Variant report

Variant	nsv470355
Chromosome Location	chr7:83505391-83533954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 285 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:285 , 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	rs11981075	chr7:83505392-83505393	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576667925	chr7:83505490-83505491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200678081	chr7:83505558-83505559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144906100	chr7:83505564-83505565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567983115	chr7:83505569-83505570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368509366	chr7:83505599-83505600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536559989	chr7:83505652-83505653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374801803	chr7:83505653-83505654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566600371	chr7:83505685-83505686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189718535	chr7:83505696-83505697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545485174	chr7:83505698-83505699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115222593	chr7:83505716-83505717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201189748	chr7:83505723-83505724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114240313	chr7:83505724-83505725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143086384	chr7:83505776-83505777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568584062	chr7:83505802-83505803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536029738	chr7:83505807-83505808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565285838	chr7:83505830-83505831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181858033	chr7:83505831-83505832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572612134	chr7:83505866-83505867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6972949	chr7:83505906-83505907	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs558216250	chr7:83505913-83505914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147712831	chr7:83505916-83505917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187640997	chr7:83505918-83505919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112678847	chr7:83505920-83505921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574194928	chr7:83505947-83505948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191512241	chr7:83505974-83505975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77076095	chr7:83505991-83505992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201884368	chr7:83505992-83505993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114442333	chr7:83505994-83505995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79682513	chr7:83506008-83506009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142543063	chr7:83506010-83506011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76034841	chr7:83506050-83506051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116076448	chr7:83506135-83506136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139343004	chr7:83506164-83506165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1524330	chr7:83506171-83506172	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs547616903	chr7:83506172-83506173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183779402	chr7:83506227-83506228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539675666	chr7:83506272-83506273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558015560	chr7:83506273-83506274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566961651	chr7:83506361-83506362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372497647	chr7:83506364-83506365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576347486	chr7:83506365-83506366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369504174	chr7:83506370-83506371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537422459	chr7:83506373-83506374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569524947	chr7:83506392-83506393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115954751	chr7:83506423-83506424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541904620	chr7:83506432-83506433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560016494	chr7:83506439-83506440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572953828	chr7:83506461-83506462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83504800-83505600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:83505200-83506000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:83505400-83506400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:83505400-83506800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:83505600-83506400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:83505800-83506200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:83505800-83506600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:83505800-83506600	Enhancers	HMEC	breast
9	chr7:83505800-83506600	Enhancers	NHDF-Ad	bronchial
10	chr7:83505800-83506600	Enhancers	NHEK	skin
11	chr7:83506000-83506400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:83506000-83506400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:83506000-83506600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:83506000-83506600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:83506000-83506600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:83506200-83506600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:83506200-83506600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:83506400-83506800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:83506400-83508600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:83506400-83511800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:83506600-83507800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:83506600-83511600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:83506600-83511600	Weak transcription	NHEK	skin
24	chr7:83506600-83511800	Weak transcription	HMEC	breast
25	chr7:83506800-83512000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:83507200-83510200	Enhancers	Fetal Lung	lung
27	chr7:83507800-83508000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:83507800-83509600	Enhancers	Colon Smooth Muscle	Colon
29	chr7:83508000-83509400	Enhancers	Rectal Smooth Muscle	rectum
30	chr7:83508600-83508800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:83508800-83509400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:83509400-83510200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:83511600-83512000	Enhancers	NHEK	skin
34	chr7:83511600-83512200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr7:83511600-83512200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:83511600-83512800	Enhancers	Brain Substantia Nigra	brain
37	chr7:83511800-83512200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr7:83511800-83512200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr7:83511800-83512200	Enhancers	Fetal Heart	heart
40	chr7:83511800-83512400	Enhancers	NH-A	brain
41	chr7:83511800-83512600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:83511800-83512600	Active TSS	Brain Angular Gyrus	brain
43	chr7:83511800-83512600	Active TSS	Brain Cingulate Gyrus	brain
44	chr7:83511800-83512600	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr7:83511800-83512600	Enhancers	HMEC	breast
46	chr7:83511800-83512800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:83512000-83512400	Active TSS	Brain Hippocampus Middle	brain
48	chr7:83512000-83512600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:83512000-83512800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr7:83512400-83512600	Enhancers	Brain Anterior Caudate	brain

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