Variant report

Variant	nsv548271
Chromosome Location	chr1:178978129-178978956
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:178974332..178978304-chr1:178979195..178983919,4	MCF-7	breast:
2	chr1:178975112..178978831-chr1:178980259..178984628,4	MCF-7	breast:
3	chr1:178971758..178974744-chr1:178976786..178978756,2	K562	blood:
4	chr1:178944582..178946148-chr1:178977340..178979414,2	K562	blood:
5	chr1:178977019..178978702-chr1:178984062..178987860,3	K562	blood:
6	chr1:178934119..178936472-chr1:178976681..178978303,2	MCF-7	breast:
7	chr1:178978287..178981942-chr1:178982197..178988679,6	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553865727	chr1:178978187-178978188	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs116033105	chr1:178978188-178978189	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs368331311	chr1:178978211-178978212	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs550613612	chr1:178978241-178978242	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs375608485	chr1:178978312-178978313	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs564159025	chr1:178978322-178978323	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs550964085	chr1:178978381-178978382	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs199832829	chr1:178978389-178978390	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs182504654	chr1:178978401-178978402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10753189	chr1:178978409-178978410	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs566137188	chr1:178978459-178978460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536506101	chr1:178978460-178978461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535254618	chr1:178978571-178978572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188127089	chr1:178978611-178978612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138171316	chr1:178978620-178978621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115922996	chr1:178978636-178978637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538384451	chr1:178978711-178978712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114984188	chr1:178978714-178978715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72707278	chr1:178978751-178978752	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs74129730	chr1:178978829-178978830	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs553478588	chr1:178978830-178978831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572932374	chr1:178978896-178978897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141322065	chr1:178978916-178978917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143284650	chr1:178978941-178978942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575634651	chr1:178978951-178978952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
Retinoblastoma	19183342	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
Chordoma	18071362	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
Trisomy 5 syndrome	21098271	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Gastric cancer	22014070	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:178972400-178986000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:178972600-178981200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:178973200-178979600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:178973400-178980200	Weak transcription	Fetal Intestine Small	intestine
5	chr1:178973400-178980200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:178973600-178983200	Weak transcription	K562	blood
7	chr1:178976600-178978600	Enhancers	Osteobl	bone
8	chr1:178977000-178985400	Weak transcription	A549	lung
9	chr1:178977000-178985600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:178977200-178979600	Weak transcription	Stomach Mucosa	stomach
11	chr1:178977200-178981600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:178977800-178978200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:178977800-178978600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:178978000-178978200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:178978000-178978200	Enhancers	HepG2	liver
16	chr1:178978000-178978400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:178978000-178978400	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr1:178978000-178978600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:178978000-178978600	Enhancers	Adipose Nuclei	Adipose
20	chr1:178978000-178978600	Enhancers	Psoas Muscle	Psoas
21	chr1:178978000-178978800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr1:178978200-178978600	Enhancers	Aorta	Aorta
23	chr1:178978200-178978600	Enhancers	Right Atrium	heart
24	chr1:178978200-178978600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr1:178978200-178984600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:178978200-178986000	Weak transcription	HepG2	liver
27	chr1:178978400-178979400	Enhancers	Stomach Smooth Muscle	stomach
28	chr1:178978400-178981400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:178978600-178980800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:178978600-178981200	Weak transcription	Adipose Nuclei	Adipose
31	chr1:178978600-178986000	Weak transcription	Right Atrium	heart
32	chr1:178978600-178991000	Weak transcription	Aorta	Aorta
33	chr1:178978600-178991200	Weak transcription	Psoas Muscle	Psoas
34	chr1:178978800-178981400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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