Variant report

Variant	nsv5088
Chromosome Location	chr1:242620069-242665251
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:3)
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	chr1:242617811..242618559-chr1:242630673..242631426,2	MCF-7	breast:
2	chr1:242616929..242619643-chr1:242629672..242631653,2	K562	blood:
3	chr1:242626775..242629510-chr1:242632318..242634678,2	K562	blood:
4	chr1:242626775..242629510-chr1:242632318..242634678,2	K562	blood:
5	chr1:242182892..242183793-chr1:242638283..242638859,2	MCF-7	breast:
6	chr1:242630619..242631512-chr1:244436093..244436950,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAP1LC3C-3	chr1:242652877-242653660	NONHSAT010568
2	lnc-MAP1LC3C-4	chr1:242654836-242655140	expReg_chr1_22645_-
3	lnc-MAP1LC3C-3	chr1:242654490-242654577	NONHSAT010568

No data

Extended variants
information (count: 1955 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1955 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186323912	chr1:242620091-242620092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74150721	chr1:242620140-242620141	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs61839809	chr1:242620178-242620179	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs539184953	chr1:242620181-242620182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556205891	chr1:242620217-242620218	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs569589117	chr1:242620266-242620267	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs535425946	chr1:242620271-242620272	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs554895412	chr1:242620307-242620308	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs565086642	chr1:242620367-242620368	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs75623525	chr1:242620371-242620372	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs540893317	chr1:242620378-242620379	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs370462371	chr1:242620390-242620391	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs374823458	chr1:242620394-242620395	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs140995301	chr1:242620410-242620411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577746179	chr1:242620443-242620444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116709206	chr1:242620451-242620452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563795915	chr1:242620457-242620458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6700801	chr1:242620466-242620467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543048087	chr1:242620472-242620473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559744955	chr1:242620507-242620508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528812643	chr1:242620521-242620522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149786057	chr1:242620536-242620537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145837871	chr1:242620540-242620541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2654866	chr1:242620551-242620552	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs370885957	chr1:242620561-242620562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114931938	chr1:242620575-242620576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569734783	chr1:242620629-242620630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189549853	chr1:242620665-242620666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374492073	chr1:242620748-242620749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554958614	chr1:242620804-242620805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2654865	chr1:242620821-242620822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs534630265	chr1:242620842-242620843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557614578	chr1:242620843-242620844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115806817	chr1:242620856-242620857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111666989	chr1:242620957-242620958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556833302	chr1:242620971-242620972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574091049	chr1:242620988-242620989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77839222	chr1:242620989-242620990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10926745	chr1:242621027-242621028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs536799597	chr1:242621028-242621029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145911526	chr1:242621045-242621046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371435345	chr1:242621054-242621055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551162977	chr1:242621065-242621066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567722667	chr1:242621078-242621079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78678639	chr1:242621098-242621099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542322154	chr1:242621116-242621117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2654864	chr1:242621126-242621127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565372308	chr1:242621131-242621132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534309703	chr1:242621194-242621195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180797171	chr1:242621202-242621203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	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
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242611000-242632200	Weak transcription	HMEC	breast
2	chr1:242613200-242621600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:242613400-242640400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:242615600-242635400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:242616200-242651400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:242618400-242620600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:242619600-242623000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:242619600-242623600	Weak transcription	Placenta	Placenta
9	chr1:242619800-242620400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr1:242620000-242620200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:242620200-242620400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:242623000-242624400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:242623600-242624400	Enhancers	Placenta	Placenta
14	chr1:242630800-242631200	Enhancers	Brain Substantia Nigra	brain
15	chr1:242630800-242632400	Enhancers	Fetal Kidney	kidney
16	chr1:242631000-242632800	Enhancers	A549	lung
17	chr1:242631400-242632400	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr1:242632000-242632400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:242632200-242632400	Enhancers	HMEC	breast
20	chr1:242635400-242635800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:242635800-242640600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:242640400-242641200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:242640600-242641000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:242640800-242641000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:242640800-242641000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:242640800-242641400	Enhancers	Fetal Lung	lung
27	chr1:242640800-242641800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr1:242640800-242641800	Enhancers	Right Ventricle	heart
29	chr1:242641000-242641800	Enhancers	Aorta	Aorta
30	chr1:242641000-242644400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:242641000-242653200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:242641200-242641800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:242641200-242660200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:242641800-242663000	Weak transcription	Aorta	Aorta
35	chr1:242644400-242645400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:242645400-242655400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:242651400-242655000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:242652200-242653800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr1:242652400-242654400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr1:242652400-242654600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr1:242652400-242654800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr1:242652600-242653200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:242652600-242654400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr1:242652800-242653600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr1:242653000-242653600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr1:242653000-242653600	Enhancers	H9 Cell Line	embryonic stem cell
47	chr1:242653200-242654200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr1:242653200-242654400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:242653200-242654600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:242653800-242658000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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