Variant report

Variant	nsv879830
Chromosome Location	chr4:118436983-118479521
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:8)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 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	chr4:118473427..118475701-chr4:118478526..118481071,2	K562	blood:
3	chr4:118473427..118475701-chr4:118478526..118481071,2	K562	blood:
4	4:118454469-118464115..4:118659345-118667424	H1-hESC	embryonic stem cell:	embryo
5	4:118319405-118319911..4:118454469-118464115	H1-hESC	embryonic stem cell:	embryo
6	4:118357351-118360885..4:118437019-118438281	H1-hESC	embryonic stem cell:	embryo
7	4:118471614-118473329..4:118473525-118474828	Hela-S3	cervix:
8	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	chr4:118456449-118456752	NONHSAT097961
2	lnc-TRAM1L1-4	chr4:118461916-118461967	NONHSAT097961
3	lnc-NDST3-4	chr4:118461252-118461728	ENSG00000236922
4	lnc-TRAM1L1-4	chr4:118455201-118455293	NONHSAT097961
5	lnc-TRAM1L1-4	chr4:118455756-118455837	NONHSAT097961

No data

Extended variants
information (count: 533 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:533 , 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	rs1352574	chr4:118436983-118436984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17865117	chr4:118437027-118437028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543582794	chr4:118437028-118437029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563882156	chr4:118437038-118437039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs956790	chr4:118437047-118437048	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs17868685	chr4:118437059-118437060	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs564864490	chr4:118437089-118437090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs766563	chr4:118437137-118437138	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs185552925	chr4:118437180-118437181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368456422	chr4:118437221-118437222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs766564	chr4:118437224-118437225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs571848168	chr4:118437239-118437240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs150882791	chr4:118437251-118437252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs1352575	chr4:118437306-118437307	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs543073080	chr4:118437338-118437339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs536030986	chr4:118437340-118437341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs374401513	chr4:118437362-118437363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs549528087	chr4:118437367-118437368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs190208492	chr4:118437398-118437399	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs376901105	chr4:118449419-118449420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186240191	chr4:118449428-118449429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2010003	chr4:118449462-118449463	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs575153947	chr4:118449469-118449470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544118378	chr4:118449472-118449473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17870062	chr4:118449478-118449479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17862024	chr4:118449486-118449487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562324825	chr4:118449488-118449489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs17862025	chr4:118449489-118449490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570188328	chr4:118449496-118449497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201726544	chr4:118449497-118449498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558460996	chr4:118449503-118449504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372686153	chr4:118449504-118449505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191164029	chr4:118449507-118449508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565984286	chr4:118449518-118449519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544768097	chr4:118449527-118449528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140552171	chr4:118449532-118449533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527387435	chr4:118449565-118449566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547148884	chr4:118449566-118449567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567138974	chr4:118449582-118449583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566462579	chr4:118449642-118449643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs62311736	chr4:118449653-118449654	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs550074842	chr4:118449654-118449655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373853665	chr4:118449694-118449695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376823993	chr4:118449701-118449702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370956132	chr4:118449712-118449713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558998460	chr4:118449723-118449724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183283499	chr4:118449736-118449737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535140220	chr4:118449745-118449746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142878030	chr4:118449804-118449805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17865163	chr4:118449869-118449870	Weak transcription	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:30 , 50 per page) page: 1

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

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