Variant report

Variant	nsv588931
Chromosome Location	chr22:33834668-33907964
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:33848078-33848098	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:33904039-33904171	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:33906253-33906634	HepG2	liver:	n/a	n/a
4	ATF1	chr22:33860869-33861049	K562	blood:	n/a	n/a
5	ATF2	chr22:33868200-33869234	GM12878	blood:	n/a	n/a
6	ATF2	chr22:33868131-33869237	GM12878	blood:	n/a	n/a
7	BATF	chr22:33868152-33869285	GM12878	blood:	n/a	n/a
8	BATF	chr22:33891586-33891884	GM12878	blood:	n/a	n/a
9	BATF	chr22:33866879-33867247	GM12878	blood:	n/a	chr22:33866987-33866995
10	BATF	chr22:33891506-33891872	GM12878	blood:	n/a	n/a
11	BATF	chr22:33872793-33873006	GM12878	blood:	n/a	chr22:33872893-33872903
12	BATF	chr22:33868385-33869207	GM12878	blood:	n/a	n/a
13	BCL11A	chr22:33868171-33869244	GM12878	blood:	n/a	n/a
14	BCL11A	chr22:33868365-33868946	GM12878	blood:	n/a	n/a
15	BCL3	chr22:33868354-33868648	GM12878	blood:	n/a	n/a
16	BCL3	chr22:33873464-33873860	GM12878	blood:	n/a	n/a
17	BCL3	chr22:33868257-33868999	GM12878	blood:	n/a	n/a
18	BCL3	chr22:33863822-33864245	GM12878	blood:	n/a	n/a
19	BCL3	chr22:33860625-33861035	GM12878	blood:	n/a	n/a
20	BCLAF1	chr22:33868189-33869190	GM12878	blood:	n/a	n/a
21	BCLAF1	chr22:33868067-33869036	GM12878	blood:	n/a	n/a
22	BHLHE40	chr22:33873649-33873835	GM12878	blood:	n/a	n/a
23	BHLHE40	chr22:33866541-33866687	HepG2	liver:	n/a	n/a
24	BHLHE40	chr22:33866486-33867052	GM12878	blood:	n/a	n/a
25	BHLHE40	chr22:33870438-33870885	GM12878	blood:	n/a	n/a
26	BHLHE40	chr22:33868284-33869174	GM12878	blood:	n/a	n/a
27	BHLHE40	chr22:33872694-33873024	HepG2	liver:	n/a	n/a
28	CEBPB	chr22:33868123-33869272	GM12878	blood:	n/a	n/a
29	CEBPB	chr22:33906429-33906799	HepG2	liver:	n/a	chr22:33906617-33906628
30	CEBPB	chr22:33906484-33906693	H1-hESC	embryonic stem cell:	n/a	chr22:33906617-33906628
31	CEBPB	chr22:33886118-33886192	IMR90	lung:	n/a	n/a
32	CEBPB	chr22:33906476-33906720	HepG2	liver:	n/a	chr22:33906617-33906628
33	CEBPB	chr22:33906425-33906797	HepG2	liver:	n/a	chr22:33906617-33906628
34	CEBPB	chr22:33872780-33872867	HepG2	liver:	n/a	n/a
35	CEBPB	chr22:33882648-33882750	HepG2	liver:	n/a	chr22:33882708-33882719 chr22:33882708-33882717
36	CEBPB	chr22:33906565-33906589	K562	blood:	n/a	n/a
37	CEBPB	chr22:33903931-33904225	HepG2	liver:	n/a	chr22:33904067-33904078 chr22:33904067-33904080 chr22:33904069-33904080
38	CEBPB	chr22:33844014-33844214	HepG2	liver:	n/a	chr22:33844164-33844175
39	CEBPB	chr22:33889815-33890109	HepG2	liver:	n/a	n/a
40	CEBPB	chr22:33906325-33906720	HepG2	liver:	n/a	chr22:33906617-33906628
41	CEBPB	chr22:33895725-33895741	A549	lung:	n/a	n/a
42	CEBPD	chr22:33906493-33906814	HepG2	liver:	n/a	n/a
43	CEBPD	chr22:33906494-33906691	HepG2	liver:	n/a	n/a
44	CHD1	chr22:33868112-33869105	GM12878	blood:	n/a	n/a
45	CHD1	chr22:33866363-33866938	GM12878	blood:	n/a	n/a
46	CHD2	chr22:33843608-33843739	GM12878	blood:	n/a	n/a
47	CHD2	chr22:33888121-33888551	GM12878	blood:	n/a	n/a
48	CHD2	chr22:33866460-33866928	GM12878	blood:	n/a	n/a
49	CHD2	chr22:33868187-33869183	GM12878	blood:	n/a	n/a
50	CREB1	chr22:33902317-33902600	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:33826221..33828441-chr22:33835268..33837530,2	MCF-7	breast:
2	chr22:33834090..33836175-chr22:34315655..34317389,2	MCF-7	breast:
3	chr17:31001718..31002627-chr22:33884453..33885240,2	MCF-7	breast:
4	chr22:33904729..33906415-chr22:33911852..33913937,2	K562	blood:

Variant related genes	Relation type
MIR4764	TF binding region
ENSG00000133424	chromatin interactions

Extended variants
information (count: 3182 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:3182 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8141158	chr22:33834668-33834669	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145194808	chr22:33834675-33834676	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs566894195	chr22:33834690-33834691	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs536562922	chr22:33834696-33834697	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs182255310	chr22:33834705-33834706	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs8141385	chr22:33834740-33834741	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs78358038	chr22:33834742-33834743	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs149130426	chr22:33834748-33834749	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs187512842	chr22:33834759-33834760	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs143296975	chr22:33834766-33834767	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs561291491	chr22:33834890-33834891	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs192309475	chr22:33834893-33834894	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs151283024	chr22:33834905-33834906	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs562595781	chr22:33834919-33834920	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs531624196	chr22:33834923-33834924	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs141625537	chr22:33834924-33834925	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs565066833	chr22:33834925-33834926	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs535133361	chr22:33834969-33834970	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375346271	chr22:33834975-33834976	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs571244315	chr22:33834999-33835000	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs147100361	chr22:33835002-33835003	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571352631	chr22:33835026-33835027	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547054761	chr22:33835057-33835058	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs183823187	chr22:33835108-33835109	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs535797465	chr22:33835114-33835115	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549746368	chr22:33835132-33835133	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs138469951	chr22:33835156-33835157	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs78977432	chr22:33835199-33835200	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs77570688	chr22:33835201-33835202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs369033919	chr22:33835242-33835243	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs369128693	chr22:33835300-33835301	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs188843906	chr22:33835304-33835305	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558915168	chr22:33835371-33835372	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs144107590	chr22:33835378-33835379	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs535142094	chr22:33835409-33835410	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs555062955	chr22:33835435-33835436	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs2283906	chr22:33835517-33835518	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs543490507	chr22:33835586-33835587	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs192070089	chr22:33835635-33835636	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs150259161	chr22:33835642-33835643	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs62225296	chr22:33835679-33835680	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs545256588	chr22:33835706-33835707	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs564947828	chr22:33835719-33835720	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs377043055	chr22:33835748-33835749	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs527443194	chr22:33835753-33835754	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs547091982	chr22:33835794-33835795	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs184287596	chr22:33835882-33835883	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs535819810	chr22:33835906-33835907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs73882227	chr22:33835952-33835953	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs549547175	chr22:33835953-33835954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:746 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33778600-33852000	Weak transcription	Pancreas	Pancrea
2	chr22:33819200-33839800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr22:33823000-33836000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr22:33823400-33836800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr22:33823400-33839400	Weak transcription	Fetal Muscle Leg	muscle
6	chr22:33826000-33837800	Weak transcription	GM12878-XiMat	blood
7	chr22:33826800-33844600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr22:33827600-33838000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr22:33828200-33837400	Weak transcription	Ovary	ovary
10	chr22:33828200-33848200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr22:33828200-33855000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr22:33828400-33836200	Weak transcription	Adipose Nuclei	Adipose
13	chr22:33828800-33836000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr22:33828800-33857800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr22:33832600-33834800	Enhancers	H9 Cell Line	embryonic stem cell
16	chr22:33832800-33839200	Weak transcription	Right Ventricle	heart
17	chr22:33833400-33835000	Enhancers	NHEK	skin
18	chr22:33833400-33835400	Enhancers	HMEC	breast
19	chr22:33833600-33835000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr22:33833600-33835400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr22:33833600-33835600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr22:33833600-33835600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr22:33833800-33834800	Enhancers	NH-A	brain
24	chr22:33833800-33834800	Enhancers	NHDF-Ad	bronchial
25	chr22:33833800-33835000	Enhancers	HSMM	muscle
26	chr22:33833800-33835000	Enhancers	Osteobl	bone
27	chr22:33833800-33848200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr22:33834000-33834800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr22:33834000-33834800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr22:33834000-33834800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr22:33834000-33834800	Enhancers	HSMMtube	muscle
32	chr22:33834000-33835000	Enhancers	Brain Cingulate Gyrus	brain
33	chr22:33834000-33838000	Weak transcription	Fetal Heart	heart
34	chr22:33834200-33834800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr22:33834200-33839400	Weak transcription	Lung	lung
36	chr22:33834200-33848200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr22:33834200-33848400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr22:33834400-33834800	Enhancers	Brain Hippocampus Middle	brain
39	chr22:33834400-33836600	Weak transcription	Fetal Stomach	stomach
40	chr22:33834400-33836800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr22:33834400-33838200	Weak transcription	Esophagus	oesophagus
42	chr22:33834600-33834800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr22:33834600-33834800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr22:33834600-33835000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr22:33834600-33835000	Enhancers	A549	lung
46	chr22:33834600-33836800	Weak transcription	Gastric	stomach
47	chr22:33834600-33839200	Weak transcription	Left Ventricle	heart
48	chr22:33834600-33839400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr22:33834600-33848200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr22:33834800-33836400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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