Variant report

Variant	nsv290813
Chromosome Location	chr4:106897031-106900926
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:106893048..106895457-chr4:106896581..106900704,4	K562	blood:
2	chr14:24562244..24564068-chr4:106897955..106900240,2	MCF-7	breast:
3	chr4:106899986..106902171-chr4:106913002..106915324,2	K562	blood:
4	chr4:106630458..106633025-chr4:106894653..106897415,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100889	chromatin interactions
ENSG00000138780	chromatin interactions

Extended variants
information (count: 161 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546056072	chr4:106897033-106897034	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs17036415	chr4:106897054-106897055	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs148429924	chr4:106897069-106897070	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548652235	chr4:106897106-106897107	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs28602429	chr4:106897179-106897180	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184645153	chr4:106897208-106897209	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs557174069	chr4:106897210-106897211	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs13111040	chr4:106897229-106897230	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs547886322	chr4:106897291-106897292	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188317009	chr4:106897295-106897296	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs566245513	chr4:106897296-106897297	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs142615399	chr4:106897375-106897376	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs180680462	chr4:106897387-106897388	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551939252	chr4:106897436-106897437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568858324	chr4:106897529-106897530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150571693	chr4:106897537-106897538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374494677	chr4:106897555-106897556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186499485	chr4:106897582-106897583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567733326	chr4:106897588-106897589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11945032	chr4:106897596-106897597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs374048099	chr4:106897607-106897608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547899605	chr4:106897616-106897617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576846577	chr4:106897672-106897673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546416348	chr4:106897688-106897689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28373108	chr4:106897695-106897696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs190883895	chr4:106897698-106897699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28489230	chr4:106897713-106897714	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs562337533	chr4:106897723-106897724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57388634	chr4:106897734-106897735	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs541046079	chr4:106897735-106897736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11097905	chr4:106897738-106897739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs533260503	chr4:106897756-106897757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144488054	chr4:106897878-106897879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147854797	chr4:106897888-106897889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531368017	chr4:106897889-106897890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548099831	chr4:106897892-106897893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568240448	chr4:106897913-106897914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75835953	chr4:106897980-106897981	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs62320062	chr4:106897989-106897990	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs181700036	chr4:106898018-106898019	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs11097906	chr4:106898053-106898054	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs186674705	chr4:106898069-106898070	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs556256959	chr4:106898115-106898116	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs576729223	chr4:106898120-106898121	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs11097907	chr4:106898201-106898202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs191625293	chr4:106898213-106898214	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs182966402	chr4:106898277-106898278	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs572635752	chr4:106898298-106898299	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs541457909	chr4:106898300-106898301	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs552919436	chr4:106898341-106898342	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106885400-106909800	Weak transcription	Aorta	Aorta
2	chr4:106891000-106898600	Weak transcription	Fetal Intestine Large	intestine
3	chr4:106891800-106897800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:106892400-106900000	Weak transcription	HSMMtube	muscle
5	chr4:106893200-106897200	Weak transcription	Fetal Intestine Small	intestine
6	chr4:106897200-106897400	Enhancers	Fetal Intestine Small	intestine
7	chr4:106897800-106899400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:106897800-106900600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:106897800-106901400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:106898400-106899000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:106898400-106899000	Enhancers	Fetal Heart	heart
12	chr4:106898600-106899000	Enhancers	Fetal Intestine Large	intestine
13	chr4:106898800-106899000	Enhancers	Adipose Nuclei	Adipose
14	chr4:106899000-106900000	Weak transcription	Adipose Nuclei	Adipose
15	chr4:106899400-106899600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:106899600-106900000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:106899600-106900600	Enhancers	NHEK	skin
18	chr4:106900000-106900400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:106900000-106900400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:106900000-106900400	Enhancers	Adipose Nuclei	Adipose
21	chr4:106900000-106900600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:106900000-106900800	Enhancers	HUVEC	blood vessel
23	chr4:106900000-106901000	Enhancers	HSMMtube	muscle
24	chr4:106900000-106901000	Enhancers	Osteobl	bone
25	chr4:106900200-106900800	Enhancers	NH-A	brain
26	chr4:106900200-106901000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:106900200-106901000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:106900200-106901000	Enhancers	HSMM	muscle
29	chr4:106900200-106901400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:106900200-106901400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:106900200-106901400	Enhancers	NHDF-Ad	bronchial
32	chr4:106900600-106901400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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