Variant report

Variant	nsv1055729
Chromosome Location	chr22:33835828-33875225
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:349)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:349 , 50 per page) page: 1 2 3 4 5 6 7

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	ATF1	chr22:33860869-33861049	K562	blood:	n/a	n/a
3	ATF2	chr22:33868200-33869234	GM12878	blood:	n/a	n/a
4	ATF2	chr22:33868131-33869237	GM12878	blood:	n/a	n/a
5	BATF	chr22:33868385-33869207	GM12878	blood:	n/a	n/a
6	BATF	chr22:33866879-33867247	GM12878	blood:	n/a	chr22:33866987-33866995
7	BATF	chr22:33872793-33873006	GM12878	blood:	n/a	chr22:33872893-33872903
8	BATF	chr22:33868152-33869285	GM12878	blood:	n/a	n/a
9	BCL11A	chr22:33868171-33869244	GM12878	blood:	n/a	n/a
10	BCL11A	chr22:33868365-33868946	GM12878	blood:	n/a	n/a
11	BCL3	chr22:33873464-33873860	GM12878	blood:	n/a	n/a
12	BCL3	chr22:33868257-33868999	GM12878	blood:	n/a	n/a
13	BCL3	chr22:33868354-33868648	GM12878	blood:	n/a	n/a
14	BCL3	chr22:33863822-33864245	GM12878	blood:	n/a	n/a
15	BCL3	chr22:33860625-33861035	GM12878	blood:	n/a	n/a
16	BCLAF1	chr22:33868067-33869036	GM12878	blood:	n/a	n/a
17	BCLAF1	chr22:33868189-33869190	GM12878	blood:	n/a	n/a
18	BHLHE40	chr22:33866486-33867052	GM12878	blood:	n/a	n/a
19	BHLHE40	chr22:33873649-33873835	GM12878	blood:	n/a	n/a
20	BHLHE40	chr22:33872694-33873024	HepG2	liver:	n/a	n/a
21	BHLHE40	chr22:33866541-33866687	HepG2	liver:	n/a	n/a
22	BHLHE40	chr22:33870438-33870885	GM12878	blood:	n/a	n/a
23	BHLHE40	chr22:33868284-33869174	GM12878	blood:	n/a	n/a
24	CEBPB	chr22:33868123-33869272	GM12878	blood:	n/a	n/a
25	CEBPB	chr22:33872780-33872867	HepG2	liver:	n/a	n/a
26	CEBPB	chr22:33844014-33844214	HepG2	liver:	n/a	chr22:33844164-33844175
27	CHD1	chr22:33868112-33869105	GM12878	blood:	n/a	n/a
28	CHD1	chr22:33866363-33866938	GM12878	blood:	n/a	n/a
29	CHD2	chr22:33868187-33869183	GM12878	blood:	n/a	n/a
30	CHD2	chr22:33843608-33843739	GM12878	blood:	n/a	n/a
31	CHD2	chr22:33866460-33866928	GM12878	blood:	n/a	n/a
32	CREB1	chr22:33868344-33869214	GM12878	blood:	n/a	n/a
33	CREB1	chr22:33868164-33869253	GM12878	blood:	n/a	n/a
34	CTCF	chr22:33868410-33868604	GM12878	blood:	n/a	n/a
35	CTCF	chr22:33863827-33863913	GM19238	blood:	n/a	n/a
36	CTCF	chr22:33863740-33863890	HPAF	blood vessel:	n/a	n/a
37	CTCF	chr22:33863760-33863910	MCF-7	breast:	n/a	n/a
38	CTCF	chr22:33863780-33863930	A549	lung:	n/a	n/a
39	CTCF	chr22:33863740-33863890	RPTEC	kidney:	n/a	n/a
40	CTCF	chr22:33863780-33863930	MCF-7	breast:	n/a	n/a
41	CTCF	chr22:33863680-33864024	GM12878	blood:	n/a	n/a
42	CTCF	chr22:33863841-33863908	GM10248	blood:	n/a	n/a
43	CTCF	chr22:33860825-33860924	GM19239	blood:	n/a	n/a
44	CTCF	chr22:33864040-33864190	GM12871	blood:	n/a	n/a
45	CTCF	chr22:33863780-33863930	NHDF-neo	bronchial:	n/a	n/a
46	CTCF	chr22:33863833-33863919	MCF-7	breast:	n/a	n/a
47	CTCF	chr22:33863720-33863870	AG04450	lung:	n/a	n/a
48	CTCF	chr22:33863760-33863910	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr22:33863767-33863951	Fibrobl	skin:	n/a	n/a
50	CTCF	chr22:33863760-33863910	AoAF	blood vessel:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33826221..33828441-chr22:33835268..33837530,2	MCF-7	breast:
2	chr22:33834090..33836175-chr22:34315655..34317389,2	MCF-7	breast:

No data

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

Extended variants
information (count: 1718 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1718 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184287596	chr22:33835882-33835883	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs535819810	chr22:33835906-33835907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs73882227	chr22:33835952-33835953	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs549547175	chr22:33835953-33835954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533521342	chr22:33835963-33835964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs532716039	chr22:33836047-33836048	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552556394	chr22:33836103-33836104	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572543338	chr22:33836187-33836188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566289055	chr22:33836215-33836216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs5998943	chr22:33836233-33836234	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs73882228	chr22:33836284-33836285	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs555198673	chr22:33836285-33836286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149237173	chr22:33836312-33836313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537529037	chr22:33836331-33836332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553286666	chr22:33836369-33836370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565017866	chr22:33836374-33836375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557096206	chr22:33836393-33836394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369228056	chr22:33836423-33836424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370947741	chr22:33836430-33836431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187223613	chr22:33836508-33836509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191677257	chr22:33836550-33836551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2413185	chr22:33836576-33836577	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs144429970	chr22:33836658-33836659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139234664	chr22:33836661-33836662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529781158	chr22:33836676-33836677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543477452	chr22:33836767-33836768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2413186	chr22:33836791-33836792	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs183779561	chr22:33836947-33836948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552601040	chr22:33836948-33836949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369666262	chr22:33836973-33836974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528777666	chr22:33836992-33836993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142443041	chr22:33836995-33836996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189020917	chr22:33836996-33836997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113384851	chr22:33837008-33837009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35976426	chr22:33837057-33837058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11461610	chr22:33837058-33837059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530695978	chr22:33837074-33837075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs398036948	chr22:33837077-33837078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112191594	chr22:33837108-33837109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563943577	chr22:33837115-33837116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113532410	chr22:33837130-33837131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549356876	chr22:33837158-33837159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570760486	chr22:33837198-33837199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112990834	chr22:33837232-33837233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139898572	chr22:33837248-33837249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12168369	chr22:33837279-33837280	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs139189141	chr22:33837280-33837281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540907548	chr22:33837305-33837306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554365843	chr22:33837312-33837313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574540968	chr22:33837321-33837322	Weak transcription Enhancers	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

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	chr22:33832800-33839200	Weak transcription	Right Ventricle	heart
16	chr22:33833800-33848200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr22:33834000-33838000	Weak transcription	Fetal Heart	heart
18	chr22:33834200-33839400	Weak transcription	Lung	lung
19	chr22:33834200-33848200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr22:33834200-33848400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr22:33834400-33836600	Weak transcription	Fetal Stomach	stomach
22	chr22:33834400-33836800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr22:33834400-33838200	Weak transcription	Esophagus	oesophagus
24	chr22:33834600-33836800	Weak transcription	Gastric	stomach
25	chr22:33834600-33839200	Weak transcription	Left Ventricle	heart
26	chr22:33834600-33839400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr22:33834600-33848200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr22:33834800-33836400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr22:33834800-33836600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr22:33834800-33836800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr22:33834800-33848200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr22:33835000-33836200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr22:33835000-33837800	Weak transcription	A549	lung
34	chr22:33835600-33838200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:33836000-33838200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr22:33836200-33837200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr22:33836400-33837000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr22:33836600-33837000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr22:33836600-33837000	Enhancers	Fetal Lung	lung
40	chr22:33836600-33838000	Enhancers	Fetal Stomach	stomach
41	chr22:33836800-33837000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr22:33836800-33837000	Enhancers	Gastric	stomach
43	chr22:33836800-33837000	Enhancers	Rectal Smooth Muscle	rectum
44	chr22:33836800-33837000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr22:33837000-33838200	Weak transcription	Fetal Lung	lung
46	chr22:33837400-33837800	Enhancers	Ovary	ovary
47	chr22:33837600-33838600	Enhancers	Stomach Mucosa	stomach
48	chr22:33837800-33838000	Enhancers	A549	lung
49	chr22:33837800-33838000	Enhancers	GM12878-XiMat	blood
50	chr22:33837800-33839000	Weak transcription	Ovary	ovary

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