Variant report

Variant	esv3402834
Chromosome Location	chr9:92753532-92758030
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:92218844..92221552-chr9:92753347..92755241,2	MCF-7	breast:
2	chr9:92741964..92746302-chr9:92752977..92756296,4	MCF-7	breast:
3	chr9:92216749..92221414-chr9:92756839..92763409,10	MCF-7	breast:
4	chr9:92755082..92756623-chr9:92757434..92759681,2	MCF-7	breast:
5	chr9:92748557..92752468-chr9:92755294..92758086,3	MCF-7	breast:
6	chr9:92748243..92750612-chr9:92751364..92753556,2	MCF-7	breast:
7	chr9:92680975..92683191-chr9:92752643..92754269,2	MCF-7	breast:
8	chr9:92756890..92759147-chr9:92762216..92764609,2	MCF-7	breast:
9	chr9:92736111..92738739-chr9:92755408..92756984,2	MCF-7	breast:
10	chr9:92755082..92756623-chr9:92757434..92759681,2	MCF-7	breast:
11	chr9:92218567..92220178-chr9:92756424..92758715,2	MCF-7	breast:
12	chr9:92753705..92756579-chr9:92759778..92762031,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000130222	chromatin interactions

Extended variants
information (count: 208 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:208 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543853023	chr9:92753550-92753551	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs553666597	chr9:92753568-92753569	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs137923735	chr9:92753569-92753570	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs529371214	chr9:92753575-92753576	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs549417590	chr9:92753596-92753597	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs369700153	chr9:92753708-92753709	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs143402409	chr9:92753723-92753724	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs528318033	chr9:92753784-92753785	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs144172985	chr9:92753808-92753809	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs571244787	chr9:92753812-92753813	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs536915723	chr9:92753821-92753822	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs148270806	chr9:92753884-92753885	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs567211130	chr9:92753889-92753890	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs10123341	chr9:92753915-92753916	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs75925423	chr9:92753943-92753944	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs11286335	chr9:92753945-92753946	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs77700005	chr9:92753946-92753947	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs74709954	chr9:92753958-92753959	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs553075924	chr9:92753960-92753961	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs141306856	chr9:92754015-92754016	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs535266849	chr9:92754020-92754021	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs558347917	chr9:92754070-92754071	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs578255324	chr9:92754093-92754094	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs557702254	chr9:92754129-92754130	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs182580648	chr9:92754168-92754169	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563543540	chr9:92754236-92754237	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs150772601	chr9:92754265-92754266	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs12351881	chr9:92754276-92754277	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs559825956	chr9:92754285-92754286	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs528552699	chr9:92754304-92754305	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs139277074	chr9:92754422-92754423	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs564711401	chr9:92754445-92754446	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs7036231	chr9:92754470-92754471	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs550891180	chr9:92754481-92754482	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369007611	chr9:92754559-92754560	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs187618601	chr9:92754569-92754570	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs544425048	chr9:92754613-92754614	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs546260402	chr9:92754632-92754633	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs78327297	chr9:92754651-92754652	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs562258626	chr9:92754654-92754655	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs538709208	chr9:92754673-92754674	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs75309537	chr9:92754692-92754693	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs578186818	chr9:92754710-92754711	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs537239929	chr9:92754745-92754746	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs376195751	chr9:92754769-92754770	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs76413470	chr9:92754802-92754803	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs530534382	chr9:92754814-92754815	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543044929	chr9:92754836-92754837	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs552916899	chr9:92754842-92754843	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs573025452	chr9:92754900-92754901	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:92745000-92755400	Weak transcription	Psoas Muscle	Psoas
2	chr9:92748600-92754400	Weak transcription	Lung	lung
3	chr9:92748800-92754000	Weak transcription	Esophagus	oesophagus
4	chr9:92749000-92753600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr9:92750200-92759800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr9:92750400-92755600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:92750600-92755400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr9:92750800-92755400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:92751600-92754200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr9:92751600-92754400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr9:92751600-92756000	Weak transcription	HSMMtube	muscle
12	chr9:92751600-92756200	Weak transcription	HSMM	muscle
13	chr9:92751800-92756000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr9:92752200-92754000	Weak transcription	Fetal Heart	heart
15	chr9:92752200-92755200	Weak transcription	Primary B cells from cord blood	blood
16	chr9:92752200-92757400	Enhancers	Stomach Mucosa	stomach
17	chr9:92752400-92761600	Weak transcription	Aorta	Aorta
18	chr9:92752600-92757400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr9:92752800-92753600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:92752800-92753600	Weak transcription	Pancreas	Pancrea
21	chr9:92752800-92754200	Weak transcription	Placenta	Placenta
22	chr9:92752800-92754400	Weak transcription	Left Ventricle	heart
23	chr9:92752800-92754400	Weak transcription	Right Ventricle	heart
24	chr9:92752800-92754600	Weak transcription	Gastric	stomach
25	chr9:92752800-92754600	Weak transcription	Right Atrium	heart
26	chr9:92752800-92759600	Enhancers	Liver	Liver
27	chr9:92753000-92754000	Enhancers	Brain Germinal Matrix	brain
28	chr9:92753200-92754200	Enhancers	NHEK	skin
29	chr9:92753200-92754800	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr9:92753200-92757200	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr9:92753400-92753600	Enhancers	Brain Hippocampus Middle	brain
32	chr9:92753400-92754200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:92753400-92756200	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr9:92753600-92753800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr9:92753600-92754200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:92753600-92754200	Enhancers	Brain Substantia Nigra	brain
37	chr9:92753600-92757800	Enhancers	Pancreas	Pancrea
38	chr9:92753600-92758000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:92753600-92765400	Enhancers	Fetal Intestine Large	intestine
40	chr9:92753800-92754600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr9:92754000-92755000	Enhancers	Esophagus	oesophagus
42	chr9:92754000-92758600	Enhancers	Fetal Heart	heart
43	chr9:92754000-92765400	Enhancers	Fetal Intestine Small	intestine
44	chr9:92754200-92754400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr9:92754200-92755400	Weak transcription	Brain Substantia Nigra	brain
46	chr9:92754200-92759200	Enhancers	Placenta	Placenta
47	chr9:92754400-92754600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr9:92754400-92754600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr9:92754400-92754600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr9:92754400-92755000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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