Variant report

Variant	nsv513154
Chromosome Location	chr4:102786459-102789947
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:102781326..102782926-chr4:102784724..102787064,2	MCF-7	breast:
2	chr4:102778161..102781257-chr4:102784070..102788412,3	MCF-7	breast:
3	chr4:102748202..102750922-chr4:102785267..102786848,2	MCF-7	breast:
4	chr4:102777435..102779850-chr4:102786990..102788532,2	MCF-7	breast:
5	chr4:102266269..102272575-chr4:102784697..102788612,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138814	chromatin interactions
ENSG00000254531	chromatin interactions

Extended variants
information (count: 140 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149528238	chr4:102786570-102786571	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs564532055	chr4:102786577-102786578	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs531709638	chr4:102786592-102786593	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs550290468	chr4:102786603-102786604	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs190374260	chr4:102786643-102786644	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs147195144	chr4:102786644-102786645	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs140457415	chr4:102786655-102786656	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs13101528	chr4:102786685-102786686	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs4544711	chr4:102786721-102786722	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs557462193	chr4:102786726-102786727	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs35618358	chr4:102786729-102786730	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs182966654	chr4:102786758-102786759	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs186843653	chr4:102786766-102786767	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs575057003	chr4:102786806-102786807	ZNF genes & repeats Enhancers Strong transcription Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs542456651	chr4:102786829-102786830	ZNF genes & repeats Enhancers Strong transcription Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs77068789	chr4:102786904-102786905	ZNF genes & repeats Enhancers Strong transcription Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs142804478	chr4:102786922-102786923	ZNF genes & repeats Enhancers Strong transcription Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs368177748	chr4:102786946-102786947	ZNF genes & repeats Enhancers Strong transcription Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs546522729	chr4:102786951-102786952	ZNF genes & repeats Enhancers Strong transcription Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs147389512	chr4:102786954-102786955	ZNF genes & repeats Enhancers Strong transcription Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs531741510	chr4:102786997-102786998	ZNF genes & repeats Enhancers Strong transcription Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs191723635	chr4:102786998-102786999	ZNF genes & repeats Enhancers Strong transcription Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs562234746	chr4:102787021-102787022	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs183433096	chr4:102787047-102787048	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs34814827	chr4:102787117-102787118	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs562298674	chr4:102787171-102787172	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs565582415	chr4:102787176-102787177	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs533045107	chr4:102787184-102787185	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs551661668	chr4:102787186-102787187	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs569501457	chr4:102787187-102787188	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs537070208	chr4:102787240-102787241	ZNF genes & repeats Enhancers Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs555133715	chr4:102787241-102787242	ZNF genes & repeats Enhancers Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs13103373	chr4:102787244-102787245	ZNF genes & repeats Enhancers Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs574026647	chr4:102787260-102787261	ZNF genes & repeats Enhancers Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs554403875	chr4:102787319-102787320	ZNF genes & repeats Enhancers Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs187585356	chr4:102787330-102787331	ZNF genes & repeats Enhancers Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs192772356	chr4:102787353-102787354	ZNF genes & repeats Enhancers Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs558436046	chr4:102787365-102787366	ZNF genes & repeats Enhancers Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs114057236	chr4:102787383-102787384	ZNF genes & repeats Enhancers Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs543819041	chr4:102787396-102787397	ZNF genes & repeats Enhancers Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs148423057	chr4:102787421-102787422	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs4698977	chr4:102787423-102787424	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs541177515	chr4:102787490-102787491	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs185493526	chr4:102787555-102787556	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs559078254	chr4:102787607-102787608	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs117222540	chr4:102787608-102787609	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs527509012	chr4:102787610-102787611	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs551353724	chr4:102787618-102787619	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs563623324	chr4:102787640-102787641	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs530743061	chr4:102787678-102787679	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102774000-102786800	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr4:102784000-102793200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:102785400-102790600	Strong transcription	Primary B cells from cord blood	blood
4	chr4:102785600-102786600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:102785600-102786800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:102785800-102786800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:102786000-102786600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:102786000-102786800	Enhancers	Placenta	Placenta
9	chr4:102786000-102787400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:102786200-102786800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:102786200-102786800	Enhancers	NH-A	brain
12	chr4:102786200-102787200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr4:102786200-102787400	Enhancers	HepG2	liver
14	chr4:102786200-102787800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:102786400-102786800	Flanking Active TSS	A549	lung
16	chr4:102786400-102787000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:102786400-102787400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr4:102786600-102786800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:102786600-102786800	Enhancers	Lung	lung
20	chr4:102786600-102787200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:102786600-102787200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr4:102786600-102787200	Enhancers	Osteobl	bone
23	chr4:102786800-102787000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:102786800-102787200	Enhancers	Hela-S3	cervix
25	chr4:102786800-102787400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr4:102786800-102787600	Enhancers	A549	lung
27	chr4:102787000-102787200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:102787000-102793800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:102787200-102792000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr4:102787200-102797200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:102787400-102787800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
32	chr4:102787800-102788000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr4:102787800-102791800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:102788000-102791000	Strong transcription	Primary B cells from peripheral blood	blood

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