Variant report

Variant	esv1824724
Chromosome Location	chr9:96582360-96598551
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:96581901..96582443-chr9:96724981..96725856,2	MCF-7	breast:
2	chr9:96582571..96583542-chr9:96670824..96672140,6	MCF-7	breast:
3	chr9:96581793..96583854-chr9:96762877..96764983,2	MCF-7	breast:
4	chr9:96578082..96580794-chr9:96589980..96592081,2	K562	blood:
5	chr9:96573213..96577608-chr9:96586073..96591162,5	K562	blood:
6	chr9:96582631..96583817-chr9:96724571..96725838,5	MCF-7	breast:
7	chr9:96576722..96579427-chr9:96585634..96588244,2	MCF-7	breast:
8	chr9:96589596..96590325-chr9:96671569..96672287,2	MCF-7	breast:
9	chr9:96444176..96445839-chr9:96582616..96583550,7	MCF-7	breast:
10	chr9:96582976..96585488-chr9:96587279..96589312,4	K562	blood:
11	chr9:96568463..96571319-chr9:96587277..96588923,2	K562	blood:
12	chr9:96593842..96594413-chr9:96724983..96725802,2	MCF-7	breast:
13	chr9:96586903..96589858-chr9:96593611..96595435,2	K562	blood:
14	chr9:96582976..96585488-chr9:96587279..96589312,4	K562	blood:
15	chr9:96586903..96589858-chr9:96593611..96595435,2	K562	blood:
16	chr9:96582976..96585488-chr9:96587279..96589312,3	K562	blood:
17	chr9:96327287..96328881-chr9:96584102..96586760,2	K562	blood:
18	chr9:96582647..96583512-chr9:96725049..96725919,3	MCF-7	breast:
19	chr9:96582976..96585488-chr9:96587279..96589312,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263875	chromatin interactions

Extended variants
information (count: 449 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:449 , 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	rs10761281	chr9:96582360-96582361	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567122548	chr9:96582361-96582362	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs559065332	chr9:96582649-96582650	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs577245275	chr9:96582664-96582665	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs541549390	chr9:96582690-96582691	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs559478721	chr9:96582706-96582707	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs530156673	chr9:96582734-96582735	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs576920453	chr9:96582763-96582764	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs111689342	chr9:96582775-96582776	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs117440602	chr9:96582776-96582777	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs531371236	chr9:96582778-96582779	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs187221947	chr9:96582794-96582795	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs80002730	chr9:96582814-96582815	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs571451631	chr9:96582882-96582883	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs4743935	chr9:96582954-96582955	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs547514100	chr9:96582969-96582970	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs191624887	chr9:96582986-96582987	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs144103098	chr9:96583047-96583048	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs73651913	chr9:96583048-96583049	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs570383865	chr9:96583122-96583123	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs141127321	chr9:96583164-96583165	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs142237204	chr9:96583200-96583201	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs577408135	chr9:96583209-96583210	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs534805545	chr9:96583214-96583215	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs553437394	chr9:96583246-96583247	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs574704269	chr9:96583270-96583271	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs12236005	chr9:96583279-96583280	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs530191379	chr9:96583310-96583311	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs560823100	chr9:96583315-96583316	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs140137909	chr9:96583320-96583321	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs183876188	chr9:96583322-96583323	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs150294521	chr9:96583334-96583335	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs138021427	chr9:96583335-96583336	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs547135241	chr9:96583360-96583361	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs371437892	chr9:96583364-96583365	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs529684849	chr9:96583429-96583430	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs548185639	chr9:96583499-96583500	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs35790810	chr9:96583523-96583524	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs143112260	chr9:96583549-96583550	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs10123836	chr9:96584109-96584110	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs71496452	chr9:96584137-96584138	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs71496453	chr9:96584149-96584150	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs184177998	chr9:96584356-96584357	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs188619925	chr9:96584394-96584395	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs28530603	chr9:96584409-96584410	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs7038613	chr9:96584499-96584500	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs568353064	chr9:96584508-96584509	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs535548678	chr9:96584515-96584516	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs181064900	chr9:96584516-96584517	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs185396234	chr9:96584578-96584579	Inactive region	Chromatin interactive region	1 gene(s)	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:200 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96582200-96582400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
2	chr9:96582600-96583200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr9:96583000-96583400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:96583200-96583600	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr9:96587800-96589600	Enhancers	Stomach Smooth Muscle	stomach
6	chr9:96588200-96588400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
7	chr9:96588400-96588600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
8	chr9:96588400-96588600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
9	chr9:96588400-96588800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:96588400-96589200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr9:96588400-96589400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:96588400-96590200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr9:96588400-96590200	Bivalent Enhancer	Placenta	Placenta
14	chr9:96588600-96588800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr9:96588600-96588800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
16	chr9:96588600-96588800	ZNF genes & repeats	Pancreas	Pancrea
17	chr9:96588600-96589400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr9:96588600-96589800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr9:96588600-96590200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr9:96588600-96590600	Bivalent Enhancer	Spleen	Spleen
21	chr9:96588800-96589000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
22	chr9:96588800-96589000	Enhancers	Pancreas	Pancrea
23	chr9:96588800-96589400	Bivalent Enhancer	Fetal Brain Male	brain
24	chr9:96588800-96590000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
25	chr9:96588800-96590000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
26	chr9:96588800-96590200	Active TSS	H9 Cell Line	embryonic stem cell
27	chr9:96588800-96590200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr9:96588800-96590200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
29	chr9:96589000-96589200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr9:96589000-96589400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr9:96589000-96589600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr9:96589000-96589600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:96589000-96589600	Weak transcription	Pancreas	Pancrea
34	chr9:96589000-96589600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
35	chr9:96589000-96589800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
36	chr9:96589000-96589800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr9:96589000-96589800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr9:96589000-96589800	Bivalent Enhancer	Fetal Brain Female	brain
39	chr9:96589000-96590000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr9:96589000-96590000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr9:96589000-96590000	Bivalent Enhancer	Fetal Stomach	stomach
42	chr9:96589000-96590200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr9:96589000-96590200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
44	chr9:96589000-96590200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
45	chr9:96589000-96590200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr9:96589000-96590200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
47	chr9:96589000-96590200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
48	chr9:96589200-96589800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr9:96589200-96589800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
50	chr9:96589200-96589800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links