Variant report

Variant	nsv1014133
Chromosome Location	chr1:186181646-186206188
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 926 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:926 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12408916	chr1:186181646-186181647	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs180933409	chr1:186181735-186181736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575658948	chr1:186181738-186181739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12408923	chr1:186181765-186181766	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs554102812	chr1:186181770-186181771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572458733	chr1:186181786-186181787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537276944	chr1:186181848-186181849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191699661	chr1:186181889-186181890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530755683	chr1:186181907-186181908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557826945	chr1:186181947-186181948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532097927	chr1:186181986-186181987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367941078	chr1:186181989-186181990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558855335	chr1:186181992-186181993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35325691	chr1:186182019-186182020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35600580	chr1:186182024-186182025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72079426	chr1:186182025-186182026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186233974	chr1:186182027-186182028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189639968	chr1:186182042-186182043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540683601	chr1:186182048-186182049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559258376	chr1:186182064-186182065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545682383	chr1:186182089-186182090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532886286	chr1:186182102-186182103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6666859	chr1:186182156-186182157	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs149891862	chr1:186182169-186182170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563079337	chr1:186182171-186182172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531972762	chr1:186182215-186182216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145268873	chr1:186182218-186182219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572686773	chr1:186182241-186182242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182032797	chr1:186182246-186182247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568786912	chr1:186182251-186182252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34085111	chr1:186182269-186182270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186221562	chr1:186182299-186182300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151266727	chr1:186182342-186182343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146459586	chr1:186182363-186182364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6656607	chr1:186182364-186182365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566113253	chr1:186182370-186182371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6656441	chr1:186182382-186182383	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs557863953	chr1:186182389-186182390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576104558	chr1:186182493-186182494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561651214	chr1:186182494-186182495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190542575	chr1:186182520-186182521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555106468	chr1:186182534-186182535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146241463	chr1:186182563-186182564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573860153	chr1:186182571-186182572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6656820	chr1:186182575-186182576	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs6656648	chr1:186182587-186182588	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs6656651	chr1:186182601-186182602	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs61829759	chr1:186182615-186182616	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs113497203	chr1:186182642-186182643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563396634	chr1:186182652-186182653	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186161800-186182000	Weak transcription	Aorta	Aorta
2	chr1:186178000-186182200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:186178200-186182800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:186178400-186182000	Weak transcription	NHLF	lung
5	chr1:186178400-186183000	Weak transcription	NHEK	skin
6	chr1:186181400-186181800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr1:186181400-186181800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:186181400-186182000	Enhancers	HUVEC	blood vessel
9	chr1:186181600-186181800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:186181600-186181800	Enhancers	Adipose Nuclei	Adipose
11	chr1:186181600-186182000	Enhancers	Fetal Lung	lung
12	chr1:186181600-186182200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:186181600-186182200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:186181600-186182200	Enhancers	A549	lung
15	chr1:186181600-186182200	Enhancers	NHDF-Ad	bronchial
16	chr1:186181600-186183600	Enhancers	HMEC	breast
17	chr1:186181600-186184600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:186182000-186182200	Enhancers	Aorta	Aorta
19	chr1:186182000-186182400	Enhancers	NHLF	lung
20	chr1:186182200-186182600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:186182400-186183600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:186182600-186182800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:186182800-186183400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:186182800-186183600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:186183000-186183400	Enhancers	NHEK	skin
26	chr1:186184600-186189000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:186187800-186188800	Enhancers	Primary B cells from peripheral blood	blood
28	chr1:186188600-186189400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:186188600-186189600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:186188800-186190200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:186189000-186189600	Enhancers	NH-A	brain
32	chr1:186189000-186189800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:186190800-186191200	Enhancers	Placenta	Placenta
34	chr1:186191000-186191400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:186191000-186191600	Enhancers	Hela-S3	cervix
36	chr1:186191200-186191600	Enhancers	Lung	lung
37	chr1:186191600-186194400	Weak transcription	Hela-S3	cervix
38	chr1:186193200-186193800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr1:186194400-186194800	Enhancers	Hela-S3	cervix
40	chr1:186197000-186201400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:186198200-186200000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:186200000-186200400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:186200400-186202400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:186200600-186201600	Enhancers	Placenta Amnion	Placenta Amnion
45	chr1:186201000-186201800	Enhancers	NHDF-Ad	bronchial
46	chr1:186201200-186201600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr1:186201400-186202000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:186201400-186202200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:186201600-186204800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr1:186201600-186205600	Weak transcription	Muscle Satellite Cultured Cells	--

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