Variant report

Variant	nsv436533
Chromosome Location	chr7:126130550-126135725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:126133705-126138790..7:126890676-126899918	H1-hESC	embryonic stem cell:	embryo
2	7:126130122-126133705..7:126890676-126899918	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000179603	chromatin interactions

Extended variants
information (count: 170 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:170 , 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	rs371037087	chr7:126130570-126130571	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs79695485	chr7:126130591-126130592	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs192543745	chr7:126130609-126130610	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs559849090	chr7:126130846-126130847	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs17680718	chr7:126130872-126130873	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147088756	chr7:126130936-126130937	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs530364690	chr7:126130937-126130938	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs548780167	chr7:126131017-126131018	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561081678	chr7:126131053-126131054	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs138450857	chr7:126131092-126131093	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs142090128	chr7:126131247-126131248	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs549912376	chr7:126131361-126131362	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571110398	chr7:126131402-126131403	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538643438	chr7:126131406-126131407	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547110963	chr7:126131426-126131427	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs184322894	chr7:126131448-126131449	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189519150	chr7:126131483-126131484	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs536191969	chr7:126131487-126131488	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs554331273	chr7:126131502-126131503	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs575837921	chr7:126131505-126131506	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs537098506	chr7:126131511-126131512	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs28690859	chr7:126131554-126131555	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs577131261	chr7:126131569-126131570	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs541402759	chr7:126131588-126131589	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs73722628	chr7:126131615-126131616	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs551620950	chr7:126131621-126131622	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs575076463	chr7:126131625-126131626	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs192416301	chr7:126131673-126131674	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs184463338	chr7:126131684-126131685	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs111497779	chr7:126131688-126131689	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs188810417	chr7:126131701-126131702	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549875600	chr7:126131708-126131709	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541676630	chr7:126131714-126131715	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs532135271	chr7:126131782-126131783	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs547365464	chr7:126131801-126131802	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs141173292	chr7:126131833-126131834	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs2299446	chr7:126131868-126131869	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs548079167	chr7:126131876-126131877	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs150718868	chr7:126131890-126131891	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs116864565	chr7:126131934-126131935	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181353783	chr7:126131941-126131942	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs113022207	chr7:126132025-126132026	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558508023	chr7:126132118-126132119	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs570903682	chr7:126132120-126132121	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs534855135	chr7:126132131-126132132	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs553325003	chr7:126132161-126132162	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs565485197	chr7:126132247-126132248	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs574750751	chr7:126132261-126132262	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs10256505	chr7:126132263-126132264	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs557709939	chr7:126132274-126132275	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Autism	19246517	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126133200-126136600	Enhancers	Fetal Heart	heart
2	chr7:126133400-126134000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr7:126133600-126134400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:126134400-126135800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:126135200-126136000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:126135400-126136800	Active TSS	Right Ventricle	heart

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