Variant report

Variant	esv3389059
Chromosome Location	chr9:96410731-96413929
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:96403393..96404983-chr9:96412253..96413930,2	MCF-7	breast:
2	chr9:96405323..96407093-chr9:96410616..96412899,2	K562	blood:
3	chr9:96405323..96407583-chr9:96410616..96412899,3	K562	blood:
4	chr9:96391831..96394155-chr9:96413684..96415869,2	K562	blood:
5	chr9:96338588..96340129-chr9:96412677..96415409,2	MCF-7	breast:
6	chr9:96355442..96358084-chr9:96410672..96413121,3	MCF-7	breast:
7	chr9:96411800..96413942-chr9:96415397..96417041,2	K562	blood:
8	chr9:96337557..96339604-chr9:96409180..96410811,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197724	chromatin interactions

Extended variants
information (count: 148 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538077185	chr9:96410732-96410733	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs570121817	chr9:96410737-96410738	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571385458	chr9:96410781-96410782	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538603927	chr9:96410850-96410851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549148064	chr9:96410914-96410915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553811626	chr9:96411098-96411099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567361144	chr9:96411129-96411130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542943049	chr9:96411250-96411251	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35940700	chr9:96411347-96411348	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144317233	chr9:96411357-96411358	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200581349	chr9:96411378-96411379	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375528061	chr9:96411396-96411397	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140183485	chr9:96411411-96411412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs16912641	chr9:96411414-96411415	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs369533145	chr9:96411438-96411439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373659582	chr9:96411462-96411463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs202018179	chr9:96411466-96411467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377421787	chr9:96411494-96411495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370185558	chr9:96411501-96411502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs41306463	chr9:96411523-96411524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs41305607	chr9:96411528-96411529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540983284	chr9:96411551-96411552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559316005	chr9:96411554-96411555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112837955	chr9:96411602-96411603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151247010	chr9:96411605-96411606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374800470	chr9:96411660-96411661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs60166120	chr9:96411662-96411663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201336093	chr9:96411663-96411664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200008537	chr9:96411664-96411665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71511670	chr9:96411680-96411681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369141900	chr9:96411681-96411682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575113150	chr9:96411698-96411699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115546187	chr9:96411701-96411702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34988128	chr9:96411764-96411765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538894222	chr9:96411777-96411778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531375251	chr9:96411782-96411783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12683405	chr9:96411794-96411795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10992825	chr9:96411813-96411814	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs145669920	chr9:96411876-96411877	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs191138285	chr9:96411900-96411901	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs138671502	chr9:96411901-96411902	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs141711365	chr9:96411935-96411936	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs565523840	chr9:96411944-96411945	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs12235863	chr9:96411956-96411957	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs554935191	chr9:96411957-96411958	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs374669825	chr9:96411967-96411968	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs202201590	chr9:96411969-96411970	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs200334090	chr9:96411970-96411971	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs201934501	chr9:96411973-96411974	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs531129084	chr9:96411980-96411981	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:240 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96380200-96411800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr9:96384600-96412200	Weak transcription	Stomach Mucosa	stomach
3	chr9:96387000-96411800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:96392200-96412000	Weak transcription	HMEC	breast
5	chr9:96392200-96423600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr9:96396400-96412000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr9:96398200-96411200	Weak transcription	HUVEC	blood vessel
8	chr9:96398200-96413800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr9:96399000-96423400	Strong transcription	Fetal Intestine Large	intestine
10	chr9:96399400-96423600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr9:96400200-96412000	Weak transcription	Hela-S3	cervix
12	chr9:96400400-96412000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr9:96400400-96412000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr9:96400400-96430600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr9:96400600-96411600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr9:96400600-96411800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr9:96400600-96412000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr9:96400800-96411800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr9:96400800-96411800	Weak transcription	Fetal Brain Male	brain
20	chr9:96400800-96411800	Weak transcription	K562	blood
21	chr9:96401000-96411800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr9:96401000-96411800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:96401000-96411800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr9:96401000-96411800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr9:96401000-96412000	Weak transcription	A549	lung
26	chr9:96401000-96430000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:96401000-96438600	Weak transcription	Psoas Muscle	Psoas
28	chr9:96401600-96423400	Strong transcription	Adipose Nuclei	Adipose
29	chr9:96401800-96411800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr9:96401800-96423400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr9:96402200-96411600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:96402400-96411800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr9:96402400-96411800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr9:96402600-96430200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr9:96402600-96433600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr9:96402800-96411800	Weak transcription	Fetal Kidney	kidney
37	chr9:96403200-96412000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr9:96403200-96423000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr9:96403400-96430800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr9:96403400-96430800	Strong transcription	Liver	Liver
41	chr9:96403800-96412600	Strong transcription	Placenta	Placenta
42	chr9:96404200-96422600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr9:96405000-96423400	Strong transcription	Fetal Thymus	thymus
44	chr9:96405000-96423800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr9:96405200-96423600	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr9:96405200-96429200	Strong transcription	Duodenum Mucosa	Duodenum
47	chr9:96405200-96431400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr9:96405400-96411800	Strong transcription	Lung	lung
49	chr9:96405400-96423000	Strong transcription	Fetal Stomach	stomach
50	chr9:96405400-96423200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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