Variant report

Variant	nsv1024920
Chromosome Location	chr7:120002420-120083753
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	chr7:120040994..120042804-chr7:120051408..120054371,2	K562	blood:
2	chr7:120017341..120019640-chr7:120028959..120030500,2	K562	blood:
3	chr7:120031308..120032856-chr7:120160102..120161912,2	K562	blood:
4	chr7:120020344..120022950-chr7:120023648..120028182,4	K562	blood:
5	chr7:119740645..119741482-chr7:120036035..120036887,2	K562	blood:
6	chr7:120076190..120079219-chr7:120081978..120085148,3	K562	blood:
7	chr7:120057414..120060150-chr7:120060471..120063689,3	K562	blood:
8	chr7:120017341..120019640-chr7:120028959..120030500,2	K562	blood:
9	chr7:120080252..120082102-chr7:120084168..120086812,2	K562	blood:
10	chr7:120040994..120042804-chr7:120051408..120054371,2	K562	blood:
11	chr12:86629307..86629807-chr7:120030191..120030808,2	MCF-7	breast:
12	chr7:120034992..120037727-chr7:120044478..120046631,2	K562	blood:
13	chr7:120014784..120016778-chr7:120018789..120020521,2	K562	blood:
14	chr7:120020344..120022950-chr7:120023648..120028182,4	K562	blood:
15	chr7:120034992..120037727-chr7:120044478..120046631,2	K562	blood:
16	chr7:120074103..120076279-chr7:120077264..120079117,2	K562	blood:
17	chr7:120014784..120016778-chr7:120018789..120020521,2	K562	blood:
18	chr7:120076190..120079219-chr7:120081978..120085148,3	K562	blood:
19	chr7:120074103..120076279-chr7:120077264..120079117,2	K562	blood:
20	chr7:115602811..115604728-chr7:120073823..120075481,2	K562	blood:
21	chr7:120057414..120060150-chr7:120060471..120063689,3	K562	blood:

No data

Extended variants
information (count: 2634 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2634 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546695489	chr7:120002424-120002425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117948597	chr7:120002427-120002428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572599203	chr7:120002470-120002471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539199218	chr7:120002524-120002525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192526079	chr7:120002570-120002571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569489317	chr7:120002599-120002600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148358339	chr7:120002624-120002625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538166546	chr7:120002679-120002680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555285049	chr7:120002683-120002684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569776374	chr7:120002684-120002685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574492617	chr7:120002721-120002722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540261870	chr7:120002840-120002841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369763033	chr7:120002871-120002872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576942074	chr7:120003002-120003003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139846264	chr7:120003058-120003059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111783502	chr7:120003062-120003063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143397455	chr7:120003068-120003069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146228379	chr7:120003116-120003117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79679008	chr7:120003130-120003131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561193692	chr7:120003140-120003141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537108028	chr7:120003155-120003156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184100203	chr7:120003157-120003158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546632169	chr7:120003182-120003183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139204614	chr7:120003190-120003191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532248520	chr7:120003222-120003223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552699529	chr7:120003243-120003244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569342440	chr7:120003244-120003245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538478206	chr7:120003256-120003257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554945326	chr7:120003330-120003331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189532457	chr7:120003337-120003338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146304046	chr7:120003356-120003357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565322124	chr7:120003385-120003386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553751241	chr7:120003403-120003404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553969072	chr7:120003406-120003407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149967600	chr7:120003435-120003436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576884149	chr7:120003458-120003459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192665803	chr7:120003464-120003465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185007468	chr7:120003473-120003474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575323945	chr7:120003509-120003510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189067735	chr7:120003511-120003512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561131894	chr7:120003550-120003551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570530177	chr7:120003556-120003557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181733455	chr7:120003628-120003629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184574710	chr7:120003737-120003738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560201581	chr7:120003774-120003775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532173469	chr7:120003821-120003822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551983316	chr7:120003884-120003885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7778213	chr7:120003915-120003916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs531799809	chr7:120003929-120003930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117522661	chr7:120003942-120003943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Basal cell lymphoma	21115979	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119996800-120009800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:120001600-120003600	Enhancers	GM12878-XiMat	blood
3	chr7:120001800-120006600	Weak transcription	Ovary	ovary
4	chr7:120008000-120009000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:120009000-120010000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:120009800-120011800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:120010000-120010400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:120011800-120024400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:120017000-120017800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:120017600-120017800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:120024400-120024800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:120024800-120028800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:120034000-120034600	ZNF genes & repeats	GM12878-XiMat	blood
14	chr7:120034600-120035000	Flanking Active TSS	GM12878-XiMat	blood
15	chr7:120035000-120035400	Enhancers	GM12878-XiMat	blood
16	chr7:120035400-120035800	Flanking Active TSS	GM12878-XiMat	blood
17	chr7:120035600-120035800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:120035800-120036400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr7:120035800-120038000	Active TSS	GM12878-XiMat	blood
20	chr7:120036400-120041800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:120038000-120038400	Weak transcription	GM12878-XiMat	blood
22	chr7:120038400-120039000	ZNF genes & repeats	GM12878-XiMat	blood
23	chr7:120038600-120038800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:120038800-120039000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr7:120039000-120039800	Active TSS	GM12878-XiMat	blood
26	chr7:120039000-120041000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:120039800-120042400	Flanking Active TSS	GM12878-XiMat	blood
28	chr7:120041000-120041400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr7:120041000-120043200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr7:120041200-120041400	Enhancers	Ovary	ovary
31	chr7:120041200-120042600	Enhancers	Brain Anterior Caudate	brain
32	chr7:120041200-120043200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:120041200-120043400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr7:120041400-120042400	Weak transcription	Ovary	ovary
35	chr7:120041600-120044800	Enhancers	NHEK	skin
36	chr7:120041800-120042600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:120041800-120042800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr7:120041800-120043000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:120041800-120043400	Enhancers	Muscle Satellite Cultured Cells	--
40	chr7:120041800-120043400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:120042000-120042200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:120042000-120042200	Enhancers	HUVEC	blood vessel
43	chr7:120042000-120042400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:120042000-120042400	Enhancers	Brain Germinal Matrix	brain
45	chr7:120042000-120042800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr7:120042000-120043400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr7:120042000-120044600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:120042200-120042600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:120042200-120042600	Flanking Active TSS	HUVEC	blood vessel
50	chr7:120042200-120042800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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