Variant report

Variant	nsv535972
Chromosome Location	chr2:148730825-148934986
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1742)
CpG islands
(count:1099)
Chromatin interactive
region (count:89)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1742 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:148747414-148747709	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:148888294-148888308	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:148780420-148780619	K562	blood:	n/a	n/a
4	ARID3A	chr2:148747394-148747852	K562	blood:	n/a	n/a
5	ARID3A	chr2:148776453-148776679	K562	blood:	n/a	n/a
6	ARID3A	chr2:148920439-148920729	K562	blood:	n/a	n/a
7	ARID3A	chr2:148778946-148779315	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:148756715-148756858	K562	blood:	n/a	n/a
9	ARID3A	chr2:148779891-148780131	K562	blood:	n/a	n/a
10	ARID3A	chr2:148777693-148778271	K562	blood:	n/a	n/a
11	ARID3A	chr2:148777639-148778741	HepG2	liver:	n/a	n/a
12	ARID3A	chr2:148810230-148810584	HepG2	liver:	n/a	n/a
13	ATF1	chr2:148778210-148778730	K562	blood:	n/a	n/a
14	ATF2	chr2:148799549-148800235	GM12878	blood:	n/a	n/a
15	ATF2	chr2:148777599-148779168	GM12878	blood:	n/a	n/a
16	ATF2	chr2:148805766-148807114	GM12878	blood:	n/a	n/a
17	ATF2	chr2:148778167-148779037	GM12878	blood:	n/a	n/a
18	ATF2	chr2:148799610-148800244	GM12878	blood:	n/a	n/a
19	ATF2	chr2:148805695-148807140	GM12878	blood:	n/a	n/a
20	ATF2	chr2:148777775-148778557	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF3	chr2:148778167-148778529	HepG2	liver:	n/a	chr2:148778471-148778480
22	ATF3	chr2:148777950-148778529	GM12878	blood:	n/a	chr2:148778471-148778480
23	BATF	chr2:148789167-148789394	GM12878	blood:	n/a	n/a
24	BATF	chr2:148806259-148806907	GM12878	blood:	n/a	chr2:148806614-148806625
25	BATF	chr2:148806449-148806848	GM12878	blood:	n/a	chr2:148806614-148806625
26	BATF	chr2:148880380-148880646	GM12878	blood:	n/a	chr2:148880539-148880550
27	BATF	chr2:148803827-148804138	GM12878	blood:	n/a	n/a
28	BATF	chr2:148799707-148800070	GM12878	blood:	n/a	chr2:148799907-148799918
29	BATF	chr2:148803918-148804156	GM12878	blood:	n/a	n/a
30	BATF	chr2:148799772-148800076	GM12878	blood:	n/a	chr2:148799907-148799918
31	BCL11A	chr2:148799845-148800073	GM12878	blood:	n/a	chr2:148800002-148800011
32	BCL11A	chr2:148806525-148806767	GM12878	blood:	n/a	n/a
33	BCL11A	chr2:148806110-148806885	GM12878	blood:	n/a	n/a
34	BCL11A	chr2:148799776-148800128	GM12878	blood:	n/a	chr2:148800002-148800011
35	BCL3	chr2:148805871-148806863	GM12878	blood:	n/a	n/a
36	BCL3	chr2:148799732-148800218	GM12878	blood:	n/a	chr2:148800002-148800011
37	BCL3	chr2:148778097-148778782	A549	lung:	n/a	chr2:148778394-148778403
38	BCLAF1	chr2:148799725-148800084	GM12878	blood:	n/a	chr2:148800002-148800011
39	BCLAF1	chr2:148805628-148807044	GM12878	blood:	n/a	n/a
40	BCLAF1	chr2:148799581-148800151	GM12878	blood:	n/a	chr2:148800002-148800011
41	BCLAF1	chr2:148747364-148747810	GM12878	blood:	n/a	n/a
42	BCLAF1	chr2:148806074-148806967	GM12878	blood:	n/a	n/a
43	BCLAF1	chr2:148777882-148779142	GM12878	blood:	n/a	chr2:148778394-148778403
44	BCLAF1	chr2:148777838-148778752	GM12878	blood:	n/a	chr2:148778394-148778403
45	BCLAF1	chr2:148778798-148779291	GM12878	blood:	n/a	n/a
46	BHLHE40	chr2:148805899-148807141	GM12878	blood:	n/a	n/a
47	BHLHE40	chr2:148777625-148779009	HepG2	liver:	n/a	n/a
48	BHLHE40	chr2:148783631-148783811	K562	blood:	n/a	n/a
49	BHLHE40	chr2:148778002-148779344	GM12878	blood:	n/a	n/a
50	BHLHE40	chr2:148747431-148747876	GM12878	blood:	n/a	n/a

(count:1099 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:148778181-148778231	ovcar-3	ovarian:	n/a
2	chr2:148778181-148778231	ovcar-3	ovarian:	n/a
3	chr2:148779335-148779385	AG09309	skin:	n/a
4	chr2:148815999-148816049	HCM	heart:	n/a
5	chr2:148758708-148758758	BE2_C	brain:	n/a
6	chr2:148779348-148779398	K562	blood:	n/a
7	chr2:148839265-148839315	Hela-S3	cervix:	n/a
8	chr2:148839265-148839315	NT2-D1	testis:	n/a
9	chr2:148778969-148779019	GM12878	blood:	n/a
10	chr2:148778288-148778338	IMR90	lung:	fetal
11	chr2:148779564-148779614	GM12891	blood:	n/a
12	chr2:148779335-148779385	HCM	heart:	n/a
13	chr2:148778969-148779019	LNCaP	prostate:	n/a
14	chr2:148839265-148839315	HEEpiC	esophagus:	n/a
15	chr2:148732064-148732114	Caco-2	colon:	n/a
16	chr2:148779335-148779385	BE2_C	brain:	n/a
17	chr2:148778495-148778545	HEEpiC	esophagus:	n/a
18	chr2:148779307-148779357	AG09309	skin:	n/a
19	chr2:148839265-148839315	Caco-2	colon:	n/a
20	chr2:148815999-148816049	Jurkat	blood:	n/a
21	chr2:148778969-148779019	AG10803	skin:	n/a
22	chr2:148778288-148778338	MCF10A-Er-Src	breast:	n/a
23	chr2:148779335-148779385	GM12891	blood:	n/a
24	chr2:148778288-148778338	NHDF-neo	bronchial:	n/a
25	chr2:148747824-148747874	AG04450	lung:	fetal
26	chr2:148778181-148778231	SAEC	small airway:	n/a
27	chr2:148815999-148816049	Hepatocyte	liver:	n/a
28	chr2:148779335-148779385	U87	brain:	n/a
29	chr2:148893152-148893202	MCF-7	breast:	n/a
30	chr2:148893152-148893202	IMR90	lung:	fetal
31	chr2:148779335-148779385	HMEC	breast:	n/a
32	chr2:148779348-148779398	PrEC	prostate:	n/a
33	chr2:148758708-148758758	AoSMC	blood vessel:	n/a
34	chr2:148778495-148778545	GM19239	blood:	n/a
35	chr2:148779335-148779385	PANC-1	pancreas:	n/a
36	chr2:148758708-148758758	Hepatocyte	liver:	n/a
37	chr2:148839265-148839315	LNCaP	prostate:	n/a
38	chr2:148782427-148782477	HIPEpiC	eye:	n/a
39	chr2:148782427-148782477	NHDF-neo	bronchial:	n/a
40	chr2:148758708-148758758	AG04450	lung:	fetal
41	chr2:148779564-148779614	T-47D	breast:	n/a
42	chr2:148779307-148779357	HCM	heart:	n/a
43	chr2:148758708-148758758	PANC-1	pancreas:	n/a
44	chr2:148778288-148778338	HRPEpiC	eye:	n/a
45	chr2:148778969-148779019	PFSK-1	brain:	n/a
46	chr2:148815999-148816049	SAEC	small airway:	n/a
47	chr2:148779564-148779614	AG04450	lung:	fetal
48	chr2:148815999-148816049	CMK	blood:	n/a
49	chr2:148732064-148732114	GM12878	blood:	n/a
50	chr2:148815999-148816049	GM12891	blood:	n/a

(count:89 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:148793989..148796591-chr2:148815417..148817298,2	K562	blood:
2	chr2:148888593..148891096-chr2:148894086..148896797,2	K562	blood:
3	chr2:148784396..148788846-chr2:148789085..148797042,12	K562	blood:
4	chr2:148831814..148833866-chr2:148838337..148840088,2	K562	blood:
5	chr2:148782652..148784833-chr2:148785431..148787188,2	MCF-7	breast:
6	chr2:148801242..148804386-chr2:148805992..148808157,4	K562	blood:
7	chr2:148765021..148767403-chr2:148770633..148772597,2	K562	blood:
8	chr2:148801242..148804386-chr2:148805992..148808157,4	K562	blood:
9	chr2:148732231..148734888-chr2:148736487..148738854,2	K562	blood:
10	chr2:148790035..148791910-chr2:148820838..148823392,2	K562	blood:
11	chr2:148777400..148781221-chr2:148785788..148788815,4	MCF-7	breast:
12	chr2:148859675..148863197-chr2:148868107..148869963,3	MCF-7	breast:
13	chr2:148747289..148748018-chr2:149266484..149267635,9	MCF-7	breast:
14	chr2:148801657..148804409-chr2:148807658..148809416,2	MCF-7	breast:
15	chr2:148781884..148783998-chr2:148786718..148789864,3	K562	blood:
16	chr2:148778014..148780334-chr2:148791954..148794463,2	K562	blood:
17	chr2:148884069..148886701-chr2:148890123..148892046,2	MCF-7	breast:
18	chr2:148862754..148865628-chr2:148893706..148895344,2	K562	blood:
19	chr2:148795246..148798191-chr2:148802393..148803915,2	K562	blood:
20	chr1:145382244..145383020-chr2:148777927..148778778,2	HCT-116	colon:
21	chr2:148747393..148748097-chr2:149846190..149846982,2	MCF-7	breast:
22	chr2:148747178..148748066-chr2:148853587..148854325,3	MCF-7	breast:
23	chr2:148794522..148796703-chr2:148799769..148801375,2	K562	blood:
24	chr2:148732231..148734888-chr2:148736487..148738854,2	K562	blood:
25	chr2:148790987..148792533-chr2:148818638..148820263,2	K562	blood:
26	chr2:148857706..148860074-chr2:148877712..148879777,2	K562	blood:
27	chr2:148766857..148769068-chr2:148777403..148779388,2	K562	blood:
28	chr2:148795246..148798191-chr2:148802393..148803915,2	K562	blood:
29	chr2:148839523..148841211-chr2:148842127..148844445,2	K562	blood:
30	chr14:31090963..31091593-chr2:148777702..148778439,2	Hela-S3	cervix:
31	chr2:148736461..148738004-chr2:148741042..148743532,2	K562	blood:
32	chr2:148839523..148841211-chr2:148842127..148844445,2	K562	blood:
33	chr2:148784396..148788846-chr2:148789085..148797042,12	K562	blood:
34	chr2:148859675..148863197-chr2:148868107..148869963,3	MCF-7	breast:
35	chr2:148892318..148894319-chr2:148896559..148898244,2	MCF-7	breast:
36	chr2:148747086..148748063-chr2:149266705..149267668,7	MCF-7	breast:
37	chr2:148755309..148758512-chr2:148776445..148778931,3	MCF-7	breast:
38	chr2:148818705..148820589-chr2:148824017..148825657,2	MCF-7	breast:
39	chr2:148857706..148860074-chr2:148877712..148879777,2	K562	blood:
40	chr2:148831814..148833866-chr2:148838337..148840088,2	K562	blood:
41	chr2:148777800..148778420-chr6:32821048..32821837,2	NB4	blood:
42	chr2:148796353..148798191-chr2:148802415..148804582,2	K562	blood:
43	chr2:148773879..148776006-chr2:148779968..148781591,2	MCF-7	breast:
44	chr2:148778374..148778927-chr5:41925178..41925893,2	Hela-S3	cervix:
45	chr2:148747445..148748127-chr2:149846144..149846862,2	K562	blood:
46	chr2:148931889..148933794-chr2:148936353..148939104,2	K562	blood:
47	chr2:148784529..148787318-chr2:148787850..148789462,2	MCF-7	breast:
48	chr2:148736461..148738004-chr2:148741042..148743532,2	K562	blood:
49	chr2:148811506..148813577-chr2:148817603..148819976,2	K562	blood:
50	chr2:148765218..148768390-chr2:148776521..148778728,3	MCF-7	breast:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MMADHC-10	chr2:148733471-148733544	NONHSAT074870
2	lnc-MBD5-1	chr2:148811960-148812018	NONHSAT074874
3	lnc-MMADHC-10	chr2:148731017-148731093	NONHSAT074870
4	lnc-MBD5-1	chr2:148779033-148779253	NONHSAT074875
5	lnc-MBD5-1	chr2:148781621-148781743	NONHSAT074877
6	lnc-MBD5-1	chr2:148826141-148826162	NONHSAT074878
7	lnc-MMADHC-10	chr2:148778202-148778295	NONHSAT074870
8	lnc-MBD5-1	chr2:148778596-148778615	NONHSAT074872
9	lnc-MBD5-1	chr2:148779008-148779253	NONHSAT074874
10	lnc-MBD5-1	chr2:148798775-148798934	NONHSAT074876
11	lnc-MBD5-1	chr2:148779162-148779253	NONHSAT074876
12	lnc-MBD5-1	chr2:148778580-148778615	NONHSAT074871
13	lnc-MBD5-1	chr2:148778807-148779253	NONHSAT074873
14	lnc-MBD5-1	chr2:148782535-148782627	NONHSAT074873
15	lnc-MBD5-1	chr2:148782535-148782771	NONHSAT074877

No data

Variant related genes	Relation type
ORC4	TF binding region
MBD5	TF binding region
ORC4	CpG island
MBD5	CpG island
ENSG00000151876	chromatin interactions
ENSG00000168394	chromatin interactions
ENSG00000135999	chromatin interactions
ENSG00000092108	chromatin interactions
ENSG00000115947	chromatin interactions
ENSG00000204406	chromatin interactions
ENSG00000164967	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000233396	chromatin interactions

Extended variants
information (count: 6885 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:6885 , 50 per page) page: 1 2 3 4 5 6 7 ... 138

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140142667	chr2:148730832-148730833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553385650	chr2:148730874-148730875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578224579	chr2:148730890-148730891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145356009	chr2:148730891-148730892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201527456	chr2:148730905-148730906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117350658	chr2:148730906-148730907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145215830	chr2:148730957-148730958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542680217	chr2:148730963-148730964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561058218	chr2:148730965-148730966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188472537	chr2:148730981-148730982	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs369258886	chr2:148731016-148731017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540467527	chr2:148731020-148731021	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs372594508	chr2:148731023-148731024	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs377026372	chr2:148731033-148731034	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs370056073	chr2:148731056-148731057	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs565023604	chr2:148731063-148731064	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs532473139	chr2:148731125-148731126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577004089	chr2:148731195-148731196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182362732	chr2:148731219-148731220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540847831	chr2:148731224-148731225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1378081	chr2:148731252-148731253	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs17225381	chr2:148731253-148731254	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs3835751	chr2:148731255-148731256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11452707	chr2:148731261-148731262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114668372	chr2:148731331-148731332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566615309	chr2:148731335-148731336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528665855	chr2:148731336-148731337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547204755	chr2:148731364-148731365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571824293	chr2:148731392-148731393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539293882	chr2:148731395-148731396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557248716	chr2:148731425-148731426	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568874708	chr2:148731442-148731443	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536252593	chr2:148731571-148731572	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554641739	chr2:148731594-148731595	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569046073	chr2:148731614-148731615	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573328115	chr2:148731618-148731619	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540040124	chr2:148731646-148731647	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113996240	chr2:148731655-148731656	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181622874	chr2:148731672-148731673	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369266884	chr2:148731674-148731675	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544476956	chr2:148731712-148731713	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562774341	chr2:148731713-148731714	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373243924	chr2:148731818-148731819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529709401	chr2:148731825-148731826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2627025	chr2:148731859-148731860	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs559972833	chr2:148731893-148731894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560968046	chr2:148731938-148731939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2627026	chr2:148731941-148731942	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs12469015	chr2:148731950-148731951	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs532579295	chr2:148731954-148731955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	19904302	CNVD
Intellectual disability	19904302	CNVD
Microcephaly	19904302	CNVD
severe speech impairment	19904302	CNVD
Mental retardation	20152051	CNVD
2q23.1 microdeletion syndrome	18812405	CNVD
Mental retardation	19809484	CNVD
Autism	21981781	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Mental retardation	17847001	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Autism	20531469	CNVD

Chromatin state (count:2392 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148637200-148752600	Weak transcription	Small Intestine	intestine
2	chr2:148658800-148741600	Weak transcription	Aorta	Aorta
3	chr2:148679600-148737200	Weak transcription	Hela-S3	cervix
4	chr2:148691000-148734600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:148694000-148731400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:148694200-148777400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:148694400-148738400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:148694400-148741000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:148694400-148741200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:148694600-148731600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:148695000-148746800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:148698000-148734000	Weak transcription	Brain Angular Gyrus	brain
13	chr2:148707600-148732200	Weak transcription	Stomach Mucosa	stomach
14	chr2:148709000-148738400	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:148709200-148737800	Weak transcription	Fetal Brain Male	brain
16	chr2:148709200-148747600	Weak transcription	Adipose Nuclei	Adipose
17	chr2:148709400-148731800	Weak transcription	Left Ventricle	heart
18	chr2:148709400-148732000	Weak transcription	HUVEC	blood vessel
19	chr2:148709400-148735000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:148709400-148776800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:148709600-148741400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr2:148709800-148747000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:148713600-148735000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:148715600-148734800	Weak transcription	HSMM	muscle
25	chr2:148720000-148735600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:148720000-148736800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:148720600-148735200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:148720800-148741400	Weak transcription	Gastric	stomach
29	chr2:148721200-148735400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:148721200-148735400	Weak transcription	Pancreas	Pancrea
31	chr2:148721200-148735600	Weak transcription	Ovary	ovary
32	chr2:148721400-148735000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:148721400-148735000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:148721400-148735200	Weak transcription	Fetal Stomach	stomach
35	chr2:148721400-148735600	Weak transcription	Esophagus	oesophagus
36	chr2:148721400-148735600	Weak transcription	Thymus	Thymus
37	chr2:148721400-148752800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:148721400-148763600	Weak transcription	Spleen	Spleen
39	chr2:148721600-148735600	Weak transcription	Fetal Thymus	thymus
40	chr2:148722000-148731000	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr2:148722800-148740400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:148722800-148740600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:148722800-148756400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr2:148725600-148735800	Weak transcription	Fetal Lung	lung
45	chr2:148725600-148747600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:148725800-148732800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:148725800-148735000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:148726000-148735400	Weak transcription	Brain Germinal Matrix	brain
49	chr2:148726000-148737600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:148726200-148734400	Weak transcription	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links