Variant report

Variant	nsv608352
Chromosome Location	chr7:125566215-125624121
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:125598344..125601168-chr7:125601374..125603496,2	K562	blood:
2	chr7:125620692..125622990-chr7:125623881..125626292,2	K562	blood:
3	chr7:125574020..125576631-chr7:125579427..125582036,2	K562	blood:
4	chr7:125574020..125576631-chr7:125579427..125582036,2	K562	blood:
5	chr7:125606198..125608530-chr7:125608776..125611774,2	K562	blood:
6	chr7:125620692..125622990-chr7:125623881..125626292,2	K562	blood:
7	chr7:125606198..125608530-chr7:125608776..125611774,2	K562	blood:
8	chr7:125598344..125601168-chr7:125601374..125603496,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARF5-6	chr7:125573828-125573886	XLOC_006234

No data

Extended variants
information (count: 2234 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:2234 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1419557	chr7:125566215-125566216	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs1419558	chr7:125566226-125566227	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs550089208	chr7:125566254-125566255	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1419560	chr7:125566293-125566294	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs76273845	chr7:125566308-125566309	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76429659	chr7:125566311-125566312	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567678537	chr7:125566335-125566336	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73722429	chr7:125566336-125566337	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566077884	chr7:125566340-125566341	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533557139	chr7:125566346-125566347	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117292901	chr7:125566358-125566359	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576857291	chr7:125566375-125566376	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61263055	chr7:125566439-125566440	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569200402	chr7:125566518-125566519	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539779116	chr7:125566530-125566531	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539556346	chr7:125566532-125566533	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550584245	chr7:125566535-125566536	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556389579	chr7:125566538-125566539	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181298494	chr7:125566541-125566542	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538844056	chr7:125566566-125566567	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554072514	chr7:125566600-125566601	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs572324732	chr7:125566614-125566615	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs146726488	chr7:125566615-125566616	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs569172186	chr7:125566640-125566641	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs561365346	chr7:125566643-125566644	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs372676356	chr7:125566653-125566654	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs543945284	chr7:125566683-125566684	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs190858536	chr7:125566687-125566688	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs375197496	chr7:125566736-125566737	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs78520622	chr7:125566859-125566860	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs547602150	chr7:125566875-125566876	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs559591793	chr7:125566889-125566890	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs115745271	chr7:125566904-125566905	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs548686728	chr7:125566906-125566907	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs183978239	chr7:125566916-125566917	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs111921850	chr7:125566932-125566933	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs534215001	chr7:125566944-125566945	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs140319514	chr7:125566957-125566958	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs145441077	chr7:125566961-125566962	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs1419547	chr7:125566977-125566978	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs540263445	chr7:125567034-125567035	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs554036254	chr7:125567046-125567047	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs73722430	chr7:125567083-125567084	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs76548552	chr7:125567087-125567088	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs539251823	chr7:125567088-125567089	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs148948793	chr7:125567117-125567118	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs62482671	chr7:125567136-125567137	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs371388524	chr7:125567138-125567139	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs372028664	chr7:125567140-125567141	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs143673437	chr7:125567166-125567167	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	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:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125564000-125566400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:125564000-125567400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr7:125564000-125568000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:125564200-125566600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:125564200-125568000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
6	chr7:125564400-125568000	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
7	chr7:125565400-125566600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr7:125565400-125567200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr7:125565600-125566600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:125565600-125566600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:125565600-125566600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:125565800-125566600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr7:125565800-125567800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:125566000-125567400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:125566200-125566400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:125566200-125566600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr7:125566200-125566600	Enhancers	NHEK	skin
18	chr7:125566200-125566800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr7:125566200-125567600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr7:125566200-125568000	Enhancers	HMEC	breast
21	chr7:125566400-125566600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:125566400-125566600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:125566400-125568400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:125566600-125566800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:125566600-125566800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:125566600-125567400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:125566600-125567600	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr7:125566600-125567600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:125566600-125567600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr7:125566600-125567600	Weak transcription	NHEK	skin
31	chr7:125566600-125574400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:125566800-125567000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:125566800-125567200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:125566800-125568800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr7:125567000-125567200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:125567200-125567800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:125567200-125568000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:125567200-125569800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr7:125567400-125567600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:125567400-125568000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr7:125567400-125568200	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
42	chr7:125567400-125568200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:125567600-125567800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr7:125567600-125567800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr7:125567600-125568000	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr7:125567600-125568000	Enhancers	Fetal Brain Male	brain
47	chr7:125567600-125568000	Enhancers	Fetal Brain Female	brain
48	chr7:125567600-125568000	Enhancers	NHEK	skin
49	chr7:125567600-125568200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:125567600-125568800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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