Variant report

Variant	nsv1056001
Chromosome Location	chr22:34206144-34221959
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	chr22:34210266..34212147-chr22:34215786..34217625,2	MCF-7	breast:
2	chr22:34210266..34212147-chr22:34215786..34217625,2	MCF-7	breast:

Extended variants
information (count: 697 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:697 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1018788	chr22:34206144-34206145	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528702568	chr22:34206194-34206195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs151311802	chr22:34206211-34206212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370721163	chr22:34206217-34206218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568670336	chr22:34206274-34206275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537790461	chr22:34206303-34206304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545663315	chr22:34206309-34206310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs5999110	chr22:34206341-34206342	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs75286461	chr22:34206365-34206366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113417020	chr22:34206424-34206425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371987020	chr22:34206433-34206434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550657740	chr22:34206447-34206448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567322356	chr22:34206531-34206532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186958271	chr22:34206573-34206574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10427812	chr22:34206600-34206601	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs546729550	chr22:34206613-34206614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189889875	chr22:34206665-34206666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs5754687	chr22:34206711-34206712	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs570625484	chr22:34206715-34206716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200170340	chr22:34206728-34206729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78405683	chr22:34206729-34206730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140544802	chr22:34206750-34206751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs62227775	chr22:34206773-34206774	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs182167901	chr22:34206774-34206775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150491665	chr22:34206796-34206797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538146813	chr22:34206797-34206798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371928024	chr22:34206803-34206804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145394683	chr22:34206823-34206824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545866856	chr22:34206836-34206837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550493758	chr22:34206855-34206856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs5749671	chr22:34206867-34206868	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs5754688	chr22:34206880-34206881	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs540317565	chr22:34206894-34206895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548488013	chr22:34206899-34206900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs135204	chr22:34206903-34206904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138507501	chr22:34206930-34206931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187450740	chr22:34206956-34206957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111750251	chr22:34206966-34206967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570426883	chr22:34206984-34206985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112551222	chr22:34206992-34206993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546626694	chr22:34207001-34207002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535911228	chr22:34207028-34207029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566452058	chr22:34207043-34207044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143493599	chr22:34207051-34207052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs16993070	chr22:34207052-34207053	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs376992964	chr22:34207092-34207093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148043463	chr22:34207204-34207205	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs193253935	chr22:34207272-34207273	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs116320180	chr22:34207300-34207301	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs557655113	chr22:34207318-34207319	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
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
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	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
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Prostate cancer	22341455	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:376 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34193600-34208200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:34197600-34207600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:34197800-34212200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr22:34199000-34206200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:34199800-34208000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:34200200-34207000	Weak transcription	Fetal Lung	lung
7	chr22:34200600-34234200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr22:34201000-34207200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:34202000-34208400	Enhancers	Fetal Heart	heart
10	chr22:34202400-34207200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr22:34202600-34206400	Weak transcription	Fetal Stomach	stomach
12	chr22:34202600-34206600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr22:34202600-34208200	Weak transcription	Stomach Mucosa	stomach
14	chr22:34202600-34208200	Weak transcription	Spleen	Spleen
15	chr22:34202800-34207400	Weak transcription	Fetal Intestine Small	intestine
16	chr22:34202800-34208200	Weak transcription	Lung	lung
17	chr22:34203200-34207600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr22:34203200-34208200	Weak transcription	Liver	Liver
19	chr22:34203600-34207200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:34203600-34207800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr22:34203800-34206400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr22:34204200-34207000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr22:34204200-34207200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr22:34204200-34208000	Weak transcription	Aorta	Aorta
25	chr22:34204400-34207200	Weak transcription	NHDF-Ad	bronchial
26	chr22:34204600-34206400	Weak transcription	Colon Smooth Muscle	Colon
27	chr22:34204600-34207000	Weak transcription	NHLF	lung
28	chr22:34204600-34207200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr22:34204800-34206200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr22:34204800-34206200	Weak transcription	Left Ventricle	heart
31	chr22:34204800-34206200	Weak transcription	Psoas Muscle	Psoas
32	chr22:34204800-34206400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr22:34204800-34206400	Weak transcription	Right Ventricle	heart
34	chr22:34204800-34206800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr22:34204800-34207000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr22:34204800-34207000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr22:34204800-34207800	Weak transcription	Ovary	ovary
38	chr22:34204800-34211400	Weak transcription	Brain Germinal Matrix	brain
39	chr22:34204800-34212200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr22:34205000-34206400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr22:34205200-34206200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr22:34205200-34206200	Weak transcription	Right Atrium	heart
43	chr22:34205200-34209200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr22:34205400-34207800	Weak transcription	GM12878-XiMat	blood
45	chr22:34205800-34206600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr22:34205800-34209000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr22:34205800-34209600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr22:34206000-34206200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr22:34206000-34208800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr22:34206200-34206400	Enhancers	H1 Cell Line	embryonic stem cell

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