Variant report

Variant	nsv432614
Chromosome Location	chr4:79910989-79993822
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:79944609..79947579-chr4:79951684..79954668,2	K562	blood:
2	chr4:79963311..79963867-chr4:80497354..80497886,2	MCF-7	breast:
3	chr4:79959121..79962093-chr4:79967361..79969057,2	K562	blood:
4	chr4:79943664..79946142-chr9:83452129..83453630,2	MCF-7	breast:
5	chr4:79962952..79963679-chr4:81105091..81105941,3	MCF-7	breast:
6	chr4:79963103..79964922-chr4:79966258..79968873,2	K562	blood:
7	chr4:79963314..79963869-chr4:80218868..80219372,2	K562	blood:
8	chr4:79963103..79964922-chr4:79966258..79968873,2	K562	blood:
9	chr4:79964140..79964963-chr4:80497048..80497852,2	MCF-7	breast:
10	chr4:79962355..79964603-chr4:79966690..79968873,2	K562	blood:
11	chr4:79963329..79963907-chr4:80497328..80498247,2	K562	blood:
12	chr4:79944609..79947579-chr4:79951684..79954668,2	K562	blood:
13	chr4:79962355..79964603-chr4:79966690..79968873,2	K562	blood:
14	chr4:79963382..79963898-chr4:80312179..80313004,2	K562	blood:
15	chr4:79959121..79962093-chr4:79967361..79969057,2	K562	blood:
16	chr4:79959717..79962130-chr4:79962284..79964886,2	K562	blood:
17	chr4:79906212..79908512-chr4:79912830..79915570,2	K562	blood:
18	chr4:79959717..79962130-chr4:79962284..79964886,2	K562	blood:
19	chr4:79875322..79875845-chr4:79962992..79963610,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000152784	chromatin interactions

Extended variants
information (count: 2269 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:2269 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1564462	chr4:79910989-79910990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs117821721	chr4:79911003-79911004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191926465	chr4:79911009-79911010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553490346	chr4:79911042-79911043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577093190	chr4:79911066-79911067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528798737	chr4:79911118-79911119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2903601	chr4:79911144-79911145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs576254394	chr4:79911176-79911177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75581942	chr4:79911189-79911190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565387869	chr4:79911203-79911204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200537086	chr4:79911204-79911205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs3063974	chr4:79911205-79911206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7439351	chr4:79911213-79911214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562252906	chr4:79911217-79911218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572460799	chr4:79911218-79911219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1564461	chr4:79911221-79911222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564496835	chr4:79911225-79911226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370491910	chr4:79911227-79911228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369969734	chr4:79911228-79911229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7439355	chr4:79911229-79911230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28507627	chr4:79911232-79911233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs5859662	chr4:79911239-79911240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376007676	chr4:79911240-79911241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200673009	chr4:79911249-79911250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532415771	chr4:79911250-79911251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs80170283	chr4:79911278-79911279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145681367	chr4:79911279-79911280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10534036	chr4:79911282-79911283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs57261941	chr4:79911300-79911301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372893963	chr4:79911323-79911324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552534983	chr4:79911336-79911337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562651035	chr4:79911344-79911345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531582300	chr4:79911394-79911395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377119858	chr4:79911397-79911398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548092410	chr4:79911398-79911399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546958873	chr4:79911403-79911404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113236633	chr4:79911414-79911415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568100615	chr4:79911421-79911422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111674637	chr4:79911423-79911424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1383429	chr4:79911490-79911491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs550992718	chr4:79911552-79911553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184225939	chr4:79911554-79911555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567693661	chr4:79911601-79911602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187767246	chr4:79911620-79911621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576217737	chr4:79911667-79911668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542758562	chr4:79911679-79911680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536531895	chr4:79911691-79911692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562049887	chr4:79911696-79911697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1564460	chr4:79911699-79911700	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs144735854	chr4:79911738-79911739	Weak transcription Enhancers	n/a	n/a	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
lymphocytic leukemia	21291569	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
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79905000-79917600	Weak transcription	Aorta	Aorta
2	chr4:79911200-79911400	Enhancers	Psoas Muscle	Psoas
3	chr4:79911400-79915200	Weak transcription	Psoas Muscle	Psoas
4	chr4:79911600-79913000	Enhancers	Fetal Heart	heart
5	chr4:79912200-79912800	Enhancers	Brain Substantia Nigra	brain
6	chr4:79912800-79913200	Enhancers	Left Ventricle	heart
7	chr4:79917600-79917800	ZNF genes & repeats	Aorta	Aorta
8	chr4:79917800-79923400	Weak transcription	Aorta	Aorta
9	chr4:79922600-79922800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
10	chr4:79924800-79925400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:79934400-79935600	Enhancers	Dnd41	blood
12	chr4:79934600-79935200	Enhancers	Primary hematopoietic stem cells	blood
13	chr4:79934600-79935400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:79935000-79935400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:79935200-79936000	Enhancers	Fetal Heart	heart
16	chr4:79935800-79936800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:79936000-79936600	Weak transcription	Fetal Heart	heart
18	chr4:79936600-79936800	Enhancers	Fetal Heart	heart
19	chr4:79936600-79937000	Enhancers	Brain Substantia Nigra	brain
20	chr4:79936800-79937200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:79937200-79938200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:79938000-79938400	Enhancers	Pancreas	Pancrea
23	chr4:79938200-79942400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:79938400-79943600	Weak transcription	Pancreas	Pancrea
25	chr4:79942200-79943600	Enhancers	NHEK	skin
26	chr4:79942400-79942800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:79942400-79943000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:79942400-79944000	Enhancers	Gastric	stomach
29	chr4:79942600-79943400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:79942800-79947000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:79943200-79943600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:79943800-79944000	Enhancers	Esophagus	oesophagus
33	chr4:79943800-79944000	Enhancers	Pancreas	Pancrea
34	chr4:79944000-79945000	Weak transcription	Esophagus	oesophagus
35	chr4:79945000-79945200	Enhancers	Esophagus	oesophagus
36	chr4:79946200-79947200	Enhancers	Stomach Mucosa	stomach
37	chr4:79947000-79947600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:79951400-79951800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr4:79951800-79952200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr4:79952000-79952600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:79952200-79952600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:79952200-79952800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr4:79952200-79953000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr4:79952400-79952800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr4:79952400-79952800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr4:79952400-79953800	Enhancers	Fetal Heart	heart
47	chr4:79953800-79958200	Weak transcription	Fetal Heart	heart
48	chr4:79957400-79957600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:79957600-79959000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:79958200-79959800	Enhancers	Fetal Heart	heart

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