Variant report

Variant	nsv5922
Chromosome Location	chr7:118124565-118178829
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:118140754..118143733-chr7:118144595..118146815,2	K562	blood:
2	chr7:118126613..118129053-chr7:118300054..118302327,2	K562	blood:
3	chr7:118134734..118137695-chr7:118137994..118140423,2	K562	blood:
4	chr7:118140754..118143733-chr7:118144595..118146815,2	K562	blood:
5	chr7:118134734..118137695-chr7:118137994..118140423,2	K562	blood:

Extended variants
information (count: 287 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537967624	chr7:118132608-118132609	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs556215607	chr7:118132625-118132626	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs181691689	chr7:118132655-118132656	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs184481912	chr7:118132679-118132680	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs542200967	chr7:118132681-118132682	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs39477	chr7:118132689-118132690	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535255809	chr7:118132746-118132747	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs572310282	chr7:118132781-118132782	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs546080574	chr7:118132821-118132822	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs564290586	chr7:118132853-118132854	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs531506792	chr7:118132854-118132855	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs143742393	chr7:118132861-118132862	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs561812231	chr7:118132868-118132869	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs375866297	chr7:118132870-118132871	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs578208539	chr7:118132876-118132877	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs528927335	chr7:118132890-118132891	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs39478	chr7:118132909-118132910	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs188842723	chr7:118132941-118132942	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs575956318	chr7:118132942-118132943	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs11393260	chr7:118132962-118132963	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs397822100	chr7:118132968-118132969	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs201993987	chr7:118132969-118132970	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs377424041	chr7:118132974-118132975	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs527991745	chr7:118132978-118132979	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs6466658	chr7:118133058-118133059	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs6466659	chr7:118133060-118133061	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs538035618	chr7:118133152-118133153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114165734	chr7:118133160-118133161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534115702	chr7:118133173-118133174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568539608	chr7:118133187-118133188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535534478	chr7:118133199-118133200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114909809	chr7:118133218-118133219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572317717	chr7:118133244-118133245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17141454	chr7:118133261-118133262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373389500	chr7:118133306-118133307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs39479	chr7:118133385-118133386	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs576344689	chr7:118133426-118133427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529873736	chr7:118133447-118133448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181277265	chr7:118133459-118133460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550002272	chr7:118133472-118133473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532959029	chr7:118133499-118133500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561684328	chr7:118133523-118133524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528993153	chr7:118133616-118133617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186324389	chr7:118133617-118133618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190832813	chr7:118133652-118133653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532743086	chr7:118133660-118133661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs39480	chr7:118133775-118133776	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs564433473	chr7:118133787-118133788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114371121	chr7:118133792-118133793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550355628	chr7:118133793-118133794	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118132600-118133000	Active TSS	Stomach Smooth Muscle	stomach
2	chr7:118132600-118133800	Enhancers	Fetal Brain Male	brain
3	chr7:118142000-118142200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:118142200-118142400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:118142400-118142600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:118142400-118142800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr7:118150600-118151000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:118151000-118151400	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr7:118151000-118151600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:118151000-118151600	Enhancers	Brain Hippocampus Middle	brain
11	chr7:118151600-118152600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:118156000-118158000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:118168600-118168800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:118176600-118176800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr7:118177200-118178200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:118177800-118178200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:118178200-118178800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:118178200-118179000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:118178400-118179000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:118178400-118179200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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