Variant report

Variant	nsv1012574
Chromosome Location	chr4:62844264-62954187
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:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:46125562..46126313-chr4:62947934..62948914,2	Hela-S3	cervix:
2	chr4:62841222..62843629-chr4:62843695..62846444,2	K562	blood:
3	chr4:62849102..62851179-chr4:62851262..62853932,2	MCF-7	breast:
4	chr4:62849102..62851179-chr4:62851262..62853932,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TECRL-4	chr4:62947690-62947770	ENSG00000248692.1
2	lnc-TECRL-4	chr4:62938565-62938595	ENSG00000248692.1
3	lnc-LPHN3-8	chr4:62941880-62944064	NONHSAT096618
4	lnc-TECRL-4	chr4:62938471-62938595	ENSG00000248692.1
5	lnc-TECRL-4	chr4:62937473-62937497	ENSG00000248692.1
6	lnc-TECRL-4	chr4:62938471-62938595	ENSG00000248692.1
7	lnc-TECRL-4	chr4:62937470-62937497	ENSG00000248692.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	LPHN3	hsa-miR-20a-5p	chr4:62937510-62937532

Variant related genes	Relation type
ENSG00000082641	chromatin interactions

Extended variants
information (count: 3439 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:3439 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188000074	chr4:62844264-62844265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574624380	chr4:62844274-62844275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374297968	chr4:62844275-62844276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570326515	chr4:62844331-62844332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561079336	chr4:62844332-62844333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184726183	chr4:62844358-62844359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549784447	chr4:62844381-62844382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10030755	chr4:62844408-62844409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs530874239	chr4:62844409-62844410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549772419	chr4:62844419-62844420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532701560	chr4:62844445-62844446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187603096	chr4:62844491-62844492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192083634	chr4:62844500-62844501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142340765	chr4:62844523-62844524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201587727	chr4:62844592-62844593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201093205	chr4:62844593-62844594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs202207796	chr4:62844594-62844595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184967440	chr4:62844595-62844596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372960236	chr4:62844604-62844605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528539486	chr4:62844665-62844666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537112036	chr4:62844686-62844687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561929032	chr4:62844725-62844726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189347052	chr4:62844735-62844736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs578179343	chr4:62844830-62844831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534321513	chr4:62844831-62844832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546905159	chr4:62844840-62844841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553274096	chr4:62844894-62844895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571605844	chr4:62844946-62844947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574627321	chr4:62844947-62844948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541649772	chr4:62844970-62844971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556708997	chr4:62844975-62844976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576141201	chr4:62844999-62845000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543468775	chr4:62845028-62845029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565137105	chr4:62845112-62845113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532583986	chr4:62845141-62845142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541052565	chr4:62845144-62845145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560025212	chr4:62845187-62845188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530392048	chr4:62845242-62845243	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113629008	chr4:62845249-62845250	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2271337	chr4:62845250-62845251	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374953984	chr4:62845258-62845259	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367648564	chr4:62845271-62845272	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371508867	chr4:62845305-62845306	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548819427	chr4:62845364-62845365	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs151274984	chr4:62845381-62845382	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1397547	chr4:62845388-62845389	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs367855714	chr4:62845417-62845418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552348244	chr4:62845432-62845433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570445279	chr4:62845433-62845434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372021368	chr4:62845445-62845446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62802000-62852000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:62804600-62845200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr4:62824600-62877400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:62826400-62845200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:62836600-62853600	Weak transcription	Brain Substantia Nigra	brain
6	chr4:62836800-62854800	Weak transcription	Fetal Kidney	kidney
7	chr4:62838000-62845200	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:62838000-62851400	Weak transcription	Fetal Stomach	stomach
9	chr4:62841200-62867000	Weak transcription	Aorta	Aorta
10	chr4:62842400-62851400	Weak transcription	Brain Angular Gyrus	brain
11	chr4:62843200-62849000	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:62843600-62845200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:62843800-62859400	Weak transcription	Brain Anterior Caudate	brain
14	chr4:62844200-62845800	Weak transcription	Fetal Lung	lung
15	chr4:62844600-62845200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:62845000-62849600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr4:62845000-62858000	Weak transcription	Fetal Brain Male	brain
18	chr4:62845200-62845400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:62845200-62846000	Strong transcription	Fetal Muscle Leg	muscle
20	chr4:62845200-62846400	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr4:62845200-62846600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:62845200-62850800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:62845200-62851200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr4:62845400-62846800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:62845800-62846600	Strong transcription	Fetal Lung	lung
26	chr4:62846000-62859000	Weak transcription	Fetal Muscle Leg	muscle
27	chr4:62846200-62850000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:62846400-62857800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr4:62846600-62849000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr4:62846600-62851800	Weak transcription	Fetal Lung	lung
31	chr4:62846800-62862600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:62848800-62856600	Weak transcription	Fetal Brain Female	brain
33	chr4:62849000-62850600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr4:62849200-62851800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:62849600-62850200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr4:62850000-62850200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr4:62850000-62850400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr4:62850600-62877000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr4:62850800-62862000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:62851400-62852600	Enhancers	Brain Germinal Matrix	brain
41	chr4:62852600-62853800	Weak transcription	Brain Germinal Matrix	brain
42	chr4:62854000-62854200	Enhancers	Brain Germinal Matrix	brain
43	chr4:62857800-62858200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr4:62857800-62858200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr4:62857800-62858600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr4:62857800-62858600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:62857800-62858800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr4:62857800-62859600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr4:62858000-62858200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:62858000-62858200	Enhancers	Brain Inferior Temporal Lobe	brain

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