Variant report

Variant	nsv519517
Chromosome Location	chr22:29477841-29482221
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	chr22:29477953..29480319-chr22:29546529..29549187,2	K562	blood:
2	chr22:29473028..29475906-chr22:29476306..29479164,3	K562	blood:
3	chr22:29478442..29480805-chr22:29482878..29485430,2	K562	blood:
4	chr22:29473632..29476528-chr22:29480609..29483295,2	K562	blood:
5	chr22:29467048..29472637-chr22:29472832..29480427,12	K562	blood:
6	chr22:29209731..29211561-chr22:29476992..29478626,2	MCF-7	breast:
7	chr22:29467758..29469551-chr22:29478358..29480650,2	K562	blood:
8	chr22:29478819..29480764-chr22:29547002..29549187,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000183762	chromatin interactions
ENSG00000272858	chromatin interactions

Extended variants
information (count: 182 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs20037	chr22:29477841-29477842	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573016812	chr22:29477848-29477849	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs540780896	chr22:29477857-29477858	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs559144459	chr22:29477866-29477867	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs143785592	chr22:29477904-29477905	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs545122525	chr22:29477919-29477920	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs541793544	chr22:29477950-29477951	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs369518794	chr22:29477955-29477956	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs115371301	chr22:29477967-29477968	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs186674840	chr22:29477994-29477995	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs139758060	chr22:29478022-29478023	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs552239743	chr22:29478070-29478071	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs112991290	chr22:29478080-29478081	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
14	rs386820561	chr22:29478081-29478082	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs397832115	chr22:29478083-29478084	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs375710060	chr22:29478084-29478085	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs368022129	chr22:29478085-29478086	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs565076693	chr22:29478086-29478087	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs134617	chr22:29478087-29478088	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs143674004	chr22:29478147-29478148	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs528195029	chr22:29478176-29478177	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs189856368	chr22:29478186-29478187	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs544424903	chr22:29478194-29478195	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs556621346	chr22:29478198-29478199	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs374937877	chr22:29478208-29478209	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs134618	chr22:29478256-29478257	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs530402642	chr22:29478257-29478258	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs183894551	chr22:29478276-29478277	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs134619	chr22:29478374-29478375	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs537013256	chr22:29478411-29478412	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs116176021	chr22:29478438-29478439	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs139534119	chr22:29478460-29478461	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs534808065	chr22:29478465-29478466	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs370339793	chr22:29478503-29478504	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs188736594	chr22:29478538-29478539	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs193281487	chr22:29478584-29478585	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs149696290	chr22:29478609-29478610	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs557014838	chr22:29478642-29478643	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575504788	chr22:29478676-29478677	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs144471610	chr22:29478702-29478703	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564090709	chr22:29478736-29478737	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs134620	chr22:29478760-29478761	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs134621	chr22:29478831-29478832	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs559987442	chr22:29478897-29478898	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs139105253	chr22:29478911-29478912	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs114555559	chr22:29478936-29478937	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs570210084	chr22:29478958-29478959	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs143985574	chr22:29478961-29478962	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs551418176	chr22:29478981-29478982	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs552118765	chr22:29478982-29478983	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Cat eye syndrome	16708226	CNVD
Olfactory neuroblastoma	18408657	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29470400-29485800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:29470600-29478400	Weak transcription	Gastric	stomach
3	chr22:29470600-29478400	Weak transcription	Pancreas	Pancrea
4	chr22:29471400-29488000	Weak transcription	Right Ventricle	heart
5	chr22:29472400-29489000	Weak transcription	Fetal Intestine Small	intestine
6	chr22:29473200-29481000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr22:29474000-29478000	Enhancers	NHDF-Ad	bronchial
8	chr22:29474000-29481400	Enhancers	Fetal Lung	lung
9	chr22:29474200-29478800	Enhancers	Fetal Brain Female	brain
10	chr22:29474800-29478200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr22:29474800-29478800	Enhancers	Hela-S3	cervix
12	chr22:29474800-29480400	Enhancers	Fetal Brain Male	brain
13	chr22:29474800-29480600	Enhancers	Ovary	ovary
14	chr22:29475000-29489200	Weak transcription	Fetal Intestine Large	intestine
15	chr22:29475200-29479000	Enhancers	Adipose Nuclei	Adipose
16	chr22:29475200-29480800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr22:29475200-29481000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr22:29475400-29478400	Weak transcription	Esophagus	oesophagus
19	chr22:29475600-29480400	Weak transcription	Small Intestine	intestine
20	chr22:29475600-29485200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr22:29475600-29491000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr22:29475600-29505600	Weak transcription	Spleen	Spleen
23	chr22:29475800-29478600	Weak transcription	K562	blood
24	chr22:29475800-29479800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr22:29476000-29478800	Enhancers	Brain Germinal Matrix	brain
26	chr22:29476000-29480200	Weak transcription	HSMM	muscle
27	chr22:29476200-29478400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr22:29476200-29478400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr22:29476200-29478800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr22:29476200-29479000	Enhancers	Liver	Liver
31	chr22:29476400-29478000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr22:29476400-29478400	Enhancers	Dnd41	blood
33	chr22:29476400-29487800	Weak transcription	Brain Hippocampus Middle	brain
34	chr22:29476400-29489600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr22:29476600-29478400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr22:29476600-29478400	Weak transcription	Colon Smooth Muscle	Colon
37	chr22:29476600-29479600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr22:29476600-29489400	Weak transcription	Psoas Muscle	Psoas
39	chr22:29476600-29491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr22:29476800-29478000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr22:29476800-29478600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr22:29476800-29479600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr22:29476800-29479600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr22:29476800-29479600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr22:29476800-29480000	Weak transcription	Brain Anterior Caudate	brain
46	chr22:29476800-29480200	Weak transcription	HSMMtube	muscle
47	chr22:29476800-29485400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr22:29476800-29487600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr22:29476800-29494800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr22:29477000-29485400	Weak transcription	Right Atrium	heart

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