Variant report

Variant	esv19414
Chromosome Location	chr7:125558328-125562966
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARF5-6	chr7:125560111-125560207	XLOC_006234

Extended variants
information (count: 274 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548353535	chr7:125558346-125558347	Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs569950775	chr7:125558354-125558355	Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs531100772	chr7:125558355-125558356	Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs370810045	chr7:125558390-125558391	Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs201158397	chr7:125558401-125558402	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs146623774	chr7:125558417-125558418	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs184997869	chr7:125558432-125558433	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs572732823	chr7:125558481-125558482	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs565750564	chr7:125558484-125558485	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs140176181	chr7:125558511-125558512	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs554786417	chr7:125558514-125558515	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs187445897	chr7:125558520-125558521	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs537349014	chr7:125558529-125558530	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs558524974	chr7:125558534-125558535	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs577075765	chr7:125558560-125558561	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs113739434	chr7:125558580-125558581	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs78111225	chr7:125558585-125558586	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs371473719	chr7:125558604-125558605	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs531860864	chr7:125558608-125558609	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs572134349	chr7:125558616-125558617	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs541961287	chr7:125558622-125558623	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs563537887	chr7:125558637-125558638	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs115226538	chr7:125558638-125558639	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs552750994	chr7:125558643-125558644	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs117896712	chr7:125558651-125558652	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs143847737	chr7:125558677-125558678	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs66814160	chr7:125558682-125558683	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs192290777	chr7:125558683-125558684	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs55674722	chr7:125558688-125558689	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs184707135	chr7:125558690-125558691	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs548350624	chr7:125558698-125558699	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs569769925	chr7:125558704-125558705	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs77171599	chr7:125558725-125558726	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs190022777	chr7:125558766-125558767	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs558732776	chr7:125558777-125558778	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs577041681	chr7:125558850-125558851	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534952163	chr7:125558894-125558895	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201969881	chr7:125558910-125558911	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181282556	chr7:125558920-125558921	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200072875	chr7:125558926-125558927	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574539918	chr7:125558939-125558940	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541826645	chr7:125559032-125559033	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563403850	chr7:125559043-125559044	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563913159	chr7:125559045-125559046	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575711527	chr7:125559048-125559049	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200974647	chr7:125559051-125559052	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57510296	chr7:125559083-125559084	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs386717567	chr7:125559086-125559087	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs60049718	chr7:125559087-125559088	Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148854789	chr7:125559096-125559097	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125558000-125558800	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr7:125558000-125559600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr7:125558000-125560600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
4	chr7:125558400-125558800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:125558800-125562200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:125558800-125564000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:125559200-125559600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr7:125559600-125561200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:125559600-125564000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:125560000-125560200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr7:125560200-125564200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr7:125560600-125561000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr7:125561000-125563200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
14	chr7:125561200-125561800	Active TSS	H9 Cell Line	embryonic stem cell
15	chr7:125561800-125564000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:125562200-125564000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr7:125562400-125563000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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