Variant report

Variant	esv275574
Chromosome Location	chr1:213382672-213393600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 500 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189892898	chr1:213382690-213382691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546660057	chr1:213382709-213382710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571123437	chr1:213382727-213382728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538406277	chr1:213382765-213382766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569574914	chr1:213382836-213382837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181249543	chr1:213382852-213382853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569101637	chr1:213382950-213382951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536536501	chr1:213382969-213382970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558722181	chr1:213382987-213382988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146148353	chr1:213382989-213382990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572850303	chr1:213382999-213383000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386369576	chr1:213383039-213383040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386369577	chr1:213383063-213383064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs60840755	chr1:213383064-213383065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187166353	chr1:213383112-213383113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565760686	chr1:213383147-213383148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535283605	chr1:213383174-213383175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12564027	chr1:213383175-213383176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142402681	chr1:213383179-213383180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566977000	chr1:213383192-213383193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578220578	chr1:213383207-213383208	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554855603	chr1:213383233-213383234	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74503858	chr1:213383250-213383251	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191496707	chr1:213383284-213383285	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574935867	chr1:213383313-213383314	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151311166	chr1:213383334-213383335	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73093616	chr1:213383336-213383337	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs528434172	chr1:213383395-213383396	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546698773	chr1:213383438-213383439	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564988960	chr1:213383473-213383474	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532633916	chr1:213383543-213383544	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550540913	chr1:213383582-213383583	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569015535	chr1:213383603-213383604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113716459	chr1:213383607-213383608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537347583	chr1:213383637-213383638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548472449	chr1:213383645-213383646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs80107331	chr1:213383679-213383680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368943615	chr1:213383725-213383726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140476544	chr1:213383772-213383773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533726057	chr1:213383806-213383807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558583804	chr1:213383807-213383808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577053090	chr1:213383859-213383860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183409829	chr1:213383861-213383862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557300834	chr1:213383865-213383866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150010179	chr1:213383920-213383921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542965736	chr1:213384014-213384015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561204844	chr1:213384050-213384051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572904245	chr1:213384091-213384092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74139157	chr1:213384117-213384118	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs564926043	chr1:213384240-213384241	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213326600-213422200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:213328200-213387200	Weak transcription	Spleen	Spleen
3	chr1:213340600-213424600	Weak transcription	Pancreas	Pancrea
4	chr1:213345600-213404600	Weak transcription	Osteobl	bone
5	chr1:213346200-213387400	Weak transcription	Gastric	stomach
6	chr1:213350400-213383200	Weak transcription	Placenta	Placenta
7	chr1:213357800-213387200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:213360400-213405200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:213361600-213386600	Weak transcription	Aorta	Aorta
10	chr1:213362200-213415400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:213368200-213386600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:213368200-213387200	Weak transcription	Lung	lung
13	chr1:213369600-213388800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:213369800-213398200	Weak transcription	Fetal Heart	heart
15	chr1:213370800-213427600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:213371000-213389400	Weak transcription	Right Ventricle	heart
17	chr1:213371600-213385000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:213371600-213385400	Weak transcription	NHDF-Ad	bronchial
19	chr1:213371800-213386000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:213371800-213387200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:213371800-213388800	Weak transcription	HepG2	liver
22	chr1:213371800-213390000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:213372000-213389800	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:213372000-213393200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:213372000-213405200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:213372600-213390200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:213372600-213413800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr1:213372800-213387200	Weak transcription	Liver	Liver
29	chr1:213372800-213414000	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:213373000-213385200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:213373000-213386000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:213373000-213398000	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:213373000-213405200	Weak transcription	Left Ventricle	heart
34	chr1:213373000-213414200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr1:213373000-213423000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr1:213373200-213385600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:213373200-213386600	Weak transcription	Dnd41	blood
38	chr1:213373200-213405000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr1:213373200-213417000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr1:213374200-213385600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:213374400-213385200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr1:213374400-213385600	Weak transcription	Fetal Brain Female	brain
43	chr1:213374400-213386600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:213375200-213390400	Weak transcription	HSMMtube	muscle
45	chr1:213375400-213388600	Weak transcription	HMEC	breast
46	chr1:213375800-213405200	Weak transcription	Psoas Muscle	Psoas
47	chr1:213375800-213405200	Weak transcription	HSMM	muscle
48	chr1:213376000-213387200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:213376000-213387200	Weak transcription	Esophagus	oesophagus
50	chr1:213376000-213387200	Weak transcription	Fetal Intestine Large	intestine

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