Variant report

Variant	esv3347584
Chromosome Location	chr9:3141001-3169799
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	chr9:3153271..3155559-chr9:3163455..3165401,2	K562	blood:
2	chr9:3153271..3155559-chr9:3163455..3165401,2	K562	blood:

Extended variants
information (count: 557 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:557 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376322623	chr9:3148608-3148609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574088185	chr9:3148611-3148612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192755373	chr9:3148661-3148662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563199326	chr9:3148665-3148666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370019521	chr9:3148675-3148676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111741205	chr9:3148720-3148721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545651244	chr9:3148742-3148743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548878992	chr9:3148753-3148754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185213107	chr9:3148757-3148758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10813573	chr9:3148778-3148779	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs114515866	chr9:3148806-3148807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567941935	chr9:3148815-3148816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530108478	chr9:3148851-3148852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550209943	chr9:3148899-3148900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570318697	chr9:3148922-3148923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539343111	chr9:3148936-3148937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558853046	chr9:3148951-3148952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566251709	chr9:3148952-3148953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145249780	chr9:3148956-3148957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370811969	chr9:3148969-3148970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554098677	chr9:3149046-3149047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148096691	chr9:3149063-3149064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554232881	chr9:3149075-3149076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143752168	chr9:3149081-3149082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140932327	chr9:3149082-3149083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71329460	chr9:3149083-3149084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149130807	chr9:3149092-3149093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142280573	chr9:3149129-3149130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190160810	chr9:3149150-3149151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs62532606	chr9:3149159-3149160	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs141142801	chr9:3149164-3149165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559415307	chr9:3149168-3149169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2065087	chr9:3149203-3149204	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs182397437	chr9:3149208-3149209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2065088	chr9:3149215-3149216	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs114768352	chr9:3149272-3149273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9969757	chr9:3149276-3149277	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs536835904	chr9:3149310-3149311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112963819	chr9:3149311-3149312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532438722	chr9:3149319-3149320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200258129	chr9:3149357-3149358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200738375	chr9:3149373-3149374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186294233	chr9:3149385-3149386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566281944	chr9:3149390-3149391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535177778	chr9:3149404-3149405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201872271	chr9:3149405-3149406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371224161	chr9:3149414-3149415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548374704	chr9:3149415-3149416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557240078	chr9:3149419-3149420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574350451	chr9:3149459-3149460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Ovarian cancer	22355333	CNVD
Autism	20808228	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:3148600-3150200	Enhancers	HepG2	liver
2	chr9:3148800-3149000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:3149000-3151400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:3149400-3151400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:3149600-3150000	Enhancers	Fetal Muscle Trunk	muscle
6	chr9:3149600-3150600	Enhancers	Fetal Muscle Leg	muscle
7	chr9:3150000-3150400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:3150200-3150600	Flanking Active TSS	HepG2	liver
9	chr9:3150600-3151400	Enhancers	HepG2	liver
10	chr9:3151200-3152200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr9:3151400-3151800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:3151400-3152200	Enhancers	Fetal Intestine Large	intestine
13	chr9:3151400-3152400	Enhancers	Fetal Intestine Small	intestine
14	chr9:3151400-3152800	Flanking Active TSS	HepG2	liver
15	chr9:3151800-3152000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:3152000-3152200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:3152800-3153600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr9:3152800-3153800	Enhancers	HepG2	liver
19	chr9:3153000-3153400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr9:3153800-3157200	Weak transcription	HepG2	liver
21	chr9:3156600-3157400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr9:3157200-3157600	Enhancers	HepG2	liver
23	chr9:3167200-3167400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:3167800-3168200	Enhancers	Primary hematopoietic stem cells	blood
25	chr9:3168000-3168200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr9:3169600-3170200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links