Variant report

Variant	nsv981822
Chromosome Location	chr7:125564741-125567979
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545678116	chr7:125564809-125564810	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs562745479	chr7:125564810-125564811	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs187172914	chr7:125564823-125564824	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs562234882	chr7:125564826-125564827	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs544227954	chr7:125564845-125564846	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs562805711	chr7:125564895-125564896	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs139551003	chr7:125564927-125564928	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs191279287	chr7:125564951-125564952	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs574512782	chr7:125564956-125564957	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs527821451	chr7:125564983-125564984	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs35082642	chr7:125564988-125564989	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs549544312	chr7:125565008-125565009	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs567808537	chr7:125565029-125565030	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs538435585	chr7:125565091-125565092	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs556537173	chr7:125565141-125565142	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs183467089	chr7:125565189-125565190	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs531624768	chr7:125565206-125565207	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs4298443	chr7:125565265-125565266	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs539015606	chr7:125565274-125565275	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs370030172	chr7:125565333-125565334	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs150925768	chr7:125565365-125565366	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs572590699	chr7:125565383-125565384	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs188192795	chr7:125565398-125565399	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs140902020	chr7:125565410-125565411	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs78428359	chr7:125565433-125565434	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs544405659	chr7:125565467-125565468	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs193220642	chr7:125565481-125565482	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs533287282	chr7:125565524-125565525	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs149737981	chr7:125565527-125565528	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs560512064	chr7:125565528-125565529	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs527782195	chr7:125565543-125565544	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs549161366	chr7:125565544-125565545	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs567756307	chr7:125565602-125565603	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs374549995	chr7:125565612-125565613	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs531775423	chr7:125565615-125565616	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs542176910	chr7:125565671-125565672	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs185661850	chr7:125565705-125565706	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs190174507	chr7:125565714-125565715	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs542017183	chr7:125565792-125565793	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs538984616	chr7:125565858-125565859	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs530130746	chr7:125565859-125565860	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs550955667	chr7:125565886-125565887	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs566179626	chr7:125565889-125565890	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs35243376	chr7:125565913-125565914	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs34783383	chr7:125565918-125565919	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs113569060	chr7:125566024-125566025	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537615990	chr7:125566058-125566059	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556422182	chr7:125566110-125566111	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62482670	chr7:125566116-125566117	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77533974	chr7:125566130-125566131	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Epilepsy	21635232	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	20858243	CNVD
Autism	20808228	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125564000-125564800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr7:125564000-125566000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:125564000-125566200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr7:125564000-125566400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:125564000-125567400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr7:125564000-125568000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:125564200-125565800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr7:125564200-125566600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:125564200-125568000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
10	chr7:125564400-125565600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:125564400-125565800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:125564400-125568000	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
13	chr7:125564600-125565000	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr7:125564600-125565000	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr7:125564600-125565400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:125564600-125565600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:125564800-125565800	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr7:125565000-125565400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr7:125565000-125565400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr7:125565400-125565600	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr7:125565400-125566600	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr7:125565400-125567200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr7:125565600-125565800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr7:125565600-125566000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:125565600-125566600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr7:125565600-125566600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:125565600-125566600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:125565800-125566200	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr7:125565800-125566200	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr7:125565800-125566600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr7:125565800-125567800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:125566000-125566200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:125566000-125567400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:125566200-125566400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:125566200-125566600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr7:125566200-125566600	Enhancers	NHEK	skin
37	chr7:125566200-125566800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr7:125566200-125567600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr7:125566200-125568000	Enhancers	HMEC	breast
40	chr7:125566400-125566600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:125566400-125566600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:125566400-125568400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:125566600-125566800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:125566600-125566800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:125566600-125567400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:125566600-125567600	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr7:125566600-125567600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr7:125566600-125567600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr7:125566600-125567600	Weak transcription	NHEK	skin
50	chr7:125566600-125574400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links