Variant report

Variant	nsv520813
Chromosome Location	chr4:22783714-22824021
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:22816382..22818106-chr4:22821091..22824068,2	K562	blood:
2	chr4:22796834..22798825-chr4:22803164..22804695,2	K562	blood:
3	chr4:22816382..22818106-chr4:22821091..22824068,2	K562	blood:
4	chr4:22796834..22798825-chr4:22803164..22804695,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SOD3-13	chr4:22823158-22825371	NONHSAT095768

Extended variants
information (count: 1534 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1534 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs358248	chr4:22783714-22783715	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs28594549	chr4:22783744-22783745	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs146510142	chr4:22783765-22783766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549247124	chr4:22783860-22783861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567778189	chr4:22783939-22783940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35644053	chr4:22783995-22783996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534783056	chr4:22784013-22784014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528239866	chr4:22784091-22784092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542995571	chr4:22784105-22784106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371786440	chr4:22784116-22784117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75108679	chr4:22784140-22784141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571526859	chr4:22784157-22784158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188614597	chr4:22784159-22784160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556893602	chr4:22784179-22784180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200253565	chr4:22784188-22784189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34799478	chr4:22784193-22784194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546687774	chr4:22784194-22784195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397992542	chr4:22784210-22784211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576079399	chr4:22784266-22784267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575164759	chr4:22784278-22784279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536259164	chr4:22784279-22784280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61794900	chr4:22784293-22784294	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs572605571	chr4:22784330-22784331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541183927	chr4:22784349-22784350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553188520	chr4:22784354-22784355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191016133	chr4:22784373-22784374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545408131	chr4:22784401-22784402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183154507	chr4:22784439-22784440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373504489	chr4:22784443-22784444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563903216	chr4:22784458-22784459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138137652	chr4:22784459-22784460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147375231	chr4:22784462-22784463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368905218	chr4:22784463-22784464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111569877	chr4:22784467-22784468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543030680	chr4:22784477-22784478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561319796	chr4:22784478-22784479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533277722	chr4:22784482-22784483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116359000	chr4:22784483-22784484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143629235	chr4:22784504-22784505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532421382	chr4:22784538-22784539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550565815	chr4:22784574-22784575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371674661	chr4:22784621-22784622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4697344	chr4:22784626-22784627	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs369917870	chr4:22784628-22784629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535824302	chr4:22784708-22784709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554151262	chr4:22784797-22784798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566218470	chr4:22784836-22784837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533690331	chr4:22784852-22784853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553131526	chr4:22784920-22784921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567533842	chr4:22784926-22784927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22769400-22821200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr4:22780200-22819400	Weak transcription	Liver	Liver
3	chr4:22780800-22785200	Weak transcription	Fetal Intestine Small	intestine
4	chr4:22781000-22788800	Weak transcription	Fetal Intestine Large	intestine
5	chr4:22783400-22784800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:22784800-22788200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr4:22785200-22786000	Strong transcription	Fetal Intestine Small	intestine
8	chr4:22786000-22828600	Weak transcription	Fetal Intestine Small	intestine
9	chr4:22788200-22791000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr4:22789000-22789400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr4:22789000-22789600	Enhancers	Primary hematopoietic stem cells	blood
12	chr4:22789000-22789800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr4:22789000-22790000	Enhancers	Primary B cells from peripheral blood	blood
14	chr4:22789200-22790000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:22789600-22790000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:22789600-22790000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr4:22790400-22790600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr4:22797000-22821400	Weak transcription	Fetal Intestine Large	intestine
19	chr4:22805200-22805600	Enhancers	Fetal Muscle Leg	muscle
20	chr4:22812400-22813200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:22816400-22816800	Enhancers	Colon Smooth Muscle	Colon
22	chr4:22816400-22816800	Enhancers	Rectal Smooth Muscle	rectum
23	chr4:22816800-22821600	Weak transcription	Colon Smooth Muscle	Colon
24	chr4:22819400-22822600	Strong transcription	Liver	Liver
25	chr4:22821200-22822000	Strong transcription	Duodenum Mucosa	Duodenum
26	chr4:22821400-22822000	Strong transcription	Fetal Intestine Large	intestine
27	chr4:22821600-22822000	Enhancers	Colon Smooth Muscle	Colon
28	chr4:22822000-22822200	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:22822000-22823600	Weak transcription	Fetal Intestine Large	intestine
30	chr4:22822000-22823800	Enhancers	Fetal Brain Female	brain
31	chr4:22822000-22833800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr4:22822200-22822600	Enhancers	Colon Smooth Muscle	Colon
33	chr4:22822600-22824400	Weak transcription	Liver	Liver

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