Variant report

Variant	nsv1059522
Chromosome Location	chr22:33706201-33728482
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	chr22:33724973-33725009	HepG2	liver:	n/a	n/a
2	ATF2	chr22:33717225-33717843	GM12878	blood:	n/a	n/a
3	ATF2	chr22:33721498-33721970	GM12878	blood:	n/a	n/a
4	ATF2	chr22:33721584-33722079	GM12878	blood:	n/a	n/a
5	BATF	chr22:33721485-33721940	GM12878	blood:	n/a	n/a
6	BATF	chr22:33724724-33725271	GM12878	blood:	n/a	n/a
7	BATF	chr22:33717302-33717798	GM12878	blood:	n/a	n/a
8	BCL11A	chr22:33721512-33721964	GM12878	blood:	n/a	n/a
9	BCL3	chr22:33717154-33717858	GM12878	blood:	n/a	n/a
10	BCLAF1	chr22:33721367-33722046	GM12878	blood:	n/a	n/a
11	BHLHE40	chr22:33721574-33721946	GM12878	blood:	n/a	n/a
12	BHLHE40	chr22:33723110-33723125	K562	blood:	n/a	n/a
13	BRCA1	chr22:33721530-33721730	GM12878	blood:	n/a	n/a
14	CEBPB	chr22:33719214-33719497	A549	lung:	n/a	n/a
15	CEBPB	chr22:33708301-33708501	HepG2	liver:	n/a	chr22:33708376-33708387
16	CEBPB	chr22:33719232-33719513	HepG2	liver:	n/a	n/a
17	CEBPB	chr22:33708384-33708412	K562	blood:	n/a	n/a
18	CEBPB	chr22:33720599-33720846	HepG2	liver:	n/a	n/a
19	CTCF	chr22:33722100-33722250	GM12873	blood:	n/a	n/a
20	CTCF	chr22:33720135-33720157	Lung_OC	lung:	n/a	n/a
21	CTCF	chr22:33721485-33721708	GM12878	blood:	n/a	chr22:33721557-33721565
22	CTCF	chr22:33725020-33725170	RPTEC	kidney:	n/a	n/a
23	CTCF	chr22:33725060-33725210	RPTEC	kidney:	n/a	n/a
24	CTCF	chr22:33723940-33724090	AG10803	skin:	n/a	n/a
25	CUX1	chr22:33721473-33721842	GM12878	blood:	n/a	n/a
26	EBF1	chr22:33721494-33721943	GM12878	blood:	n/a	n/a
27	EBF1	chr22:33721606-33722018	GM12878	blood:	n/a	n/a
28	EBF1	chr22:33717220-33717798	GM12878	blood:	n/a	chr22:33717377-33717388
29	EBF1	chr22:33717120-33717832	GM12878	blood:	n/a	chr22:33717377-33717388
30	EBF1	chr22:33717527-33717832	GM12878	blood:	n/a	n/a
31	EGR1	chr22:33717503-33717793	GM12878	blood:	n/a	chr22:33717642-33717652 chr22:33717641-33717655 chr22:33717640-33717653 chr22:33717642-33717651 chr22:33717642-33717652 chr22:33717641-33717652 chr22:33717643-33717652 chr22:33717639-33717654 chr22:33717641-33717652 chr22:33717640-33717653 chr22:33717640-33717654
32	EGR1	chr22:33717507-33717738	GM12878	blood:	n/a	chr22:33717642-33717652 chr22:33717641-33717655 chr22:33717640-33717653 chr22:33717642-33717651 chr22:33717642-33717652 chr22:33717641-33717652 chr22:33717643-33717652 chr22:33717639-33717654 chr22:33717641-33717652 chr22:33717640-33717653 chr22:33717640-33717654
33	ELK1	chr22:33721604-33721770	GM12878	blood:	n/a	n/a
34	EP300	chr22:33721543-33722024	GM12878	blood:	n/a	n/a
35	EP300	chr22:33725003-33725097	HepG2	liver:	n/a	n/a
36	EP300	chr22:33721565-33722045	GM12878	blood:	n/a	n/a
37	EP300	chr22:33717260-33717732	GM12878	blood:	n/a	n/a
38	EP300	chr22:33724719-33725870	A549	lung:	n/a	chr22:33724959-33724973 chr22:33725688-33725698
39	FOS	chr22:33710391-33710562	MCF10A-Er-Src	breast:	n/a	n/a
40	FOSL2	chr22:33724631-33725340	A549	lung:	n/a	n/a
41	FOSL2	chr22:33724786-33725074	A549	lung:	n/a	n/a
42	FOXA1	chr22:33721347-33721669	T-47D	breast:	n/a	n/a
43	FOXA2	chr22:33725307-33725794	A549	lung:	n/a	chr22:33725685-33725697
44	FOXA2	chr22:33725431-33725679	HepG2	liver:	n/a	n/a
45	FOXM1	chr22:33717162-33717875	GM12878	blood:	n/a	n/a
46	FOXM1	chr22:33721496-33722015	GM12878	blood:	n/a	n/a
47	GATA2	chr22:33720394-33720666	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr22:33724638-33725915	A549	lung:	n/a	chr22:33725108-33725119 chr22:33725492-33725508 chr22:33725561-33725571 chr22:33725494-33725506
49	HDAC2	chr22:33721256-33721714	MCF-7	breast:	n/a	n/a
50	IKZF1	chr22:33724785-33725098	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33711253..33713624-chr22:33778569..33781102,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TIMP3-5	chr22:33716851-33717025	ENSG00000230741.1
2	lnc-TIMP3-5	chr22:33718491-33718799	ENSG00000230741.1

Variant related genes	Relation type
ENSG00000230741	TF binding region
ENSG00000133424	chromatin interactions

Extended variants
information (count: 1010 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1010 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8138572	chr22:33706201-33706202	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538580122	chr22:33706206-33706207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544809635	chr22:33706220-33706221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs8138713	chr22:33706282-33706283	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541371563	chr22:33706288-33706289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187494107	chr22:33706336-33706337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs5998867	chr22:33706350-33706351	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs76101692	chr22:33706365-33706366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141952641	chr22:33706368-33706369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532503473	chr22:33706422-33706423	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs8142947	chr22:33706478-33706479	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559828150	chr22:33706493-33706494	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527583354	chr22:33706507-33706508	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs58096237	chr22:33706530-33706531	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs61603549	chr22:33706534-33706535	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs529866694	chr22:33706535-33706536	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549710741	chr22:33706539-33706540	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554934031	chr22:33706542-33706543	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569690437	chr22:33706543-33706544	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111875911	chr22:33706549-33706550	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76398323	chr22:33706550-33706551	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542987698	chr22:33706578-33706579	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551751597	chr22:33706597-33706598	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565364240	chr22:33706612-33706613	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534977917	chr22:33706613-33706614	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79532330	chr22:33706622-33706623	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145882470	chr22:33706661-33706662	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373570252	chr22:33706663-33706664	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557286384	chr22:33706664-33706665	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577250741	chr22:33706677-33706678	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546007072	chr22:33706702-33706703	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528553511	chr22:33706735-33706736	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs58468064	chr22:33706744-33706745	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573312362	chr22:33706751-33706752	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs193277495	chr22:33706778-33706779	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561142146	chr22:33706791-33706792	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs55694975	chr22:33706824-33706825	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs549934567	chr22:33706863-33706864	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563367251	chr22:33706883-33706884	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571420285	chr22:33706890-33706891	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532231658	chr22:33706897-33706898	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73166244	chr22:33706945-33706946	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs150341478	chr22:33706956-33706957	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113255126	chr22:33706967-33706968	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142693941	chr22:33706968-33706969	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs60645449	chr22:33706981-33706982	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs61517662	chr22:33706985-33706986	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs373552292	chr22:33707009-33707010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142721205	chr22:33707010-33707011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577408709	chr22:33707032-33707033	Weak transcription Strong transcription	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	18451855	CNVD

Chromatin state (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33660000-33722800	Weak transcription	HSMMtube	muscle
2	chr22:33666800-33713600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr22:33667600-33724800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr22:33668400-33712200	Weak transcription	Esophagus	oesophagus
5	chr22:33668800-33720400	Weak transcription	Psoas Muscle	Psoas
6	chr22:33672600-33711800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr22:33673200-33709600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr22:33673200-33710000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr22:33673400-33726400	Weak transcription	Colonic Mucosa	Colon
10	chr22:33673400-33735000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr22:33676600-33745000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr22:33677600-33709600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr22:33679200-33709600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr22:33679400-33709800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr22:33679400-33713800	Weak transcription	Brain Germinal Matrix	brain
16	chr22:33679400-33733200	Weak transcription	Fetal Brain Female	brain
17	chr22:33679400-33743800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr22:33687000-33709600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr22:33690200-33718400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:33692600-33711200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr22:33693000-33710400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr22:33696200-33709200	Weak transcription	Pancreas	Pancrea
23	chr22:33696200-33725000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr22:33696200-33748000	Weak transcription	Fetal Lung	lung
25	chr22:33696400-33725000	Weak transcription	Stomach Mucosa	stomach
26	chr22:33696600-33721600	Weak transcription	Fetal Kidney	kidney
27	chr22:33698400-33718400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr22:33698600-33709800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:33698600-33736400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr22:33698800-33710000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr22:33698800-33719800	Weak transcription	HepG2	liver
32	chr22:33699000-33709600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr22:33699000-33709600	Weak transcription	Spleen	Spleen
34	chr22:33699000-33709800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr22:33699000-33709800	Weak transcription	Fetal Muscle Leg	muscle
36	chr22:33699000-33710000	Weak transcription	Adipose Nuclei	Adipose
37	chr22:33699000-33710400	Weak transcription	Colon Smooth Muscle	Colon
38	chr22:33699000-33711400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr22:33699200-33713800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr22:33699400-33709600	Weak transcription	Brain Anterior Caudate	brain
41	chr22:33699400-33709600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr22:33699400-33709800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr22:33699400-33714400	Weak transcription	Brain Substantia Nigra	brain
44	chr22:33699400-33722800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr22:33699400-33731800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr22:33699600-33708600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr22:33699600-33709000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr22:33699600-33709600	Weak transcription	Brain Angular Gyrus	brain
49	chr22:33700000-33713200	Weak transcription	GM12878-XiMat	blood
50	chr22:33700400-33707400	Weak transcription	Stomach Smooth Muscle	stomach

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