Variant report

Variant	nsv1030309
Chromosome Location	chr7:125567174-125593410
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:125574020..125576631-chr7:125579427..125582036,2	K562	blood:
2	chr7:125574020..125576631-chr7:125579427..125582036,2	K562	blood:

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

Extended variants
information (count: 1096 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1096 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568837504	chr7:125567192-125567193	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs142931165	chr7:125567219-125567220	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs57624150	chr7:125567229-125567230	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs532483108	chr7:125567231-125567232	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs187361011	chr7:125567400-125567401	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs541205881	chr7:125567429-125567430	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs563514033	chr7:125567458-125567459	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs191812813	chr7:125567505-125567506	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs117600204	chr7:125567506-125567507	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs1468200	chr7:125567520-125567521	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs530317554	chr7:125567538-125567539	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs61275762	chr7:125567571-125567572	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs563836423	chr7:125567596-125567597	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs531301050	chr7:125567615-125567616	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs549822482	chr7:125567617-125567618	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs571341806	chr7:125567642-125567643	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs562708934	chr7:125567651-125567652	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs531798148	chr7:125567656-125567657	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs546147424	chr7:125567685-125567686	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs564393055	chr7:125567765-125567766	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs532277296	chr7:125567808-125567809	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs547602633	chr7:125567816-125567817	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs183060902	chr7:125567828-125567829	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs148076990	chr7:125567845-125567846	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs548200216	chr7:125567855-125567856	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs569870027	chr7:125567857-125567858	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs142021478	chr7:125567865-125567866	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs558558571	chr7:125567866-125567867	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs576911355	chr7:125567898-125567899	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs376640394	chr7:125567905-125567906	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs370930972	chr7:125567916-125567917	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs116479070	chr7:125567925-125567926	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs540230035	chr7:125567934-125567935	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs548427738	chr7:125567940-125567941	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs187393014	chr7:125567941-125567942	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs200032147	chr7:125567970-125567971	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs146884985	chr7:125567999-125568000	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs369930540	chr7:125568078-125568079	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191517208	chr7:125568110-125568111	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534551494	chr7:125568222-125568223	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576033764	chr7:125568260-125568261	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115330320	chr7:125568261-125568262	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182587583	chr7:125568288-125568289	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139255650	chr7:125568293-125568294	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569531748	chr7:125568325-125568326	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35675276	chr7:125568335-125568336	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs57587365	chr7:125568337-125568338	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1419551	chr7:125568403-125568404	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs537174858	chr7:125568409-125568410	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550749013	chr7:125568424-125568425	Weak transcription Enhancers Strong transcription Genic 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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125564000-125567400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr7:125564000-125568000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:125564200-125568000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
4	chr7:125564400-125568000	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
5	chr7:125565400-125567200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr7:125565800-125567800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:125566000-125567400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:125566200-125567600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr7:125566200-125568000	Enhancers	HMEC	breast
10	chr7:125566400-125568400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:125566600-125567400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:125566600-125567600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr7:125566600-125567600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:125566600-125567600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:125566600-125567600	Weak transcription	NHEK	skin
16	chr7:125566600-125574400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:125566800-125567200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:125566800-125568800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:125567000-125567200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:125567200-125567800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:125567200-125568000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:125567200-125569800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr7:125567400-125567600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:125567400-125568000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr7:125567400-125568200	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
26	chr7:125567400-125568200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:125567600-125567800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr7:125567600-125567800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr7:125567600-125568000	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr7:125567600-125568000	Enhancers	Fetal Brain Male	brain
31	chr7:125567600-125568000	Enhancers	Fetal Brain Female	brain
32	chr7:125567600-125568000	Enhancers	NHEK	skin
33	chr7:125567600-125568200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:125567600-125568800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:125567800-125568000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:125567800-125568000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:125567800-125570800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:125567800-125581600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:125568000-125568200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr7:125568000-125568200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr7:125568000-125568800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:125568000-125569400	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr7:125568000-125573800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:125568000-125576400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:125568200-125568400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
46	chr7:125568200-125568800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr7:125568200-125569000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:125568200-125569400	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr7:125568400-125571200	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:125568800-125581400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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