Variant report

Variant	nsv1018799
Chromosome Location	chr7:125262762-125384885
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:125310080..125313010-chr7:125315945..125318441,2	K562	blood:
2	chr7:125271199..125273030-chr7:125279444..125281182,2	K562	blood:
3	chr7:125266350..125268456-chr7:125268990..125271512,2	K562	blood:
4	chr7:125298032..125299556-chr7:125301749..125304185,2	K562	blood:
5	chr7:125338629..125340672-chr7:125343129..125344648,2	K562	blood:
6	chr7:125271199..125273030-chr7:125279444..125281182,2	K562	blood:
7	chr7:125280203..125282931-chr7:125290069..125292178,2	K562	blood:
8	chr7:125298032..125299556-chr7:125301749..125304185,2	K562	blood:
9	chr7:125369632..125371193-chr7:125372789..125375510,2	K562	blood:
10	chr7:125251686..125253446-chr7:125261235..125263882,2	K562	blood:
11	chr7:125338629..125340672-chr7:125343129..125344648,2	K562	blood:
12	chr7:125325822..125328394-chr7:125330208..125331998,2	K562	blood:
13	chr7:125269070..125270794-chr7:125275616..125278202,2	K562	blood:
14	chr7:125369632..125371193-chr7:125372789..125375510,2	K562	blood:
15	chr7:125266350..125268456-chr7:125268990..125271512,2	K562	blood:
16	chr7:125325822..125328394-chr7:125330208..125331998,2	K562	blood:
17	chr7:124699671..124700472-chr7:125310284..125311293,4	MCF-7	breast:
18	chr7:125269070..125270794-chr7:125275616..125278202,2	K562	blood:
19	chr7:125280203..125282931-chr7:125290069..125292178,2	K562	blood:
20	chr7:125384743..125387377-chr7:125395816..125398229,2	K562	blood:
21	chr7:125204110..125205826-chr7:125284105..125286281,2	K562	blood:
22	chr7:125023517..125024026-chr7:125310752..125311652,2	MCF-7	breast:
23	chr7:125310080..125313010-chr7:125315945..125318441,2	K562	blood:

No data

Extended variants
information (count: 1366 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1366 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562290037	chr7:125262819-125262820	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs373156247	chr7:125262836-125262837	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs111480220	chr7:125262863-125262864	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs6467021	chr7:125262864-125262865	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs530422697	chr7:125262892-125262893	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs201637004	chr7:125262931-125262932	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs35729604	chr7:125262935-125262936	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs386411207	chr7:125262937-125262938	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs376612903	chr7:125262942-125262943	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs372627288	chr7:125262943-125262944	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs187935925	chr7:125262961-125262962	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs191916024	chr7:125262979-125262980	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs570435090	chr7:125262981-125262982	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs111960148	chr7:125263036-125263037	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs552718547	chr7:125263037-125263038	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs567917644	chr7:125263058-125263059	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs184164699	chr7:125263061-125263062	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs553494479	chr7:125263062-125263063	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs187509209	chr7:125263096-125263097	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs36008489	chr7:125263112-125263113	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs575540247	chr7:125263128-125263129	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs545863781	chr7:125263131-125263132	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs558149265	chr7:125263150-125263151	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs573229364	chr7:125263159-125263160	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs191992518	chr7:125263168-125263169	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs565474892	chr7:125263185-125263186	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs74930590	chr7:125263191-125263192	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs144529865	chr7:125263225-125263226	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs563016364	chr7:125263268-125263269	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs533712480	chr7:125263272-125263273	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs7805276	chr7:125263299-125263300	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs367857683	chr7:125263310-125263311	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs17148764	chr7:125263429-125263430	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs546769525	chr7:125263461-125263462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377148099	chr7:125263584-125263585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550788247	chr7:125263618-125263619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542317437	chr7:125263641-125263642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148744433	chr7:125263683-125263684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539743157	chr7:125263697-125263698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7799906	chr7:125263724-125263725	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs573285954	chr7:125263732-125263733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534228489	chr7:125263753-125263754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555896081	chr7:125263891-125263892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184546862	chr7:125263942-125263943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544802195	chr7:125263964-125263965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563110329	chr7:125263972-125263973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560712834	chr7:125268269-125268270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116967322	chr7:125268311-125268312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546309171	chr7:125268345-125268346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73722029	chr7:125268363-125268364	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125261000-125263200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:125262400-125262800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:125262600-125263200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:125262800-125263200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:125262800-125263200	Active TSS	HMEC	breast
6	chr7:125263200-125263400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:125263200-125263400	Enhancers	HMEC	breast
8	chr7:125263200-125264000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:125268200-125269800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:125285200-125288200	Weak transcription	Pancreas	Pancrea
11	chr7:125288200-125288600	Enhancers	Pancreas	Pancrea
12	chr7:125288200-125289400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:125288800-125289000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:125289200-125289800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:125289400-125292000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:125291200-125291400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:125291400-125291600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:125291600-125292600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:125291800-125292400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:125292000-125292200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr7:125292000-125292400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr7:125292000-125292600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:125292600-125293400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:125293400-125294400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:125294400-125294600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:125299800-125300600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr7:125299800-125300600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr7:125299800-125302000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr7:125299800-125302000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr7:125300000-125300400	Enhancers	H9 Cell Line	embryonic stem cell
31	chr7:125300000-125300400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr7:125300000-125300400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:125300000-125300400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:125300000-125300600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr7:125300000-125300600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:125300200-125302600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr7:125300200-125302800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr7:125300200-125303000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:125300400-125300800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:125300400-125301600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:125300400-125303400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr7:125300400-125303400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:125300600-125301400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr7:125300600-125301600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:125300600-125302800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:125300600-125303400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr7:125300600-125308600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:125300800-125301600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr7:125301200-125302000	Enhancers	Primary hematopoietic stem cells	blood
50	chr7:125301400-125301600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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