Variant report

Variant	nsv980430
Chromosome Location	chr4:121421945-121439603
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 352 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114681911	chr4:121422657-121422658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs843607	chr4:121422665-121422666	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs568666059	chr4:121422666-121422667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529068804	chr4:121422669-121422670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369869340	chr4:121422685-121422686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113738090	chr4:121422715-121422716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562605075	chr4:121422725-121422726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531303530	chr4:121422788-121422789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551397103	chr4:121422829-121422830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564858947	chr4:121422839-121422840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs193205922	chr4:121422864-121422865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548133205	chr4:121422872-121422873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114355271	chr4:121422894-121422895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557118600	chr4:121422974-121422975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536865586	chr4:121422979-121422980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141236054	chr4:121423018-121423019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570181160	chr4:121423085-121423086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570921721	chr4:121423087-121423088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146274097	chr4:121423091-121423092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12645260	chr4:121423102-121423103	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs572128137	chr4:121423148-121423149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184383620	chr4:121423178-121423179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553659247	chr4:121423238-121423239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376983654	chr4:121423326-121423327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573805686	chr4:121423368-121423369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188247844	chr4:121423396-121423397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370211084	chr4:121423417-121423418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554589735	chr4:121423436-121423437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576121508	chr4:121423461-121423462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115635832	chr4:121423478-121423479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139406577	chr4:121423489-121423490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527301673	chr4:121423510-121423511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114805661	chr4:121423512-121423513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561121764	chr4:121423537-121423538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142393937	chr4:121423540-121423541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561573255	chr4:121423623-121423624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370167659	chr4:121423632-121423633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181427010	chr4:121423639-121423640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145935641	chr4:121423645-121423646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573621539	chr4:121423646-121423647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117942727	chr4:121423716-121423717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375329621	chr4:121423742-121423743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565794842	chr4:121423771-121423772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1584358	chr4:121423776-121423777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566626622	chr4:121426022-121426023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565935653	chr4:121426075-121426076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs843606	chr4:121426195-121426196	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs534468491	chr4:121426196-121426197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368082652	chr4:121426255-121426256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112232122	chr4:121426266-121426267	Enhancers	n/a	n/a	Overlapped CNVs	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
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121422600-121423800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:121423000-121423400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:121426000-121426600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:121426600-121427000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:121426800-121427400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:121427000-121429600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:121427600-121428200	Enhancers	Fetal Heart	heart
8	chr4:121428000-121430000	Weak transcription	Pancreas	Pancrea
9	chr4:121428200-121429200	Weak transcription	Fetal Heart	heart
10	chr4:121429000-121429600	Enhancers	Fetal Lung	lung
11	chr4:121429200-121429600	Enhancers	Fetal Heart	heart
12	chr4:121429600-121430600	Weak transcription	Fetal Lung	lung
13	chr4:121430000-121430200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:121430000-121430200	ZNF genes & repeats	Pancreas	Pancrea
15	chr4:121430000-121430400	Active TSS	Spleen	Spleen
16	chr4:121430000-121430600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr4:121430000-121430800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr4:121430000-121431000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:121430200-121431000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr4:121430200-121431000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr4:121430400-121430600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr4:121430400-121431000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:121430400-121431200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:121430800-121431000	Enhancers	Fetal Lung	lung
25	chr4:121436800-121437000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:121436800-121437200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:121436800-121437600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr4:121436800-121438200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr4:121436800-121438200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr4:121437000-121437600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr4:121437000-121438400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr4:121437200-121445000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:121437600-121437800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr4:121437600-121445000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr4:121438000-121440000	Enhancers	Rectal Smooth Muscle	rectum
36	chr4:121438200-121439000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:121438200-121439000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:121438200-121439000	Enhancers	Colon Smooth Muscle	Colon
39	chr4:121438400-121438800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr4:121438600-121439000	Enhancers	HUVEC	blood vessel
41	chr4:121438800-121439000	Enhancers	NHDF-Ad	bronchial
42	chr4:121438800-121439000	Enhancers	Osteobl	bone
43	chr4:121438800-121439400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr4:121439000-121439200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr4:121439000-121439200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr4:121439000-121439200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr4:121439000-121439200	Active TSS	Aorta	Aorta
48	chr4:121439000-121439200	Weak transcription	Colon Smooth Muscle	Colon
49	chr4:121439000-121439200	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr4:121439000-121439400	Flanking Active TSS	NHDF-Ad	bronchial

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