Variant report

Variant	nsv1019996
Chromosome Location	chr7:125561967-125602729
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:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:125598344..125601168-chr7:125601374..125603496,2	K562	blood:
2	chr7:125598344..125601168-chr7:125601374..125603496,2	K562	blood:
3	chr7:125574020..125576631-chr7:125579427..125582036,2	K562	blood:
4	chr7:125574020..125576631-chr7:125579427..125582036,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARF5-6	chr7:125573828-125573886	XLOC_006234
2	lnc-ARF5-6	chr7:125564266-125564441	XLOC_006234
3	lnc-ARF5-6	chr7:125563748-125564004	XLOC_006234

No data

Extended variants
information (count: 1653 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1653 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201986962	chr7:125561974-125561975	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs60569570	chr7:125561976-125561977	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs142949122	chr7:125561983-125561984	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs576298334	chr7:125561988-125561989	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs188079228	chr7:125561989-125561990	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs200383902	chr7:125562006-125562007	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs565307507	chr7:125562017-125562018	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs191424896	chr7:125562032-125562033	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs534748676	chr7:125562046-125562047	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs541167377	chr7:125562071-125562072	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs150662087	chr7:125562120-125562121	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs547156138	chr7:125562124-125562125	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs140433189	chr7:125562127-125562128	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs184678693	chr7:125562145-125562146	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs563802401	chr7:125562151-125562152	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs571583977	chr7:125562154-125562155	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs549498008	chr7:125562172-125562173	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs571262942	chr7:125562178-125562179	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs9886176	chr7:125562191-125562192	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs144273404	chr7:125562255-125562256	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565787262	chr7:125562324-125562325	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536414612	chr7:125562348-125562349	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200093230	chr7:125562351-125562352	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9886203	chr7:125562366-125562367	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374325345	chr7:125562369-125562370	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537384084	chr7:125562370-125562371	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201739441	chr7:125562374-125562375	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558670455	chr7:125562383-125562384	Weak transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576872113	chr7:125562403-125562404	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536786809	chr7:125562439-125562440	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541030299	chr7:125562501-125562502	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553015107	chr7:125562507-125562508	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34715575	chr7:125562533-125562534	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553591761	chr7:125562556-125562557	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111599413	chr7:125562585-125562586	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542036667	chr7:125562622-125562623	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563943041	chr7:125562650-125562651	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34459506	chr7:125562651-125562652	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs546520558	chr7:125562667-125562668	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564770789	chr7:125562668-125562669	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141076260	chr7:125562677-125562678	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532527334	chr7:125562696-125562697	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547435069	chr7:125562701-125562702	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201353156	chr7:125562750-125562751	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575539916	chr7:125562811-125562812	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565754770	chr7:125562826-125562827	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529845172	chr7:125562827-125562828	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548067708	chr7:125562850-125562851	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189512981	chr7:125562874-125562875	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182143278	chr7:125562887-125562888	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	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:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125558800-125562200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr7:125558800-125564000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:125559600-125564000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:125560200-125564200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:125561000-125563200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
6	chr7:125561800-125564000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:125562200-125564000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:125562400-125563000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:125563000-125564000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:125563200-125564000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:125563800-125564000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:125564000-125564200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:125564000-125564200	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr7:125564000-125564200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr7:125564000-125564200	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr7:125564000-125564200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr7:125564000-125564200	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr7:125564000-125564800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr7:125564000-125566000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:125564000-125566200	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr7:125564000-125566400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:125564000-125567400	Active TSS	H9 Cell Line	embryonic stem cell
23	chr7:125564000-125568000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:125564200-125564400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr7:125564200-125564400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:125564200-125564400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr7:125564200-125564600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr7:125564200-125564600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr7:125564200-125564600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr7:125564200-125565800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr7:125564200-125566600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:125564200-125568000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
33	chr7:125564400-125565600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:125564400-125565800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:125564400-125568000	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
36	chr7:125564600-125565000	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr7:125564600-125565000	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr7:125564600-125565400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr7:125564600-125565600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr7:125564800-125565800	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr7:125565000-125565400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr7:125565000-125565400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr7:125565400-125565600	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr7:125565400-125566600	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr7:125565400-125567200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr7:125565600-125565800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr7:125565600-125566000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:125565600-125566600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr7:125565600-125566600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr7:125565600-125566600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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