Variant report

Variant	nsv1011868
Chromosome Location	chr4:103158581-103206555
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:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:103173195..103175127-chr4:103176790..103178725,2	MCF-7	breast:
2	chr3:3858607..3859255-chr4:103183150..103184141,2	MCF-7	breast:
3	chr4:103178615..103179571-chr4:103266208..103266809,2	K562	blood:
4	chr4:102266747..102268895-chr4:103177571..103180398,2	MCF-7	breast:
5	chr4:103203177..103206045-chr4:103206717..103208607,2	K562	blood:
6	chr4:102265718..102267485-chr4:103187307..103189886,2	MCF-7	breast:
7	chr4:103173195..103175127-chr4:103176790..103178725,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MANBA-1	chr4:103190873-103190951	NONHSAT097578
2	lnc-MANBA-4	chr4:103183267-103183758	NONHSAT097577

No data

Variant related genes	Relation type
ENSG00000138821	chromatin interactions
ENSG00000138814	chromatin interactions

Extended variants
information (count: 2044 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2044 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576749226	chr4:103158583-103158584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537699593	chr4:103158584-103158585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181912260	chr4:103158606-103158607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574137383	chr4:103158610-103158611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146732959	chr4:103158617-103158618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560222365	chr4:103158621-103158622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539665438	chr4:103158638-103158639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540839467	chr4:103158663-103158664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187598196	chr4:103158680-103158681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs418348	chr4:103158681-103158682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs544881320	chr4:103158686-103158687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs36088967	chr4:103158694-103158695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs36096450	chr4:103158732-103158733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2119210	chr4:103158770-103158771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540955327	chr4:103158777-103158778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2119209	chr4:103158782-103158783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs191481158	chr4:103158797-103158798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573719430	chr4:103158799-103158800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375034454	chr4:103158814-103158815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs460755	chr4:103158817-103158818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs562467807	chr4:103158826-103158827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377233976	chr4:103158827-103158828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527756012	chr4:103158830-103158831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569936488	chr4:103158842-103158843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551955793	chr4:103158876-103158877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570270020	chr4:103158877-103158878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537639934	chr4:103158878-103158879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533011750	chr4:103158879-103158880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568242725	chr4:103158900-103158901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183846743	chr4:103158919-103158920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550327631	chr4:103158931-103158932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187940408	chr4:103158949-103158950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572131153	chr4:103158967-103158968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545535005	chr4:103158994-103158995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191453117	chr4:103159007-103159008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559943669	chr4:103159022-103159023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577557334	chr4:103159023-103159024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs455610	chr4:103159044-103159045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs548909449	chr4:103159060-103159061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10433991	chr4:103159089-103159090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs529276784	chr4:103159096-103159097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371197342	chr4:103159111-103159112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141682441	chr4:103159112-103159113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560240290	chr4:103159128-103159129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182098540	chr4:103159145-103159146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373275730	chr4:103159146-103159147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550922003	chr4:103159151-103159152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570609280	chr4:103159152-103159153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186859564	chr4:103159181-103159182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191565351	chr4:103159186-103159187	Weak transcription	n/a	n/a	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103156000-103170200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:103161600-103166000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:103166000-103166600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:103166000-103166800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:103166600-103171400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:103166800-103171600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:103167400-103168600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr4:103167600-103168000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:103167600-103169000	Enhancers	NH-A	brain
10	chr4:103168400-103168800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:103168400-103168800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:103168600-103168800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:103169000-103172400	Weak transcription	NH-A	brain
14	chr4:103170800-103173000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:103171000-103171800	Weak transcription	Lung	lung
16	chr4:103171400-103171800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:103171600-103172000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:103171800-103172000	ZNF genes & repeats	Lung	lung
19	chr4:103172000-103179000	Weak transcription	Lung	lung
20	chr4:103172400-103172800	Enhancers	NH-A	brain
21	chr4:103175000-103175600	Enhancers	Liver	Liver
22	chr4:103175200-103175800	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr4:103175600-103180800	Weak transcription	Liver	Liver
24	chr4:103176800-103178200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr4:103178800-103179000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr4:103178800-103179000	Enhancers	K562	blood
27	chr4:103179000-103179200	Bivalent Enhancer	Aorta	Aorta
28	chr4:103179000-103179200	Enhancers	Lung	lung
29	chr4:103179000-103179400	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr4:103179000-103179400	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr4:103179000-103179400	Active TSS	K562	blood
32	chr4:103179000-103184000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:103179200-103179600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr4:103179200-103202200	Weak transcription	Lung	lung
35	chr4:103179400-103188800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr4:103179400-103221000	Weak transcription	K562	blood
37	chr4:103180000-103180600	Enhancers	HUVEC	blood vessel
38	chr4:103180200-103180400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:103180200-103180400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:103180400-103180600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:103180400-103181000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:103180400-103200400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:103180600-103184400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:103180800-103181000	Enhancers	Liver	Liver
45	chr4:103180800-103181000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr4:103180800-103181600	Enhancers	Fetal Intestine Large	intestine
47	chr4:103180800-103181600	Enhancers	Fetal Intestine Small	intestine
48	chr4:103181000-103181400	Weak transcription	Liver	Liver
49	chr4:103181000-103183400	Weak transcription	Hela-S3	cervix
50	chr4:103181000-103185400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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