Variant report

Variant	nsv588897
Chromosome Location	chr22:33116314-33139230
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33139149..33141929-chr22:33149411..33151571,2	MCF-7	breast:
2	chr22:33115192..33117854-chr22:33156131..33157646,2	MCF-7	breast:
3	22:32012966-32043914..22:33122663-33128227	K562	blood:

Variant related genes	Relation type
ENSG00000241878	chromatin interactions

Extended variants
information (count: 909 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:909 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs743742	chr22:33116314-33116315	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548704146	chr22:33116317-33116318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148011137	chr22:33116334-33116335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142417278	chr22:33116347-33116348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188589659	chr22:33116369-33116370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144783772	chr22:33116372-33116373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577247189	chr22:33116392-33116393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138722025	chr22:33116433-33116434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs743743	chr22:33116435-33116436	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs193163494	chr22:33116557-33116558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141737477	chr22:33116566-33116567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563014171	chr22:33116568-33116569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150807410	chr22:33116584-33116585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139189151	chr22:33116644-33116645	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs564262775	chr22:33116668-33116669	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs743744	chr22:33116669-33116670	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs563437963	chr22:33116670-33116671	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs546840441	chr22:33116690-33116691	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs149356548	chr22:33116691-33116692	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs185031839	chr22:33116706-33116707	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs144656247	chr22:33116735-33116736	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs568619911	chr22:33116758-33116759	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs743745	chr22:33116779-33116780	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs731933	chr22:33116782-33116783	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs571776788	chr22:33116813-33116814	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs547660524	chr22:33116860-33116861	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs114204359	chr22:33116872-33116873	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs566150217	chr22:33116873-33116874	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs554530734	chr22:33116878-33116879	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs574382655	chr22:33116890-33116891	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs536682443	chr22:33116914-33116915	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs372927031	chr22:33116917-33116918	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs556559264	chr22:33116949-33116950	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs731932	chr22:33116959-33116960	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs117729147	chr22:33117055-33117056	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs564143141	chr22:33117114-33117115	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs530135646	chr22:33117116-33117117	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs577804048	chr22:33117163-33117164	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs540032874	chr22:33117164-33117165	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs376692704	chr22:33117197-33117198	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs560062785	chr22:33117209-33117210	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192757508	chr22:33117231-33117232	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546631262	chr22:33117269-33117270	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184788101	chr22:33117309-33117310	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145495882	chr22:33117387-33117388	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548571617	chr22:33117403-33117404	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs561324782	chr22:33117412-33117413	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs577171762	chr22:33117413-33117414	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs562116581	chr22:33117418-33117419	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs531321926	chr22:33117452-33117453	Enhancers Weak transcription Bivalent Enhancer	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
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33104400-33117000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr22:33110400-33116800	Weak transcription	NHDF-Ad	bronchial
3	chr22:33111000-33118600	Weak transcription	HSMMtube	muscle
4	chr22:33111400-33116800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr22:33112200-33121400	Enhancers	Fetal Thymus	thymus
6	chr22:33113000-33121600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr22:33113400-33120400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr22:33113800-33116800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:33113800-33116800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr22:33114000-33116400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr22:33114000-33116800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr22:33114200-33116400	Weak transcription	Spleen	Spleen
13	chr22:33114200-33116600	Weak transcription	NH-A	brain
14	chr22:33114200-33116600	Weak transcription	Osteobl	bone
15	chr22:33114200-33119400	Weak transcription	Esophagus	oesophagus
16	chr22:33114400-33116400	Weak transcription	Lung	lung
17	chr22:33114400-33116400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr22:33114400-33116600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr22:33114400-33116800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr22:33114400-33116800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr22:33114400-33116800	Weak transcription	Adipose Nuclei	Adipose
22	chr22:33114400-33116800	Weak transcription	Fetal Lung	lung
23	chr22:33114400-33116800	Weak transcription	Right Atrium	heart
24	chr22:33114400-33116800	Weak transcription	NHLF	lung
25	chr22:33114400-33117000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr22:33114400-33119000	Weak transcription	Small Intestine	intestine
27	chr22:33114400-33119400	Weak transcription	Left Ventricle	heart
28	chr22:33114400-33121400	Weak transcription	Colon Smooth Muscle	Colon
29	chr22:33114600-33116600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr22:33114600-33116600	Weak transcription	Fetal Stomach	stomach
31	chr22:33114600-33116600	Weak transcription	NHEK	skin
32	chr22:33114600-33121800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr22:33115000-33116600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr22:33115000-33116800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr22:33115000-33116800	Weak transcription	Placenta	Placenta
36	chr22:33115200-33117400	Enhancers	Fetal Muscle Leg	muscle
37	chr22:33115600-33116800	Enhancers	HepG2	liver
38	chr22:33115600-33119600	Enhancers	Thymus	Thymus
39	chr22:33115800-33117400	Enhancers	Fetal Intestine Large	intestine
40	chr22:33115800-33119400	Enhancers	Dnd41	blood
41	chr22:33115800-33122200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr22:33116000-33117600	Enhancers	Fetal Intestine Small	intestine
43	chr22:33116000-33119400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr22:33116000-33119600	Enhancers	Primary T cells from cord blood	blood
45	chr22:33116200-33117000	Enhancers	Fetal Kidney	kidney
46	chr22:33116200-33117400	Enhancers	Primary hematopoietic stem cells	blood
47	chr22:33116200-33117400	Enhancers	Fetal Muscle Trunk	muscle
48	chr22:33116200-33119400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr22:33116400-33116800	Enhancers	Rectal Smooth Muscle	rectum
50	chr22:33116400-33117400	Enhancers	Lung	lung

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