Variant report

Variant	nsv829165
Chromosome Location	chr22:30450894-30459421
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30436980..30439032-chr22:30450263..30452831,2	MCF-7	breast:
2	chr22:30194687..30195486-chr22:30450509..30451205,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100325	chromatin interactions

Extended variants
information (count: 271 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536076413	chr22:30450906-30450907	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs183256256	chr22:30450912-30450913	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs739615	chr22:30450920-30450921	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs187308168	chr22:30450925-30450926	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150609002	chr22:30450926-30450927	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs377750367	chr22:30450935-30450936	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs572938906	chr22:30450945-30450946	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs191347470	chr22:30450966-30450967	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs539613294	chr22:30450980-30450981	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs555272193	chr22:30451032-30451033	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs550060656	chr22:30451033-30451034	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs573573377	chr22:30451174-30451175	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182174751	chr22:30451219-30451220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371038091	chr22:30451309-30451310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370249230	chr22:30451352-30451353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139703422	chr22:30451395-30451396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186862688	chr22:30451396-30451397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562031230	chr22:30451397-30451398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9608841	chr22:30451421-30451422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193477	chr22:30451486-30451487	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs193213903	chr22:30451487-30451488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117611497	chr22:30451513-30451514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149789171	chr22:30451577-30451578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56392746	chr22:30451688-30451689	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs551155077	chr22:30451790-30451791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375057765	chr22:30451812-30451813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113981204	chr22:30451816-30451817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs5753005	chr22:30451843-30451844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540011545	chr22:30451870-30451871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553440017	chr22:30451871-30451872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565654235	chr22:30451879-30451880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557861796	chr22:30451886-30451887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534349892	chr22:30451920-30451921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566607952	chr22:30451925-30451926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374297840	chr22:30451976-30451977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34648719	chr22:30452014-30452015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533955775	chr22:30452021-30452022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543104941	chr22:30452033-30452034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555309430	chr22:30452049-30452050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115088934	chr22:30452209-30452210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544132378	chr22:30452230-30452231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377098412	chr22:30452233-30452234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185568304	chr22:30452238-30452239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530352518	chr22:30452253-30452254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116078167	chr22:30452354-30452355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572135205	chr22:30452379-30452380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs5753006	chr22:30452470-30452471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs199821037	chr22:30452474-30452475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542653315	chr22:30452488-30452489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs578010464	chr22:30452553-30452554	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Cancer	20164919	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30449400-30452400	Enhancers	HepG2	liver
2	chr22:30450000-30451200	Enhancers	Fetal Heart	heart
3	chr22:30450200-30451200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:30450200-30451400	Enhancers	Fetal Intestine Small	intestine
5	chr22:30450400-30451000	Enhancers	Fetal Kidney	kidney
6	chr22:30450400-30451000	Enhancers	Pancreas	Pancrea
7	chr22:30450400-30451400	Enhancers	Stomach Mucosa	stomach
8	chr22:30450600-30451000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:30450600-30451000	Enhancers	Fetal Intestine Large	intestine
10	chr22:30450600-30451000	Enhancers	Right Atrium	heart
11	chr22:30450600-30451000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr22:30450600-30451200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr22:30450600-30451200	Enhancers	Adipose Nuclei	Adipose
14	chr22:30450600-30451400	Enhancers	Gastric	stomach
15	chr22:30450600-30452800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr22:30451200-30451600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr22:30451200-30451600	Weak transcription	Adipose Nuclei	Adipose
18	chr22:30451600-30452800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr22:30451600-30452800	Enhancers	Adipose Nuclei	Adipose
20	chr22:30452000-30452600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr22:30452200-30452400	Enhancers	NHDF-Ad	bronchial
22	chr22:30452600-30456200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr22:30453000-30453200	Enhancers	NHDF-Ad	bronchial
24	chr22:30455000-30455400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr22:30455000-30455400	Enhancers	HMEC	breast
26	chr22:30455000-30455600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr22:30455000-30455600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr22:30455000-30455800	Enhancers	NHEK	skin
29	chr22:30456400-30457000	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr22:30456600-30456800	Enhancers	Fetal Intestine Small	intestine
31	chr22:30456600-30460000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr22:30456800-30457800	Weak transcription	Fetal Intestine Small	intestine
33	chr22:30457000-30457400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr22:30457400-30458200	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr22:30457600-30458400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr22:30457600-30458400	Enhancers	Colonic Mucosa	Colon
37	chr22:30457800-30459600	Enhancers	Fetal Intestine Small	intestine
38	chr22:30458000-30459800	Enhancers	HepG2	liver
39	chr22:30458200-30459000	Enhancers	Stomach Mucosa	stomach
40	chr22:30458400-30458600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr22:30458400-30458800	Enhancers	Fetal Intestine Large	intestine
42	chr22:30458400-30459400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr22:30458600-30459200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr22:30459400-30460800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood

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