Variant report

Variant	nsv429805
Chromosome Location	chr7:117940049-118026049
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:117989526..117991618-chr7:118013013..118014775,2	K562	blood:
2	chr7:117992651..117993374-chr7:118815864..118816654,2	MCF-7	breast:
3	chr7:117965704..117967563-chr7:117967584..117969629,2	K562	blood:
4	chr7:117990137..117992600-chr7:117994804..117996566,2	K562	blood:
5	chr7:117951615..117953994-chr7:117957679..117960636,2	MCF-7	breast:
6	chr7:117989526..117991618-chr7:118013013..118014775,2	K562	blood:
7	chr7:118024235..118026540-chr7:118029171..118031730,2	K562	blood:
8	chr7:118001976..118004241-chr7:118007255..118009267,2	K562	blood:
9	chr7:117934474..117936581-chr7:117939544..117942392,2	MCF-7	breast:
10	chr7:118001976..118004241-chr7:118007255..118009267,2	K562	blood:
11	chr1:217680158..217680969-chr7:117992533..117993276,2	MCF-7	breast:
12	chr7:117965704..117967563-chr7:117967584..117969629,2	K562	blood:
13	chr7:117992579..117993168-chr7:118815740..118816656,2	K562	blood:
14	chr7:117992682..117993833-chr7:118815599..118816513,3	MCF-7	breast:
15	chr7:117994177..117997153-chr7:117999997..118002476,2	K562	blood:
16	chr7:117994177..117997153-chr7:117999997..118002476,2	K562	blood:
17	chr7:117990137..117992600-chr7:117994804..117996566,2	K562	blood:
18	chr7:117976765..117979228-chr7:117979342..117982033,2	MCF-7	breast:
19	chr7:118002902..118005876-chr7:118043767..118045585,2	K562	blood:
20	chr7:117951615..117953994-chr7:117957679..117960636,2	MCF-7	breast:
21	chr7:117976765..117979228-chr7:117979342..117982033,2	MCF-7	breast:

No data

Extended variants
information (count: 1955 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1955 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553937944	chr7:117940054-117940055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117293802	chr7:117940066-117940067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190845412	chr7:117940124-117940125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558077743	chr7:117940134-117940135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575917113	chr7:117940182-117940183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181627755	chr7:117940214-117940215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78756955	chr7:117940278-117940279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372066676	chr7:117940280-117940281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186832883	chr7:117940283-117940284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541131411	chr7:117940300-117940301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571269096	chr7:117940343-117940344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191268537	chr7:117940356-117940357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150278782	chr7:117940407-117940408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532992388	chr7:117940451-117940452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs118110159	chr7:117940478-117940479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10275415	chr7:117940496-117940497	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs370004302	chr7:117940500-117940501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532019612	chr7:117940574-117940575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550467930	chr7:117940578-117940579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567845213	chr7:117940627-117940628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568685327	chr7:117940645-117940646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145453511	chr7:117940723-117940724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111396598	chr7:117940815-117940816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536874693	chr7:117940933-117940934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28709020	chr7:117940951-117940952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17141223	chr7:117940959-117940960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs556175559	chr7:117940966-117940967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566036557	chr7:117940976-117940977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539859834	chr7:117941002-117941003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113825678	chr7:117941031-117941032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572208798	chr7:117941038-117941039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200568149	chr7:117941082-117941083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374418177	chr7:117941083-117941084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576002446	chr7:117941137-117941138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17141225	chr7:117941140-117941141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs115356747	chr7:117941162-117941163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146957170	chr7:117941173-117941174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62468212	chr7:117941251-117941252	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs553073679	chr7:117941297-117941298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10249960	chr7:117941479-117941480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577648519	chr7:117941481-117941482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545016089	chr7:117941482-117941483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563294619	chr7:117941486-117941487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183216075	chr7:117941512-117941513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544135065	chr7:117941573-117941574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201410386	chr7:117941589-117941590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562319265	chr7:117941629-117941630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145701117	chr7:117941633-117941634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547663949	chr7:117941662-117941663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566195001	chr7:117941670-117941671	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	23813976	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117937400-117940600	Enhancers	Dnd41	blood
2	chr7:117940600-117941200	Weak transcription	Dnd41	blood
3	chr7:117941200-117941800	Enhancers	Dnd41	blood
4	chr7:117941800-117942800	Weak transcription	Dnd41	blood
5	chr7:117942800-117943200	Enhancers	Dnd41	blood
6	chr7:117943200-117943400	Weak transcription	Dnd41	blood
7	chr7:117943400-117944000	Enhancers	Dnd41	blood
8	chr7:117944000-117944400	Flanking Active TSS	Dnd41	blood
9	chr7:117944200-117944400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:117944400-117947400	Enhancers	Dnd41	blood
11	chr7:117944400-117948800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:117945400-117946200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
13	chr7:117945600-117946400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
14	chr7:117946200-117947000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:117947400-117947800	Weak transcription	Dnd41	blood
16	chr7:117947800-117949600	ZNF genes & repeats	Dnd41	blood
17	chr7:117948400-117949800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
18	chr7:117948800-117949200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr7:117949600-117949800	Weak transcription	Dnd41	blood
20	chr7:117949800-117950000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr7:117949800-117951000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr7:117949800-117951200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
23	chr7:117949800-117955000	Enhancers	Dnd41	blood
24	chr7:117950000-117953000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr7:117951000-117951200	Enhancers	Hela-S3	cervix
26	chr7:117951000-117952400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr7:117951000-117953000	Enhancers	HMEC	breast
28	chr7:117951200-117951600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr7:117951200-117952200	Weak transcription	Hela-S3	cervix
30	chr7:117951200-117952400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr7:117951400-117951800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:117951400-117952200	Enhancers	NHEK	skin
33	chr7:117951400-117952400	Flanking Active TSS	GM12878-XiMat	blood
34	chr7:117951600-117952200	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr7:117951600-117952400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:117951600-117953000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr7:117951600-117953000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr7:117952000-117952400	Enhancers	Primary hematopoietic stem cells	blood
39	chr7:117952200-117952400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:117952200-117952600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:117952200-117952800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr7:117952200-117952800	Enhancers	Hela-S3	cervix
43	chr7:117952200-117953000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
44	chr7:117952200-117953200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr7:117952400-117952600	Enhancers	GM12878-XiMat	blood
46	chr7:117952400-117953000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr7:117952400-117953000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr7:117952400-117953200	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr7:117958800-117960200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:117960600-117961400	Enhancers	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links