Variant report

Variant	nsv517072
Chromosome Location	chr4:81793825-81890350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:81844556..81846296-chr4:81846383..81848047,2	K562	blood:
2	chr4:81794667..81796938-chr4:81800579..81802304,2	K562	blood:
3	chr4:81844556..81846296-chr4:81846383..81848047,2	K562	blood:
4	chr4:81789838..81792795-chr4:81793181..81795732,2	MCF-7	breast:
5	chr4:81794667..81796938-chr4:81800579..81802304,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BMP3-2	chr4:81884671-81884851	NONHSAT097143

Variant related genes	Relation type
ENSG00000197826	chromatin interactions

Extended variants
information (count: 1549 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1549 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13119650	chr4:81793825-81793826	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572119692	chr4:81793884-81793885	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs534846891	chr4:81793942-81793943	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556734502	chr4:81793944-81793945	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs553960326	chr4:81793956-81793957	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368526384	chr4:81793990-81793991	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs546218894	chr4:81794056-81794057	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs562827408	chr4:81794066-81794067	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs201374253	chr4:81794067-81794068	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs143768869	chr4:81794073-81794074	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553798974	chr4:81794075-81794076	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs75629513	chr4:81794076-81794077	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182209876	chr4:81794226-81794227	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs72865158	chr4:81794232-81794233	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs35443534	chr4:81794256-81794257	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs59196644	chr4:81794299-81794300	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs567322212	chr4:81794309-81794310	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs373533471	chr4:81794313-81794314	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375298171	chr4:81794318-81794319	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs115522809	chr4:81794319-81794320	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs186493807	chr4:81794365-81794366	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs191583645	chr4:81794366-81794367	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs569276788	chr4:81794394-81794395	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs535103046	chr4:81794425-81794426	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs548845445	chr4:81794463-81794464	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs182976166	chr4:81794481-81794482	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs573381845	chr4:81794524-81794525	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs369847818	chr4:81794525-81794526	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs34620960	chr4:81794590-81794591	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs557981310	chr4:81794597-81794598	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs74545377	chr4:81794640-81794641	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs13102852	chr4:81794667-81794668	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs143402020	chr4:81794729-81794730	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs148369657	chr4:81794739-81794740	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs141524049	chr4:81794763-81794764	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs555774151	chr4:81794794-81794795	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs146351019	chr4:81794870-81794871	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559089965	chr4:81794873-81794874	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs188760412	chr4:81794876-81794877	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs78398536	chr4:81794903-81794904	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs79833277	chr4:81794904-81794905	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs115616223	chr4:81794994-81794995	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs533363507	chr4:81795067-81795068	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs537937161	chr4:81795086-81795087	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs554645335	chr4:81795108-81795109	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs139642062	chr4:81795196-81795197	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs192869434	chr4:81795210-81795211	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs13129485	chr4:81795217-81795218	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs374754016	chr4:81795280-81795281	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs372505485	chr4:81795292-81795293	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
lymphocytic leukemia	21291569	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
Glioblastoma multiforme	21922591	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
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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Myelodysplastic syndrome	18508791	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:81794600-81795200	Enhancers	Primary B cells from peripheral blood	blood
2	chr4:81795200-81796200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr4:81796200-81797800	Enhancers	GM12878-XiMat	blood
4	chr4:81796200-81798600	Enhancers	Primary B cells from peripheral blood	blood
5	chr4:81797000-81798200	Enhancers	Primary B cells from cord blood	blood
6	chr4:81797400-81799400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:81797400-81799600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:81797400-81799600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:81797600-81798200	Enhancers	Osteobl	bone
10	chr4:81797600-81798600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr4:81797800-81798600	Flanking Active TSS	GM12878-XiMat	blood
12	chr4:81797800-81798800	Enhancers	NHDF-Ad	bronchial
13	chr4:81797800-81799600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:81798000-81798800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:81798200-81799200	Weak transcription	Primary B cells from cord blood	blood
16	chr4:81798200-81799200	Weak transcription	Osteobl	bone
17	chr4:81798600-81799200	Enhancers	GM12878-XiMat	blood
18	chr4:81799200-81799400	Enhancers	Primary B cells from cord blood	blood
19	chr4:81799200-81799400	Enhancers	Osteobl	bone
20	chr4:81806400-81806800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr4:81817000-81819200	Enhancers	GM12878-XiMat	blood
22	chr4:81818600-81819000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:81819200-81819400	ZNF genes & repeats	GM12878-XiMat	blood
24	chr4:81822200-81822400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:81822400-81823600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:81823600-81825000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:81833600-81833800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:81834400-81835200	Enhancers	Primary B cells from peripheral blood	blood
29	chr4:81834400-81835200	Enhancers	Liver	Liver
30	chr4:81834400-81835800	Enhancers	GM12878-XiMat	blood
31	chr4:81835200-81837800	Weak transcription	Liver	Liver
32	chr4:81837800-81838400	Enhancers	Liver	Liver
33	chr4:81838400-81840000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:81839000-81840000	Enhancers	NHEK	skin
35	chr4:81839200-81839600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:81839200-81840000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:81839600-81844200	Weak transcription	Ovary	ovary
38	chr4:81840000-81842400	Weak transcription	NHEK	skin
39	chr4:81840000-81842800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:81842400-81842800	Enhancers	Placenta	Placenta
41	chr4:81842400-81842800	Enhancers	NHEK	skin
42	chr4:81842800-81843000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:81842800-81847400	Weak transcription	NHEK	skin
44	chr4:81844200-81844600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr4:81844200-81844600	Enhancers	Ovary	ovary
46	chr4:81844600-81847600	Weak transcription	Ovary	ovary
47	chr4:81846400-81846600	Enhancers	GM12878-XiMat	blood
48	chr4:81846600-81847000	Enhancers	Primary B cells from cord blood	blood
49	chr4:81846600-81847600	Weak transcription	GM12878-XiMat	blood
50	chr4:81846800-81853200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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