Variant report

Variant	esv15329
Chromosome Location	chr9:92678855-92698160
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:92218872..92221885-chr9:92684149..92688442,4	MCF-7	breast:
2	chr9:92696162..92698839-chr9:92703402..92705829,2	MCF-7	breast:
3	chr9:92694323..92695967-chr9:92696757..92699366,2	MCF-7	breast:
4	chr9:92689850..92692779-chr9:92694377..92697288,2	MCF-7	breast:
5	chr9:92680975..92683191-chr9:92752643..92754269,2	MCF-7	breast:
6	chr9:92455398..92458346-chr9:92686302..92688067,2	MCF-7	breast:
7	chr9:92681413..92682319-chr9:92861601..92862185,2	MCF-7	breast:
8	chr9:92217349..92218460-chr9:92681070..92682130,5	MCF-7	breast:
9	chr9:92218809..92222310-chr9:92690732..92694174,4	MCF-7	breast:
10	chr9:92213479..92214183-chr9:92681404..92682203,3	MCF-7	breast:
11	chr9:92217623..92219190-chr9:92681257..92682398,15	MCF-7	breast:
12	chr9:92206823..92209475-chr9:92684160..92686501,2	MCF-7	breast:
13	chr9:92218443..92219243-chr9:92680293..92681006,2	MCF-7	breast:
14	chr9:92687092..92689404-chr9:92701251..92704588,3	MCF-7	breast:
15	chr9:92691934..92694632-chr9:92847404..92848934,2	MCF-7	breast:
16	chr14:96564791..96565302-chr9:92685623..92686143,2	MCF-7	breast:
17	chr9:92686545..92689268-chr9:92692416..92694064,2	MCF-7	breast:
18	chr9:92218553..92221280-chr9:92698094..92699991,2	MCF-7	breast:
19	chr9:92693505..92695699-chr9:92701901..92704107,2	MCF-7	breast:
20	chr9:92262537..92264603-chr9:92680059..92681968,2	MCF-7	breast:
21	chr9:92686545..92689268-chr9:92692416..92694064,2	MCF-7	breast:
22	chr9:92681447..92682404-chr9:92758846..92759379,3	MCF-7	breast:
23	chr9:92217841..92222641-chr9:92679830..92688712,19	MCF-7	breast:
24	chr9:92230269..92231261-chr9:92681329..92682051,4	MCF-7	breast:
25	chr9:92216311..92217092-chr9:92681068..92681874,2	MCF-7	breast:
26	chr9:92694323..92695967-chr9:92696757..92699366,2	MCF-7	breast:
27	chr9:92687750..92690637-chr9:92691262..92693318,3	MCF-7	breast:
28	chr9:92689850..92692779-chr9:92694377..92697288,2	MCF-7	breast:
29	chr9:92687750..92690637-chr9:92691262..92693318,3	MCF-7	breast:
30	chr9:92691647..92693844-chr9:92695816..92697738,2	MCF-7	breast:
31	chr9:92218756..92219448-chr9:92686960..92687948,2	MCF-7	breast:
32	chr9:92218340..92221037-chr9:92678847..92682964,5	MCF-7	breast:
33	chr9:92224614..92226212-chr9:92678596..92680615,2	MCF-7	breast:
34	chr9:92691647..92693844-chr9:92695816..92697738,2	MCF-7	breast:
35	chr9:92682411..92684734-chr9:92700082..92701810,2	MCF-7	breast:
36	chr9:92681495..92682068-chr9:92758708..92759575,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000130222	chromatin interactions

Extended variants
information (count: 838 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:838 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537885796	chr9:92678895-92678896	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs566478761	chr9:92678976-92678977	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs558012258	chr9:92678983-92678984	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs192642695	chr9:92679000-92679001	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs145557771	chr9:92679010-92679011	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs78569302	chr9:92679090-92679091	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs376101026	chr9:92679128-92679129	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs28375233	chr9:92679169-92679170	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs187116924	chr9:92679202-92679203	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs571181846	chr9:92679300-92679301	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201157375	chr9:92679363-92679364	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201047938	chr9:92679366-92679367	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs199567155	chr9:92679368-92679369	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs115262844	chr9:92679417-92679418	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs573194383	chr9:92679418-92679419	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545110492	chr9:92679447-92679448	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs16905869	chr9:92679450-92679451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs111787132	chr9:92679482-92679483	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs575672315	chr9:92679492-92679493	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs531140058	chr9:92679522-92679523	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs543001340	chr9:92679528-92679529	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs17540648	chr9:92679571-92679572	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs529869552	chr9:92679600-92679601	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs540426211	chr9:92679607-92679608	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560475728	chr9:92679610-92679611	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs532432260	chr9:92679725-92679726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs551913585	chr9:92679779-92679780	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs542707369	chr9:92679858-92679859	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs568805915	chr9:92679986-92679987	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs531321698	chr9:92680003-92680004	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs144320682	chr9:92680078-92680079	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs548226567	chr9:92680095-92680096	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs192327779	chr9:92680096-92680097	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs536492255	chr9:92680140-92680141	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs17443508	chr9:92680174-92680175	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs544647974	chr9:92680177-92680178	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs564887559	chr9:92680212-92680213	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs558698652	chr9:92680235-92680236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575556412	chr9:92680236-92680237	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs115345036	chr9:92680253-92680254	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs533624237	chr9:92680277-92680278	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs150335505	chr9:92680283-92680284	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs7853547	chr9:92680292-92680293	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs17540718	chr9:92680320-92680321	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs118042762	chr9:92680338-92680339	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs17540745	chr9:92680356-92680357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs374396385	chr9:92680420-92680421	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs567723029	chr9:92680490-92680491	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs76643842	chr9:92680493-92680494	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs184538115	chr9:92680516-92680517	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Glioma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:92678800-92679400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:92678800-92679400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr9:92678800-92679600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:92678800-92679600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr9:92678800-92679600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr9:92678800-92679800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr9:92678800-92680000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:92679000-92679200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:92679000-92679400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr9:92679000-92679400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr9:92679000-92679400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:92679000-92679600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:92679000-92679600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:92679000-92679600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:92679000-92679600	Enhancers	HSMMtube	muscle
16	chr9:92679000-92679800	Enhancers	HSMM	muscle
17	chr9:92679000-92680000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:92679000-92680600	Enhancers	Placenta Amnion	Placenta Amnion
19	chr9:92679000-92683000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr9:92679000-92684000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr9:92679200-92679800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr9:92679400-92679600	Enhancers	Fetal Muscle Trunk	muscle
23	chr9:92679400-92681200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr9:92679400-92681600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr9:92679400-92681800	Enhancers	Placenta	Placenta
26	chr9:92679600-92681000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr9:92679600-92681400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr9:92679600-92681400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:92679600-92685000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:92679800-92681200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr9:92680000-92685600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr9:92680200-92680400	Enhancers	Pancreas	Pancrea
33	chr9:92680400-92680600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:92680400-92681800	Enhancers	Right Ventricle	heart
35	chr9:92680400-92685000	Weak transcription	Pancreas	Pancrea
36	chr9:92680600-92681200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:92680600-92682800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr9:92681000-92681800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr9:92681000-92681800	Enhancers	Fetal Heart	heart
40	chr9:92681200-92681800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr9:92681200-92681800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr9:92681200-92681800	Enhancers	Fetal Intestine Small	intestine
43	chr9:92681400-92681600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr9:92681400-92681600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr9:92681400-92681600	Enhancers	Right Atrium	heart
46	chr9:92681400-92681800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr9:92681400-92681800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr9:92681400-92681800	Enhancers	Fetal Intestine Large	intestine
49	chr9:92681400-92681800	Enhancers	Left Ventricle	heart
50	chr9:92681400-92682000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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