Variant report

Variant	nsv517877
Chromosome Location	chr1:71137936-71142202
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:71139654..71142192-chr1:71144510..71147443,2	MCF-7	breast:
2	chr1:71140625..71143147-chr1:71147219..71151401,4	K562	blood:
3	chr1:71139809..71142590-chr1:71513361..71515256,2	K562	blood:
4	chr1:71131135..71133902-chr1:71140118..71142284,2	K562	blood:

Variant related genes	Relation type
ENSG00000235079	chromatin interactions
ENSG00000050628	chromatin interactions

Extended variants
information (count: 142 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs951353	chr1:71137936-71137937	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188903498	chr1:71137942-71137943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181976197	chr1:71137954-71137955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558165302	chr1:71138107-71138108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535533252	chr1:71138114-71138115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550774169	chr1:71138138-71138139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571949826	chr1:71138140-71138141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534115658	chr1:71138199-71138200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554372566	chr1:71138235-71138236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573626498	chr1:71138242-71138243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568924493	chr1:71138265-71138266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549617063	chr1:71138284-71138285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536368366	chr1:71138301-71138302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186356189	chr1:71138302-71138303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566313535	chr1:71138375-71138376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545066482	chr1:71138419-71138420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539759335	chr1:71138438-71138439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76988251	chr1:71138458-71138459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190955418	chr1:71138503-71138504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142873656	chr1:71138506-71138507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35055581	chr1:71138512-71138513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540843809	chr1:71138623-71138624	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534989116	chr1:71138631-71138632	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557612195	chr1:71138660-71138661	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147464086	chr1:71138664-71138665	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17536833	chr1:71138687-71138688	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs531588293	chr1:71138714-71138715	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551786994	chr1:71138715-71138716	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571826216	chr1:71138719-71138720	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534528907	chr1:71138791-71138792	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547639657	chr1:71138807-71138808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533536682	chr1:71138857-71138858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138311901	chr1:71138863-71138864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536304986	chr1:71138886-71138887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149555538	chr1:71138923-71138924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34693753	chr1:71138930-71138931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182990704	chr1:71139048-71139049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554901359	chr1:71139056-71139057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111769180	chr1:71139078-71139079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185920869	chr1:71139113-71139114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558547222	chr1:71139172-71139173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572215691	chr1:71139195-71139196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541328997	chr1:71139205-71139206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117865389	chr1:71139226-71139227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574290081	chr1:71139244-71139245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543254940	chr1:71139291-71139292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377176440	chr1:71139301-71139302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368795058	chr1:71139349-71139350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1316567	chr1:71139350-71139351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551457849	chr1:71139359-71139360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Esophageal cancer	21851588	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
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71132800-71141000	Weak transcription	Gastric	stomach
2	chr1:71133800-71138600	Weak transcription	Aorta	Aorta
3	chr1:71134000-71140600	Weak transcription	Pancreas	Pancrea
4	chr1:71136200-71140400	Weak transcription	Fetal Heart	heart
5	chr1:71136800-71138800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:71137000-71139200	Weak transcription	K562	blood
7	chr1:71137000-71140600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:71137200-71140600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:71137400-71139000	Enhancers	Fetal Brain Female	brain
10	chr1:71137400-71140600	Weak transcription	Adipose Nuclei	Adipose
11	chr1:71137600-71138600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:71137600-71139000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:71137600-71139200	Enhancers	Fetal Lung	lung
14	chr1:71137800-71138600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:71137800-71138600	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:71137800-71138600	Weak transcription	Fetal Stomach	stomach
17	chr1:71138000-71138800	Enhancers	Colon Smooth Muscle	Colon
18	chr1:71138200-71138800	Enhancers	Fetal Brain Male	brain
19	chr1:71138400-71139400	Enhancers	Ovary	ovary
20	chr1:71138600-71138800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:71138600-71138800	Enhancers	Aorta	Aorta
22	chr1:71138600-71138800	Enhancers	Fetal Stomach	stomach
23	chr1:71138600-71139400	Enhancers	Fetal Muscle Leg	muscle
24	chr1:71138800-71139000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:71138800-71139200	Weak transcription	Fetal Stomach	stomach
26	chr1:71138800-71139800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:71139000-71141000	Weak transcription	Fetal Brain Female	brain
28	chr1:71139000-71145400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:71139200-71140400	Enhancers	K562	blood
30	chr1:71139200-71140600	Weak transcription	Fetal Lung	lung
31	chr1:71139200-71141200	Enhancers	Fetal Stomach	stomach
32	chr1:71139400-71140600	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:71139400-71143200	Weak transcription	Ovary	ovary
34	chr1:71139600-71139800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:71139600-71139800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr1:71139800-71140000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr1:71139800-71140200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr1:71139800-71140800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:71139800-71141400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:71139800-71142400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:71140000-71140400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:71140200-71140600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:71140200-71141600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:71140400-71141400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:71140400-71141400	Enhancers	Fetal Heart	heart
46	chr1:71140400-71141800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr1:71140400-71142400	Flanking Active TSS	K562	blood
48	chr1:71140600-71140800	Enhancers	Fetal Muscle Leg	muscle
49	chr1:71140600-71140800	Enhancers	Pancreas	Pancrea
50	chr1:71140600-71141000	Enhancers	Adipose Nuclei	Adipose

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