Variant report

Variant	nsv583032
Chromosome Location	chr2:127771006-127844735
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2697)
CpG islands
(count:2442)
Chromatin interactive
region (count:74)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2697 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:127807793-127807989	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:127822615-127822618	K562	blood:	n/a	n/a
3	ATF2	chr2:127844404-127844947	GM12878	blood:	n/a	n/a
4	ATF2	chr2:127825499-127825993	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr2:127839350-127839700	GM12878	blood:	n/a	n/a
6	ATF2	chr2:127797116-127797488	GM12878	blood:	n/a	n/a
7	ATF2	chr2:127825494-127825920	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr2:127844429-127844950	GM12878	blood:	n/a	n/a
9	ATF2	chr2:127797006-127797597	GM12878	blood:	n/a	n/a
10	ATF3	chr2:127822254-127822814	A549	lung:	n/a	n/a
11	ATF3	chr2:127825607-127825875	K562	blood:	n/a	n/a
12	ATF3	chr2:127822130-127822684	K562	blood:	n/a	n/a
13	ATF3	chr2:127822206-127822801	K562	blood:	n/a	n/a
14	ATF3	chr2:127825591-127825922	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr2:127783243-127783677	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr2:127825651-127825951	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr2:127807740-127808003	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr2:127802018-127802163	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr2:127782317-127782632	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr2:127822214-127822973	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr2:127822234-127822731	K562	blood:	n/a	n/a
22	BATF	chr2:127797111-127797480	GM12878	blood:	n/a	chr2:127797302-127797313
23	BATF	chr2:127822263-127822708	GM12878	blood:	n/a	chr2:127822516-127822527 chr2:127822517-127822527
24	BATF	chr2:127796995-127797551	GM12878	blood:	n/a	chr2:127797302-127797313
25	BATF	chr2:127790117-127790400	GM12878	blood:	n/a	chr2:127790258-127790269
26	BCL11A	chr2:127844549-127844858	GM12878	blood:	n/a	n/a
27	BCL11A	chr2:127797115-127797534	GM12878	blood:	n/a	chr2:127797302-127797311 chr2:127797301-127797310
28	BCL11A	chr2:127797200-127797457	GM12878	blood:	n/a	chr2:127797302-127797311 chr2:127797301-127797310
29	BCL3	chr2:127822265-127822701	K562	blood:	n/a	n/a
30	BCL3	chr2:127821940-127822838	A549	lung:	n/a	chr2:127822050-127822059
31	BCL3	chr2:127801087-127802446	GM12878	blood:	n/a	n/a
32	BCL3	chr2:127807664-127808252	A549	lung:	n/a	n/a
33	BCL3	chr2:127811506-127811950	GM12878	blood:	n/a	n/a
34	BCL3	chr2:127811578-127811877	GM12878	blood:	n/a	n/a
35	BCL3	chr2:127801129-127802418	GM12878	blood:	n/a	n/a
36	BCLAF1	chr2:127822262-127822771	K562	blood:	n/a	n/a
37	BCLAF1	chr2:127825630-127825900	GM12878	blood:	n/a	n/a
38	BCLAF1	chr2:127844359-127844791	GM12878	blood:	n/a	n/a
39	BCLAF1	chr2:127822359-127822805	GM12878	blood:	n/a	n/a
40	BCLAF1	chr2:127839268-127839716	GM12878	blood:	n/a	n/a
41	BCLAF1	chr2:127822259-127822834	K562	blood:	n/a	n/a
42	BHLHE40	chr2:127804120-127804413	GM12878	blood:	n/a	chr2:127804298-127804307
43	BHLHE40	chr2:127822136-127823109	K562	blood:	n/a	n/a
44	BHLHE40	chr2:127825347-127825940	GM12878	blood:	n/a	n/a
45	BHLHE40	chr2:127822252-127822850	HepG2	liver:	n/a	n/a
46	BHLHE40	chr2:127822373-127822818	GM12878	blood:	n/a	n/a
47	BHLHE40	chr2:127825385-127825984	HepG2	liver:	n/a	n/a
48	BHLHE40	chr2:127807725-127808031	K562	blood:	n/a	chr2:127807929-127807945
49	BHLHE40	chr2:127825293-127825973	K562	blood:	n/a	n/a
50	BHLHE40	chr2:127841796-127841981	K562	blood:	n/a	n/a

(count:2442 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:127826083-127826133	BJ	skin:	n/a
2	chr2:127818101-127818151	Jurkat	blood:	n/a
3	chr2:127826083-127826133	BJ	skin:	n/a
4	chr2:127818101-127818151	Jurkat	blood:	n/a
5	chr2:127780654-127780704	A549	lung:	n/a
6	chr2:127826083-127826133	HAEpiC	amniotic membrane:	n/a
7	chr2:127811805-127811855	U87	brain:	n/a
8	chr2:127817030-127817080	RPTEC	kidney:	n/a
9	chr2:127825935-127825985	BE2_C	brain:	n/a
10	chr2:127825935-127825985	MCF-7	breast:	n/a
11	chr2:127801271-127801321	NT2-D1	testis:	n/a
12	chr2:127800962-127801012	U87	brain:	n/a
13	chr2:127785512-127785562	NH-A	brain:	n/a
14	chr2:127800962-127801012	ProgFib	skin:	n/a
15	chr2:127782552-127782602	ProgFib	skin:	n/a
16	chr2:127805770-127805820	BE2_C	brain:	n/a
17	chr2:127780459-127780509	HEEpiC	esophagus:	n/a
18	chr2:127782552-127782602	HCF	heart:	n/a
19	chr2:127782552-127782602	HepG2	liver:	n/a
20	chr2:127783168-127783218	GM12878	blood:	n/a
21	chr2:127818131-127818181	NH-A	brain:	n/a
22	chr2:127811853-127811903	NB4	blood:	n/a
23	chr2:127774099-127774149	RPTEC	kidney:	n/a
24	chr2:127839539-127839589	BJ	skin:	n/a
25	chr2:127822551-127822601	PANC-1	pancreas:	n/a
26	chr2:127815133-127815183	HEEpiC	esophagus:	n/a
27	chr2:127811805-127811855	HEEpiC	esophagus:	n/a
28	chr2:127783243-127783293	A549	lung:	n/a
29	chr2:127800616-127800666	HCM	heart:	n/a
30	chr2:127818131-127818181	HCPEpiC	choroid plexus:	n/a
31	chr2:127800616-127800666	HEK293	kidney:	embryo
32	chr2:127783243-127783293	AG04449	skin:	fetal
33	chr2:127818000-127818050	HRE	kidney:	n/a
34	chr2:127811805-127811855	PrEC	prostate:	n/a
35	chr2:127800646-127800696	SK-N-MC	brain:	n/a
36	chr2:127801137-127801187	ProgFib	skin:	n/a
37	chr2:127818000-127818050	ProgFib	skin:	n/a
38	chr2:127801271-127801321	GM06990	blood:	n/a
39	chr2:127826149-127826199	Hepatocyte	liver:	n/a
40	chr2:127772338-127772388	RPTEC	kidney:	n/a
41	chr2:127818046-127818096	GM06990	blood:	n/a
42	chr2:127818046-127818096	NT2-D1	testis:	n/a
43	chr2:127817030-127817080	NB4	blood:	n/a
44	chr2:127801271-127801321	RPTEC	kidney:	n/a
45	chr2:127800616-127800666	RPTEC	kidney:	n/a
46	chr2:127780654-127780704	PFSK-1	brain:	n/a
47	chr2:127782813-127782863	CMK	blood:	n/a
48	chr2:127774099-127774149	GM12892	blood:	n/a
49	chr2:127791786-127791836	Hela-S3	cervix:	n/a
50	chr2:127818226-127818276	ovcar-3	ovarian:	n/a

(count:74 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:127812772..127815710-chr2:127817588..127820461,3	K562	blood:
2	chr2:127805679..127808550-chr2:127820998..127823785,2	MCF-7	breast:
3	chr2:127822075..127822831-chr2:128145042..128145699,2	Hela-S3	cervix:
4	chr2:127770472..127772190-chr2:127775592..127777770,2	K562	blood:
5	chr2:127808007..127810886-chr2:127814452..127816219,3	K562	blood:
6	chr2:127824897..127826990-chr2:127827722..127829890,2	K562	blood:
7	chr2:127834991..127836623-chr2:127840456..127842151,2	MCF-7	breast:
8	chr2:127774450..127776161-chr2:127777215..127779693,2	MCF-7	breast:
9	chr2:127002328..127003186-chr2:127807433..127808421,2	K562	blood:
10	chr2:127808366..127808983-chr2:127897489..127898458,2	MCF-7	breast:
11	chr2:127829702..127832406-chr2:127833096..127835380,2	K562	blood:
12	chr2:127820803..127824621-chr2:127824894..127830047,6	K562	blood:
13	chr2:127782007..127782956-chr2:127806151..127807307,3	MCF-7	breast:
14	chr2:127829446..127832299-chr2:127837118..127839537,2	K562	blood:
15	chr2:127839430..127842816-chr2:127848432..127852029,4	MCF-7	breast:
16	chr2:127818793..127821567-chr2:127826127..127828276,2	MCF-7	breast:
17	chr2:127788764..127790541-chr2:127863266..127865749,2	K562	blood:
18	chr2:127837345..127839578-chr2:127840445..127843454,3	MCF-7	breast:
19	chr2:127770472..127772190-chr2:127775592..127777770,2	K562	blood:
20	chr2:127822672..127825565-chr2:127830790..127832845,2	K562	blood:
21	chr2:127842254..127844330-chr2:127859021..127861716,3	MCF-7	breast:
22	chr2:127822717..127824541-chr2:127837362..127839026,2	MCF-7	breast:
23	chr2:127818892..127820837-chr2:127828429..127830167,2	MCF-7	breast:
24	chr2:127825353..127826710-chr2:127931463..127932268,5	MCF-7	breast:
25	chr2:127825650..127826234-chr2:127897075..127897865,2	MCF-7	breast:
26	chr2:127829702..127832406-chr2:127833096..127835380,2	K562	blood:
27	chr2:127825651..127827427-chr2:127830304..127832432,2	MCF-7	breast:
28	chr2:127643679..127644563-chr2:127807789..127808402,4	MCF-7	breast:
29	chr2:127818793..127821567-chr2:127826127..127828276,2	MCF-7	breast:
30	chr2:127729704..127730234-chr2:127807453..127808173,2	K562	blood:
31	chr2:127825662..127826505-chr2:127954218..127955183,2	MCF-7	breast:
32	chr2:127840601..127843824-chr2:127844844..127848160,4	K562	blood:
33	chr2:127800876..127803938-chr2:127806149..127808710,3	MCF-7	breast:
34	chr2:127813553..127815177-chr2:127820446..127822528,2	MCF-7	breast:
35	chr2:127807319..127809537-chr2:127812117..127815933,4	MCF-7	breast:
36	chr2:127844458..127846446-chr2:127850246..127851813,2	K562	blood:
37	chr2:127825651..127827427-chr2:127830304..127832432,2	MCF-7	breast:
38	chr2:127818892..127820837-chr2:127828429..127830167,2	MCF-7	breast:
39	chr2:127819816..127822749-chr2:127823381..127826394,3	K562	blood:
40	chr2:127813553..127815177-chr2:127820446..127822528,2	MCF-7	breast:
41	chr2:127800876..127803938-chr2:127806149..127808710,3	MCF-7	breast:
42	chr2:127643808..127644560-chr2:127807706..127808371,2	K562	blood:
43	chr2:127837345..127839578-chr2:127840445..127843454,3	MCF-7	breast:
44	chr2:127842780..127845072-chr2:127863578..127865079,2	K562	blood:
45	chr2:127834991..127836623-chr2:127840456..127842151,2	MCF-7	breast:
46	chr2:127812299..127814743-chr2:127815692..127817435,2	MCF-7	breast:
47	chr2:127834701..127837421-chr2:127840734..127842424,2	MCF-7	breast:
48	chr2:127822177..127823094-chr7:128694437..128695276,2	Hela-S3	cervix:
49	chr2:127825712..127826261-chr2:127901784..127902300,2	MCF-7	breast:
50	chr2:127822717..127824541-chr2:127837362..127839026,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC114783.1.1-2	chr2:127782787-127787262	ENSG00000260163.1
2	lnc-AC114783.1.1-3	chr2:127789678-127790082	NONHSAT074142
3	lnc-AC114783.1.1-3	chr2:127791251-127791369	NONHSAT074142
4	lnc-AC114783.1.1-2	chr2:127782787-127783795	NONHSAT074140
5	lnc-BIN1-1	chr2:127781828-127783299	ENSG00000260634.1
6	lnc-BIN1-4	chr2:127776786-127777038	expReg_chr2_9063_-
7	lnc-BIN1-5	chr2:127776559-127776781	expReg_chr2_9062_-
8	lnc-BIN1-6	chr2:127774779-127775599	expReg_chr2_9056_-

No data

Variant related genes	Relation type
RNU7-182P	TF binding region
ENSG00000260163	TF binding region
BIN1	TF binding region
ENSG00000260634	TF binding region
RNU7-182P	CpG island
ENSG00000260163	CpG island
BIN1	CpG island
ENSG00000260634	CpG island
ENSG00000260163	chromatin interactions
ENSG00000064419	chromatin interactions
ENSG00000260634	chromatin interactions
ENSG00000136717	chromatin interactions
ENSG00000169967	chromatin interactions
ENSG00000238788	chromatin interactions

Extended variants
information (count: 3217 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:3217 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9287568	chr2:127771006-127771007	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs569588270	chr2:127771014-127771015	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs529166640	chr2:127771033-127771034	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs111848705	chr2:127771034-127771035	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs61146291	chr2:127771056-127771057	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs368382862	chr2:127771087-127771088	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs532915683	chr2:127771103-127771104	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs570971438	chr2:127771122-127771123	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs539812295	chr2:127771146-127771147	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs145836188	chr2:127771150-127771151	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs148976281	chr2:127771173-127771174	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs79564281	chr2:127771179-127771180	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs555832934	chr2:127771226-127771227	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs572553681	chr2:127771269-127771270	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs541235764	chr2:127771305-127771306	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs62157846	chr2:127771314-127771315	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs563805247	chr2:127771338-127771339	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs577340736	chr2:127771339-127771340	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs543143811	chr2:127771348-127771349	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs72974090	chr2:127771356-127771357	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs114523120	chr2:127771371-127771372	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs142988308	chr2:127771389-127771390	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs374036285	chr2:127771405-127771406	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs185045796	chr2:127771410-127771411	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs528252958	chr2:127771429-127771430	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs189147253	chr2:127771478-127771479	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs78173199	chr2:127771487-127771488	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs539923175	chr2:127771586-127771587	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs550338291	chr2:127771593-127771594	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs111958854	chr2:127771604-127771605	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs113721592	chr2:127771609-127771610	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs180899125	chr2:127771649-127771650	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs112564360	chr2:127771654-127771655	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs555985057	chr2:127771656-127771657	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs572667714	chr2:127771677-127771678	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs78001091	chr2:127771687-127771688	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs557910954	chr2:127771725-127771726	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs375829216	chr2:127771755-127771756	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs577852595	chr2:127771792-127771793	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs543107545	chr2:127771827-127771828	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs73953197	chr2:127771837-127771838	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs34077567	chr2:127771844-127771845	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs146627182	chr2:127771893-127771894	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs116758716	chr2:127771960-127771961	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs542270318	chr2:127771979-127771980	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs559567963	chr2:127771982-127771983	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs564964241	chr2:127771984-127771985	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs528370623	chr2:127772003-127772004	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs551733010	chr2:127772013-127772014	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs565062460	chr2:127772018-127772019	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2555 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127768800-127771800	Enhancers	Fetal Intestine Small	intestine
2	chr2:127768800-127773400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:127769000-127771800	Enhancers	Fetal Intestine Large	intestine
4	chr2:127769000-127773600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:127769000-127773600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:127769000-127775200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:127769200-127772000	Weak transcription	HSMM	muscle
8	chr2:127769200-127773400	Enhancers	NHEK	skin
9	chr2:127769400-127771600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:127769400-127773400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:127770000-127771800	Enhancers	Fetal Muscle Trunk	muscle
12	chr2:127770000-127772000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:127770200-127771200	Enhancers	Fetal Kidney	kidney
14	chr2:127770200-127771400	Enhancers	Duodenum Mucosa	Duodenum
15	chr2:127770400-127772400	Bivalent Enhancer	HepG2	liver
16	chr2:127770400-127773400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:127770600-127773200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:127770600-127773200	Enhancers	HMEC	breast
19	chr2:127770800-127773800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:127771000-127771200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:127771000-127771400	Weak transcription	NHLF	lung
22	chr2:127771000-127771600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:127771000-127773400	Enhancers	NHDF-Ad	bronchial
24	chr2:127771200-127771800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:127771400-127771800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:127771400-127773400	Enhancers	NHLF	lung
27	chr2:127771600-127771800	Bivalent Enhancer	Osteobl	bone
28	chr2:127771600-127772200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr2:127771600-127772400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:127771600-127773400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:127771600-127773600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr2:127771800-127772000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:127771800-127772200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:127771800-127772200	Weak transcription	Right Atrium	heart
35	chr2:127771800-127772600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:127771800-127773000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:127771800-127773200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:127771800-127773200	Enhancers	NH-A	brain
39	chr2:127771800-127773400	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr2:127771800-127773400	Enhancers	Osteobl	bone
41	chr2:127771800-127776600	Weak transcription	Fetal Intestine Small	intestine
42	chr2:127772000-127772400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:127772000-127772400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:127772000-127773000	Enhancers	HSMM	muscle
45	chr2:127772000-127773200	Enhancers	HUVEC	blood vessel
46	chr2:127772400-127773800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:127772600-127775200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:127773000-127773400	Enhancers	Fetal Muscle Trunk	muscle
49	chr2:127773200-127773400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr2:127773400-127773600	Enhancers	Spleen	Spleen

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