Variant report

Variant	esv3399737
Chromosome Location	chr9:92682932-92687130
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:92682411..92684734-chr9:92700082..92701810,2	MCF-7	breast:
2	chr9:92218340..92221037-chr9:92678847..92682964,5	MCF-7	breast:
3	chr9:92686545..92689268-chr9:92692416..92694064,2	MCF-7	breast:
4	chr9:92218756..92219448-chr9:92686960..92687948,2	MCF-7	breast:
5	chr9:92218872..92221885-chr9:92684149..92688442,4	MCF-7	breast:
6	chr9:92217841..92222641-chr9:92679830..92688712,19	MCF-7	breast:
7	chr9:92680975..92683191-chr9:92752643..92754269,2	MCF-7	breast:
8	chr9:92206823..92209475-chr9:92684160..92686501,2	MCF-7	breast:
9	chr9:92687092..92689404-chr9:92701251..92704588,3	MCF-7	breast:
10	chr9:92455398..92458346-chr9:92686302..92688067,2	MCF-7	breast:
11	chr14:96564791..96565302-chr9:92685623..92686143,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000130222	chromatin interactions

Extended variants
information (count: 182 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:182 , 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	rs146590142	chr9:92682985-92682986	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs373949988	chr9:92683079-92683080	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs140077405	chr9:92683117-92683118	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs536323351	chr9:92683189-92683190	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568449215	chr9:92683204-92683205	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs556008392	chr9:92683209-92683210	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs535524406	chr9:92683229-92683230	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200835257	chr9:92683248-92683249	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs4743950	chr9:92683273-92683274	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541611568	chr9:92683303-92683304	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs4743952	chr9:92683319-92683320	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs549665946	chr9:92683327-92683328	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190008770	chr9:92683328-92683329	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs61044650	chr9:92683341-92683342	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs569834866	chr9:92683344-92683345	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs182277733	chr9:92683350-92683351	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs549025818	chr9:92683375-92683376	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs559125829	chr9:92683376-92683377	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs558724526	chr9:92683402-92683403	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs4743958	chr9:92683453-92683454	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs10761340	chr9:92683457-92683458	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs4744365	chr9:92683532-92683533	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs4743964	chr9:92683543-92683544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs367662510	chr9:92683561-92683562	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs149783412	chr9:92683564-92683565	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs371743468	chr9:92683584-92683585	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs145715078	chr9:92683606-92683607	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs536358500	chr9:92683686-92683687	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs553152761	chr9:92683697-92683698	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs370440180	chr9:92683716-92683717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs566554019	chr9:92683735-92683736	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374548817	chr9:92683849-92683850	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs534940936	chr9:92683859-92683860	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs558310781	chr9:92683868-92683869	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs578203435	chr9:92683893-92683894	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs11792567	chr9:92683901-92683902	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs574505679	chr9:92683903-92683904	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs544060202	chr9:92683922-92683923	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs556945791	chr9:92683947-92683948	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs148917245	chr9:92684060-92684061	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs13297408	chr9:92684073-92684074	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542607010	chr9:92684082-92684083	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs543315912	chr9:92684086-92684087	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs13294706	chr9:92684118-92684119	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559459754	chr9:92684135-92684136	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs55668200	chr9:92684154-92684155	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs13297564	chr9:92684162-92684163	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs16905894	chr9:92684163-92684164	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs13297565	chr9:92684165-92684166	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs13297691	chr9:92684200-92684201	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:92679000-92683000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr9:92679000-92684000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:92679600-92685000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:92680000-92685600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:92680400-92685000	Weak transcription	Pancreas	Pancrea
6	chr9:92681600-92691600	Weak transcription	Right Atrium	heart
7	chr9:92681800-92684200	Weak transcription	Fetal Heart	heart
8	chr9:92681800-92685400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:92681800-92686000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:92681800-92686200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:92681800-92686200	Weak transcription	Fetal Intestine Large	intestine
12	chr9:92681800-92686200	Weak transcription	Fetal Intestine Small	intestine
13	chr9:92681800-92686200	Weak transcription	Placenta	Placenta
14	chr9:92681800-92686200	Weak transcription	Left Ventricle	heart
15	chr9:92681800-92689000	Weak transcription	Right Ventricle	heart
16	chr9:92682000-92683200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr9:92682000-92685000	Weak transcription	Liver	Liver
18	chr9:92682000-92689200	Weak transcription	Lung	lung
19	chr9:92682400-92683000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr9:92682600-92685000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:92682800-92683600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr9:92683000-92683200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
23	chr9:92683000-92684400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr9:92683000-92684400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr9:92683200-92683400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr9:92683600-92683800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr9:92683600-92684400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr9:92683800-92689200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr9:92684000-92684400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:92684200-92685200	Enhancers	Fetal Heart	heart
31	chr9:92684400-92684600	Enhancers	H9 Cell Line	embryonic stem cell
32	chr9:92684400-92684800	Enhancers	Fetal Lung	lung
33	chr9:92684400-92685600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr9:92684400-92687400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr9:92684400-92687400	Enhancers	Placenta Amnion	Placenta Amnion
36	chr9:92684600-92684800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr9:92684600-92685200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr9:92684800-92685000	Enhancers	Spleen	Spleen
39	chr9:92684800-92685200	ZNF genes & repeats	Fetal Kidney	kidney
40	chr9:92684800-92685200	Flanking Active TSS	Fetal Lung	lung
41	chr9:92685000-92685200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr9:92685000-92685200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:92685000-92685200	Bivalent Enhancer	Fetal Brain Male	brain
44	chr9:92685000-92685200	ZNF genes & repeats	Gastric	stomach
45	chr9:92685000-92685200	Enhancers	Pancreas	Pancrea
46	chr9:92685000-92685800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr9:92685000-92687200	Enhancers	HepG2	liver
48	chr9:92685000-92690800	Enhancers	Liver	Liver
49	chr9:92685000-92691200	Weak transcription	Spleen	Spleen
50	chr9:92685200-92685400	Enhancers	Fetal Brain Male	brain

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