Variant report

Variant	esv3339224
Chromosome Location	chr1:10241670-10242029
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	chr1:10236689..10240278-chr1:10240808..10244135,3	K562	blood:

Variant related genes	Relation type
ENSG00000130939	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536469041	chr1:10241683-10241684	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs553202748	chr1:10241724-10241725	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs369759223	chr1:10241731-10241732	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs537981454	chr1:10241798-10241799	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs556228152	chr1:10241823-10241824	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs577993206	chr1:10241831-10241832	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs6699249	chr1:10241836-10241837	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs554175505	chr1:10241852-10241853	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs140389282	chr1:10241860-10241861	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs543324686	chr1:10241913-10241914	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs35264903	chr1:10241922-10241923	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs561501783	chr1:10241929-10241930	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs57130335	chr1:10241936-10241937	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs531934220	chr1:10241943-10241944	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs372937891	chr1:10241952-10241953	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564949200	chr1:10241978-10241979	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs573208434	chr1:10241993-10241994	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs182517548	chr1:10242003-10242004	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565858212	chr1:10242013-10242014	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	20406844	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10221800-10242200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10230400-10245800	Weak transcription	Stomach Mucosa	stomach
3	chr1:10231200-10251600	Weak transcription	Right Atrium	heart
4	chr1:10231400-10242200	Strong transcription	Fetal Intestine Small	intestine
5	chr1:10232800-10246800	Weak transcription	Fetal Kidney	kidney
6	chr1:10233200-10241800	Weak transcription	A549	lung
7	chr1:10233200-10242400	Weak transcription	Fetal Heart	heart
8	chr1:10233200-10258200	Weak transcription	Hela-S3	cervix
9	chr1:10234200-10249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:10235800-10241800	Strong transcription	Liver	Liver
11	chr1:10236400-10241800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:10236400-10258200	Weak transcription	HSMM	muscle
13	chr1:10237000-10242200	Strong transcription	Fetal Stomach	stomach
14	chr1:10237200-10241800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:10237800-10241800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:10238000-10241800	Strong transcription	Lung	lung
17	chr1:10238200-10241800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:10238600-10241800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:10238800-10241800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:10238800-10241800	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:10239000-10244600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:10239200-10242800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:10239600-10242000	Weak transcription	Small Intestine	intestine
24	chr1:10239800-10242400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:10240000-10249600	Weak transcription	GM12878-XiMat	blood
26	chr1:10240000-10255400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:10240200-10242000	Weak transcription	NHLF	lung
28	chr1:10240200-10242200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:10240200-10243600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:10240200-10246400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:10240200-10246800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:10240400-10241800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr1:10240400-10241800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:10240400-10242200	Weak transcription	HMEC	breast
35	chr1:10240400-10242800	Weak transcription	K562	blood
36	chr1:10240400-10244200	Weak transcription	Primary B cells from cord blood	blood
37	chr1:10240400-10244600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr1:10240400-10245600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:10240400-10246400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:10240400-10246400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:10240400-10246600	Weak transcription	Fetal Brain Female	brain
42	chr1:10240400-10246800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:10240400-10250000	Weak transcription	Fetal Brain Male	brain
44	chr1:10240600-10242200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr1:10240600-10242400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:10240600-10242800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:10240600-10242800	Weak transcription	HUVEC	blood vessel
48	chr1:10240600-10243200	Weak transcription	Brain Germinal Matrix	brain
49	chr1:10240800-10241800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:10240800-10243800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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