Variant report

Variant	nsv527722
Chromosome Location	chr1:69212053-69323222
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:69065409..69066299-chr1:69284839..69285772,2	MCF-7	breast:
2	chr1:69210547..69212244-chr1:69212778..69215593,2	K562	blood:
3	chr1:69248404..69248919-chr1:70166513..70167083,2	MCF-7	breast:
4	chr1:69252832..69255226-chr1:69258426..69260513,2	K562	blood:
5	chr1:69285131..69285807-chr1:69481877..69482778,2	MCF-7	breast:
6	chr1:69252832..69255226-chr1:69258426..69260513,2	K562	blood:
7	chr1:69210547..69212244-chr1:69212778..69215593,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC7-7	chr1:69294169-69294318	NONHSAT003828

No data

Extended variants
information (count: 1524 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1524 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7512842	chr1:69212053-69212054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577138993	chr1:69212065-69212066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536467224	chr1:69212097-69212098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540977318	chr1:69212157-69212158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556432736	chr1:69212160-69212161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570335353	chr1:69212162-69212163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538953068	chr1:69212225-69212226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369047527	chr1:69212237-69212238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558939622	chr1:69212239-69212240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371323422	chr1:69212271-69212272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541405815	chr1:69212298-69212299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112134844	chr1:69212312-69212313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187078682	chr1:69212351-69212352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542817831	chr1:69212384-69212385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562534540	chr1:69212398-69212399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531680980	chr1:69212457-69212458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544950502	chr1:69212476-69212477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564927335	chr1:69212487-69212488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191979260	chr1:69212514-69212515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546960232	chr1:69212529-69212530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143876485	chr1:69212574-69212575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147271931	chr1:69212676-69212677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550388547	chr1:69212691-69212692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570129473	chr1:69212694-69212695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182906781	chr1:69212719-69212720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368688725	chr1:69212751-69212752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574864809	chr1:69212774-69212775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559003695	chr1:69212810-69212811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113813983	chr1:69212819-69212820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535023010	chr1:69212830-69212831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554965262	chr1:69212887-69212888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187717136	chr1:69212975-69212976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537147854	chr1:69212976-69212977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1388654	chr1:69213015-69213016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs113355539	chr1:69213061-69213062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375039553	chr1:69213085-69213086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193145595	chr1:69213115-69213116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564855560	chr1:69213187-69213188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11806899	chr1:69213206-69213207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs143125532	chr1:69213229-69213230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150870456	chr1:69213262-69213263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564327308	chr1:69213281-69213282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184360867	chr1:69213286-69213287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528405513	chr1:69213330-69213331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61783003	chr1:69213362-69213363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189300531	chr1:69213405-69213406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532619251	chr1:69213430-69213431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75212648	chr1:69213441-69213442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552691615	chr1:69213465-69213466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566389072	chr1:69213487-69213488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Malignant fibrous histiocytomas	21085701	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
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Retinoblastoma	21504564	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:69211800-69214200	Weak transcription	Fetal Brain Male	brain
2	chr1:69218200-69218600	Enhancers	Colon Smooth Muscle	Colon
3	chr1:69218400-69218800	Enhancers	Rectal Smooth Muscle	rectum
4	chr1:69218600-69219000	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr1:69224400-69224800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:69225200-69225400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:69239000-69239200	Enhancers	Adipose Nuclei	Adipose
8	chr1:69241000-69242200	Enhancers	Adipose Nuclei	Adipose
9	chr1:69242800-69244000	Enhancers	Fetal Heart	heart
10	chr1:69242800-69244800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:69242800-69245000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:69243000-69244400	Enhancers	Rectal Smooth Muscle	rectum
13	chr1:69243000-69245200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:69243200-69245000	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:69243800-69244800	Enhancers	Fetal Lung	lung
16	chr1:69245200-69245400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:69248200-69248600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:69253600-69254800	Enhancers	Dnd41	blood
19	chr1:69254000-69254800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:69254000-69254800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:69254200-69254800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr1:69261400-69263400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:69261600-69262200	Enhancers	Adipose Nuclei	Adipose
24	chr1:69261600-69262400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:69261600-69263000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr1:69261800-69262600	Enhancers	Brain Germinal Matrix	brain
27	chr1:69261800-69267800	Enhancers	Liver	Liver
28	chr1:69262000-69262200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:69262200-69262600	Weak transcription	Adipose Nuclei	Adipose
30	chr1:69262600-69263800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:69262600-69266000	Enhancers	Adipose Nuclei	Adipose
32	chr1:69262800-69266200	Enhancers	Ovary	ovary
33	chr1:69263000-69266000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:69263400-69263800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:69263800-69264000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:69263800-69266200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:69264000-69265200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:69264800-69265800	Enhancers	Fetal Lung	lung
39	chr1:69265200-69266000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:69265400-69266600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:69265600-69266600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:69273800-69274200	Enhancers	Brain Anterior Caudate	brain
43	chr1:69273800-69274400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:69273800-69275000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:69273800-69275000	Enhancers	Fetal Lung	lung
46	chr1:69273800-69275400	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr1:69274000-69274400	Enhancers	Fetal Stomach	stomach
48	chr1:69274000-69274400	Enhancers	Ovary	ovary
49	chr1:69274000-69274600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:69274000-69274800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links