Variant report

Variant	nsv967454
Chromosome Location	chr7:12069700-12081150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 357 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561562173	chr7:12069733-12069734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527271142	chr7:12069749-12069750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552588633	chr7:12069782-12069783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574520093	chr7:12069806-12069807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546962006	chr7:12069810-12069811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548811177	chr7:12069853-12069854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568533339	chr7:12069881-12069882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368696893	chr7:12069883-12069884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142085289	chr7:12069915-12069916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554268296	chr7:12069932-12069933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570739656	chr7:12069982-12069983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570229060	chr7:12069990-12069991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539861691	chr7:12070007-12070008	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143065810	chr7:12070049-12070050	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182255432	chr7:12070059-12070060	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367866033	chr7:12070063-12070064	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575494724	chr7:12070101-12070102	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537606592	chr7:12070110-12070111	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554355982	chr7:12070132-12070133	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370269286	chr7:12070200-12070201	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574164356	chr7:12070232-12070233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541436243	chr7:12070255-12070256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374181542	chr7:12070259-12070260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372785216	chr7:12070285-12070286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367660718	chr7:12070298-12070299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4236266	chr7:12070338-12070339	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs560236736	chr7:12070392-12070393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112137863	chr7:12070412-12070413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576762888	chr7:12070440-12070441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545789859	chr7:12070460-12070461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12534856	chr7:12070485-12070486	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs2908734	chr7:12070537-12070538	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs2908733	chr7:12070555-12070556	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs73676201	chr7:12070560-12070561	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs148195023	chr7:12070606-12070607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187713869	chr7:12070670-12070671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570971141	chr7:12070675-12070676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539400943	chr7:12070696-12070697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4721021	chr7:12070727-12070728	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs58728100	chr7:12070735-12070736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577672295	chr7:12070766-12070767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572340383	chr7:12070778-12070779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192628061	chr7:12070790-12070791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140053796	chr7:12070796-12070797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558139888	chr7:12070803-12070804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114752671	chr7:12070829-12070830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553543377	chr7:12070926-12070927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576880802	chr7:12070985-12070986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6959203	chr7:12071001-12071002	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs185166418	chr7:12071035-12071036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12067600-12072600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:12069600-12069800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:12069600-12070000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:12069600-12070000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:12069600-12070000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr7:12069600-12070000	Enhancers	Pancreas	Pancrea
7	chr7:12069600-12070200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:12069600-12070200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:12069600-12070400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr7:12069600-12072200	Enhancers	NH-A	brain
11	chr7:12069600-12072600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:12069600-12072800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:12069600-12072800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:12069800-12070000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:12069800-12070000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:12069800-12070000	Enhancers	Placenta Amnion	Placenta Amnion
17	chr7:12069800-12070200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr7:12069800-12070200	Enhancers	HSMM	muscle
19	chr7:12069800-12071000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:12069800-12072800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:12070000-12070200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr7:12070000-12070200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:12070000-12070200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:12070000-12070200	Enhancers	NHEK	skin
25	chr7:12070000-12070800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr7:12070000-12071400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:12070000-12071600	Enhancers	NHLF	lung
28	chr7:12070000-12071800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:12070000-12071800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:12070200-12071000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr7:12070200-12071200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr7:12070200-12071400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:12070200-12071400	Weak transcription	HSMM	muscle
34	chr7:12070400-12071400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:12070400-12071400	Weak transcription	NHEK	skin
36	chr7:12070400-12077600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr7:12070800-12071000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:12070800-12071600	Enhancers	Placenta Amnion	Placenta Amnion
39	chr7:12071000-12071800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:12071200-12071600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr7:12071200-12072000	Enhancers	HUVEC	blood vessel
42	chr7:12071400-12071600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:12071400-12071800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:12071400-12072000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:12071400-12072000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:12071400-12072000	Enhancers	HSMM	muscle
47	chr7:12071400-12072000	Enhancers	NHEK	skin
48	chr7:12071400-12072200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:12071800-12072000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:12071800-12072000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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