Variant report

Variant	nsv888613
Chromosome Location	chr7:83331315-83403157
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 799 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:799 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs302127	chr7:83331315-83331316	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551168223	chr7:83331341-83331342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113247539	chr7:83331375-83331376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571060561	chr7:83331471-83331472	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533908950	chr7:83331489-83331490	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73708548	chr7:83331511-83331512	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567288536	chr7:83331557-83331558	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs80064005	chr7:83331595-83331596	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375981905	chr7:83331610-83331611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576018167	chr7:83331635-83331636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546165528	chr7:83331638-83331639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569117929	chr7:83331683-83331684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558407108	chr7:83331684-83331685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186730866	chr7:83331696-83331697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs578086693	chr7:83331709-83331710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540757575	chr7:83331758-83331759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533289636	chr7:83331785-83331786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77860032	chr7:83331787-83331788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529339509	chr7:83331831-83331832	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542600482	chr7:83331837-83331838	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538255940	chr7:83331846-83331847	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561680900	chr7:83331851-83331852	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375645041	chr7:83331882-83331883	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547587	chr7:83331883-83331884	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs190901282	chr7:83331953-83331954	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184003797	chr7:83331975-83331976	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188945471	chr7:83331987-83331988	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs193153119	chr7:83332010-83332011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547497619	chr7:83332011-83332012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184561888	chr7:83332012-83332013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564265114	chr7:83332148-83332149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73384587	chr7:83332221-83332222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114889863	chr7:83332241-83332242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569642926	chr7:83332271-83332272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187032799	chr7:83332296-83332297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76945659	chr7:83332297-83332298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558476005	chr7:83332324-83332325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs578147138	chr7:83332353-83332354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564184276	chr7:83332377-83332378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139228164	chr7:83332383-83332384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191844920	chr7:83332385-83332386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184268136	chr7:83332412-83332413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574057713	chr7:83332418-83332419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542663870	chr7:83332436-83332437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369266830	chr7:83332487-83332488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189391780	chr7:83332496-83332497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12113156	chr7:83332518-83332519	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs1019011	chr7:83332522-83332523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527527803	chr7:83332525-83332526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373482648	chr7:83332532-83332533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83319600-83331600	Weak transcription	Fetal Lung	lung
2	chr7:83328200-83335800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:83328600-83333800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:83330800-83331400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:83331000-83332400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:83331200-83331400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:83331200-83331600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:83331200-83332600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:83331400-83331600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:83331600-83331800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:83331600-83332000	Enhancers	Fetal Lung	lung
12	chr7:83331800-83332000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:83331800-83332400	Enhancers	Brain Hippocampus Middle	brain
14	chr7:83332000-83332400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:83332400-83333600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:83333800-83334400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:83334000-83334200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:83334000-83334200	Enhancers	HMEC	breast
19	chr7:83335800-83336000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:83336000-83338200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:83338200-83338400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:83338200-83338600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:83339800-83340400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr7:83340000-83340400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:83358000-83358400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:83358400-83359800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:83359800-83360000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:83359800-83360200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:83360000-83361000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr7:83360200-83360800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:83360200-83361400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:83360200-83361800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:83360400-83360600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr7:83360400-83360600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr7:83360400-83360800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr7:83360400-83360800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
37	chr7:83361400-83362400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:83361600-83361800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
39	chr7:83361600-83362000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:83361600-83362200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr7:83361600-83362200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:83361600-83362200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:83361800-83362200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
44	chr7:83361800-83362200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:83361800-83363800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:83362200-83367400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr7:83366200-83367600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:83366400-83368200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:83366600-83367600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr7:83366600-83367600	Enhancers	HUES6 Cell Line	embryonic stem cell

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