Variant report

Variant	nsv971219
Chromosome Location	chr7:121253389-121260183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:121256036..121257686-chr7:121260650..121262527,2	K562	blood:
2	chr7:121228016..121230487-chr7:121258279..121259858,2	K562	blood:
3	chr7:121252552..121255537-chr7:121259179..121261897,2	K562	blood:
4	chr7:121252552..121255537-chr7:121259179..121261897,2	K562	blood:

Extended variants
information (count: 244 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:244 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533145518	chr7:121253455-121253456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73429200	chr7:121253487-121253488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs562779110	chr7:121253496-121253497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531426377	chr7:121253517-121253518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79072279	chr7:121253547-121253548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536374162	chr7:121253617-121253618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533922377	chr7:121253665-121253666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189327949	chr7:121253673-121253674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34101347	chr7:121253771-121253772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192330970	chr7:121253784-121253785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184666371	chr7:121253811-121253812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs137996379	chr7:121253857-121253858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76554457	chr7:121253879-121253880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79593918	chr7:121253885-121253886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535683457	chr7:121253938-121253939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552784399	chr7:121253947-121253948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555884711	chr7:121253951-121253952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17143567	chr7:121253952-121253953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs541165248	chr7:121253975-121253976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142663888	chr7:121253990-121253991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577641039	chr7:121254002-121254003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12672487	chr7:121254014-121254015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189641109	chr7:121254020-121254021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146017146	chr7:121254071-121254072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180785011	chr7:121254072-121254073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186707001	chr7:121254084-121254085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs41529646	chr7:121254089-121254090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs148518214	chr7:121254100-121254101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536442091	chr7:121254102-121254103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570534723	chr7:121254131-121254132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539457221	chr7:121254134-121254135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17143570	chr7:121254142-121254143	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs570259108	chr7:121254203-121254204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536188422	chr7:121254221-121254222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116425086	chr7:121254228-121254229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369382393	chr7:121254230-121254231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189436435	chr7:121254233-121254234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534865972	chr7:121254315-121254316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557851454	chr7:121254323-121254324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577679897	chr7:121254324-121254325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141838010	chr7:121254390-121254391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146816507	chr7:121254419-121254420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557274806	chr7:121254432-121254433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528375599	chr7:121254436-121254437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373119617	chr7:121254441-121254442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573942571	chr7:121254471-121254472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542141800	chr7:121254473-121254474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150648179	chr7:121254487-121254488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546353255	chr7:121254577-121254578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115793744	chr7:121254611-121254612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	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
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121249200-121264600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:121250800-121257000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:121252600-121258000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:121257000-121257200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:121257200-121257400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:121258000-121258200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:121258200-121259200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:121259200-121259400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:121259400-121259800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:121259800-121261600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:121260000-121261200	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links