Variant report

Variant	nsv1002511
Chromosome Location	chr1:179077914-179089842
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:179072158..179075284-chr1:179075510..179079564,3	K562	blood:
2	chr1:179075971..179079448-chr1:179095385..179098448,3	MCF-7	breast:
3	chr1:179068921..179071755-chr1:179084972..179086575,2	MCF-7	breast:
4	chr1:179089774..179090886-chr1:179162674..179163404,6	MCF-7	breast:
5	chr1:179076910..179079284-chr1:179198246..179199941,2	MCF-7	breast:
6	chr1:179087656..179089573-chr1:179206533..179209251,2	K562	blood:
7	chr1:179074516..179077030-chr1:179084166..179086204,2	K562	blood:
8	chr1:179089527..179090473-chr1:179261292..179262134,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ABL2	hsa-miR-103a-3p	chr1:179079908-179079931

Variant related genes	Relation type
ENSG00000143322	chromatin interactions

Extended variants
information (count: 547 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:547 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376953453	chr1:179078008-179078009	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs371588734	chr1:179078027-179078028	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573096158	chr1:179078046-179078047	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs55892721	chr1:179078052-179078053	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs140267087	chr1:179078121-179078122	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs202245355	chr1:179078128-179078129	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs147435995	chr1:179078138-179078139	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs377370937	chr1:179078139-179078140	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs147272038	chr1:179078164-179078165	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs78418476	chr1:179078166-179078167	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs370478893	chr1:179078177-179078178	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564629424	chr1:179078178-179078179	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs533319298	chr1:179078197-179078198	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs148512062	chr1:179078208-179078209	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs144460998	chr1:179078209-179078210	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs28913888	chr1:179078212-179078213	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375297888	chr1:179078239-179078240	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570913241	chr1:179078243-179078244	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs560562174	chr1:179078262-179078263	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs529353106	chr1:179078265-179078266	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368112502	chr1:179078272-179078273	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs373382925	chr1:179078277-179078278	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs143839622	chr1:179078285-179078286	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs549539427	chr1:179078289-179078290	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs150953979	chr1:179078315-179078316	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs386352273	chr1:179078317-179078318	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs28913887	chr1:179078344-179078345	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs200298510	chr1:179078345-179078346	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs146997813	chr1:179078353-179078354	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs374429546	chr1:179078385-179078386	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs138240636	chr1:179078404-179078405	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs144066805	chr1:179078409-179078410	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs141450341	chr1:179078412-179078413	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs199575608	chr1:179078441-179078442	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs144233543	chr1:179078476-179078477	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs368604510	chr1:179078517-179078518	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs375901983	chr1:179078528-179078529	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs28913886	chr1:179078591-179078592	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs376379800	chr1:179078598-179078599	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370990725	chr1:179078618-179078619	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs535936615	chr1:179078638-179078639	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs16853675	chr1:179078641-179078642	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs575386687	chr1:179078676-179078677	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs78611036	chr1:179078687-179078688	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs184303195	chr1:179078699-179078700	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs578169864	chr1:179078737-179078738	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs28913885	chr1:179078756-179078757	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs560277121	chr1:179078791-179078792	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs529352593	chr1:179078823-179078824	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs568722197	chr1:179078830-179078831	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179053200-179096000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:179054000-179079400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:179059200-179096400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:179059400-179090400	Strong transcription	HUVEC	blood vessel
5	chr1:179061400-179090400	Strong transcription	HSMM	muscle
6	chr1:179062000-179088000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:179063200-179112000	Weak transcription	Fetal Kidney	kidney
8	chr1:179064200-179078200	Weak transcription	Right Ventricle	heart
9	chr1:179064800-179079200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:179064800-179097800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:179065000-179078000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr1:179069400-179080400	Strong transcription	HMEC	breast
13	chr1:179070400-179087200	Weak transcription	Psoas Muscle	Psoas
14	chr1:179071400-179090400	Strong transcription	NHDF-Ad	bronchial
15	chr1:179072000-179090400	Strong transcription	Osteobl	bone
16	chr1:179072200-179090000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:179074200-179088200	Strong transcription	NHEK	skin
18	chr1:179074200-179091000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:179074400-179088200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:179074600-179083000	Strong transcription	Primary T cells from cord blood	blood
21	chr1:179074800-179078000	Weak transcription	Fetal Brain Male	brain
22	chr1:179075200-179091200	Strong transcription	NHLF	lung
23	chr1:179075400-179080000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:179075400-179084200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:179075400-179091000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:179075400-179091400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:179075400-179096200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:179075600-179078000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:179075600-179078000	Genic enhancers	HSMMtube	muscle
30	chr1:179075600-179080000	Strong transcription	Hela-S3	cervix
31	chr1:179075600-179080200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr1:179075600-179081000	Strong transcription	Fetal Brain Female	brain
33	chr1:179075600-179081800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:179075600-179082000	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:179075600-179082200	Strong transcription	Placenta	Placenta
36	chr1:179075600-179082800	Strong transcription	Stomach Smooth Muscle	stomach
37	chr1:179075600-179084000	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr1:179075600-179089200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:179075800-179080000	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr1:179075800-179081000	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr1:179075800-179081600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr1:179075800-179082400	Strong transcription	Brain Angular Gyrus	brain
43	chr1:179075800-179082400	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:179075800-179082800	Strong transcription	Fetal Intestine Large	intestine
45	chr1:179075800-179082800	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr1:179075800-179083600	Strong transcription	Lung	lung
47	chr1:179075800-179084600	Strong transcription	A549	lung
48	chr1:179075800-179089600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:179076000-179078600	Enhancers	Fetal Heart	heart
50	chr1:179076000-179080000	Strong transcription	Brain Anterior Caudate	brain

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