Variant report

Variant	nsv829148
Chromosome Location	chr22:29058867-29066285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29057363..29060342-chr22:29137660..29139710,2	MCF-7	breast:
2	chr22:29048724..29050246-chr22:29057415..29059766,2	K562	blood:
3	chr22:29065798..29067377-chr22:29180206..29181854,2	MCF-7	breast:
4	chr22:29054009..29055541-chr22:29066036..29068259,2	K562	blood:
5	chr22:29065542..29067314-chr3:70716964..70718547,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100209	chromatin interactions
ENSG00000183765	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181039784	chr22:29058905-29058906	Active TSS Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs142522859	chr22:29058916-29058917	Active TSS Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs542511986	chr22:29059043-29059044	Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs563888493	chr22:29059054-29059055	Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs555842400	chr22:29059073-29059074	Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs576060081	chr22:29059120-29059121	Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs377494118	chr22:29059121-29059122	Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs150939928	chr22:29059128-29059129	Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs78416565	chr22:29059133-29059134	Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs375044580	chr22:29059163-29059164	Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs570525525	chr22:29059179-29059180	Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs528116926	chr22:29059217-29059218	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs535166699	chr22:29059219-29059220	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs545285580	chr22:29059236-29059237	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs546587936	chr22:29059248-29059249	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs567674364	chr22:29059260-29059261	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs186199049	chr22:29059291-29059292	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs556819227	chr22:29059328-29059329	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs113631719	chr22:29059338-29059339	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs199812410	chr22:29059440-29059441	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs367641157	chr22:29059463-29059464	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs572182439	chr22:29059478-29059479	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs571951546	chr22:29059507-29059508	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs568737474	chr22:29059524-29059525	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs200588367	chr22:29059526-29059527	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs532862319	chr22:29059527-29059528	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs540999127	chr22:29059544-29059545	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs539614940	chr22:29059551-29059552	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs187504622	chr22:29059610-29059611	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs192314689	chr22:29059645-29059646	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs577276404	chr22:29059668-29059669	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs185378890	chr22:29059764-29059765	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs541119723	chr22:29060218-29060219	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs559531638	chr22:29060505-29060506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372342818	chr22:29060652-29060653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544317086	chr22:29060680-29060681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375403644	chr22:29060777-29060778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369689453	chr22:29060826-29060827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531148137	chr22:29060948-29060949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373156257	chr22:29061062-29061063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376347186	chr22:29061070-29061071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369355502	chr22:29061137-29061138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71315670	chr22:29061452-29061453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112015353	chr22:29061516-29061517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550043859	chr22:29061578-29061579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559319908	chr22:29061644-29061645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553353588	chr22:29061646-29061647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570874242	chr22:29061825-29061826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113922590	chr22:29061995-29061996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538664572	chr22:29062088-29062089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29046000-29059000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr22:29046400-29073800	Weak transcription	Ovary	ovary
3	chr22:29049000-29059000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:29049400-29059200	Weak transcription	Fetal Muscle Leg	muscle
5	chr22:29052600-29074600	Weak transcription	Colon Smooth Muscle	Colon
6	chr22:29053400-29066800	Weak transcription	Fetal Lung	lung
7	chr22:29056800-29074600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr22:29057600-29070200	Weak transcription	Fetal Stomach	stomach
9	chr22:29058000-29070200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr22:29058200-29059200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr22:29058600-29059200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr22:29058600-29059200	Active TSS	K562	blood
13	chr22:29058600-29059400	Active TSS	A549	lung
14	chr22:29058800-29059000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:29058800-29059200	Active TSS	Liver	Liver
16	chr22:29058800-29059200	Active TSS	Duodenum Mucosa	Duodenum
17	chr22:29058800-29059200	Active TSS	HepG2	liver
18	chr22:29058800-29059400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr22:29058800-29059400	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr22:29058800-29059400	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr22:29058800-29059400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr22:29058800-29059400	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr22:29058800-29059400	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr22:29058800-29059400	Active TSS	Hela-S3	cervix
25	chr22:29058800-29059400	Active TSS	NHEK	skin
26	chr22:29059000-29059200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr22:29059000-29059200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr22:29059000-29059200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr22:29059000-29059200	Enhancers	Esophagus	oesophagus
30	chr22:29059000-29059400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr22:29059000-29059400	Active TSS	Placenta	Placenta
32	chr22:29064600-29074800	Weak transcription	Left Ventricle	heart
33	chr22:29064800-29069800	Weak transcription	HUVEC	blood vessel
34	chr22:29065600-29067000	Enhancers	NHDF-Ad	bronchial
35	chr22:29065800-29066400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
36	chr22:29065800-29067200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:29066200-29066400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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