Variant report

Variant	nsv523812
Chromosome Location	chr7:126958628-126961533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:126959954..126961544-chr7:126962863..126965065,3	K562	blood:
2	7:126085913-126088095..7:126960843-126968648	GM12878	blood:
3	chr7:126954427..126956826-chr7:126958992..126960680,2	MCF-7	breast:
4	chr7:126959720..126961520-chr7:126963470..126965795,3	K562	blood:

Variant related genes	Relation type
ENSG00000179603	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536900318	chr7:126960898-126960899	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs149113210	chr7:126960918-126960919	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs73443747	chr7:126961000-126961001	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs376353110	chr7:126961012-126961013	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs370999563	chr7:126961027-126961028	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544378507	chr7:126961080-126961081	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534588657	chr7:126961167-126961168	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142199294	chr7:126961170-126961171	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574439975	chr7:126961220-126961221	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191412113	chr7:126961230-126961231	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs151207285	chr7:126961231-126961232	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs374761540	chr7:126961236-126961237	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200943276	chr7:126961252-126961253	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556805206	chr7:126961285-126961286	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs574780589	chr7:126961342-126961343	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs182527531	chr7:126961350-126961351	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs546458279	chr7:126961370-126961371	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs564764754	chr7:126961373-126961374	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371520004	chr7:126961383-126961384	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186993879	chr7:126961388-126961389	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560469585	chr7:126961403-126961404	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs140271749	chr7:126961425-126961426	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375098565	chr7:126961511-126961512	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs6467120	chr7:126961533-126961534	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:83)

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
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
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
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126961000-126962400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr7:126961400-126962600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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