Variant report

Variant	esv3329279
Chromosome Location	chr1:179071439-179071806
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:179066044..179068422-chr1:179070737..179074514,3	MCF-7	breast:
2	chr1:179067699..179070036-chr1:179070738..179073040,2	K562	blood:
3	chr1:179068921..179071755-chr1:179084972..179086575,2	MCF-7	breast:
4	chr1:179049365..179054950-chr1:179071341..179075985,8	MCF-7	breast:
5	chr1:179049441..179051966-chr1:179070230..179071868,2	MCF-7	breast:
6	chr1:179064364..179066399-chr1:179070146..179072689,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TOR3A-1	chr1:179071526-179074885	ENSG00000228449.1
2	lnc-ANGPTL1-5	chr1:179071523-179074885	NONHSAT007847

No data

Variant related genes	Relation type
ENSG00000186283	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533389720	chr1:179071472-179071473	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs559551325	chr1:179071482-179071483	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs367803287	chr1:179071498-179071499	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs139185338	chr1:179071554-179071555	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs535394578	chr1:179071593-179071594	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs560625070	chr1:179071626-179071627	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs529245096	chr1:179071684-179071685	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs549122723	chr1:179071691-179071692	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs192732952	chr1:179071715-179071716	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs184192725	chr1:179071730-179071731	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs551941773	chr1:179071747-179071748	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs1325195	chr1:179071756-179071757	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
13	rs534027820	chr1:179071771-179071772	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs149984339	chr1:179071783-179071784	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs115727481	chr1:179071792-179071793	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs375041123	chr1:179071803-179071804	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	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:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179053000-179072200	Strong transcription	Primary T cells from cord blood	blood
2	chr1:179053200-179096000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:179053800-179074600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:179054000-179074800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:179054000-179077200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:179054000-179079400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:179054800-179072200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:179057200-179076800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:179059200-179096400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:179059400-179090400	Strong transcription	HUVEC	blood vessel
11	chr1:179061400-179071600	Weak transcription	Fetal Heart	heart
12	chr1:179061400-179090400	Strong transcription	HSMM	muscle
13	chr1:179061600-179072400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:179061600-179075200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:179061600-179075600	Strong transcription	HSMMtube	muscle
16	chr1:179061600-179076400	Weak transcription	Right Atrium	heart
17	chr1:179061600-179076600	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr1:179062000-179088000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:179062400-179075600	Strong transcription	NH-A	brain
20	chr1:179063200-179112000	Weak transcription	Fetal Kidney	kidney
21	chr1:179063400-179077000	Weak transcription	Stomach Mucosa	stomach
22	chr1:179064200-179078200	Weak transcription	Right Ventricle	heart
23	chr1:179064600-179077200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:179064800-179075800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr1:179064800-179077000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:179064800-179079200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:179064800-179097800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:179065000-179075800	Weak transcription	Brain Angular Gyrus	brain
29	chr1:179065000-179077400	Weak transcription	Colonic Mucosa	Colon
30	chr1:179065000-179078000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr1:179065400-179073800	Strong transcription	NHLF	lung
32	chr1:179065400-179076200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:179065400-179076200	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:179065400-179076800	Weak transcription	Small Intestine	intestine
35	chr1:179065600-179074000	Weak transcription	Fetal Lung	lung
36	chr1:179065600-179075800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:179065800-179076400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:179066400-179076200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:179066400-179076800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:179066400-179077200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:179066600-179072600	Weak transcription	Liver	Liver
42	chr1:179066600-179072800	Weak transcription	Left Ventricle	heart
43	chr1:179066600-179074000	Weak transcription	Fetal Brain Male	brain
44	chr1:179066600-179075800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr1:179066600-179076200	Weak transcription	Brain Substantia Nigra	brain
46	chr1:179066600-179076400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr1:179066600-179076400	Weak transcription	Gastric	stomach
48	chr1:179066600-179076400	Weak transcription	Pancreas	Pancrea
49	chr1:179066600-179076400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:179066600-179076400	Weak transcription	Spleen	Spleen

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