Variant report

Variant	nsv879829
Chromosome Location	chr4:118429875-118479521
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:9)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	4:118454469-118464115..4:118706981-118715929	H1-hESC	embryonic stem cell:	embryo
2	4:118454469-118464115..4:118659345-118667424	H1-hESC	embryonic stem cell:	embryo
3	4:118357351-118360885..4:118437019-118438281	H1-hESC	embryonic stem cell:	embryo
4	4:118319405-118319911..4:118454469-118464115	H1-hESC	embryonic stem cell:	embryo
5	chr4:118473427..118475701-chr4:118478526..118481071,2	K562	blood:
6	chr4:118473427..118475701-chr4:118478526..118481071,2	K562	blood:
7	4:118471614-118473329..4:118473525-118474828	Hela-S3	cervix:
8	4:118428948-118429401..4:118429401-118431437	H1-hESC	embryonic stem cell:	embryo
9	4:118471614-118473329..4:118473525-118474828	Hela-S3	cervix:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRAM1L1-4	chr4:118455201-118455293	NONHSAT097961
2	lnc-TRAM1L1-4	chr4:118456449-118456752	NONHSAT097961
3	lnc-TRAM1L1-4	chr4:118461916-118461967	NONHSAT097961
4	lnc-TRAM1L1-4	chr4:118455756-118455837	NONHSAT097961
5	lnc-NDST3-4	chr4:118461252-118461728	ENSG00000236922

No data

Extended variants
information (count: 633 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:633 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569055698	chr4:118434402-118434403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188942181	chr4:118434440-118434441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557892175	chr4:118434545-118434546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571511920	chr4:118434548-118434549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2635298	chr4:118434557-118434558	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs370746176	chr4:118434583-118434584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140052465	chr4:118434590-118434591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535464102	chr4:118434604-118434605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143748919	chr4:118434651-118434652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28947468	chr4:118434677-118434678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544325478	chr4:118434683-118434684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28945106	chr4:118434705-118434706	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs181672461	chr4:118434728-118434729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540137337	chr4:118434757-118434758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560424441	chr4:118434771-118434772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529268980	chr4:118434776-118434777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549397192	chr4:118434807-118434808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17862010	chr4:118434893-118434894	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs531648947	chr4:118434899-118434900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184652050	chr4:118434934-118434935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551482121	chr4:118434939-118434940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527744244	chr4:118434991-118434992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571473823	chr4:118434992-118434993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1489545	chr4:118435015-118435016	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs547753790	chr4:118435020-118435021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111629206	chr4:118435057-118435058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538177473	chr4:118435076-118435077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567999272	chr4:118435084-118435085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537159648	chr4:118435099-118435100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535097295	chr4:118435101-118435102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371635356	chr4:118435133-118435134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555303888	chr4:118435140-118435141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542070186	chr4:118435233-118435234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150160467	chr4:118435254-118435255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373562307	chr4:118435283-118435284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17862011	chr4:118435295-118435296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368871105	chr4:118435296-118435297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552545023	chr4:118435332-118435333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527633159	chr4:118435354-118435355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558063283	chr4:118435361-118435362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557918455	chr4:118435379-118435380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577890263	chr4:118435394-118435395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28948992	chr4:118435405-118435406	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs1489546	chr4:118435415-118435416	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs573837611	chr4:118435458-118435459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145602198	chr4:118435472-118435473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562516005	chr4:118435562-118435563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552983545	chr4:118435646-118435647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369794341	chr4:118435657-118435658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11734636	chr4:118435664-118435665	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118434400-118436000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:118435400-118435800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:118435400-118436200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:118435600-118436200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:118435600-118436200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:118435800-118436200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr4:118436000-118437000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:118437000-118437200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:118437200-118437400	ZNF genes & repeats	Psoas Muscle	Psoas
10	chr4:118449400-118449800	Enhancers	Fetal Brain Male	brain
11	chr4:118449800-118454200	Weak transcription	Fetal Brain Male	brain
12	chr4:118450600-118451000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:118450600-118451000	Enhancers	Liver	Liver
14	chr4:118450600-118451000	Enhancers	HSMMtube	muscle
15	chr4:118451000-118454000	Weak transcription	Liver	Liver
16	chr4:118454000-118455400	Enhancers	Liver	Liver
17	chr4:118454200-118454400	Enhancers	Fetal Brain Male	brain
18	chr4:118454400-118454800	Weak transcription	Fetal Brain Male	brain
19	chr4:118454800-118455000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:118454800-118455200	Enhancers	Fetal Brain Male	brain
21	chr4:118455000-118459800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:118455400-118455800	Weak transcription	Liver	Liver
23	chr4:118455800-118457400	Enhancers	Liver	Liver
24	chr4:118459800-118460000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:118460000-118460400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:118460200-118461000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:118460400-118461200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:118466200-118466600	Enhancers	Liver	Liver
29	chr4:118470600-118470800	Enhancers	Brain Angular Gyrus	brain
30	chr4:118470600-118471000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr4:118470600-118471000	Active TSS	Brain Anterior Caudate	brain
32	chr4:118470600-118471000	Enhancers	Brain Hippocampus Middle	brain
33	chr4:118470600-118471000	Enhancers	Small Intestine	intestine
34	chr4:118470600-118471400	Enhancers	Fetal Kidney	kidney
35	chr4:118470600-118471600	Enhancers	Fetal Lung	lung
36	chr4:118470800-118471600	Enhancers	Colon Smooth Muscle	Colon

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