Variant report

Variant	nsv971569
Chromosome Location	chr7:126354720-126359366
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:126341125..126342675-chr7:126352526..126355240,2	K562	blood:
2	7:126085913-126088095..7:126358358-126363704	GM12878	blood:
3	7:126085913-126088095..7:126352172-126357573	GM12878	blood:
4	chr7:126354910..126358134-chr7:126363262..126365444,3	K562	blood:
5	chr7:126354910..126357333-chr7:126363262..126365444,2	K562	blood:
6	7:126358358-126363704..7:127009457-127018926	GM12878	blood:
7	chr7:126359092..126361580-chr7:126364293..126366745,2	K562	blood:

Variant related genes	Relation type
ENSG00000179603	chromatin interactions
ENSG00000048405	chromatin interactions

Extended variants
information (count: 158 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370970774	chr7:126354745-126354746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs562881142	chr7:126354760-126354761	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs536437213	chr7:126354776-126354777	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368383466	chr7:126354788-126354789	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs185610624	chr7:126354817-126354818	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs543485232	chr7:126354848-126354849	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145501616	chr7:126354879-126354880	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs375491756	chr7:126354881-126354882	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs201770024	chr7:126354894-126354895	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs190015183	chr7:126354974-126354975	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs75246815	chr7:126354985-126354986	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs578036736	chr7:126355013-126355014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs6467096	chr7:126355033-126355034	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs77646277	chr7:126355064-126355065	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs147691564	chr7:126355086-126355087	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs142367175	chr7:126355094-126355095	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554114439	chr7:126355103-126355104	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs373904003	chr7:126355112-126355113	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs73449083	chr7:126355180-126355181	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs150187687	chr7:126355191-126355192	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs571394712	chr7:126355218-126355219	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs532132261	chr7:126355260-126355261	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547118840	chr7:126355269-126355270	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs182653242	chr7:126355302-126355303	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs565679226	chr7:126355306-126355307	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs376843840	chr7:126355333-126355334	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs376319372	chr7:126355368-126355369	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs116642775	chr7:126355406-126355407	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554466309	chr7:126355478-126355479	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs569480975	chr7:126355491-126355492	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs145695444	chr7:126355507-126355508	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558620807	chr7:126355537-126355538	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs577304690	chr7:126355603-126355604	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs541521530	chr7:126355671-126355672	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs188798603	chr7:126355714-126355715	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs77452608	chr7:126355717-126355718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs149011201	chr7:126355718-126355719	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs539902642	chr7:126355786-126355787	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs192185095	chr7:126355797-126355798	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs546468345	chr7:126355850-126355851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564983560	chr7:126355887-126355888	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs532070020	chr7:126355916-126355917	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs10244102	chr7:126356001-126356002	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565515250	chr7:126356131-126356132	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs183497946	chr7:126356138-126356139	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs1468157	chr7:126356151-126356152	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs545300808	chr7:126356258-126356259	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs536837464	chr7:126356300-126356301	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs10232001	chr7:126356347-126356348	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs560708561	chr7:126356355-126356356	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126342000-126367800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:126355000-126355600	Enhancers	HSMM	muscle
3	chr7:126356200-126356800	Enhancers	NHEK	skin
4	chr7:126356400-126357200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:126358600-126361200	Enhancers	GM12878-XiMat	blood

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