Variant report

Variant	nsv1014878
Chromosome Location	chr1:215453286-215527616
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:215460715..215462966-chr1:215464871..215466869,2	MCF-7	breast:
2	chr1:215485891..215487601-chr1:215497785..215499384,2	MCF-7	breast:
3	chr1:215500545..215503507-chr1:215504494..215507015,2	K562	blood:
4	chr1:215450051..215452681-chr1:215452768..215455001,4	MCF-7	breast:
5	chr1:215466390..215468669-chr1:215468824..215471821,2	K562	blood:
6	chr1:215460715..215462966-chr1:215464871..215466869,2	MCF-7	breast:
7	chr1:215451191..215452899-chr1:215457421..215459243,2	K562	blood:
8	chr1:215458655..215460493-chr1:215462195..215463756,2	MCF-7	breast:
9	chr1:215458655..215460493-chr1:215462195..215463756,2	MCF-7	breast:
10	chr1:215507541..215509380-chr1:215510952..215512628,2	K562	blood:
11	chr1:215466390..215468669-chr1:215468824..215471821,2	K562	blood:
12	chr1:215507541..215509380-chr1:215510952..215512628,2	K562	blood:
13	chr1:215500545..215503507-chr1:215504494..215507015,2	K562	blood:
14	chr1:215485891..215487601-chr1:215497785..215499384,2	MCF-7	breast:

No data

Extended variants
information (count: 1418 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1418 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1339400	chr1:215453286-215453287	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs142354947	chr1:215453291-215453292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566109412	chr1:215453312-215453313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150863846	chr1:215453329-215453330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540548784	chr1:215453354-215453355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77388167	chr1:215453408-215453409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187359129	chr1:215453410-215453411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567597195	chr1:215453478-215453479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537128701	chr1:215453483-215453484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188922284	chr1:215453495-215453496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181559029	chr1:215453496-215453497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79883595	chr1:215453519-215453520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536596041	chr1:215453522-215453523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185306052	chr1:215453536-215453537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534600254	chr1:215453553-215453554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573444650	chr1:215453559-215453560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190163312	chr1:215453640-215453641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61819717	chr1:215453642-215453643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs17024624	chr1:215453659-215453660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs543528156	chr1:215453690-215453691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563513649	chr1:215453704-215453705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139160016	chr1:215453712-215453713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369504371	chr1:215453713-215453714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143358291	chr1:215453714-215453715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201350508	chr1:215453715-215453716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529093961	chr1:215453726-215453727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549150375	chr1:215453751-215453752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76877858	chr1:215453760-215453761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77369121	chr1:215453776-215453777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375223877	chr1:215453794-215453795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571603418	chr1:215453879-215453880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182447971	chr1:215453896-215453897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369597017	chr1:215453955-215453956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550658977	chr1:215454017-215454018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1339399	chr1:215454081-215454082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs150645050	chr1:215454115-215454116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376161089	chr1:215454170-215454171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536459011	chr1:215454209-215454210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112824360	chr1:215454217-215454218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551372664	chr1:215454219-215454220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372081031	chr1:215454241-215454242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553498721	chr1:215454255-215454256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573479809	chr1:215454256-215454257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1339398	chr1:215454262-215454263	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs373970113	chr1:215454282-215454283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557502894	chr1:215454304-215454305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75265361	chr1:215454316-215454317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185984758	chr1:215454341-215454342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190909599	chr1:215454343-215454344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184010800	chr1:215454349-215454350	Weak transcription	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
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
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	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
Basal cell lymphoma	17170743	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
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215451600-215455600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:215451600-215458200	Weak transcription	Fetal Lung	lung
3	chr1:215451600-215458400	Weak transcription	NHDF-Ad	bronchial
4	chr1:215451800-215455600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:215453000-215453400	Enhancers	HUVEC	blood vessel
6	chr1:215453400-215454400	Weak transcription	HUVEC	blood vessel
7	chr1:215454400-215456600	Enhancers	HUVEC	blood vessel
8	chr1:215454800-215456200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:215455600-215456000	Enhancers	NHEK	skin
10	chr1:215455600-215456200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:215455600-215456400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:215455800-215456200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:215458200-215459200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:215458400-215458800	Enhancers	HSMM	muscle
15	chr1:215458400-215458800	Enhancers	NHDF-Ad	bronchial
16	chr1:215458800-215460600	Weak transcription	NHDF-Ad	bronchial
17	chr1:215458800-215463200	Weak transcription	HSMM	muscle
18	chr1:215460200-215461200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr1:215460600-215461200	Enhancers	NHDF-Ad	bronchial
20	chr1:215461200-215463200	Weak transcription	NHDF-Ad	bronchial
21	chr1:215463000-215464000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:215463000-215464000	Enhancers	Osteobl	bone
23	chr1:215463000-215464200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:215463200-215463800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:215463200-215464000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:215463200-215464000	Enhancers	HSMM	muscle
27	chr1:215463200-215464200	Enhancers	NHDF-Ad	bronchial
28	chr1:215463600-215464000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:215463600-215464000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:215464000-215465800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:215466000-215466200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:215477800-215479000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr1:215494800-215496600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:215495200-215495600	Enhancers	Osteobl	bone
35	chr1:215495200-215495800	Enhancers	Placenta Amnion	Placenta Amnion
36	chr1:215495200-215495800	Enhancers	NHDF-Ad	bronchial
37	chr1:215495400-215496200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:215496200-215497000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:215497000-215497400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:215497000-215497600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:215497000-215498200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:215497600-215498000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:215498600-215499400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:215499400-215504000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:215504000-215504400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:215504400-215506200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:215506200-215507800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:215517200-215519200	Enhancers	Adipose Nuclei	Adipose
49	chr1:215517200-215519400	Enhancers	Fetal Lung	lung
50	chr1:215517400-215519600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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