Variant report

Variant	nsv879674
Chromosome Location	chr4:102002123-102048076
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:102002819..102006552-chr4:102008416..102011880,4	MCF-7	breast:
2	chr4:102002819..102006552-chr4:102008416..102011880,4	MCF-7	breast:
3	chr4:102005836..102008616-chr4:102010594..102013431,2	K562	blood:
4	chr4:102022887..102025645-chr4:102079207..102081284,2	MCF-7	breast:
5	chr4:102039346..102042301-chr4:102044157..102045962,2	MCF-7	breast:
6	chr4:102039346..102042301-chr4:102044157..102045962,2	MCF-7	breast:
7	chr12:70082527..70083460-chr4:102029317..102030043,2	HCT-116	colon:
8	chr4:102005836..102008616-chr4:102010594..102013431,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138814	chromatin interactions
ENSG00000127325	chromatin interactions

Extended variants
information (count: 1586 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1586 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3804357	chr4:102002123-102002124	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538298613	chr4:102002268-102002269	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557279649	chr4:102002288-102002289	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116359236	chr4:102002344-102002345	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576794104	chr4:102002357-102002358	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9307252	chr4:102002366-102002367	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs76043865	chr4:102002382-102002383	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561031726	chr4:102002493-102002494	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550333887	chr4:102002586-102002587	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562138808	chr4:102002596-102002597	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541468350	chr4:102002663-102002664	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559637422	chr4:102002704-102002705	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147175833	chr4:102002789-102002790	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568727366	chr4:102002796-102002797	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551395353	chr4:102002859-102002860	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563615676	chr4:102002861-102002862	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541482075	chr4:102002885-102002886	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549279465	chr4:102002922-102002923	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567803921	chr4:102002944-102002945	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539309491	chr4:102002946-102002947	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113894221	chr4:102002960-102002961	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190637751	chr4:102002971-102002972	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538608618	chr4:102002994-102002995	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556969494	chr4:102003012-102003013	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17232408	chr4:102003070-102003071	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs536510895	chr4:102003091-102003092	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183313267	chr4:102003267-102003268	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572991200	chr4:102003328-102003329	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142724774	chr4:102003345-102003346	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144385802	chr4:102003349-102003350	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189108287	chr4:102003389-102003390	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193068734	chr4:102003395-102003396	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182955624	chr4:102003463-102003464	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79272967	chr4:102003495-102003496	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372857155	chr4:102003560-102003561	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574901618	chr4:102003627-102003628	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535596031	chr4:102003643-102003644	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186639882	chr4:102003644-102003645	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370699367	chr4:102003676-102003677	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557552676	chr4:102003715-102003716	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542913436	chr4:102003737-102003738	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76798779	chr4:102003767-102003768	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191127458	chr4:102003775-102003776	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546908457	chr4:102003789-102003790	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183996728	chr4:102004024-102004025	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532213378	chr4:102004049-102004050	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111888705	chr4:102004096-102004097	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188442514	chr4:102004097-102004098	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78558423	chr4:102004100-102004101	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568823908	chr4:102004110-102004111	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Hirschsprung''s Disease	21712996	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
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:836 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:101941200-102035600	Weak transcription	Fetal Intestine Small	intestine
2	chr4:101942600-102003200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr4:101942600-102024400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:101943800-102023400	Weak transcription	Fetal Lung	lung
5	chr4:101947800-102012600	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:101953600-102015200	Weak transcription	Fetal Intestine Large	intestine
7	chr4:101959000-102023000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:101959600-102003000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:101960800-102004000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:101960800-102004200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:101960800-102019800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr4:101961000-102024600	Weak transcription	NHEK	skin
13	chr4:101961200-102024600	Weak transcription	Small Intestine	intestine
14	chr4:101966600-102003000	Weak transcription	Primary T cells from cord blood	blood
15	chr4:101966600-102007800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:101966800-102007800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:101978000-102024600	Weak transcription	Left Ventricle	heart
18	chr4:101978200-102002600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr4:101978400-102023000	Weak transcription	NHLF	lung
20	chr4:101980000-102023200	Weak transcription	NHDF-Ad	bronchial
21	chr4:101980800-102004600	Strong transcription	Primary B cells from cord blood	blood
22	chr4:101981600-102010600	Weak transcription	Aorta	Aorta
23	chr4:101981800-102025000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr4:101982000-102023000	Weak transcription	Osteobl	bone
25	chr4:101982200-102005200	Weak transcription	A549	lung
26	chr4:101982400-102003200	Weak transcription	Adipose Nuclei	Adipose
27	chr4:101982400-102024400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:101984600-102003000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:101986000-102010200	Weak transcription	Psoas Muscle	Psoas
30	chr4:101986200-102023000	Weak transcription	Fetal Brain Female	brain
31	chr4:101988000-102010800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:101988200-102024400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:101988400-102023800	Weak transcription	Fetal Kidney	kidney
34	chr4:101988600-102004200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr4:101989400-102024600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:101989600-102003200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr4:101990000-102014200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr4:101991800-102015600	Weak transcription	Placenta	Placenta
39	chr4:101992400-102010000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:101992400-102010400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:101992400-102024600	Weak transcription	Pancreas	Pancrea
42	chr4:101992800-102023600	Weak transcription	NH-A	brain
43	chr4:101993000-102003000	Weak transcription	HSMMtube	muscle
44	chr4:101993000-102031600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:101993600-102010400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr4:101994400-102007800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr4:101994800-102004400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr4:101994800-102029800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr4:101995800-102003000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:101995800-102003000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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