Variant report

Variant	nsv820226
Chromosome Location	chr4:119120959-119130329
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 287 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111911090	chr4:119121020-119121021	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs566582897	chr4:119121021-119121022	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs528849575	chr4:119121086-119121087	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs76855468	chr4:119121168-119121169	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs372307274	chr4:119121207-119121208	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs181756703	chr4:119121284-119121285	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs74930179	chr4:119121384-119121385	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs560987273	chr4:119121392-119121393	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs557919923	chr4:119121457-119121458	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs2140475	chr4:119121473-119121474	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs10007918	chr4:119121482-119121483	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs186979363	chr4:119121499-119121500	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs144125223	chr4:119121505-119121506	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs573815933	chr4:119121551-119121552	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs192255987	chr4:119121571-119121572	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs556504997	chr4:119121573-119121574	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs10008013	chr4:119121580-119121581	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs532128246	chr4:119121591-119121592	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs56001813	chr4:119121609-119121610	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs527848469	chr4:119121634-119121635	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs10030269	chr4:119121646-119121647	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs186274307	chr4:119121656-119121657	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs552214018	chr4:119121672-119121673	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs80158408	chr4:119121676-119121677	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs189608661	chr4:119121693-119121694	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs1608506	chr4:119121695-119121696	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs531257066	chr4:119121717-119121718	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs1608505	chr4:119121742-119121743	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs2049362	chr4:119121760-119121761	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs555315196	chr4:119121819-119121820	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs182251776	chr4:119121821-119121822	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs186948271	chr4:119121842-119121843	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs567155017	chr4:119121859-119121860	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs79691104	chr4:119121928-119121929	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs556429187	chr4:119121938-119121939	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs191295315	chr4:119122033-119122034	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs549825060	chr4:119122041-119122042	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs183649917	chr4:119122042-119122043	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs557417896	chr4:119122105-119122106	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs377409015	chr4:119122110-119122111	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs538664345	chr4:119122113-119122114	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs559261729	chr4:119122157-119122158	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs577214489	chr4:119122181-119122182	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs188526469	chr4:119122210-119122211	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs561453613	chr4:119122282-119122283	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs574976323	chr4:119122286-119122287	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs542705535	chr4:119122289-119122290	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs193162336	chr4:119122300-119122301	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs539800092	chr4:119122305-119122306	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs35683434	chr4:119122308-119122309	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119112000-119125200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:119116000-119121400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:119120800-119125800	ZNF genes & repeats	Dnd41	blood
4	chr4:119121400-119121600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:119125200-119125600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:119125800-119127600	Weak transcription	Dnd41	blood
7	chr4:119126600-119126800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
8	chr4:119126800-119129600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:119127600-119131200	Strong transcription	Dnd41	blood
10	chr4:119128400-119128800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr4:119128400-119129000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:119128600-119129000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:119128600-119129200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr4:119128600-119129800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:119128800-119129000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:119128800-119130000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:119129000-119129400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:119129000-119130600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:119129200-119130400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:119129400-119130400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr4:119129600-119129800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr4:119129800-119130800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:119130000-119130400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:119130200-119130600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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