Variant report

Variant	nsv888980
Chromosome Location	chr7:110838098-110892059
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:46)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:110843078..110846205-chr7:110849161..110854141,4	K562	blood:
2	chr7:110858722..110860508-chr7:110869419..110871427,2	K562	blood:
3	chr7:110846499..110848352-chr7:110867218..110869031,2	MCF-7	breast:
4	chr7:110867615..110870539-chr7:110870998..110875749,6	K562	blood:
5	chr7:110843665..110845702-chr7:110845783..110848771,2	K562	blood:
6	chr7:110850499..110852525-chr7:110861582..110863250,2	K562	blood:
7	chr7:110875743..110879019-chr7:110880390..110884102,5	K562	blood:
8	chr7:110838168..110840806-chr7:110845021..110846527,2	K562	blood:
9	chr7:110836787..110838968-chr7:110842164..110843669,2	K562	blood:
10	chr7:110845330..110847607-chr7:110862386..110864699,2	K562	blood:
11	chr7:110843078..110844596-chr7:110851457..110854141,2	K562	blood:
12	chr7:110838767..110841477-chr7:110867993..110870087,3	K562	blood:
13	chr7:110890356..110892390-chr7:110893967..110896589,2	K562	blood:
14	chr7:110846405..110848807-chr7:110859320..110861910,2	K562	blood:
15	chr7:110836787..110838968-chr7:110842164..110843669,2	K562	blood:
16	chr7:110850499..110852525-chr7:110861582..110863250,2	K562	blood:
17	chr7:110843078..110844596-chr7:110851457..110854141,2	K562	blood:
18	chr7:110867615..110869914-chr7:110870998..110874841,5	K562	blood:
19	chr7:110875743..110879019-chr7:110880390..110884102,5	K562	blood:
20	chr7:110846405..110848807-chr7:110859320..110861910,2	K562	blood:
21	chr7:110845330..110847607-chr7:110862386..110864699,2	K562	blood:
22	chr7:110858379..110861216-chr7:110867269..110869936,2	MCF-7	breast:
23	chr7:110843078..110846205-chr7:110849161..110854141,4	K562	blood:
24	chr7:110860948..110867491-chr7:110867576..110875570,9	K562	blood:
25	chr7:110827684..110829363-chr7:110849997..110851639,2	K562	blood:
26	chr7:110858722..110860508-chr7:110869419..110871427,2	K562	blood:
27	chr7:110829508..110831617-chr7:110846112..110848748,2	K562	blood:
28	chr7:110867615..110869914-chr7:110870998..110874841,5	K562	blood:
29	chr7:110838168..110840806-chr7:110845021..110846527,2	K562	blood:
30	chr7:110148252..110150649-chr7:110845950..110847481,2	K562	blood:
31	chr7:110876830..110878652-chr7:110880390..110881983,2	K562	blood:
32	chr7:110865069..110867467-chr7:110870810..110872460,2	K562	blood:
33	chr7:110846499..110848352-chr7:110867218..110869031,2	MCF-7	breast:
34	chr7:110865069..110867467-chr7:110870810..110872460,2	K562	blood:
35	chr7:110867615..110870539-chr7:110870998..110875749,6	K562	blood:
36	chr7:110864193..110867019-chr7:110872692..110875184,2	K562	blood:
37	chr7:110843665..110845702-chr7:110845783..110848771,2	K562	blood:
38	chr7:110858379..110861216-chr7:110867269..110869936,2	MCF-7	breast:
39	chr7:110864193..110867019-chr7:110872692..110875184,2	K562	blood:
40	chr7:110873178..110876028-chr7:110879023..110881102,2	K562	blood:
41	chr7:110838767..110841477-chr7:110867993..110870087,3	K562	blood:
42	chr7:110846458..110850024-chr7:110851219..110853852,3	MCF-7	breast:
43	chr7:110846458..110850024-chr7:110851219..110853852,3	MCF-7	breast:
44	chr7:110876830..110878652-chr7:110880390..110881983,2	K562	blood:
45	chr7:110860948..110867491-chr7:110867576..110875570,9	K562	blood:
46	chr7:110873178..110876028-chr7:110879023..110881102,2	K562	blood:

No data

Extended variants
information (count: 1914 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1914 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10214984	chr7:110838098-110838099	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369833276	chr7:110838245-110838246	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187774592	chr7:110838278-110838279	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200981230	chr7:110838366-110838367	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149405480	chr7:110838382-110838383	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116503328	chr7:110838389-110838390	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368580198	chr7:110838461-110838462	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs111390640	chr7:110838484-110838485	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs563948462	chr7:110838536-110838537	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs532921860	chr7:110838541-110838542	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs546215596	chr7:110838555-110838556	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs559988928	chr7:110838568-110838569	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs528729266	chr7:110838601-110838602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148111599	chr7:110838635-110838636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541623251	chr7:110838652-110838653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531040396	chr7:110838668-110838669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553456220	chr7:110838673-110838674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189852289	chr7:110838689-110838690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572007096	chr7:110838720-110838721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115780710	chr7:110838740-110838741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539803724	chr7:110838742-110838743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141916738	chr7:110838839-110838840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146054058	chr7:110838841-110838842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375736456	chr7:110838859-110838860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535324741	chr7:110838879-110838880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182636611	chr7:110838911-110838912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187563213	chr7:110838952-110838953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564817771	chr7:110838972-110838973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35647068	chr7:110838979-110838980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537578308	chr7:110838997-110838998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143049549	chr7:110839034-110839035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557819562	chr7:110839044-110839045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561786947	chr7:110839050-110839051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563899601	chr7:110839084-110839085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140042176	chr7:110839095-110839096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7804926	chr7:110839107-110839108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142629633	chr7:110839164-110839165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370861773	chr7:110839165-110839166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531315212	chr7:110839172-110839173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559850511	chr7:110839173-110839174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573584963	chr7:110839221-110839222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112188375	chr7:110839324-110839325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7808813	chr7:110839344-110839345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375691906	chr7:110839361-110839362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146036724	chr7:110839412-110839413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367907997	chr7:110839413-110839414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544955824	chr7:110839456-110839457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193002678	chr7:110839460-110839461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77798661	chr7:110839491-110839492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570391169	chr7:110839555-110839556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Acute myeloid leukemia	16864856	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
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Dyslexia	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Schizophrenia	23813976	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21509527	CNVD
Glioma	20126413	CNVD

Chromatin state (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110837400-110838200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:110837400-110840000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:110837600-110838200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:110837600-110839200	Enhancers	HMEC	breast
5	chr7:110837600-110839200	Enhancers	NH-A	brain
6	chr7:110837600-110839200	Enhancers	NHEK	skin
7	chr7:110837600-110839200	Enhancers	NHLF	lung
8	chr7:110837600-110839400	Enhancers	HSMM	muscle
9	chr7:110837600-110839800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:110837600-110840000	Enhancers	Osteobl	bone
11	chr7:110837800-110838200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:110837800-110838400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:110837800-110838400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:110837800-110838400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:110837800-110839000	Enhancers	Hela-S3	cervix
16	chr7:110838000-110838200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr7:110838000-110838400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:110838000-110838400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:110838000-110838400	Flanking Active TSS	NHDF-Ad	bronchial
20	chr7:110838000-110838800	Enhancers	HSMMtube	muscle
21	chr7:110838200-110838600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr7:110838200-110839000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:110838200-110846600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:110838400-110838600	Enhancers	Right Ventricle	heart
25	chr7:110838400-110838800	Enhancers	A549	lung
26	chr7:110838400-110839000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:110838400-110839200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:110838400-110839200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:110838400-110839600	Enhancers	NHDF-Ad	bronchial
30	chr7:110838400-110840200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:110838600-110838800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr7:110838800-110864000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr7:110839000-110839200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:110839200-110839600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:110839600-110840000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:110842400-110842600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
37	chr7:110842600-110852000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr7:110844400-110853000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:110845800-110846000	Enhancers	Left Ventricle	heart
40	chr7:110846000-110864000	Weak transcription	Left Ventricle	heart
41	chr7:110848400-110853000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:110850000-110851800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr7:110850400-110851800	Enhancers	Osteobl	bone
44	chr7:110850800-110851400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:110850800-110851600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:110850800-110851600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:110851000-110851800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:110851000-110851800	Enhancers	HUVEC	blood vessel
49	chr7:110851200-110851600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr7:110851200-110851600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links