Variant report

Variant	nsv1021796
Chromosome Location	chr7:13227179-13252832
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:13234900..13236421-chr7:13245231..13247186,2	K562	blood:
2	chr7:13209664..13212376-chr7:13237521..13239228,2	K562	blood:
3	chr7:13232632..13234928-chr7:13240962..13243644,2	K562	blood:
4	chr7:13232632..13234928-chr7:13240962..13243644,2	K562	blood:
5	chr7:13234900..13236421-chr7:13245231..13247186,2	K562	blood:
6	chr7:13234533..13236633-chr7:13288975..13291281,2	K562	blood:

Extended variants
information (count: 942 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:942 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12668466	chr7:13227210-13227211	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs151312873	chr7:13227284-13227285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566567692	chr7:13227320-13227321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12666192	chr7:13227326-13227327	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs17166876	chr7:13227342-13227343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372001770	chr7:13227347-13227348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558866694	chr7:13227361-13227362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377143737	chr7:13227389-13227390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192482169	chr7:13227396-13227397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544921179	chr7:13227406-13227407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73679104	chr7:13227413-13227414	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574497249	chr7:13227422-13227423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140593804	chr7:13227437-13227438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560216421	chr7:13227505-13227506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145915518	chr7:13227543-13227544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182617994	chr7:13227544-13227545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562339250	chr7:13227573-13227574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78770135	chr7:13227578-13227579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548087332	chr7:13227595-13227596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138509546	chr7:13227656-13227657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12666706	chr7:13227685-13227686	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs113995170	chr7:13227725-13227726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79157238	chr7:13227755-13227756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538746071	chr7:13227809-13227810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193220840	chr7:13227852-13227853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375688466	chr7:13227864-13227865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs66927161	chr7:13227886-13227887	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs538403711	chr7:13227906-13227907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547694951	chr7:13227907-13227908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575159890	chr7:13227927-13227928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531000304	chr7:13227928-13227929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185260515	chr7:13227965-13227966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566194005	chr7:13227968-13227969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553473765	chr7:13228003-13228004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533624775	chr7:13228011-13228012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576917038	chr7:13228019-13228020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145297425	chr7:13228022-13228023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189056199	chr7:13228040-13228041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192035457	chr7:13228050-13228051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541594490	chr7:13228059-13228060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561673810	chr7:13228091-13228092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75185199	chr7:13228095-13228096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs202122050	chr7:13228128-13228129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs397794160	chr7:13228129-13228130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527573489	chr7:13228133-13228134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370340764	chr7:13228135-13228136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566751236	chr7:13228143-13228144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532493973	chr7:13228148-13228149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552715516	chr7:13228200-13228201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184141618	chr7:13228202-13228203	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	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
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13227200-13228400	Enhancers	Fetal Brain Female	brain
2	chr7:13227400-13229400	Enhancers	Fetal Brain Male	brain
3	chr7:13228400-13228600	Weak transcription	Fetal Brain Female	brain
4	chr7:13228600-13229000	Enhancers	Fetal Brain Female	brain
5	chr7:13228600-13230000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:13229400-13230400	Weak transcription	Fetal Brain Male	brain
7	chr7:13230400-13230600	Enhancers	Fetal Brain Male	brain
8	chr7:13232600-13233000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr7:13232600-13233000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:13233000-13236200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:13236200-13236600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr7:13236200-13236800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:13236800-13237200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:13236800-13238400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr7:13236800-13239400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:13237000-13238400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:13237000-13239000	Enhancers	Hela-S3	cervix
18	chr7:13237000-13239200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:13237200-13237800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:13237200-13238200	Enhancers	NHEK	skin
21	chr7:13237200-13240600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr7:13237400-13237800	Enhancers	NH-A	brain
23	chr7:13237400-13237800	Enhancers	Osteobl	bone
24	chr7:13237600-13238200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:13238200-13238600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:13238600-13239000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:13238800-13239600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:13240600-13241000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:13241000-13241600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr7:13241600-13243000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:13243000-13244400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr7:13250800-13251000	Enhancers	Pancreas	Pancrea
33	chr7:13251000-13258400	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links