Variant report

Variant	nsv887626
Chromosome Location	chr7:12119520-12151476
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12141476..12143998-chr7:12145729..12148661,2	K562	blood:
2	chr7:12123423..12125399-chr7:12251986..12253800,2	K562	blood:
3	chr7:12145843..12148513-chr7:12148984..12150865,2	MCF-7	breast:
4	chr7:12145843..12148513-chr7:12148984..12150865,2	MCF-7	breast:
5	chr7:12141476..12143998-chr7:12145729..12148661,2	K562	blood:

Extended variants
information (count: 1376 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1376 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17648860	chr7:12119520-12119521	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs202135659	chr7:12119557-12119558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535257934	chr7:12119585-12119586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573044893	chr7:12119590-12119591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35194801	chr7:12119595-12119596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555774771	chr7:12119616-12119617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191470664	chr7:12119681-12119682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111516326	chr7:12119696-12119697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545825216	chr7:12119740-12119741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150054217	chr7:12119750-12119751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145353382	chr7:12119759-12119760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186299329	chr7:12119761-12119762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561897248	chr7:12119786-12119787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75592818	chr7:12119818-12119819	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17648896	chr7:12119858-12119859	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs373053366	chr7:12119859-12119860	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17648926	chr7:12119876-12119877	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs532909124	chr7:12119889-12119890	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6977621	chr7:12119917-12119918	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs569585238	chr7:12119924-12119925	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529571599	chr7:12119946-12119947	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540528777	chr7:12119948-12119949	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75631542	chr7:12119949-12119950	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35696558	chr7:12119961-12119962	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs73676328	chr7:12119962-12119963	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs191544331	chr7:12119964-12119965	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543722366	chr7:12119984-12119985	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557306866	chr7:12119993-12119994	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149189093	chr7:12120007-12120008	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202143804	chr7:12120036-12120037	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76021653	chr7:12120045-12120046	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7810235	chr7:12120057-12120058	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs540824023	chr7:12120063-12120064	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563981887	chr7:12120084-12120085	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549319549	chr7:12120085-12120086	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182200953	chr7:12120112-12120113	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186806299	chr7:12120117-12120118	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116166617	chr7:12120118-12120119	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139119759	chr7:12120154-12120155	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567164168	chr7:12120157-12120158	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559747071	chr7:12120171-12120172	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189761866	chr7:12120175-12120176	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534290756	chr7:12120184-12120185	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370139550	chr7:12120186-12120187	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141582299	chr7:12120194-12120195	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554165826	chr7:12120205-12120206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550768834	chr7:12120242-12120243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75560066	chr7:12120275-12120276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574174871	chr7:12120279-12120280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536211306	chr7:12120280-12120281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
T-cell lymphomas	22341440	CNVD

Chromatin state (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12115600-12130400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:12119000-12120400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr7:12119200-12119600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:12119400-12119800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr7:12119400-12122600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:12119600-12120200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:12119800-12120200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:12119800-12120200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr7:12119800-12120200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:12119800-12120200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr7:12120000-12120200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:12120200-12120400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:12120200-12121800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:12120200-12122200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:12120200-12122400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:12120200-12122800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:12120200-12122800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:12120400-12120800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:12120400-12122400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:12120800-12121000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:12121000-12122000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:12121800-12122000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:12122000-12122200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr7:12122000-12122800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:12122200-12122600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:12122200-12123400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:12122400-12123200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr7:12122400-12123200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr7:12122600-12123200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr7:12122600-12123200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr7:12122800-12123000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr7:12122800-12123200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr7:12122800-12123400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr7:12123200-12123400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr7:12127200-12142600	Weak transcription	Fetal Lung	lung
36	chr7:12129600-12130000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr7:12130000-12130200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr7:12130000-12130400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:12130000-12130400	Enhancers	Placenta	Placenta
40	chr7:12130000-12130600	Enhancers	Spleen	Spleen
41	chr7:12130000-12131200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr7:12130200-12130600	Enhancers	Placenta Amnion	Placenta Amnion
43	chr7:12130200-12131000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr7:12130200-12131600	Enhancers	Fetal Intestine Large	intestine
45	chr7:12130400-12130600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:12130400-12131000	Flanking Active TSS	Placenta	Placenta
47	chr7:12130400-12131200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:12130400-12131600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr7:12130400-12132200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr7:12130600-12130800	Active TSS	Duodenum Mucosa	Duodenum

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