Variant report

Variant	esv1846729
Chromosome Location	chr1:185175837-185194885
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185140925..185143798-chr1:185185580..185188162,2	K562	blood:
2	chr1:184722216..184725128-chr1:185180754..185182510,2	K562	blood:
3	chr1:185192647..185194697-chr1:185200428..185202815,2	K562	blood:
4	chr1:185185431..185188306-chr1:185188977..185191365,2	K562	blood:
5	chr1:185180205..185183795-chr1:185285737..185287650,3	K562	blood:
6	chr1:185185431..185188306-chr1:185188977..185191365,2	K562	blood:

Variant related genes	Relation type
ENSG00000273004	chromatin interactions
ENSG00000116406	chromatin interactions
ENSG00000116679	chromatin interactions

Extended variants
information (count: 733 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2295950	chr1:185175837-185175838	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187082229	chr1:185175856-185175857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147969027	chr1:185175858-185175859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145355483	chr1:185175889-185175890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183754999	chr1:185175890-185175891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs59444625	chr1:185175904-185175905	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535261173	chr1:185175909-185175910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368201277	chr1:185175920-185175921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544567249	chr1:185175973-185175974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2146328	chr1:185176015-185176016	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs555634798	chr1:185176016-185176017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571402464	chr1:185176091-185176092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370849112	chr1:185176115-185176116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370990126	chr1:185176172-185176173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556969408	chr1:185176178-185176179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575198527	chr1:185176216-185176217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542519425	chr1:185176217-185176218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554891751	chr1:185176218-185176219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572950764	chr1:185176235-185176236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369854405	chr1:185176236-185176237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540450969	chr1:185176255-185176256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373994008	chr1:185176267-185176268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77913605	chr1:185176323-185176324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533217642	chr1:185176360-185176361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545117862	chr1:185176376-185176377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7543962	chr1:185176395-185176396	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs61824088	chr1:185176405-185176406	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550644889	chr1:185176422-185176423	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564467507	chr1:185176436-185176437	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569261442	chr1:185176456-185176457	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192720532	chr1:185176467-185176468	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549402520	chr1:185176505-185176506	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149890966	chr1:185176540-185176541	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs61824089	chr1:185176557-185176558	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs16823834	chr1:185176601-185176602	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547183216	chr1:185176602-185176603	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144894795	chr1:185176624-185176625	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538691495	chr1:185176641-185176642	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550705044	chr1:185176752-185176753	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568753384	chr1:185176776-185176777	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185455001	chr1:185176798-185176799	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190710624	chr1:185176829-185176830	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192876454	chr1:185176865-185176866	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533848760	chr1:185176893-185176894	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558299709	chr1:185176916-185176917	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12142042	chr1:185176981-185176982	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs545059122	chr1:185177129-185177130	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563845009	chr1:185177132-185177133	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149022797	chr1:185177154-185177155	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544683475	chr1:185177163-185177164	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Barrett''s syndrome	19417022	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	19197363	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185127400-185192000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:185127600-185184600	Weak transcription	Psoas Muscle	Psoas
3	chr1:185127600-185218200	Weak transcription	Right Ventricle	heart
4	chr1:185128400-185193800	Weak transcription	Brain Angular Gyrus	brain
5	chr1:185128400-185201800	Weak transcription	Gastric	stomach
6	chr1:185134600-185193200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:185137200-185177200	Weak transcription	Primary B cells from cord blood	blood
8	chr1:185137200-185191400	Weak transcription	Brain Anterior Caudate	brain
9	chr1:185137400-185177400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:185137400-185191200	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:185137400-185191400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:185138000-185182200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:185138000-185186200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:185138000-185204000	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:185139600-185177400	Weak transcription	Fetal Kidney	kidney
16	chr1:185139800-185191400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:185140000-185190800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr1:185140000-185191600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:185144800-185181200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:185145000-185182400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:185145200-185191400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:185148400-185193400	Weak transcription	Fetal Thymus	thymus
23	chr1:185151000-185193200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr1:185152200-185200800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr1:185153200-185191600	Weak transcription	Aorta	Aorta
26	chr1:185154400-185191600	Weak transcription	Ovary	ovary
27	chr1:185158600-185176400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:185159600-185177600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:185160000-185192600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:185160600-185191600	Weak transcription	Brain Germinal Matrix	brain
31	chr1:185160800-185192000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:185161800-185191400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:185162000-185190800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:185163600-185190600	Weak transcription	Placenta	Placenta
35	chr1:185167600-185177400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:185167600-185177600	Weak transcription	Liver	Liver
37	chr1:185167800-185182200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:185168000-185201800	Weak transcription	Primary T cells from cord blood	blood
39	chr1:185168200-185191400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:185168400-185192200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:185169400-185177800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:185170000-185179600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:185170400-185192000	Weak transcription	Fetal Intestine Large	intestine
44	chr1:185170800-185191600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:185170800-185191600	Weak transcription	Fetal Intestine Small	intestine
46	chr1:185170800-185191600	Weak transcription	Fetal Muscle Leg	muscle
47	chr1:185170800-185192600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:185170800-185199800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:185170800-185218200	Weak transcription	Pancreas	Pancrea
50	chr1:185171000-185176400	Weak transcription	Lung	lung

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