Variant report

Variant	nsv1021128
Chromosome Location	chr7:17128963-17167825
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:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:17164984..17168606-chr7:17170506..17172201,3	K562	blood:
2	chr14:31026542..31028693-chr7:17140272..17142685,2	MCF-7	breast:
3	chr7:17132686..17134514-chr7:17337406..17339797,2	MCF-7	breast:
4	chr7:17101748..17103793-chr7:17132668..17134988,2	MCF-7	breast:
5	chr7:17136133..17137910-chr7:17145966..17147609,2	MCF-7	breast:
6	chr7:17167106..17169974-chr7:17169977..17172043,2	K562	blood:
7	chr7:17136133..17137910-chr7:17145966..17147609,2	MCF-7	breast:
8	chr7:17100496..17103422-chr7:17133231..17136201,2	MCF-7	breast:
9	chr7:17060484..17062454-chr7:17134581..17136153,2	MCF-7	breast:
10	chr7:17166582..17168256-chr7:17172777..17175258,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AHR-2	chr7:17133141-17133395	XLOC_005997

No data

Variant related genes	Relation type
ENSG00000106546	chromatin interactions
ENSG00000237773	chromatin interactions
ENSG00000092140	chromatin interactions

Extended variants
information (count: 1340 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1340 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11763187	chr7:17128963-17128964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544651813	chr7:17129083-17129084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559820669	chr7:17129106-17129107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571848657	chr7:17129116-17129117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146686041	chr7:17129124-17129125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561173885	chr7:17129133-17129134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531797405	chr7:17129141-17129142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544108128	chr7:17129143-17129144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115763389	chr7:17129241-17129242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7777784	chr7:17129266-17129267	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs547770203	chr7:17129268-17129269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567969502	chr7:17129287-17129288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566072755	chr7:17129316-17129317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140360608	chr7:17129330-17129331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376280805	chr7:17129335-17129336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111734944	chr7:17129352-17129353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181323849	chr7:17129353-17129354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536602571	chr7:17129354-17129355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370761306	chr7:17129361-17129362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113957611	chr7:17129390-17129391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114675767	chr7:17129406-17129407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374171172	chr7:17129425-17129426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370662963	chr7:17129443-17129444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538639487	chr7:17129446-17129447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76642933	chr7:17129535-17129536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10269823	chr7:17129549-17129550	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs368114869	chr7:17129568-17129569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372984918	chr7:17129582-17129583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145447001	chr7:17129622-17129623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576595616	chr7:17129639-17129640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370649633	chr7:17129670-17129671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185298294	chr7:17129689-17129690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77679021	chr7:17129758-17129759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532732503	chr7:17129772-17129773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536230826	chr7:17129792-17129793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10240786	chr7:17129799-17129800	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs7801215	chr7:17129802-17129803	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs530103774	chr7:17129808-17129809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138107911	chr7:17129822-17129823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149538524	chr7:17129835-17129836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531537517	chr7:17129840-17129841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549670030	chr7:17129873-17129874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571415003	chr7:17129907-17129908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538573855	chr7:17129944-17129945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190501994	chr7:17130025-17130026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565351992	chr7:17130035-17130036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577411442	chr7:17130090-17130091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535815411	chr7:17130093-17130094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181436049	chr7:17130113-17130114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554245166	chr7:17130114-17130115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	22495309	CNVD
Pancreatic cancer	17952125	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17128200-17134600	Weak transcription	Pancreas	Pancrea
2	chr7:17128600-17130400	Weak transcription	A549	lung
3	chr7:17129200-17129400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:17129400-17130400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:17129400-17131000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:17129600-17129800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:17129600-17131200	Enhancers	NHDF-Ad	bronchial
8	chr7:17129600-17131200	Enhancers	NHEK	skin
9	chr7:17129800-17133800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:17130000-17131200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:17130400-17130800	Enhancers	A549	lung
12	chr7:17130400-17131000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:17130400-17131000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr7:17130400-17131200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:17130400-17131200	Enhancers	NH-A	brain
16	chr7:17130400-17131200	Enhancers	Osteobl	bone
17	chr7:17130400-17136600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:17130600-17131000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:17130600-17131000	Enhancers	HMEC	breast
20	chr7:17130600-17131200	Enhancers	Hela-S3	cervix
21	chr7:17130600-17131200	Enhancers	NHLF	lung
22	chr7:17130800-17131200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:17130800-17131200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:17130800-17134600	Weak transcription	A549	lung
25	chr7:17131000-17131200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:17131000-17133400	Weak transcription	HMEC	breast
27	chr7:17131000-17133800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:17131000-17134200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:17131000-17134600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:17131000-17135000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:17131200-17132200	Weak transcription	NHEK	skin
32	chr7:17131200-17133600	Weak transcription	Hela-S3	cervix
33	chr7:17131200-17133800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:17131200-17134000	Weak transcription	Osteobl	bone
35	chr7:17131200-17134200	Weak transcription	NHDF-Ad	bronchial
36	chr7:17131200-17134400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:17131200-17134400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:17131200-17134800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:17132200-17137400	Enhancers	NHEK	skin
40	chr7:17133000-17133400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr7:17133000-17133600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr7:17133400-17135400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr7:17133400-17140000	Enhancers	HMEC	breast
44	chr7:17133600-17138800	Enhancers	Hela-S3	cervix
45	chr7:17133800-17136200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:17133800-17136800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:17133800-17139800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:17134000-17135800	Enhancers	Osteobl	bone
49	chr7:17134200-17134400	Enhancers	NHDF-Ad	bronchial
50	chr7:17134200-17137400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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