Variant report

Variant	nsv1008139
Chromosome Location	chr1:61937103-61967496
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:61869793..61870564-chr1:61962065..61962647,2	MCF-7	breast:
2	chr1:61957656..61960051-chr1:61961618..61963243,2	MCF-7	breast:
3	chr1:61931953..61934023-chr1:61946122..61947658,2	K562	blood:
4	chr1:61681230..61681758-chr1:61961831..61962532,2	MCF-7	breast:
5	chr1:61961790..61962305-chr1:62107717..62108447,2	MCF-7	breast:
6	chr1:61957656..61960051-chr1:61961618..61963243,2	MCF-7	breast:
7	chr1:61949657..61951267-chr1:62070841..62073527,2	K562	blood:
8	chr1:61963324..61965163-chr1:62208941..62210966,2	MCF-7	breast:
9	chr1:61681255..61681914-chr1:61963857..61964457,3	MCF-7	breast:

No data

Extended variants
information (count: 1176 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1176 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137921012	chr1:61937123-61937124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529458564	chr1:61937153-61937154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149487774	chr1:61937167-61937168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563079277	chr1:61937225-61937226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143097318	chr1:61937265-61937266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74088115	chr1:61937266-61937267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs28532952	chr1:61937330-61937331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181932576	chr1:61937417-61937418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376207426	chr1:61937444-61937445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534228038	chr1:61937451-61937452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148187071	chr1:61937452-61937453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567791677	chr1:61937489-61937490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565779325	chr1:61937490-61937491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556694556	chr1:61937493-61937494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373449025	chr1:61937574-61937575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141174087	chr1:61937584-61937585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557657331	chr1:61937602-61937603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572732957	chr1:61937623-61937624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147322742	chr1:61937654-61937655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141028711	chr1:61937660-61937661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61186631	chr1:61937754-61937755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548168518	chr1:61937772-61937773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573635130	chr1:61937847-61937848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548368823	chr1:61937902-61937903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544337396	chr1:61937914-61937915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143183699	chr1:61937915-61937916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186941632	chr1:61937954-61937955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533591558	chr1:61937956-61937957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75530810	chr1:61937966-61937967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139357217	chr1:61937967-61937968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61668505	chr1:61937968-61937969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545697126	chr1:61938004-61938005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560879750	chr1:61938032-61938033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527679742	chr1:61938033-61938034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551414221	chr1:61938053-61938054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191362544	chr1:61938095-61938096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531534409	chr1:61938142-61938143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147514895	chr1:61938208-61938209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116630749	chr1:61938217-61938218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114829370	chr1:61938218-61938219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371113743	chr1:61938219-61938220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74325407	chr1:61938230-61938231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56330305	chr1:61938232-61938233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374204060	chr1:61938309-61938310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558820045	chr1:61938335-61938336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568688354	chr1:61938336-61938337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570695101	chr1:61938345-61938346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557622619	chr1:61938359-61938360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566806222	chr1:61938372-61938373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369407015	chr1:61938382-61938383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61919000-61938600	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:61921800-61938600	Weak transcription	NHEK	skin
3	chr1:61929400-61938400	Weak transcription	Aorta	Aorta
4	chr1:61929600-61938800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:61930600-61937200	Weak transcription	Fetal Heart	heart
6	chr1:61938000-61939200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:61938400-61939400	Enhancers	Aorta	Aorta
8	chr1:61938600-61939000	Enhancers	NHEK	skin
9	chr1:61938800-61939000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:61939800-61940200	Enhancers	Fetal Brain Male	brain
11	chr1:61940200-61941200	Weak transcription	Fetal Brain Male	brain
12	chr1:61940600-61940800	Enhancers	Esophagus	oesophagus
13	chr1:61940800-61961400	Weak transcription	Esophagus	oesophagus
14	chr1:61941200-61941400	Enhancers	Fetal Brain Male	brain
15	chr1:61942400-61943400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:61942800-61943000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr1:61942800-61943000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:61942800-61943000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:61943000-61943200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
20	chr1:61943200-61943600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
21	chr1:61943400-61946200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:61946200-61946400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:61946200-61946400	Enhancers	Fetal Muscle Leg	muscle
24	chr1:61946200-61946800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:61946200-61947000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:61946200-61947200	Enhancers	Fetal Muscle Trunk	muscle
27	chr1:61946200-61948200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:61946200-61948400	Enhancers	HMEC	breast
29	chr1:61946400-61946600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:61946400-61946800	Enhancers	Hela-S3	cervix
31	chr1:61946400-61947000	Enhancers	Fetal Kidney	kidney
32	chr1:61946400-61947200	Enhancers	NHEK	skin
33	chr1:61946400-61947800	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:61946400-61948000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr1:61946400-61948400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
36	chr1:61946400-61948400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:61946600-61946800	Enhancers	HSMMtube	muscle
38	chr1:61946600-61947200	Enhancers	Aorta	Aorta
39	chr1:61946600-61947600	Enhancers	A549	lung
40	chr1:61946600-61948000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:61946600-61948200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:61946600-61948600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:61946800-61947000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
44	chr1:61946800-61947000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:61946800-61947000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:61946800-61947000	Flanking Active TSS	HSMMtube	muscle
47	chr1:61946800-61947200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:61946800-61947400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:61946800-61947400	Flanking Active TSS	Hela-S3	cervix
50	chr1:61946800-61948200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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