Variant report

Variant	nsv889183
Chromosome Location	chr7:125848851-125927493
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:13)
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	chr7:125870675..125872321-chr7:125874700..125877650,2	K562	blood:
2	chr7:125870675..125872321-chr7:125874700..125877650,2	K562	blood:
3	chr7:125842751..125845029-chr7:125853403..125855723,2	K562	blood:
4	chr7:125717773..125720293-chr7:125877157..125879096,2	K562	blood:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARF5-5	chr7:125891205-125891250	NONHSAT123116
2	lnc-ARF5-5	chr7:125870287-125870467	XLOC_006235
3	lnc-ARF5-5	chr7:125873591-125873666	XLOC_006235
4	lnc-ARF5-5	chr7:125873591-125873666	XLOC_006235
5	lnc-ARF5-5	chr7:125924175-125924216	XLOC_006235
6	lnc-ARF5-5	chr7:125886687-125886785	XLOC_006235
7	lnc-ARF5-5	chr7:125886687-125886768	NONHSAT123116
8	lnc-ARF5-5	chr7:125886687-125886768	XLOC_006235
9	lnc-ARF5-5	chr7:125924175-125924312	XLOC_006235
10	lnc-ARF5-5	chr7:125873713-125873937	NONHSAT123116
11	lnc-ARF5-5	chr7:125870287-125870467	XLOC_006235
12	lnc-ARF5-5	chr7:125873591-125873666	XLOC_006235
13	lnc-ARF5-5	chr7:125870287-125870467	XLOC_006235

No data

Variant related genes	Relation type
FBXO34	miRNA target sites
SLC33A1	miRNA target sites
SLC31A2	miRNA target sites
FBXO8	miRNA target sites
FBXW7	miRNA target sites
SLC30A7	miRNA target sites

Extended variants
information (count: 544 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:544 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75321738	chr7:125850601-125850602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369385847	chr7:125850615-125850616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116258815	chr7:125850616-125850617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs983860	chr7:125850635-125850636	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs536993342	chr7:125850656-125850657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535064133	chr7:125850659-125850660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186477689	chr7:125850675-125850676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377010027	chr7:125850681-125850682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200962696	chr7:125850707-125850708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544209827	chr7:125850737-125850738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73437080	chr7:125850794-125850795	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs577321953	chr7:125850801-125850802	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73437083	chr7:125850818-125850819	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs559953642	chr7:125850827-125850828	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527478114	chr7:125850916-125850917	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189732084	chr7:125850934-125850935	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180891310	chr7:125850936-125850937	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73437087	chr7:125850948-125850949	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs147909145	chr7:125850977-125850978	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532697033	chr7:125851030-125851031	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs552021163	chr7:125851045-125851046	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs77006465	chr7:125851049-125851050	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs75943685	chr7:125851080-125851081	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs536839091	chr7:125851085-125851086	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs184914861	chr7:125851100-125851101	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs570348493	chr7:125851130-125851131	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs141613008	chr7:125851152-125851153	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs555750043	chr7:125851198-125851199	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs116071941	chr7:125851233-125851234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544748110	chr7:125851251-125851252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553427645	chr7:125851258-125851259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571943099	chr7:125851309-125851310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190895622	chr7:125851322-125851323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560874639	chr7:125851384-125851385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150423497	chr7:125851395-125851396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145219821	chr7:125851397-125851398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564935735	chr7:125851433-125851434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565326222	chr7:125851442-125851443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116349059	chr7:125851456-125851457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77783360	chr7:125851485-125851486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149136247	chr7:125851487-125851488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530108014	chr7:125851537-125851538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548766723	chr7:125851540-125851541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570108963	chr7:125851555-125851556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76583231	chr7:125851569-125851570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117447323	chr7:125851593-125851594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375677743	chr7:125851595-125851596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183439702	chr7:125851611-125851612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570937018	chr7:125851653-125851654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187338019	chr7:125851698-125851699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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	20808228	CNVD
Autism	19246517	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125850600-125850800	Enhancers	GM12878-XiMat	blood
2	chr7:125850800-125851200	Flanking Active TSS	GM12878-XiMat	blood
3	chr7:125850800-125851800	Enhancers	HMEC	breast
4	chr7:125851000-125851200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:125851200-125852200	Enhancers	GM12878-XiMat	blood
6	chr7:125851200-125852400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:125851400-125854000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:125851800-125853400	Weak transcription	HMEC	breast
9	chr7:125852400-125854600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:125853400-125854400	Enhancers	HMEC	breast
11	chr7:125853800-125854600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:125858800-125859000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:125859000-125863800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:125863800-125864000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:125868000-125869000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:125868000-125869600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:125868000-125869600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:125868400-125868800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:125868400-125869400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:125871600-125871800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:125893800-125894000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:125893800-125894000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:125901800-125902200	Active TSS	GM12878-XiMat	blood
24	chr7:125904800-125905200	Enhancers	Spleen	Spleen
25	chr7:125905200-125905600	Active TSS	Spleen	Spleen
26	chr7:125915200-125916000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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