Variant report

Variant	nsv870641
Chromosome Location	chr1:69338706-69446281
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:69439643..69440643-chr1:153939611..153940335,2	Hela-S3	cervix:
2	chr1:69441661..69443184-chr1:69445863..69448004,2	K562	blood:
3	chr1:69441661..69443184-chr1:69445863..69448004,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC7-7	chr1:69421041-69421132	NONHSAT003828
2	lnc-LRRC7-7	chr1:69423057-69423274	NONHSAT003828

Variant related genes	Relation type
ENSG00000143578	chromatin interactions
ENSG00000143570	chromatin interactions

Extended variants
information (count: 2459 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:2459 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576950411	chr1:69346805-69346806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545811614	chr1:69346806-69346807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559344564	chr1:69346814-69346815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9436851	chr1:69346818-69346819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375948504	chr1:69346831-69346832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562163252	chr1:69346839-69346840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531109421	chr1:69346850-69346851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370590483	chr1:69346851-69346852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564429454	chr1:69346867-69346868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533203261	chr1:69346885-69346886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546594679	chr1:69346899-69346900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374025439	chr1:69346921-69346922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368218642	chr1:69346956-69346957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371251257	chr1:69346960-69346961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374489922	chr1:69346995-69346996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368911694	chr1:69346998-69346999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371348166	chr1:69347007-69347008	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs566491821	chr1:69347009-69347010	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs376679385	chr1:69347027-69347028	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs535595675	chr1:69347028-69347029	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs367972591	chr1:69347035-69347036	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs371849169	chr1:69347045-69347046	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs549429668	chr1:69347049-69347050	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs568191555	chr1:69347065-69347066	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs537237022	chr1:69347071-69347072	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs557338714	chr1:69347097-69347098	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs186019837	chr1:69347112-69347113	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs151188803	chr1:69347126-69347127	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs111370567	chr1:69347127-69347128	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs553019939	chr1:69347157-69347158	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs113063246	chr1:69347158-69347159	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs541585458	chr1:69347170-69347171	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs140402527	chr1:69347171-69347172	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs369517874	chr1:69347173-69347174	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs191910124	chr1:69347197-69347198	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs564295356	chr1:69347206-69347207	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs533455459	chr1:69347208-69347209	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs546855767	chr1:69347221-69347222	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs111882121	chr1:69347234-69347235	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs529268277	chr1:69347235-69347236	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs150365963	chr1:69347260-69347261	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs571377140	chr1:69347285-69347286	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs537904091	chr1:69347287-69347288	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs11581649	chr1:69347290-69347291	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs570623939	chr1:69347294-69347295	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs142377670	chr1:69347295-69347296	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs183744280	chr1:69347309-69347310	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs111785005	chr1:69347324-69347325	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs535420945	chr1:69347329-69347330	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs555217117	chr1:69347330-69347331	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:69346800-69347000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:69347000-69347400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:69347000-69347600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr1:69347000-69347800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr1:69347000-69347800	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr1:69347000-69347800	Active TSS	Placenta	Placenta
7	chr1:69347000-69348000	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr1:69347000-69348200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr1:69347000-69348200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:69347000-69348600	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr1:69347000-69348800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:69347200-69347600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:69347200-69347800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:69347200-69348000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr1:69347200-69348000	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr1:69347400-69347800	Active TSS	A549	lung
17	chr1:69347400-69349000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:69347600-69348000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:69347800-69348000	Enhancers	Placenta	Placenta
20	chr1:69348000-69348600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:69348200-69348400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:69348600-69349000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr1:69354600-69355200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:69355200-69355400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:69356600-69356800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:69356800-69357800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:69358000-69358200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:69365800-69366600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:69366600-69369200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:69369200-69371000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:69369600-69371000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:69369800-69371000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:69370000-69370800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr1:69370200-69370800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:69373400-69373600	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr1:69374200-69374400	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr1:69375400-69376000	ZNF genes & repeats	Aorta	Aorta
38	chr1:69376000-69383000	Weak transcription	Aorta	Aorta
39	chr1:69379800-69383400	Enhancers	Fetal Heart	heart
40	chr1:69380400-69382200	Enhancers	Ovary	ovary
41	chr1:69380600-69383200	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr1:69381200-69382600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr1:69381200-69382600	Enhancers	Fetal Brain Male	brain
44	chr1:69381200-69384600	Enhancers	Stomach Mucosa	stomach
45	chr1:69381200-69384800	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr1:69381200-69385600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:69381400-69382400	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr1:69381400-69383400	Enhancers	Rectal Smooth Muscle	rectum
49	chr1:69381400-69383800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:69381600-69381800	Enhancers	Adipose Nuclei	Adipose

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