Variant report

Variant	nsv1000089
Chromosome Location	chr4:102846944-102871081
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:102842214..102843068-chr4:102854874..102855625,2	MCF-7	breast:
2	chr4:102860897..102862820-chr4:102873982..102876353,2	MCF-7	breast:
3	chr4:102846487..102848228-chr4:102853686..102856013,2	MCF-7	breast:
4	chr4:102853526..102855448-chr4:102860047..102862482,2	K562	blood:
5	chr4:102853526..102855448-chr4:102860047..102862482,2	K562	blood:
6	chr4:102842702..102843248-chr4:102855080..102855669,2	MCF-7	breast:
7	chr4:102846487..102848228-chr4:102853686..102856013,2	MCF-7	breast:

Extended variants
information (count: 855 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189956568	chr4:102846967-102846968	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183312878	chr4:102846979-102846980	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370905241	chr4:102847059-102847060	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115261747	chr4:102847083-102847084	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571695398	chr4:102847088-102847089	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560642938	chr4:102847089-102847090	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550678655	chr4:102847090-102847091	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568671665	chr4:102847097-102847098	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572158765	chr4:102847126-102847127	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73836655	chr4:102847196-102847197	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs542706816	chr4:102847217-102847218	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144714836	chr4:102847220-102847221	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573096048	chr4:102847235-102847236	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533766681	chr4:102847281-102847282	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187984921	chr4:102847287-102847288	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191970515	chr4:102847291-102847292	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183477048	chr4:102847339-102847340	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536558668	chr4:102847340-102847341	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368048671	chr4:102847341-102847342	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562579273	chr4:102847380-102847381	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116440273	chr4:102847387-102847388	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543288199	chr4:102847393-102847394	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561552322	chr4:102847424-102847425	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4099101	chr4:102847428-102847429	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs76058311	chr4:102847433-102847434	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138576549	chr4:102847445-102847446	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188831648	chr4:102847464-102847465	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527804861	chr4:102847479-102847480	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116237000	chr4:102847504-102847505	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73836657	chr4:102847610-102847611	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs141560905	chr4:102847638-102847639	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192704937	chr4:102847656-102847657	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548015964	chr4:102847669-102847670	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566737573	chr4:102847730-102847731	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533818475	chr4:102847743-102847744	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34628774	chr4:102847759-102847760	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532150732	chr4:102847827-102847828	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547039144	chr4:102847829-102847830	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376537564	chr4:102847838-102847839	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185005765	chr4:102847853-102847854	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143431729	chr4:102847854-102847855	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556289656	chr4:102847914-102847915	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188099640	chr4:102848008-102848009	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376129733	chr4:102848021-102848022	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191335035	chr4:102848095-102848096	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554839125	chr4:102848128-102848129	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573403730	chr4:102848130-102848131	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184592082	chr4:102848135-102848136	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189325813	chr4:102848142-102848143	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181623715	chr4:102848144-102848145	Strong transcription Weak transcription	n/a	n/a	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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102836000-102868400	Strong transcription	Primary B cells from peripheral blood	blood
2	chr4:102839200-102852600	Strong transcription	Primary B cells from cord blood	blood
3	chr4:102846400-102849000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:102849000-102850600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:102849400-102849800	Active TSS	Brain Anterior Caudate	brain
6	chr4:102849600-102850000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:102849600-102850000	Bivalent Enhancer	HSMMtube	muscle
8	chr4:102849600-102850200	Enhancers	Brain Germinal Matrix	brain
9	chr4:102849800-102850000	Enhancers	Brain Anterior Caudate	brain
10	chr4:102849800-102850200	Active TSS	Brain Hippocampus Middle	brain
11	chr4:102850200-102854400	Weak transcription	Brain Germinal Matrix	brain
12	chr4:102850600-102854000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:102852600-102854000	Weak transcription	Primary B cells from cord blood	blood
14	chr4:102854000-102855800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:102854000-102859200	Strong transcription	Primary B cells from cord blood	blood
16	chr4:102854200-102856000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:102854400-102855800	Enhancers	Brain Germinal Matrix	brain
18	chr4:102854800-102855000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:102854800-102855600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:102855000-102855600	Enhancers	Adipose Nuclei	Adipose
21	chr4:102855000-102865800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:102859200-102859600	Weak transcription	Primary B cells from cord blood	blood
23	chr4:102859600-102860800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:102859600-102872000	Strong transcription	Primary B cells from cord blood	blood
25	chr4:102859800-102860400	Enhancers	Hela-S3	cervix
26	chr4:102859800-102860800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:102860800-102873600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:102862400-102863600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:102863000-102863200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:102863200-102865600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:102864400-102867000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:102865200-102866800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr4:102865400-102865800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:102865400-102866200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr4:102865400-102867000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr4:102865400-102867200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr4:102865400-102867600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr4:102865600-102866000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr4:102865600-102866400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr4:102865600-102866600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:102865600-102867000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr4:102865800-102866000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:102865800-102866200	Enhancers	NH-A	brain
44	chr4:102865800-102866400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr4:102865800-102871000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:102866000-102866200	Enhancers	HMEC	breast
47	chr4:102866000-102870200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr4:102866200-102875400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr4:102866400-102869800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr4:102866400-102870200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links