Variant report

Variant	esv3363527
Chromosome Location	chr9:2615104-2615485
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:2613768..2615804-chr9:2618805..2621446,2	K562	blood:
2	chr9:2613986..2615496-chr9:2621852..2624711,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147852	chromatin interactions
ENSG00000236404	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571751162	chr9:2615107-2615108	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs534255454	chr9:2615108-2615109	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs10967182	chr9:2615163-2615164	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574242467	chr9:2615226-2615227	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs536855431	chr9:2615227-2615228	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs34659175	chr9:2615246-2615247	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs76511364	chr9:2615252-2615253	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs576713369	chr9:2615280-2615281	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs568013115	chr9:2615300-2615301	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs544662108	chr9:2615311-2615312	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs370135024	chr9:2615318-2615319	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs182391008	chr9:2615337-2615338	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs547300922	chr9:2615340-2615341	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs118025385	chr9:2615414-2615415	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs540684667	chr9:2615416-2615417	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs560654614	chr9:2615450-2615451	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs566021213	chr9:2615469-2615470	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs529837107	chr9:2615474-2615475	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Schizophrenia	23813976	CNVD
Ovarian cancer	22355333	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Schizophrenia	20967226	CNVD
Ovarian cancer	21781307	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2609600-2615200	Weak transcription	Brain Substantia Nigra	brain
2	chr9:2610600-2615800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr9:2612000-2616600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:2612400-2616000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr9:2612800-2616000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr9:2613200-2616000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr9:2613200-2616000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr9:2613200-2616000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr9:2613400-2616000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr9:2613600-2615800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr9:2613600-2616000	Enhancers	Fetal Kidney	kidney
12	chr9:2613800-2615200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr9:2614200-2615400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr9:2614200-2615600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:2614200-2615600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr9:2614200-2615600	Weak transcription	Ovary	ovary
17	chr9:2614200-2618800	Weak transcription	Fetal Heart	heart
18	chr9:2614200-2621000	Weak transcription	Pancreas	Pancrea
19	chr9:2614200-2621200	Weak transcription	Lung	lung
20	chr9:2614400-2616600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:2614400-2620600	Weak transcription	Right Atrium	heart
22	chr9:2614400-2621000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr9:2615000-2615400	Weak transcription	Fetal Stomach	stomach
24	chr9:2615000-2615600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr9:2615200-2616000	Enhancers	Brain Substantia Nigra	brain
26	chr9:2615400-2615800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr9:2615400-2616400	Enhancers	Fetal Stomach	stomach

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