Variant report

Variant	esv3483546
Chromosome Location	chr9:72034132-72038630
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:72038579..72040872-chr9:72161729..72164338,3	MCF-7	breast:
2	chr9:72036664..72037777-chr9:72163377..72165001,9	K562	blood:
3	chr9:72036812..72037787-chr9:72160880..72161856,6	MCF-7	breast:
4	chr9:72036807..72037778-chr9:72056686..72057333,2	MCF-7	breast:
5	chr9:72036895..72038079-chr9:72163773..72164881,7	MCF-7	breast:

Extended variants
information (count: 186 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4387043	chr9:72034145-72034146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187317049	chr9:72034176-72034177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78821705	chr9:72034181-72034182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530252966	chr9:72034188-72034189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74202749	chr9:72034221-72034222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4316205	chr9:72034232-72034233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs554566024	chr9:72034238-72034239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371035460	chr9:72034256-72034257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569767317	chr9:72034257-72034258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192301063	chr9:72034262-72034263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4535801	chr9:72034267-72034268	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs77098404	chr9:72034284-72034285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75149916	chr9:72034288-72034289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570467138	chr9:72034294-72034295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575281584	chr9:72034308-72034309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553318179	chr9:72034347-72034348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78035616	chr9:72034353-72034354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4475564	chr9:72034377-72034378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs535664868	chr9:72034401-72034402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556861844	chr9:72034407-72034408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576520110	chr9:72034443-72034444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543547778	chr9:72034454-72034455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146294760	chr9:72034545-72034546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576843529	chr9:72034546-72034547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544615066	chr9:72034592-72034593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559648751	chr9:72034603-72034604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184488386	chr9:72034646-72034647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10119925	chr9:72034658-72034659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531394212	chr9:72034697-72034698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1624696	chr9:72034737-72034738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531088900	chr9:72034740-72034741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142004023	chr9:72034768-72034769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577286324	chr9:72034772-72034773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570526288	chr9:72034838-72034839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534621068	chr9:72034839-72034840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367807623	chr9:72034855-72034856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150669309	chr9:72034900-72034901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568395113	chr9:72034931-72034932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535376625	chr9:72034969-72034970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557166337	chr9:72034973-72034974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188603907	chr9:72034997-72034998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139832224	chr9:72035000-72035001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558649292	chr9:72035009-72035010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576905365	chr9:72035047-72035048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7870449	chr9:72035136-72035137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs559312160	chr9:72035143-72035144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193266395	chr9:72035180-72035181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111680016	chr9:72035183-72035184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4744895	chr9:72035189-72035190	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs7870559	chr9:72035199-72035200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
Melanoma	22183965	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72027000-72040000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:72036000-72036200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr9:72036000-72037600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr9:72036200-72043000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr9:72036400-72037200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr9:72036600-72082600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr9:72036800-72037000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr9:72036800-72037200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:72036800-72037200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr9:72036800-72037200	Enhancers	Stomach Mucosa	stomach
11	chr9:72036800-72037400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:72036800-72037600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:72036800-72045200	Weak transcription	Fetal Brain Female	brain
14	chr9:72037000-72037200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:72037000-72037200	Enhancers	Fetal Lung	lung
16	chr9:72037000-72037200	Enhancers	Fetal Muscle Leg	muscle
17	chr9:72037000-72037600	Enhancers	Brain Angular Gyrus	brain
18	chr9:72037000-72037600	Enhancers	Brain Cingulate Gyrus	brain
19	chr9:72037000-72037600	Enhancers	Brain Hippocampus Middle	brain
20	chr9:72037000-72037600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr9:72037000-72037600	Enhancers	Brain Substantia Nigra	brain
22	chr9:72037000-72037600	Enhancers	Fetal Stomach	stomach
23	chr9:72037200-72037600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr9:72037200-72037800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr9:72037200-72039800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr9:72037200-72040200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr9:72037200-72046600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr9:72037200-72048600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:72037200-72055600	Weak transcription	Fetal Lung	lung
30	chr9:72037200-72056200	Weak transcription	Fetal Muscle Leg	muscle
31	chr9:72037400-72037600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr9:72037400-72037600	Enhancers	Fetal Kidney	kidney
33	chr9:72037400-72037600	Enhancers	Stomach Smooth Muscle	stomach
34	chr9:72037400-72045200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr9:72037600-72039000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:72037600-72039400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr9:72037600-72039600	Weak transcription	Brain Hippocampus Middle	brain
38	chr9:72037600-72039600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr9:72037600-72039600	Weak transcription	Brain Substantia Nigra	brain
40	chr9:72037600-72039800	Weak transcription	Brain Angular Gyrus	brain
41	chr9:72037600-72039800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr9:72037600-72044800	Weak transcription	Fetal Stomach	stomach
43	chr9:72037600-72046600	Weak transcription	Fetal Kidney	kidney

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