Variant report

Variant	nsv535976
Chromosome Location	chr2:148755022-148842566
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1192)
CpG islands
(count:854)
Chromatin interactive
region (count:56)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1192 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:148810230-148810584	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:148779891-148780131	K562	blood:	n/a	n/a
3	ARID3A	chr2:148777693-148778271	K562	blood:	n/a	n/a
4	ARID3A	chr2:148780420-148780619	K562	blood:	n/a	n/a
5	ARID3A	chr2:148777639-148778741	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:148778946-148779315	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:148756715-148756858	K562	blood:	n/a	n/a
8	ARID3A	chr2:148776453-148776679	K562	blood:	n/a	n/a
9	ATF1	chr2:148778210-148778730	K562	blood:	n/a	n/a
10	ATF2	chr2:148805766-148807114	GM12878	blood:	n/a	n/a
11	ATF2	chr2:148778167-148779037	GM12878	blood:	n/a	n/a
12	ATF2	chr2:148799549-148800235	GM12878	blood:	n/a	n/a
13	ATF2	chr2:148805695-148807140	GM12878	blood:	n/a	n/a
14	ATF2	chr2:148777775-148778557	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr2:148777599-148779168	GM12878	blood:	n/a	n/a
16	ATF2	chr2:148799610-148800244	GM12878	blood:	n/a	n/a
17	ATF3	chr2:148778167-148778529	HepG2	liver:	n/a	chr2:148778471-148778480
18	ATF3	chr2:148777950-148778529	GM12878	blood:	n/a	chr2:148778471-148778480
19	BATF	chr2:148803827-148804138	GM12878	blood:	n/a	n/a
20	BATF	chr2:148789167-148789394	GM12878	blood:	n/a	n/a
21	BATF	chr2:148799707-148800070	GM12878	blood:	n/a	chr2:148799907-148799918
22	BATF	chr2:148806259-148806907	GM12878	blood:	n/a	chr2:148806614-148806625
23	BATF	chr2:148806449-148806848	GM12878	blood:	n/a	chr2:148806614-148806625
24	BATF	chr2:148799772-148800076	GM12878	blood:	n/a	chr2:148799907-148799918
25	BATF	chr2:148803918-148804156	GM12878	blood:	n/a	n/a
26	BCL11A	chr2:148799776-148800128	GM12878	blood:	n/a	chr2:148800002-148800011
27	BCL11A	chr2:148799845-148800073	GM12878	blood:	n/a	chr2:148800002-148800011
28	BCL11A	chr2:148806525-148806767	GM12878	blood:	n/a	n/a
29	BCL11A	chr2:148806110-148806885	GM12878	blood:	n/a	n/a
30	BCL3	chr2:148805871-148806863	GM12878	blood:	n/a	n/a
31	BCL3	chr2:148799732-148800218	GM12878	blood:	n/a	chr2:148800002-148800011
32	BCL3	chr2:148778097-148778782	A549	lung:	n/a	chr2:148778394-148778403
33	BCLAF1	chr2:148777882-148779142	GM12878	blood:	n/a	chr2:148778394-148778403
34	BCLAF1	chr2:148799581-148800151	GM12878	blood:	n/a	chr2:148800002-148800011
35	BCLAF1	chr2:148805628-148807044	GM12878	blood:	n/a	n/a
36	BCLAF1	chr2:148778798-148779291	GM12878	blood:	n/a	n/a
37	BCLAF1	chr2:148777838-148778752	GM12878	blood:	n/a	chr2:148778394-148778403
38	BCLAF1	chr2:148806074-148806967	GM12878	blood:	n/a	n/a
39	BCLAF1	chr2:148799725-148800084	GM12878	blood:	n/a	chr2:148800002-148800011
40	BHLHE40	chr2:148805899-148807141	GM12878	blood:	n/a	n/a
41	BHLHE40	chr2:148778002-148779344	GM12878	blood:	n/a	n/a
42	BHLHE40	chr2:148777625-148779009	HepG2	liver:	n/a	n/a
43	BHLHE40	chr2:148783631-148783811	K562	blood:	n/a	n/a
44	BHLHE40	chr2:148777500-148779565	K562	blood:	n/a	n/a
45	BRCA1	chr2:148777938-148778665	GM12878	blood:	n/a	n/a
46	BRCA1	chr2:148777945-148778567	HepG2	liver:	n/a	n/a
47	BRCA1	chr2:148777798-148778676	Hela-S3	cervix:	n/a	n/a
48	CBX3	chr2:148777781-148778727	K562	blood:	n/a	n/a
49	CCNT2	chr2:148777742-148778618	K562	blood:	n/a	chr2:148778341-148778350 chr2:148778471-148778480 chr2:148778557-148778566
50	CEBPB	chr2:148757268-148757411	K562	blood:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:148777915-148777965	MCF-7	breast:	n/a
2	chr2:148778181-148778231	Hepatocyte	liver:	n/a
3	chr2:148779348-148779398	SAEC	small airway:	n/a
4	chr2:148779348-148779398	AG10803	skin:	n/a
5	chr2:148778181-148778231	HepG2	liver:	n/a
6	chr2:148777915-148777965	GM19239	blood:	n/a
7	chr2:148778969-148779019	HPAEpiC	pulmonary alveolar:	n/a
8	chr2:148779335-148779385	SK-N-MC	brain:	n/a
9	chr2:148779335-148779385	NB4	blood:	n/a
10	chr2:148758708-148758758	A549	lung:	n/a
11	chr2:148815999-148816049	SK-N-SH_RA	brain:	n/a
12	chr2:148779335-148779385	HepG2	liver:	n/a
13	chr2:148778969-148779019	H1-hESC	embryonic stem cell:	embryo
14	chr2:148782427-148782477	HNPCEpiC	eye:	n/a
15	chr2:148778969-148779019	RPTEC	kidney:	n/a
16	chr2:148782427-148782477	AG09319	gingival:	n/a
17	chr2:148779683-148779733	HRE	kidney:	n/a
18	chr2:148779564-148779614	HEEpiC	esophagus:	n/a
19	chr2:148778181-148778231	SAEC	small airway:	n/a
20	chr2:148782427-148782477	NHDF-neo	bronchial:	n/a
21	chr2:148779683-148779733	HCT-116	colon:	n/a
22	chr2:148778969-148779019	GM12892	blood:	n/a
23	chr2:148815999-148816049	AG10803	skin:	n/a
24	chr2:148758708-148758758	NHDF-neo	bronchial:	n/a
25	chr2:148782427-148782477	MCF10A-Er-Src	breast:	n/a
26	chr2:148815999-148816049	PrEC	prostate:	n/a
27	chr2:148779683-148779733	HepG2	liver:	n/a
28	chr2:148777915-148777965	GM12892	blood:	n/a
29	chr2:148777915-148777965	HCPEpiC	choroid plexus:	n/a
30	chr2:148778969-148779019	HCT-116	colon:	n/a
31	chr2:148782427-148782477	ProgFib	skin:	n/a
32	chr2:148815999-148816049	HMEC	breast:	n/a
33	chr2:148758708-148758758	Hela-S3	cervix:	n/a
34	chr2:148839265-148839315	HPAEpiC	pulmonary alveolar:	n/a
35	chr2:148778969-148779019	A549	lung:	n/a
36	chr2:148779307-148779357	IMR90	lung:	fetal
37	chr2:148778969-148779019	SK-N-SH_RA	brain:	n/a
38	chr2:148779683-148779733	U87	brain:	n/a
39	chr2:148839265-148839315	HAEpiC	amniotic membrane:	n/a
40	chr2:148779683-148779733	AG09319	gingival:	n/a
41	chr2:148779348-148779398	A549	lung:	n/a
42	chr2:148778495-148778545	HEEpiC	esophagus:	n/a
43	chr2:148758708-148758758	GM12891	blood:	n/a
44	chr2:148782427-148782477	PrEC	prostate:	n/a
45	chr2:148839265-148839315	HRPEpiC	eye:	n/a
46	chr2:148778969-148779019	BE2_C	brain:	n/a
47	chr2:148815999-148816049	GM06990	blood:	n/a
48	chr2:148778969-148779019	AG10803	skin:	n/a
49	chr2:148815999-148816049	ProgFib	skin:	n/a
50	chr2:148782427-148782477	Hela-S3	cervix:	n/a

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:145382244..145383020-chr2:148777927..148778778,2	HCT-116	colon:
2	chr2:148796353..148798191-chr2:148802415..148804582,2	K562	blood:
3	chr2:148831814..148833866-chr2:148838337..148840088,2	K562	blood:
4	chr2:148839523..148841211-chr2:148842127..148844445,2	K562	blood:
5	chr2:148801657..148804409-chr2:148807658..148809416,2	MCF-7	breast:
6	chr2:148801242..148804386-chr2:148805992..148808157,4	K562	blood:
7	chr2:148762250..148764768-chr2:148777590..148779447,2	MCF-7	breast:
8	chr2:148765021..148767403-chr2:148770633..148772597,2	K562	blood:
9	chr2:148793989..148796591-chr2:148815417..148817298,2	K562	blood:
10	chr2:148818705..148820589-chr2:148824017..148825657,2	MCF-7	breast:
11	chr2:148777800..148778420-chr6:32821048..32821837,2	NB4	blood:
12	chr2:148765519..148769720-chr2:148770172..148772833,3	K562	blood:
13	chr2:148765218..148768390-chr2:148776521..148778728,3	MCF-7	breast:
14	chr2:148784396..148788846-chr2:148789085..148797042,12	K562	blood:
15	chr2:148826768..148827504-chr6:20350150..20350710,2	MCF-7	breast:
16	chr2:148773879..148776006-chr2:148779968..148781591,2	MCF-7	breast:
17	chr2:148765519..148769720-chr2:148770172..148772833,3	K562	blood:
18	chr2:148801657..148804409-chr2:148807658..148809416,2	MCF-7	breast:
19	chr2:148790987..148792533-chr2:148818638..148820263,2	K562	blood:
20	chr2:148766857..148769068-chr2:148777403..148779388,2	K562	blood:
21	chr2:148778374..148778927-chr5:41925178..41925893,2	Hela-S3	cervix:
22	chr2:148794522..148796703-chr2:148799769..148801375,2	K562	blood:
23	chr2:148795246..148798191-chr2:148802393..148803915,2	K562	blood:
24	chr2:148784529..148787318-chr2:148787850..148789462,2	MCF-7	breast:
25	chr2:148831814..148833866-chr2:148838337..148840088,2	K562	blood:
26	chr2:148772919..148776158-chr2:148776634..148779455,3	MCF-7	breast:
27	chr2:148795246..148798191-chr2:148802393..148803915,2	K562	blood:
28	chr2:148794522..148796703-chr2:148799769..148801375,2	K562	blood:
29	chr2:148776962..148779896-chr2:148780492..148782888,3	MCF-7	breast:
30	chr2:148811506..148813577-chr2:148817603..148819976,2	K562	blood:
31	chr2:148790987..148792533-chr2:148818638..148820263,2	K562	blood:
32	chr2:148781884..148783998-chr2:148786718..148789864,3	K562	blood:
33	chr2:148747119..148747979-chr2:148777459..148778023,2	MCF-7	breast:
34	chr2:148782652..148784833-chr2:148785431..148787188,2	MCF-7	breast:
35	chr2:148755309..148758512-chr2:148776445..148778931,3	MCF-7	breast:
36	chr2:148777791..148778435-chr9:34611815..34612562,2	NB4	blood:
37	chr2:148784396..148788846-chr2:148789085..148797042,12	K562	blood:
38	chr2:148839523..148841211-chr2:148842127..148844445,2	K562	blood:
39	chr2:148801242..148804386-chr2:148805992..148808157,4	K562	blood:
40	chr2:148777810..148780521-chr2:149401501..149403816,2	MCF-7	breast:
41	chr2:148773879..148776006-chr2:148779968..148781591,2	MCF-7	breast:
42	chr2:148790035..148791910-chr2:148820838..148823392,2	K562	blood:
43	chr2:148784529..148787318-chr2:148787850..148789462,2	MCF-7	breast:
44	chr2:148818705..148820589-chr2:148824017..148825657,2	MCF-7	breast:
45	chr2:148790035..148791910-chr2:148820838..148823392,2	K562	blood:
46	chr2:148782652..148784833-chr2:148785431..148787188,2	MCF-7	breast:
47	chr2:148781884..148783998-chr2:148786718..148789864,3	K562	blood:
48	chr14:31090963..31091593-chr2:148777702..148778439,2	Hela-S3	cervix:
49	chr2:148778014..148780334-chr2:148791954..148794463,2	K562	blood:
50	chr2:148777400..148781221-chr2:148785788..148788815,4	MCF-7	breast:

(count:13 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 2924 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2924 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190493178	chr2:148755042-148755043	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs182249749	chr2:148755048-148755049	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs145750164	chr2:148755110-148755111	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs572475849	chr2:148755122-148755123	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs545986499	chr2:148755132-148755133	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs112702716	chr2:148755168-148755169	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs564266976	chr2:148755177-148755178	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs531447925	chr2:148755188-148755189	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs370989588	chr2:148755214-148755215	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs13014936	chr2:148755237-148755238	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs561675781	chr2:148755258-148755259	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs184257758	chr2:148755377-148755378	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs536095017	chr2:148755378-148755379	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs113569371	chr2:148755389-148755390	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs114218781	chr2:148755423-148755424	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs189119686	chr2:148755521-148755522	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs181576261	chr2:148755568-148755569	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs28412834	chr2:148755597-148755598	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs185282608	chr2:148755600-148755601	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs35290673	chr2:148755605-148755606	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs191274336	chr2:148755651-148755652	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs568738312	chr2:148755668-148755669	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs536180381	chr2:148755748-148755749	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs138350125	chr2:148755814-148755815	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs398080703	chr2:148755817-148755818	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs397693740	chr2:148755818-148755819	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs554090327	chr2:148755841-148755842	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs572360256	chr2:148755961-148755962	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs539912544	chr2:148755966-148755967	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs558016144	chr2:148756047-148756048	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs575809297	chr2:148756054-148756055	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs62169532	chr2:148756072-148756073	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs561559514	chr2:148756095-148756096	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs573569508	chr2:148756110-148756111	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs540928106	chr2:148756300-148756301	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs557277974	chr2:148756322-148756323	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs532826006	chr2:148756323-148756324	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs138484818	chr2:148756374-148756375	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs563276626	chr2:148756385-148756386	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs543249765	chr2:148756453-148756454	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs180741878	chr2:148756466-148756467	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs550371057	chr2:148756498-148756499	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs544051079	chr2:148756502-148756503	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs565224298	chr2:148756556-148756557	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs13022962	chr2:148756624-148756625	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs71413606	chr2:148756657-148756658	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs12053401	chr2:148756668-148756669	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs566062384	chr2:148756726-148756727	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs539476541	chr2:148756764-148756765	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs374795943	chr2:148756779-148756780	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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

Chromatin state (count:1425 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148694200-148777400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:148709400-148776800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:148721400-148763600	Weak transcription	Spleen	Spleen
4	chr2:148722800-148756400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:148728200-148773400	Weak transcription	K562	blood
6	chr2:148736000-148776800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr2:148736400-148765600	Weak transcription	A549	lung
8	chr2:148739000-148759800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:148741200-148758000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:148741600-148755800	Weak transcription	Ovary	ovary
11	chr2:148741600-148756200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:148741800-148757400	Weak transcription	Aorta	Aorta
13	chr2:148742200-148755800	Weak transcription	Gastric	stomach
14	chr2:148742400-148755800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:148742400-148756000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:148743600-148757800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:148743600-148757800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:148744600-148755800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr2:148747400-148758600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:148748000-148771400	Weak transcription	Fetal Kidney	kidney
21	chr2:148748200-148755800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:148748200-148756600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:148748400-148755600	Weak transcription	Liver	Liver
24	chr2:148750000-148756200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:148750800-148755800	Weak transcription	Psoas Muscle	Psoas
26	chr2:148750800-148758000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:148750800-148764000	Weak transcription	Left Ventricle	heart
28	chr2:148751400-148758600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:148753000-148755800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:148753000-148755800	Weak transcription	Small Intestine	intestine
31	chr2:148753000-148756000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:148753200-148755800	Weak transcription	Esophagus	oesophagus
33	chr2:148753400-148755800	Weak transcription	Lung	lung
34	chr2:148753400-148756000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:148753400-148756400	Weak transcription	Fetal Muscle Leg	muscle
36	chr2:148753400-148756800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:148753400-148756800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:148753400-148757000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:148753400-148758400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:148753400-148760200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr2:148753400-148763400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:148753400-148764400	Weak transcription	Primary B cells from cord blood	blood
43	chr2:148753400-148764600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:148753400-148765200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:148753400-148765800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr2:148753400-148775800	Weak transcription	Thymus	Thymus
47	chr2:148753400-148776400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:148753400-148776400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:148753400-148777600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:148753600-148756000	Weak transcription	Fetal Intestine Small	intestine

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