Variant report

Variant	esv3389174
Chromosome Location	chr22:23237616-23264956
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:512)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:23258750-23259076	HepG2	liver:	n/a	n/a
2	ATF1	chr22:23262737-23263489	K562	blood:	n/a	n/a
3	ATF1	chr22:23253446-23253456	K562	blood:	n/a	n/a
4	ATF1	chr22:23254917-23254918	K562	blood:	n/a	n/a
5	ATF1	chr22:23252055-23252437	K562	blood:	n/a	n/a
6	ATF1	chr22:23249632-23250275	K562	blood:	n/a	n/a
7	ATF1	chr22:23246000-23246189	K562	blood:	n/a	n/a
8	ATF1	chr22:23239585-23239595	K562	blood:	n/a	n/a
9	ATF1	chr22:23251232-23251667	K562	blood:	n/a	n/a
10	ATF2	chr22:23241920-23242220	GM12878	blood:	n/a	n/a
11	ATF2	chr22:23248892-23250514	GM12878	blood:	n/a	n/a
12	ATF2	chr22:23245204-23245644	GM12878	blood:	n/a	n/a
13	ATF2	chr22:23248930-23250295	GM12878	blood:	n/a	n/a
14	ATF2	chr22:23243571-23245290	GM12878	blood:	n/a	n/a
15	ATF2	chr22:23243556-23245167	GM12878	blood:	n/a	n/a
16	BACH1	chr22:23259715-23259720	K562	blood:	n/a	n/a
17	BACH1	chr22:23261304-23261342	K562	blood:	n/a	n/a
18	BATF	chr22:23242547-23242788	GM12878	blood:	n/a	n/a
19	BATF	chr22:23243646-23244483	GM12878	blood:	n/a	n/a
20	BATF	chr22:23247193-23247431	GM12878	blood:	n/a	n/a
21	BATF	chr22:23248534-23248947	GM12878	blood:	n/a	n/a
22	BATF	chr22:23242924-23243123	GM12878	blood:	n/a	n/a
23	BATF	chr22:23243142-23243591	GM12878	blood:	n/a	n/a
24	BATF	chr22:23241823-23242071	GM12878	blood:	n/a	n/a
25	BCL11A	chr22:23241808-23242192	GM12878	blood:	n/a	n/a
26	BCL11A	chr22:23247178-23247521	GM12878	blood:	n/a	n/a
27	BCL11A	chr22:23247624-23250417	GM12878	blood:	n/a	chr22:23248333-23248341
28	BCL11A	chr22:23248409-23248799	GM12878	blood:	n/a	n/a
29	BCL11A	chr22:23243053-23243443	GM12878	blood:	n/a	n/a
30	BCL11A	chr22:23242268-23244947	GM12878	blood:	n/a	chr22:23242977-23242985 chr22:23243734-23243743
31	BCL11A	chr22:23243599-23244409	GM12878	blood:	n/a	chr22:23243734-23243743
32	BCL3	chr22:23243550-23244863	GM12878	blood:	n/a	chr22:23243734-23243743
33	BCL3	chr22:23248989-23250139	GM12878	blood:	n/a	n/a
34	BCL3	chr22:23248947-23250094	GM12878	blood:	n/a	n/a
35	BCL3	chr22:23243564-23244867	GM12878	blood:	n/a	chr22:23243734-23243743
36	BCLAF1	chr22:23248885-23250608	GM12878	blood:	n/a	n/a
37	BCLAF1	chr22:23243527-23245345	GM12878	blood:	n/a	chr22:23243734-23243743
38	BCLAF1	chr22:23242891-23243068	GM12878	blood:	n/a	chr22:23242977-23242985
39	BCLAF1	chr22:23241923-23242264	GM12878	blood:	n/a	n/a
40	BCLAF1	chr22:23248919-23250395	GM12878	blood:	n/a	n/a
41	BCLAF1	chr22:23247293-23247606	GM12878	blood:	n/a	n/a
42	BCLAF1	chr22:23242647-23243097	GM12878	blood:	n/a	chr22:23242977-23242985
43	BCLAF1	chr22:23247264-23247668	GM12878	blood:	n/a	n/a
44	BCLAF1	chr22:23241890-23242303	GM12878	blood:	n/a	n/a
45	BCLAF1	chr22:23243562-23245335	GM12878	blood:	n/a	chr22:23243734-23243743
46	BHLHE40	chr22:23263078-23263135	K562	blood:	n/a	n/a
47	BHLHE40	chr22:23258770-23259136	HepG2	liver:	n/a	n/a
48	BHLHE40	chr22:23249132-23249300	GM12878	blood:	n/a	n/a
49	BRCA1	chr22:23244811-23244904	HepG2	liver:	n/a	n/a
50	BRCA1	chr22:23256178-23256216	GM12878	blood:	n/a	n/a

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:23249788..23251920-chr22:23270655..23273406,3	K562	blood:
2	chr22:23234328..23239223-chr22:23249114..23253993,6	K562	blood:
3	chr22:23082377..23083071-chr22:23239318..23240169,2	K562	blood:
4	chr22:23246871..23249530-chr22:23253643..23256082,2	K562	blood:
5	chr22:23245468..23247565-chr22:23249258..23251335,3	K562	blood:
6	chr22:23035302..23036023-chr22:23237968..23238493,2	K562	blood:
7	chr22:23251853..23252558-chr22:23295506..23296354,3	MCF-7	breast:
8	chr22:23261117..23263641-chr22:23264707..23267231,3	K562	blood:
9	chr22:23221267..23223203-chr22:23236416..23239424,3	K562	blood:
10	chr22:23237456..23241868-chr22:23242613..23249057,9	K562	blood:
11	chr22:23237287..23240210-chr22:23254703..23257164,2	K562	blood:
12	chr22:23261117..23263641-chr22:23264707..23267231,3	K562	blood:
13	chr22:23198931..23201053-chr22:23238738..23240324,2	K562	blood:
14	chr22:23236796..23239209-chr22:23258890..23261514,2	K562	blood:
15	chr22:23248970..23251030-chr22:23266059..23268328,2	K562	blood:
16	chr22:23236796..23239209-chr22:23258890..23261514,2	K562	blood:
17	chr22:23237287..23240210-chr22:23254703..23257164,2	K562	blood:
18	chr22:23258107..23260177-chr22:23268082..23270661,2	K562	blood:
19	chr22:23238067..23240289-chr22:23256904..23258643,2	K562	blood:
20	chr22:23234328..23239223-chr22:23249114..23253993,6	K562	blood:
21	chr22:23211318..23214381-chr22:23235118..23238549,3	K562	blood:
22	chr22:23230851..23232657-chr22:23258084..23260097,2	K562	blood:
23	chr22:23249849..23250456-chr22:23284637..23285518,2	K562	blood:
24	chr22:23152432..23153103-chr22:23254207..23254852,2	K562	blood:
25	chr22:23211923..23213773-chr22:23255638..23258101,2	K562	blood:
26	chr22:23249460..23256264-chr22:23263399..23267410,8	K562	blood:
27	chr22:23249460..23256264-chr22:23263399..23267410,8	K562	blood:
28	chr22:23237456..23241868-chr22:23242613..23249057,9	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RTDR1-1	chr22:23248506-23248831	NONHSAT083775
2	lnc-D87017.1-2	chr22:23257805-23258097	NONHSAT083836
3	lnc-RTDR1-4	chr22:23242926-23243073	NONHSAT083834
4	lnc-RTDR1-4	chr22:23243491-23243570	NONHSAT083834
5	lnc-RTDR1-4	chr22:23264861-23264965	NONHSAT083834
6	lnc-D87017.1-3	chr22:23252998-23253245	NONHSAT083835
7	lnc-RTDR1-4	chr22:23243305-23243327	NONHSAT083834
8	lnc-RTDR1-4	chr22:23261700-23261973	NONHSAT083834
9	lnc-RTDR1-4	chr22:23262147-23262154	NONHSAT083834

No data

Variant related genes	Relation type
IGLJ5	TF binding region
IGLC7	TF binding region
IGLJ7	TF binding region
IGLJ6	TF binding region
IGLJ2	TF binding region
IGLJ4	TF binding region
IGLC4	TF binding region
IGLC5	TF binding region
IGLJ3	TF binding region
IGLC3	TF binding region
IGLC6	TF binding region
IGLC2	TF binding region
ENSG00000254030	chromatin interactions
ENSG00000222037	chromatin interactions
ENSG00000211684	chromatin interactions
ENSG00000211685	chromatin interactions
ENSG00000254029	chromatin interactions
ENSG00000211680	chromatin interactions
ENSG00000211676	chromatin interactions
ENSG00000253234	chromatin interactions
ENSG00000223999	chromatin interactions
ENSG00000226420	chromatin interactions
ENSG00000211681	chromatin interactions
ENSG00000211677	chromatin interactions
ENSG00000211679	chromatin interactions
ENSG00000211673	chromatin interactions
ENSG00000211678	chromatin interactions
ENSG00000211672	chromatin interactions
ENSG00000211675	chromatin interactions
ENSG00000211682	chromatin interactions
ENSG00000211674	chromatin interactions

Extended variants
information (count: 1857 )
Associated
traits (count: 216 )

Variant overlapped rSNPs/rCNVs (count:1857 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147164616	chr22:23237616-23237617	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs17850250	chr22:23237619-23237620	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs571956646	chr22:23237629-23237630	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs541074383	chr22:23237631-23237632	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs565895977	chr22:23237637-23237638	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs376737719	chr22:23237640-23237641	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs577481172	chr22:23237641-23237642	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs546456141	chr22:23237643-23237644	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs11558662	chr22:23237648-23237649	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs369208897	chr22:23237657-23237658	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs532070444	chr22:23237658-23237659	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs372378544	chr22:23237664-23237665	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs377135492	chr22:23237669-23237670	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs199533661	chr22:23237674-23237675	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs373828711	chr22:23237689-23237690	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs148650930	chr22:23237697-23237698	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs376992217	chr22:23237703-23237704	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs192388840	chr22:23237705-23237706	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs372524996	chr22:23237712-23237713	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs532939005	chr22:23237714-23237715	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs375956521	chr22:23237717-23237718	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs549610235	chr22:23237719-23237720	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs569843724	chr22:23237723-23237724	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs535701345	chr22:23237724-23237725	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs555378079	chr22:23237728-23237729	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs370560112	chr22:23237736-23237737	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs200591615	chr22:23237737-23237738	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs377386521	chr22:23237745-23237746	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs375428879	chr22:23237748-23237749	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs61731678	chr22:23237751-23237752	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs201956362	chr22:23237752-23237753	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs375027597	chr22:23237755-23237756	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs367960872	chr22:23237760-23237761	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs200058211	chr22:23237761-23237762	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs376897025	chr22:23237766-23237767	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs368219996	chr22:23237771-23237772	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs201375434	chr22:23237777-23237778	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs369300114	chr22:23237781-23237782	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs371694135	chr22:23237782-23237783	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs546419162	chr22:23237784-23237785	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs147661812	chr22:23237792-23237793	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs199957800	chr22:23237798-23237799	Enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs11558639	chr22:23237804-23237805	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs376561312	chr22:23237812-23237813	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs200920901	chr22:23237816-23237817	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs373153500	chr22:23237822-23237823	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs377494302	chr22:23237826-23237827	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs371408190	chr22:23237838-23237839	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs374765048	chr22:23237845-23237846	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs562190369	chr22:23237850-23237851	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:216)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
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
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cat eye syndrome	21549014	CNVD
Digeorge syndrome	21549014	CNVD
22q11.2 microdeletion syndrome	22051516	CNVD
22q11.2 microdeletion syndrome	18483005	CNVD
22q11.2 microdeletion syndrome	19565140	CNVD
22q11.2 microdeletion syndrome	20396437	CNVD
22q11.2 microdeletion syndrome	21390462	CNVD
22q11.2 microdeletion syndrome	21573985	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Congenital heart defect	21257016	CNVD
Developmental delay	18414209	CNVD
DiGeorge-Velo cardiofacial	19284877	CNVD
Epilepsy	20970697	CNVD
Heart disease	20551144	CNVD
Hughes'' syndrome	16595601	CNVD
Mental retardation	18414209	CNVD
Okamoto syndrome	19046188	CNVD
Primary immunodeficiency	22566803	CNVD
Schizophrenia	20877625	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Tetralogy of Fallot	22912587	CNVD
Velocardiofacial syndrome	17556857	CNVD
Velocardiofacial syndrome	20206275	CNVD
Velocardiofacial syndrome	20970697	CNVD
delayed speech development	21274400	CNVD
velo-cardio-facial syndrome	16511839	CNVD
velo-cardio-facial syndrome	21763005	CNVD
22q11.2 microdeletion syndrome	18799940	CNVD
Digeorge syndrome	20877625	CNVD
22q11.2 microdeletion syndrome	18923514	CNVD
Congenital heart defect	22185286	CNVD
DiGeorge-Velo cardiofacial	16773131	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
22q11.2 microdeletion syndrome	22116936	CNVD
Disorders of sex development	22290220	CNVD
22q11.2 duplication syndrome	18923514	CNVD
Autism	22095694	CNVD
Mental retardation	19951919	CNVD
Honadal dysgenesis	21048976	CNVD
Mental retardation	16773131	CNVD
22q11.2 microdeletion syndrome	22395003	CNVD
22q11.2 microdeletion syndrome	18691436	CNVD
22q11.2 microdeletion syndrome	18053182	CNVD
22q11.2 microdeletion syndrome	18324686	CNVD
22q11.2 microdeletion syndrome	20074913	CNVD
Congenital heart defect	20802965	CNVD
Congenital heart defect	21134246	CNVD
DiGeorge syndrome	19040613	CNVD
DiGeorge-Velo cardiofacial	18179902	CNVD
Digeorge syndrome	18172682	CNVD
Digeorge syndrome	22470819	CNVD
Digeorge syndrome	21364285	CNVD
Neuroendocrine carcinoma	22470819	CNVD
Non-syndromic sensorineural hearing loss	20069674	CNVD
Smith-Magenis syndrome	18301319	CNVD
Tetralogy of fallot	19144126	CNVD
Velo-cardio-facial syndrome	21364285	CNVD
Velocardiofacial syndrome	18788013	CNVD
cardiac malformation	20573211	CNVD
cardiac malformation	18172682	CNVD
velo-cardio-facial syndrome	18636631	CNVD
Schizophrenia	21822266	CNVD
synaptic plasticity	21368174	CNVD
Schizophrenia	18043741	CNVD
sporadic birth defects	19047251	CNVD
Autism	19046189	CNVD
DiGeorge-Velo cardiofacial	19047251	CNVD
Hypernasal speech	21968682	CNVD
Mental retardation	17339581	CNVD
diverse phenotype	16760730	CNVD
Mental retardation	20152051	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Neuropsychiatric disorder	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Disease	21346257	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Asthma	21956041	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	21128281	CNVD
Systemic lupus erythematosus	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
22q11.23 microdeletion syndrome	19193630	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	20841430	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	17989066	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23234800-23239200	Enhancers	Dnd41	blood
2	chr22:23234800-23239800	Strong transcription	Right Atrium	heart
3	chr22:23235200-23237800	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
4	chr22:23236800-23237800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
5	chr22:23237600-23241800	Enhancers	Primary B cells from cord blood	blood
6	chr22:23237800-23239600	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr22:23237800-23245600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr22:23238800-23241200	Enhancers	HSMM	muscle
9	chr22:23239000-23240600	Enhancers	HSMMtube	muscle
10	chr22:23239000-23241200	Enhancers	Fetal Muscle Leg	muscle
11	chr22:23239200-23239600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr22:23239200-23240400	Weak transcription	Dnd41	blood
13	chr22:23239600-23240600	Enhancers	Fetal Muscle Trunk	muscle
14	chr22:23239600-23241400	Enhancers	Primary B cells from peripheral blood	blood
15	chr22:23239800-23240000	Enhancers	Duodenum Mucosa	Duodenum
16	chr22:23239800-23243800	Weak transcription	Right Atrium	heart
17	chr22:23240400-23241200	Enhancers	Dnd41	blood
18	chr22:23240600-23243600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr22:23240600-23243800	Weak transcription	HSMMtube	muscle
20	chr22:23241200-23243600	Weak transcription	Fetal Muscle Leg	muscle
21	chr22:23241200-23243800	Weak transcription	Dnd41	blood
22	chr22:23241200-23244600	Weak transcription	HSMM	muscle
23	chr22:23241400-23242200	Genic enhancers	Primary B cells from peripheral blood	blood
24	chr22:23241800-23242200	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr22:23241800-23243800	Active TSS	GM12878-XiMat	blood
26	chr22:23242000-23242200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr22:23242200-23242600	Enhancers	Primary B cells from peripheral blood	blood
28	chr22:23242200-23243600	Weak transcription	Primary B cells from cord blood	blood
29	chr22:23242600-23243000	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr22:23243000-23243200	Enhancers	Primary B cells from peripheral blood	blood
31	chr22:23243200-23243600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr22:23243600-23243800	Enhancers	Fetal Muscle Trunk	muscle
33	chr22:23243600-23243800	Enhancers	Fetal Muscle Leg	muscle
34	chr22:23243600-23244600	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
35	chr22:23243600-23244800	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
36	chr22:23243800-23244200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
37	chr22:23243800-23245000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr22:23243800-23245000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
39	chr22:23243800-23245800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr22:23243800-23245800	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr22:23243800-23246000	Enhancers	HSMMtube	muscle
42	chr22:23243800-23247400	Strong transcription	Right Atrium	heart
43	chr22:23243800-23247600	Enhancers	Dnd41	blood
44	chr22:23244000-23245000	Bivalent Enhancer	Small Intestine	intestine
45	chr22:23244000-23245000	Enhancers	Stomach Smooth Muscle	stomach
46	chr22:23244200-23244400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr22:23244200-23244400	Bivalent Enhancer	Fetal Lung	lung
48	chr22:23244200-23244600	Flanking Active TSS	GM12878-XiMat	blood
49	chr22:23244200-23245200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr22:23244400-23246000	Enhancers	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links