Variant report

Variant	nsv1010055
Chromosome Location	chr1:186167933-186216740
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:46)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:186196478..186198082-chr1:186200897..186203093,2	MCF-7	breast:
2	chr1:186197416..186201292-chr1:186202438..186207046,5	K562	blood:
3	chr1:186197416..186202525-chr1:186202904..186206868,5	K562	blood:
4	chr1:186196248..186199242-chr1:186200494..186202096,2	K562	blood:
5	chr1:186122447..186124643-chr1:186176305..186178573,4	MCF-7	breast:
6	chr1:185649957..185650829-chr1:186181415..186182551,4	MCF-7	breast:
7	chr1:185284673..185286716-chr1:186197993..186200205,2	MCF-7	breast:
8	chr1:185689319..185692155-chr1:186180753..186183476,2	MCF-7	breast:
9	chr1:186096850..186099197-chr1:186175663..186177778,2	MCF-7	breast:
10	chr1:186177265..186179469-chr1:186180273..186181904,2	MCF-7	breast:
11	chr1:186196478..186198082-chr1:186200897..186203093,2	MCF-7	breast:
12	chr1:185967197..185968048-chr1:186181571..186182366,3	MCF-7	breast:
13	chr1:186156618..186158956-chr1:186211856..186214828,2	MCF-7	breast:
14	chr1:185702828..185703339-chr1:186181550..186182148,2	MCF-7	breast:
15	chr1:186124564..186125385-chr1:186181815..186182420,2	K562	blood:
16	chr1:185782229..185782806-chr1:186181471..186182170,3	K562	blood:
17	chr1:185967238..185968214-chr1:186181474..186182740,8	MCF-7	breast:
18	chr1:186048997..186051706-chr1:186197290..186199226,2	K562	blood:
19	chr1:186195416..186198253-chr1:186344477..186346582,2	K562	blood:
20	chr1:186215823..186217650-chr1:186219942..186222008,2	K562	blood:
21	chr1:186213600..186214443-chr6:94574723..94575337,2	MCF-7	breast:
22	chr1:186187914..186190760-chr1:186196544..186198970,2	MCF-7	breast:
23	chr1:185782674..185783372-chr1:186181707..186182270,2	MCF-7	breast:
24	chr1:186209219..186212126-chr1:186214924..186216938,2	MCF-7	breast:
25	chr1:186204908..186205565-chr20:39591185..39591862,2	MCF-7	breast:
26	chr1:185689440..185690198-chr1:186181442..186182506,4	MCF-7	breast:
27	chr1:186209219..186212126-chr1:186214924..186216938,2	MCF-7	breast:
28	chr1:186120755..186125088-chr1:186200720..186204325,6	MCF-7	breast:
29	chr1:186193990..186196724-chr1:186199808..186201349,2	K562	blood:
30	chr1:186193196..186195433-chr12:120730117..120732240,2	MCF-7	breast:
31	chr1:186163396..186166003-chr1:186180456..186181975,2	K562	blood:
32	chr1:186187914..186190760-chr1:186196544..186198970,2	MCF-7	breast:
33	chr1:185966106..185968754-chr1:186180743..186183363,2	MCF-7	breast:
34	chr1:186197416..186201292-chr1:186202438..186207046,5	K562	blood:
35	chr1:186177265..186179469-chr1:186180273..186181904,2	MCF-7	breast:
36	chr1:186124541..186125379-chr1:186181423..186182257,5	MCF-7	breast:
37	chr1:185782255..185783272-chr1:186181370..186182154,4	MCF-7	breast:
38	chr1:186196248..186199242-chr1:186200494..186202096,2	K562	blood:
39	chr1:186121917..186122845-chr1:186201039..186202141,3	MCF-7	breast:
40	chr1:186124449..186125420-chr1:186181461..186182598,6	MCF-7	breast:
41	chr1:185689629..185690434-chr1:186181457..186182167,3	K562	blood:
42	chr1:185689564..185690516-chr1:186181513..186182292,3	MCF-7	breast:
43	chr1:186193990..186196724-chr1:186199808..186201349,2	K562	blood:
44	chr1:186157994..186159538-chr1:186169856..186171398,2	MCF-7	breast:
45	chr1:186162031..186163745-chr1:186166331..186169038,2	MCF-7	breast:
46	chr1:186197416..186202525-chr1:186202904..186206868,5	K562	blood:

No data

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

Extended variants
information (count: 1660 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1660 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35528519	chr1:186167933-186167934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557387393	chr1:186167937-186167938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576067743	chr1:186167945-186167946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544758776	chr1:186167988-186167989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556506557	chr1:186168006-186168007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575059834	chr1:186168008-186168009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369962744	chr1:186168018-186168019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182622663	chr1:186168045-186168046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542196600	chr1:186168058-186168059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560488886	chr1:186168068-186168069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527638628	chr1:186168144-186168145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546229065	chr1:186168170-186168171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551303379	chr1:186168225-186168226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564535549	chr1:186168227-186168228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531736223	chr1:186168233-186168234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549926605	chr1:186168241-186168242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561768810	chr1:186168278-186168279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs857753	chr1:186168281-186168282	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs140058356	chr1:186168335-186168336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146926861	chr1:186168365-186168366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74134809	chr1:186168366-186168367	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554443604	chr1:186168432-186168433	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186907250	chr1:186168435-186168436	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550979984	chr1:186168508-186168509	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569710054	chr1:186168511-186168512	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76795391	chr1:186168557-186168558	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34647997	chr1:186168565-186168566	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371443228	chr1:186168575-186168576	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs137934903	chr1:186168579-186168580	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191415614	chr1:186168614-186168615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572414443	chr1:186168628-186168629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536058075	chr1:186168654-186168655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78877153	chr1:186168680-186168681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573704605	chr1:186168750-186168751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572791165	chr1:186168764-186168765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546190370	chr1:186168771-186168772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75817692	chr1:186168776-186168777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576466889	chr1:186168777-186168778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185077246	chr1:186168808-186168809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561917109	chr1:186168814-186168815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554386623	chr1:186168834-186168835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375755821	chr1:186168840-186168841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371862422	chr1:186168854-186168855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529035730	chr1:186168907-186168908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187722445	chr1:186168919-186168920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556805974	chr1:186168930-186168931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34489517	chr1:186169004-186169005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140906346	chr1:186169005-186169006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150105390	chr1:186169006-186169007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60131524	chr1:186169008-186169009	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:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186158800-186171200	Weak transcription	NHLF	lung
2	chr1:186159200-186171000	Weak transcription	Fetal Lung	lung
3	chr1:186161800-186182000	Weak transcription	Aorta	Aorta
4	chr1:186165200-186177200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:186167800-186168200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:186167800-186170600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:186168200-186168400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:186168400-186168600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:186168600-186169800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:186169800-186173600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:186170200-186171000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:186170600-186171600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:186170800-186171600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:186170800-186171800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:186170800-186172400	Enhancers	NHDF-Ad	bronchial
16	chr1:186171000-186171600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:186171000-186171800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:186171000-186172200	Enhancers	Fetal Lung	lung
19	chr1:186171000-186172400	Enhancers	Adipose Nuclei	Adipose
20	chr1:186171200-186171400	Enhancers	Osteobl	bone
21	chr1:186171200-186171600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:186171200-186172000	Enhancers	NHLF	lung
23	chr1:186171400-186171800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:186171400-186176400	Weak transcription	Osteobl	bone
25	chr1:186171600-186175000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:186171600-186176400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:186171800-186172600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:186171800-186176400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:186171800-186176400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:186172000-186177000	Weak transcription	NHLF	lung
31	chr1:186172200-186175400	Weak transcription	Fetal Lung	lung
32	chr1:186172400-186175000	Weak transcription	NHDF-Ad	bronchial
33	chr1:186172400-186176400	Weak transcription	Adipose Nuclei	Adipose
34	chr1:186172600-186174400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:186173200-186173400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:186173400-186176400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:186173600-186174000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:186174000-186178400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:186174400-186174800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:186174400-186174800	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr1:186174600-186175800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr1:186174600-186176200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr1:186174800-186175600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:186174800-186175600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:186174800-186175600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr1:186174800-186175800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr1:186174800-186176000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:186174800-186176000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
49	chr1:186174800-186176200	Enhancers	Primary T cells from cord blood	blood
50	chr1:186174800-186176400	Enhancers	Cortex derived primary cultured neurospheres	brain

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