Variant report

Variant	nsv607708
Chromosome Location	chr7:83495880-83526743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 453 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:453 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373055242	chr7:83496887-83496888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571285943	chr7:83496917-83496918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572019493	chr7:83496934-83496935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186587680	chr7:83496978-83496979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73390587	chr7:83497018-83497019	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs111371547	chr7:83497026-83497027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575450919	chr7:83497057-83497058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542524695	chr7:83497086-83497087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144760434	chr7:83497092-83497093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554486549	chr7:83497171-83497172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572898136	chr7:83497182-83497183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540260234	chr7:83497187-83497188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565364846	chr7:83497225-83497226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10234657	chr7:83497236-83497237	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs181704488	chr7:83497262-83497263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185615598	chr7:83497289-83497290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6977444	chr7:83497294-83497295	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs536513779	chr7:83497319-83497320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370491527	chr7:83497322-83497323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs202181403	chr7:83497353-83497354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548892837	chr7:83497388-83497389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534678849	chr7:83497392-83497393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567200036	chr7:83497441-83497442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191046930	chr7:83497489-83497490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183310680	chr7:83497492-83497493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185769088	chr7:83497495-83497496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191223653	chr7:83497509-83497510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs17158289	chr7:83497525-83497526	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs550710915	chr7:83497539-83497540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183839759	chr7:83497574-83497575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377620938	chr7:83497580-83497581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73390590	chr7:83497585-83497586	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs112000473	chr7:83501878-83501879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373509184	chr7:83501879-83501880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs797637	chr7:83501891-83501892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs188394666	chr7:83501896-83501897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559453884	chr7:83501920-83501921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557490789	chr7:83501945-83501946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77777131	chr7:83501966-83501967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370028206	chr7:83501973-83501974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541099082	chr7:83502061-83502062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373223277	chr7:83502070-83502071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192233160	chr7:83502076-83502077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183682137	chr7:83502083-83502084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs797636	chr7:83502100-83502101	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs571913765	chr7:83502137-83502138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573879871	chr7:83502153-83502154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs797635	chr7:83502159-83502160	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs553196367	chr7:83502237-83502238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6467970	chr7:83502255-83502256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83496800-83497600	Enhancers	Brain Substantia Nigra	brain
2	chr7:83501800-83502600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:83502000-83502200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:83502600-83503400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:83502600-83503400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:83502600-83503600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:83502600-83504800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:83504400-83505200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:83504800-83505600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:83505200-83506000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:83505400-83506400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:83505400-83506800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:83505600-83506400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:83505800-83506200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:83505800-83506600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:83505800-83506600	Enhancers	HMEC	breast
17	chr7:83505800-83506600	Enhancers	NHDF-Ad	bronchial
18	chr7:83505800-83506600	Enhancers	NHEK	skin
19	chr7:83506000-83506400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:83506000-83506400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:83506000-83506600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr7:83506000-83506600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:83506000-83506600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:83506200-83506600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:83506200-83506600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:83506400-83506800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:83506400-83508600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:83506400-83511800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:83506600-83507800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:83506600-83511600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:83506600-83511600	Weak transcription	NHEK	skin
32	chr7:83506600-83511800	Weak transcription	HMEC	breast
33	chr7:83506800-83512000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:83507200-83510200	Enhancers	Fetal Lung	lung
35	chr7:83507800-83508000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:83507800-83509600	Enhancers	Colon Smooth Muscle	Colon
37	chr7:83508000-83509400	Enhancers	Rectal Smooth Muscle	rectum
38	chr7:83508600-83508800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:83508800-83509400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:83509400-83510200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:83511600-83512000	Enhancers	NHEK	skin
42	chr7:83511600-83512200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr7:83511600-83512200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:83511600-83512800	Enhancers	Brain Substantia Nigra	brain
45	chr7:83511800-83512200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr7:83511800-83512200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr7:83511800-83512200	Enhancers	Fetal Heart	heart
48	chr7:83511800-83512400	Enhancers	NH-A	brain
49	chr7:83511800-83512600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:83511800-83512600	Active TSS	Brain Angular Gyrus	brain

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