Variant report

Variant	nsv516212
Chromosome Location	chr1:71421564-71468493
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:13)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:71440403..71443013-chr1:71443324..71446288,2	K562	blood:
2	chr1:71442791..71448002-chr1:71448870..71452211,5	K562	blood:
3	chr1:71443738..71447073-chr1:71448870..71451609,5	K562	blood:
4	chr1:71423003..71424991-chr1:71446277..71448535,2	K562	blood:
5	chr1:70975940..70976451-chr1:71428828..71429462,2	MCF-7	breast:
6	chr1:71440403..71443013-chr1:71443324..71446288,2	K562	blood:
7	chr1:71150765..71151639-chr1:71429287..71429792,2	MCF-7	breast:
8	chr1:71467023..71468927-chr1:71512007..71514052,2	K562	blood:
9	chr1:71427617..71429337-chr1:71437684..71440303,2	K562	blood:
10	chr1:71443738..71447073-chr1:71448870..71451609,5	K562	blood:
11	chr1:71423003..71424991-chr1:71446277..71448535,2	K562	blood:
12	chr1:71427617..71429337-chr1:71437684..71440303,2	K562	blood:
13	chr1:71442791..71448002-chr1:71448870..71452211,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTH-14	chr1:71461328-71461385	l_71_chr1:71319635-71475982_testes
2	lnc-CTH-12	chr1:71426588-71426941	NONHSAT003873
3	lnc-CTH-12	chr1:71430529-71431707	NONHSAT003873

No data

Variant related genes	Relation type
ENSG00000050628	chromatin interactions

Extended variants
information (count: 1821 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1821 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs661000	chr1:71421564-71421565	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564170919	chr1:71421575-71421576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148310483	chr1:71421624-71421625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540218146	chr1:71421657-71421658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559860595	chr1:71421757-71421758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528905960	chr1:71421759-71421760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186674650	chr1:71421807-71421808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372113538	chr1:71421809-71421810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188837141	chr1:71421825-71421826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141401206	chr1:71421832-71421833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531391948	chr1:71421871-71421872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551209328	chr1:71421941-71421942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570588838	chr1:71421967-71421968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539576991	chr1:71421972-71421973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546681757	chr1:71421995-71421996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200222871	chr1:71422062-71422063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59674948	chr1:71422072-71422073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397789563	chr1:71422073-71422074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181926152	chr1:71422155-71422156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535854305	chr1:71422214-71422215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544819930	chr1:71422233-71422234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186103041	chr1:71422287-71422288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189728689	chr1:71422299-71422300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs367749127	chr1:71422317-71422318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78080081	chr1:71422385-71422386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566918667	chr1:71422424-71422425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150860310	chr1:71422427-71422428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12569051	chr1:71422435-71422436	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs11209722	chr1:71422452-71422453	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs182562527	chr1:71422454-71422455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138227385	chr1:71422456-71422457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573515834	chr1:71422463-71422464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542646358	chr1:71422478-71422479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562439703	chr1:71422484-71422485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186728584	chr1:71422539-71422540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75844400	chr1:71422570-71422571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551143531	chr1:71422597-71422598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564700987	chr1:71422610-71422611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561425187	chr1:71422673-71422674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114021832	chr1:71422691-71422692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566996985	chr1:71422692-71422693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535479631	chr1:71422735-71422736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549389024	chr1:71422765-71422766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569558876	chr1:71422771-71422772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191091787	chr1:71422783-71422784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558511510	chr1:71422803-71422804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183158227	chr1:71422815-71422816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538475542	chr1:71422824-71422825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369941861	chr1:71422853-71422854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555236055	chr1:71423018-71423019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71415800-71422200	Weak transcription	Adipose Nuclei	Adipose
2	chr1:71421400-71422800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:71422200-71422600	Enhancers	Adipose Nuclei	Adipose
4	chr1:71422600-71429600	Weak transcription	Adipose Nuclei	Adipose
5	chr1:71422800-71423600	Enhancers	Fetal Heart	heart
6	chr1:71422800-71425800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:71423400-71423800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr1:71425800-71426000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:71426000-71436800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:71429600-71430200	Enhancers	Adipose Nuclei	Adipose
11	chr1:71430200-71444200	Weak transcription	Adipose Nuclei	Adipose
12	chr1:71433600-71433800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr1:71436800-71437000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:71438600-71440600	Enhancers	Fetal Brain Male	brain
15	chr1:71440200-71440400	Enhancers	Fetal Brain Female	brain
16	chr1:71440600-71441600	Weak transcription	Fetal Brain Male	brain
17	chr1:71440800-71441800	Weak transcription	Fetal Brain Female	brain
18	chr1:71441600-71444800	Enhancers	Fetal Brain Male	brain
19	chr1:71441800-71442400	Enhancers	Fetal Brain Female	brain
20	chr1:71443000-71443200	Enhancers	Gastric	stomach
21	chr1:71443000-71443600	Enhancers	Pancreas	Pancrea
22	chr1:71443200-71456800	Weak transcription	Gastric	stomach
23	chr1:71443600-71446000	Weak transcription	Pancreas	Pancrea
24	chr1:71444000-71444600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr1:71444000-71445600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:71444200-71444600	Enhancers	Fetal Heart	heart
27	chr1:71444200-71446200	Enhancers	Primary hematopoietic stem cells	blood
28	chr1:71444200-71446600	Enhancers	Adipose Nuclei	Adipose
29	chr1:71444200-71447000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr1:71444400-71444600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:71444400-71444800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:71444400-71445400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr1:71444600-71445200	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr1:71444600-71446000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:71444600-71446600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr1:71444800-71445600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:71445000-71446200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr1:71445200-71445400	Enhancers	Colon Smooth Muscle	Colon
39	chr1:71445200-71446200	Enhancers	K562	blood
40	chr1:71445200-71464200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr1:71445600-71446200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:71446000-71446200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:71446000-71446200	Enhancers	Colon Smooth Muscle	Colon
44	chr1:71446000-71446600	Enhancers	H9 Cell Line	embryonic stem cell
45	chr1:71446000-71446600	Enhancers	Pancreas	Pancrea
46	chr1:71446200-71450600	Weak transcription	K562	blood
47	chr1:71446600-71447200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr1:71446600-71449200	Weak transcription	Adipose Nuclei	Adipose
49	chr1:71446600-71456200	Weak transcription	Pancreas	Pancrea
50	chr1:71447400-71448200	Enhancers	Aorta	Aorta

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