657780	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs555069584	chr9:96657797-96657798	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs12238627	chr9:96657963-96657964	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs575528225	chr9:96657979-96657980	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369858204	chr9:96657981-96657982	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61482071	chr9:96658035-96658036	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs61432157	chr9:96658047-96658048	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs577871603	chr9:96658085-96658086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540314221	chr9:96658118-96658119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561814794	chr9:96658119-96658120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75263498	chr9:96658191-96658192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77189439	chr9:96658192-96658193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369365244	chr9:96658193-96658194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372909031	chr9:96658210-96658211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10992965	chr9:96658219-96658220	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs533645461	chr9:96658245-96658246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551787492	chr9:96658275-96658276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567011297	chr9:96658324-96658325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10992966	chr9:96658325-96658326	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs549060872	chr9:96658335-96658336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184834756	chr9:96658344-96658345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537832184	chr9:96658364-96658365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375982089	chr9:96658392-96658393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577962217	chr9:96658411-96658412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539680128	chr9:96658426-96658427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557809564	chr9:96658432-96658433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141080965	chr9:96658464-96658465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540464028	chr9:96658477-96658478	Weak transcription Enhancers	n/a	n/a	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:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96655800-96658800	Enhancers	Pancreas	Pancrea
2	chr9:96656400-96657800	Enhancers	Stomach Mucosa	stomach
3	chr9:96656800-96657600	Enhancers	HepG2	liver
4	chr9:96656800-96660600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:96657600-96657800	Bivalent Enhancer	HepG2	liver
6	chr9:96657600-96658000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:96657800-96660000	Weak transcription	Stomach Mucosa	stomach
8	chr9:96658600-96661600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr9:96658600-96661600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr9:96659000-96660000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr9:96659000-96661400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr9:96659000-96661600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr9:96659000-96661600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr9:96659200-96661200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr9:96659200-96661400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr9:96659400-96661200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr9:96659600-96660400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr9:96659600-96661400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr9:96660000-96660200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr9:96660000-96660600	Enhancers	Stomach Mucosa	stomach
21	chr9:96660000-96661000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr9:96660000-96661400	Enhancers	Primary T cells from cord blood	blood
23	chr9:96660200-96660400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr9:96660400-96660600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr9:96660400-96660800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr9:96660600-96661200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:96660600-96661600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr9:96660800-96661400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr9:96660800-96661800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr9:96662600-96663800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr9:96663400-96664000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr9:96663600-96663800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr9:96664000-96664200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:96665000-96666200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr9:96665000-96666200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr9:96665000-96666600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr9:96665200-96665400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr9:96665200-96665400	Bivalent Enhancer	Fetal Stomach	stomach
39	chr9:96665400-96674400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr9:96665600-96666000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:96666000-96674600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:96666200-96668200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr9:96666600-96671000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr9:96667400-96667800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr9:96667600-96668000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr9:96667800-96668000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr9:96668000-96671000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr9:96668400-96668600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr9:96668400-96668600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:96668400-96669000	Enhancers	Fetal Stomach	stomach

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