Variant report

Variant	nsv998436
Chromosome Location	chr1:186171719-186206188
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:186196478..186198082-chr1:186200897..186203093,2	MCF-7	breast:
2	chr1:185967238..185968214-chr1:186181474..186182740,8	MCF-7	breast:
3	chr1:186196478..186198082-chr1:186200897..186203093,2	MCF-7	breast:
4	chr1:186124449..186125420-chr1:186181461..186182598,6	MCF-7	breast:
5	chr1:186187914..186190760-chr1:186196544..186198970,2	MCF-7	breast:
6	chr1:186096850..186099197-chr1:186175663..186177778,2	MCF-7	breast:
7	chr1:185284673..185286716-chr1:186197993..186200205,2	MCF-7	breast:
8	chr1:185782229..185782806-chr1:186181471..186182170,3	K562	blood:
9	chr1:186196248..186199242-chr1:186200494..186202096,2	K562	blood:
10	chr1:186196248..186199242-chr1:186200494..186202096,2	K562	blood:
11	chr1:185649957..185650829-chr1:186181415..186182551,4	MCF-7	breast:
12	chr1:186197416..186201292-chr1:186202438..186207046,5	K562	blood:
13	chr1:185689319..185692155-chr1:186180753..186183476,2	MCF-7	breast:
14	chr1:185782674..185783372-chr1:186181707..186182270,2	MCF-7	breast:
15	chr1:185966106..185968754-chr1:186180743..186183363,2	MCF-7	breast:
16	chr1:185689629..185690434-chr1:186181457..186182167,3	K562	blood:
17	chr1:185967197..185968048-chr1:186181571..186182366,3	MCF-7	breast:
18	chr1:186204908..186205565-chr20:39591185..39591862,2	MCF-7	breast:
19	chr1:185689440..185690198-chr1:186181442..186182506,4	MCF-7	breast:
20	chr1:186193196..186195433-chr12:120730117..120732240,2	MCF-7	breast:
21	chr1:186195416..186198253-chr1:186344477..186346582,2	K562	blood:
22	chr1:186193990..186196724-chr1:186199808..186201349,2	K562	blood:
23	chr1:185689564..185690516-chr1:186181513..186182292,3	MCF-7	breast:
24	chr1:186177265..186179469-chr1:186180273..186181904,2	MCF-7	breast:
25	chr1:186120755..186125088-chr1:186200720..186204325,6	MCF-7	breast:
26	chr1:186124564..186125385-chr1:186181815..186182420,2	K562	blood:
27	chr1:186163396..186166003-chr1:186180456..186181975,2	K562	blood:
28	chr1:186121917..186122845-chr1:186201039..186202141,3	MCF-7	breast:
29	chr1:186187914..186190760-chr1:186196544..186198970,2	MCF-7	breast:
30	chr1:186177265..186179469-chr1:186180273..186181904,2	MCF-7	breast:
31	chr1:185702828..185703339-chr1:186181550..186182148,2	MCF-7	breast:
32	chr1:186193990..186196724-chr1:186199808..186201349,2	K562	blood:
33	chr1:186048997..186051706-chr1:186197290..186199226,2	K562	blood:
34	chr1:186197416..186201292-chr1:186202438..186207046,5	K562	blood:
35	chr1:186122447..186124643-chr1:186176305..186178573,4	MCF-7	breast:
36	chr1:185782255..185783272-chr1:186181370..186182154,4	MCF-7	breast:
37	chr1:186197416..186202525-chr1:186202904..186206868,5	K562	blood:
38	chr1:186124541..186125379-chr1:186181423..186182257,5	MCF-7	breast:
39	chr1:186197416..186202525-chr1:186202904..186206868,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157181	chromatin interactions
ENSG00000047410	chromatin interactions
ENSG00000116679	chromatin interactions
ENSG00000143341	chromatin interactions
ENSG00000200795	chromatin interactions

Extended variants
information (count: 1307 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1307 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540208408	chr1:186171762-186171763	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368582906	chr1:186171794-186171795	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558560886	chr1:186171795-186171796	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117976228	chr1:186171801-186171802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34258380	chr1:186171828-186171829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145321182	chr1:186171903-186171904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147559671	chr1:186171918-186171919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531090787	chr1:186171954-186171955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549179181	chr1:186172007-186172008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554823818	chr1:186172124-186172125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561217579	chr1:186172149-186172150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574754508	chr1:186172169-186172170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371310470	chr1:186172180-186172181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571654580	chr1:186172187-186172188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538754121	chr1:186172191-186172192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189881157	chr1:186172229-186172230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75701181	chr1:186172260-186172261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536413021	chr1:186172273-186172274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182101325	chr1:186172308-186172309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566754498	chr1:186172354-186172355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141963676	chr1:186172382-186172383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532945158	chr1:186172430-186172431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1885522	chr1:186172443-186172444	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs543872531	chr1:186172463-186172464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76208098	chr1:186172474-186172475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368160458	chr1:186172483-186172484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574467696	chr1:186172524-186172525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370730552	chr1:186172571-186172572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12125922	chr1:186172600-186172601	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs560142791	chr1:186172657-186172658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540570943	chr1:186172691-186172692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189138605	chr1:186172698-186172699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532496357	chr1:186172703-186172704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs625988	chr1:186172720-186172721	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs193031600	chr1:186172788-186172789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569308737	chr1:186172791-186172792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530247849	chr1:186172817-186172818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs745278	chr1:186172843-186172844	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs566715868	chr1:186172882-186172883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35235543	chr1:186172973-186172974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558773658	chr1:186172982-186172983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185617007	chr1:186172988-186172989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs151173544	chr1:186172996-186172997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371234866	chr1:186173063-186173064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555912934	chr1:186173104-186173105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140233008	chr1:186173151-186173152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs676236	chr1:186173178-186173179	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs545447307	chr1:186173198-186173199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541564635	chr1:186173225-186173226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150450968	chr1:186173252-186173253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	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
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186161800-186182000	Weak transcription	Aorta	Aorta
2	chr1:186165200-186177200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:186169800-186173600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:186170800-186171800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:186170800-186172400	Enhancers	NHDF-Ad	bronchial
6	chr1:186171000-186171800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:186171000-186172200	Enhancers	Fetal Lung	lung
8	chr1:186171000-186172400	Enhancers	Adipose Nuclei	Adipose
9	chr1:186171200-186172000	Enhancers	NHLF	lung
10	chr1:186171400-186171800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:186171400-186176400	Weak transcription	Osteobl	bone
12	chr1:186171600-186175000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:186171600-186176400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:186171800-186172600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:186171800-186176400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:186171800-186176400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:186172000-186177000	Weak transcription	NHLF	lung
18	chr1:186172200-186175400	Weak transcription	Fetal Lung	lung
19	chr1:186172400-186175000	Weak transcription	NHDF-Ad	bronchial
20	chr1:186172400-186176400	Weak transcription	Adipose Nuclei	Adipose
21	chr1:186172600-186174400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:186173200-186173400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:186173400-186176400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:186173600-186174000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:186174000-186178400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:186174400-186174800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:186174400-186174800	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr1:186174600-186175800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr1:186174600-186176200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr1:186174800-186175600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:186174800-186175600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:186174800-186175600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr1:186174800-186175800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr1:186174800-186176000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:186174800-186176000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
36	chr1:186174800-186176200	Enhancers	Primary T cells from cord blood	blood
37	chr1:186174800-186176400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr1:186175000-186175400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr1:186175000-186175400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr1:186175000-186175400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:186175000-186175400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr1:186175000-186175400	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr1:186175000-186175400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:186175000-186175400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:186175000-186175400	Bivalent Enhancer	Fetal Thymus	thymus
46	chr1:186175000-186175400	Enhancers	NHDF-Ad	bronchial
47	chr1:186175000-186175600	Enhancers	H9 Cell Line	embryonic stem cell
48	chr1:186175000-186175800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:186175000-186175800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr1:186175000-186176200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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