Variant report

Variant	nsv1003887
Chromosome Location	chr2:127802375-127862257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2074)
CpG islands
(count:1467)
Chromatin interactive
region (count:91)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2074 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

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	chr2:127825494-127825920	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr2:127839350-127839700	GM12878	blood:	n/a	n/a
5	ATF2	chr2:127844404-127844947	GM12878	blood:	n/a	n/a
6	ATF2	chr2:127844429-127844950	GM12878	blood:	n/a	n/a
7	ATF2	chr2:127825499-127825993	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr2:127822206-127822801	K562	blood:	n/a	n/a
9	ATF3	chr2:127822254-127822814	A549	lung:	n/a	n/a
10	ATF3	chr2:127822130-127822684	K562	blood:	n/a	n/a
11	ATF3	chr2:127825607-127825875	K562	blood:	n/a	n/a
12	ATF3	chr2:127825591-127825922	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr2:127822234-127822731	K562	blood:	n/a	n/a
14	BACH1	chr2:127846567-127846639	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr2:127822214-127822973	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr2:127807740-127808003	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr2:127825651-127825951	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr2:127822263-127822708	GM12878	blood:	n/a	chr2:127822516-127822527 chr2:127822517-127822527
19	BCL11A	chr2:127844549-127844858	GM12878	blood:	n/a	n/a
20	BCL3	chr2:127821940-127822838	A549	lung:	n/a	chr2:127822050-127822059
21	BCL3	chr2:127811506-127811950	GM12878	blood:	n/a	n/a
22	BCL3	chr2:127822265-127822701	K562	blood:	n/a	n/a
23	BCL3	chr2:127811578-127811877	GM12878	blood:	n/a	n/a
24	BCL3	chr2:127801129-127802418	GM12878	blood:	n/a	n/a
25	BCL3	chr2:127801087-127802446	GM12878	blood:	n/a	n/a
26	BCL3	chr2:127807664-127808252	A549	lung:	n/a	n/a
27	BCLAF1	chr2:127822359-127822805	GM12878	blood:	n/a	n/a
28	BCLAF1	chr2:127844359-127844791	GM12878	blood:	n/a	n/a
29	BCLAF1	chr2:127822262-127822771	K562	blood:	n/a	n/a
30	BCLAF1	chr2:127839268-127839716	GM12878	blood:	n/a	n/a
31	BCLAF1	chr2:127825630-127825900	GM12878	blood:	n/a	n/a
32	BCLAF1	chr2:127822259-127822834	K562	blood:	n/a	n/a
33	BHLHE40	chr2:127825385-127825984	HepG2	liver:	n/a	n/a
34	BHLHE40	chr2:127842880-127843222	GM12878	blood:	n/a	n/a
35	BHLHE40	chr2:127841796-127841981	K562	blood:	n/a	n/a
36	BHLHE40	chr2:127819030-127819058	HepG2	liver:	n/a	n/a
37	BHLHE40	chr2:127804162-127804488	K562	blood:	n/a	chr2:127804298-127804307
38	BHLHE40	chr2:127825347-127825940	GM12878	blood:	n/a	n/a
39	BHLHE40	chr2:127838526-127839961	GM12878	blood:	n/a	n/a
40	BHLHE40	chr2:127823468-127823585	K562	blood:	n/a	n/a
41	BHLHE40	chr2:127838100-127838398	K562	blood:	n/a	n/a
42	BHLHE40	chr2:127804120-127804413	GM12878	blood:	n/a	chr2:127804298-127804307
43	BHLHE40	chr2:127822252-127822850	HepG2	liver:	n/a	n/a
44	BHLHE40	chr2:127822373-127822818	GM12878	blood:	n/a	n/a
45	BHLHE40	chr2:127810784-127810984	K562	blood:	n/a	n/a
46	BHLHE40	chr2:127825293-127825973	K562	blood:	n/a	n/a
47	BHLHE40	chr2:127822136-127823109	K562	blood:	n/a	n/a
48	BHLHE40	chr2:127844529-127844581	K562	blood:	n/a	n/a
49	BHLHE40	chr2:127825542-127825899	A549	lung:	n/a	n/a
50	BHLHE40	chr2:127804192-127804461	HepG2	liver:	n/a	chr2:127804298-127804307

(count:1467 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:127815133-127815183	GM12878	blood:	n/a
2	chr2:127815133-127815183	H1-hESC	embryonic stem cell:	embryo
3	chr2:127819455-127819505	HRPEpiC	eye:	n/a
4	chr2:127815133-127815183	GM12878	blood:	n/a
5	chr2:127815133-127815183	H1-hESC	embryonic stem cell:	embryo
6	chr2:127819455-127819505	HRPEpiC	eye:	n/a
7	chr2:127861092-127861142	PANC-1	pancreas:	n/a
8	chr2:127818000-127818050	NB4	blood:	n/a
9	chr2:127822551-127822601	BJ	skin:	n/a
10	chr2:127805910-127805960	ECC-1	luminal epithelium:	n/a
11	chr2:127825935-127825985	HRCEpiC	kidney:	n/a
12	chr2:127811805-127811855	HMEC	breast:	n/a
13	chr2:127818101-127818151	NB4	blood:	n/a
14	chr2:127818000-127818050	NH-A	brain:	n/a
15	chr2:127818000-127818050	LNCaP	prostate:	n/a
16	chr2:127818131-127818181	ovcar-3	ovarian:	n/a
17	chr2:127805770-127805820	Hepatocyte	liver:	n/a
18	chr2:127822551-127822601	HL-60	blood:	n/a
19	chr2:127818101-127818151	MCF10A-Er-Src	breast:	n/a
20	chr2:127861092-127861142	AG10803	skin:	n/a
21	chr2:127805855-127805905	AG09309	skin:	n/a
22	chr2:127818131-127818181	AG04450	lung:	fetal
23	chr2:127805770-127805820	BJ	skin:	n/a
24	chr2:127826083-127826133	U87	brain:	n/a
25	chr2:127818131-127818181	AG10803	skin:	n/a
26	chr2:127818046-127818096	HNPCEpiC	eye:	n/a
27	chr2:127818101-127818151	Hepatocyte	liver:	n/a
28	chr2:127817030-127817080	T-47D	breast:	n/a
29	chr2:127818000-127818050	SK-N-SH_RA	brain:	n/a
30	chr2:127821711-127821761	NHBE	bronchial:	n/a
31	chr2:127861092-127861142	K562	blood:	n/a
32	chr2:127825935-127825985	GM12892	blood:	n/a
33	chr2:127818101-127818151	SKMC	muscle:	n/a
34	chr2:127818226-127818276	NT2-D1	testis:	n/a
35	chr2:127818226-127818276	ProgFib	skin:	n/a
36	chr2:127822551-127822601	NT2-D1	testis:	n/a
37	chr2:127811853-127811903	HL-60	blood:	n/a
38	chr2:127818046-127818096	RPTEC	kidney:	n/a
39	chr2:127826083-127826133	Jurkat	blood:	n/a
40	chr2:127821711-127821761	H1-hESC	embryonic stem cell:	embryo
41	chr2:127815133-127815183	HRCEpiC	kidney:	n/a
42	chr2:127805770-127805820	PrEC	prostate:	n/a
43	chr2:127818046-127818096	T-47D	breast:	n/a
44	chr2:127805910-127805960	HCM	heart:	n/a
45	chr2:127811853-127811903	AG10803	skin:	n/a
46	chr2:127818101-127818151	HEEpiC	esophagus:	n/a
47	chr2:127805855-127805905	SK-N-SH_RA	brain:	n/a
48	chr2:127818131-127818181	HRCEpiC	kidney:	n/a
49	chr2:127821711-127821761	LNCaP	prostate:	n/a
50	chr2:127818226-127818276	Hela-S3	cervix:	n/a

(count:91 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:127823166..127825424-chr2:127856557..127859034,2	MCF-7	breast:
2	chr2:127853140..127855394-chr2:127860485..127862176,2	MCF-7	breast:
3	chr2:127808366..127808983-chr2:127897489..127898458,2	MCF-7	breast:
4	chr2:127840601..127843824-chr2:127844844..127848160,4	K562	blood:
5	chr2:127825460..127825985-chr2:127931746..127932330,2	MCF-7	breast:
6	chr2:127812299..127814743-chr2:127815692..127817435,2	MCF-7	breast:
7	chr2:127822717..127824541-chr2:127837362..127839026,2	MCF-7	breast:
8	chr2:127852372..127854342-chr2:127858358..127859956,2	MCF-7	breast:
9	chr2:127834991..127836623-chr2:127840456..127842151,2	MCF-7	breast:
10	chr2:127853140..127855394-chr2:127860485..127862176,2	MCF-7	breast:
11	chr2:127825662..127826505-chr2:127954218..127955183,2	MCF-7	breast:
12	chr2:127840959..127842662-chr2:127845324..127846999,2	K562	blood:
13	chr2:127825712..127826261-chr2:127901784..127902300,2	MCF-7	breast:
14	chr2:127846711..127850055-chr2:127853164..127855548,3	MCF-7	breast:
15	chr2:127829446..127832299-chr2:127837118..127839537,2	K562	blood:
16	chr2:127825651..127827427-chr2:127830304..127832432,2	MCF-7	breast:
17	chr2:127825705..127826883-chr2:127897059..127898198,8	MCF-7	breast:
18	chr2:127825353..127826710-chr2:127931463..127932268,5	MCF-7	breast:
19	chr2:127841990..127844933-chr2:127856467..127858298,2	K562	blood:
20	chr2:127852372..127854342-chr2:127858358..127859956,2	MCF-7	breast:
21	chr2:127813553..127815177-chr2:127820446..127822528,2	MCF-7	breast:
22	chr2:127840601..127843824-chr2:127844844..127848160,4	K562	blood:
23	chr2:127854702..127856656-chr2:127856950..127858701,2	MCF-7	breast:
24	chr2:127837291..127839948-chr2:127841422..127844629,3	K562	blood:
25	chr2:127829702..127832406-chr2:127833096..127835380,2	K562	blood:
26	chr2:127822717..127824541-chr2:127837362..127839026,2	MCF-7	breast:
27	chr2:127809898..127812598-chr2:127812721..127816309,3	MCF-7	breast:
28	chr2:127807319..127809537-chr2:127812117..127815933,4	MCF-7	breast:
29	chr2:127815185..127819090-chr2:127820939..127825042,7	K562	blood:
30	chr2:127825223..127826267-chr2:127857805..127858865,3	MCF-7	breast:
31	chr2:127825223..127826267-chr2:127857805..127858865,3	MCF-7	breast:
32	chr2:127843180..127845570-chr2:127848864..127852714,3	MCF-7	breast:
33	chr2:127823166..127825424-chr2:127856557..127859034,2	MCF-7	breast:
34	chr2:127844458..127846446-chr2:127850246..127851813,2	K562	blood:
35	chr2:127729704..127730234-chr2:127807453..127808173,2	K562	blood:
36	chr2:127815347..127818543-chr2:127821043..127823308,3	K562	blood:
37	chr2:127800876..127803938-chr2:127806149..127808710,3	MCF-7	breast:
38	chr2:127810346..127812900-chr2:127820941..127823666,3	MCF-7	breast:
39	chr2:127846603..127849237-chr2:127850068..127853450,3	K562	blood:
40	chr2:127813553..127815177-chr2:127820446..127822528,2	MCF-7	breast:
41	chr2:127825651..127827427-chr2:127830304..127832432,2	MCF-7	breast:
42	chr2:127857696..127862567-chr2:127862895..127866178,8	MCF-7	breast:
43	chr2:127806982..127809850-chr2:127810680..127814139,4	K562	blood:
44	chr2:127834991..127836623-chr2:127840456..127842151,2	MCF-7	breast:
45	chr2:127834701..127837421-chr2:127840734..127842424,2	MCF-7	breast:
46	chr2:127808007..127810886-chr2:127814452..127816219,3	K562	blood:
47	chr2:127837345..127839578-chr2:127840445..127843454,3	MCF-7	breast:
48	chr2:127800876..127803938-chr2:127806149..127808710,3	MCF-7	breast:
49	chr2:127846711..127850055-chr2:127853164..127855548,3	MCF-7	breast:
50	chr2:127825650..127826234-chr2:127897075..127897865,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYP27C1-1	chr2:127861773-127862104	expReg_chr2_9105_-

No data

Variant related genes	Relation type
BIN1	TF binding region
BIN1	CpG island
ENSG00000260163	chromatin interactions
ENSG00000169967	chromatin interactions
ENSG00000136717	chromatin interactions
ENSG00000064419	chromatin interactions

Extended variants
information (count: 2719 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2719 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17040070	chr2:127802375-127802376	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139287435	chr2:127802378-127802379	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs547154748	chr2:127802406-127802407	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs560485943	chr2:127802462-127802463	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs144163948	chr2:127802474-127802475	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs552308116	chr2:127802475-127802476	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs569502675	chr2:127802506-127802507	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs57608412	chr2:127802599-127802600	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs530965035	chr2:127802600-127802601	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs201461128	chr2:127802601-127802602	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs60777252	chr2:127802624-127802625	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs75423230	chr2:127802626-127802627	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs568362932	chr2:127802628-127802629	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs397932747	chr2:127802629-127802630	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs533634054	chr2:127802638-127802639	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs553486836	chr2:127802650-127802651	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs570092249	chr2:127802676-127802677	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs369045007	chr2:127802678-127802679	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs72843900	chr2:127802704-127802705	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs146508837	chr2:127802715-127802716	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs576238979	chr2:127802755-127802756	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs541803698	chr2:127802768-127802769	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs555589915	chr2:127802773-127802774	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs572302998	chr2:127802786-127802787	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs540706559	chr2:127802827-127802828	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs560541226	chr2:127802857-127802858	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs532511188	chr2:127802955-127802956	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs186349099	chr2:127802982-127802983	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs191901848	chr2:127803006-127803007	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs371730164	chr2:127803011-127803012	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs532031125	chr2:127803012-127803013	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs548643342	chr2:127803014-127803015	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs568301318	chr2:127803024-127803025	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs552825311	chr2:127803044-127803045	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs566218896	chr2:127803058-127803059	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs79800110	chr2:127803073-127803074	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs143459271	chr2:127803074-127803075	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs377572955	chr2:127803075-127803076	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs536581065	chr2:127803127-127803128	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs541307487	chr2:127803134-127803135	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs547606106	chr2:127803148-127803149	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs570171758	chr2:127803213-127803214	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs554856291	chr2:127803228-127803229	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs556120282	chr2:127803239-127803240	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs35937101	chr2:127803269-127803270	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs569589312	chr2:127803316-127803317	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs142041568	chr2:127803383-127803384	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs12622717	chr2:127803425-127803426	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs12611852	chr2:127803435-127803436	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs572389600	chr2:127803436-127803437	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	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:2876 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127783800-127815600	Weak transcription	Aorta	Aorta
2	chr2:127793200-127805400	Weak transcription	Liver	Liver
3	chr2:127795800-127807600	Weak transcription	Brain Germinal Matrix	brain
4	chr2:127797600-127805200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:127797800-127803600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:127797800-127805600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:127798200-127811400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:127799400-127804800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:127799600-127803800	Weak transcription	Right Ventricle	heart
10	chr2:127799600-127805800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:127799600-127805800	Weak transcription	Gastric	stomach
12	chr2:127799600-127806200	Weak transcription	Brain Angular Gyrus	brain
13	chr2:127800000-127807600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:127800200-127807400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:127801200-127802400	ZNF genes & repeats	Fetal Kidney	kidney
16	chr2:127801200-127806000	Weak transcription	NHLF	lung
17	chr2:127801400-127803400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:127801600-127803000	Weak transcription	Fetal Heart	heart
19	chr2:127801600-127807600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:127801800-127802400	ZNF genes & repeats	Fetal Brain Male	brain
21	chr2:127802000-127803000	Weak transcription	Pancreas	Pancrea
22	chr2:127802000-127804400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:127802000-127818800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:127802200-127802800	Active TSS	Spleen	Spleen
25	chr2:127802200-127803200	Weak transcription	Fetal Lung	lung
26	chr2:127802200-127803200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr2:127802200-127813600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:127802400-127802600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:127802400-127816000	Weak transcription	Fetal Brain Male	brain
30	chr2:127802400-127822800	Weak transcription	Fetal Kidney	kidney
31	chr2:127802600-127802800	Enhancers	Ovary	ovary
32	chr2:127802600-127803400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:127802600-127804200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:127802600-127804400	Enhancers	Fetal Muscle Trunk	muscle
35	chr2:127802600-127804600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:127802600-127804600	Enhancers	Fetal Muscle Leg	muscle
37	chr2:127802800-127803400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:127802800-127803400	Enhancers	Brain Anterior Caudate	brain
39	chr2:127802800-127803400	Weak transcription	Ovary	ovary
40	chr2:127802800-127804000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:127802800-127804000	Enhancers	Adipose Nuclei	Adipose
42	chr2:127802800-127804000	Enhancers	Brain Cingulate Gyrus	brain
43	chr2:127802800-127804200	Enhancers	Fetal Stomach	stomach
44	chr2:127802800-127804600	Weak transcription	Spleen	Spleen
45	chr2:127802800-127805400	Weak transcription	Primary T cells from cord blood	blood
46	chr2:127803000-127803200	Enhancers	Fetal Heart	heart
47	chr2:127803000-127803600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
48	chr2:127803000-127804000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:127803000-127804200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:127803000-127804600	Enhancers	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links