Variant report

Variant	nsv1007491
Chromosome Location	chr2:48752185-48796441
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:526)
CpG islands
(count:856)
Chromatin interactive
region (count:20)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:526 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:48772588-48772694	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:48772426-48772615	K562	blood:	n/a	n/a
3	ARID3A	chr2:48793805-48793997	HepG2	liver:	n/a	n/a
4	ATF3	chr2:48772405-48772657	K562	blood:	n/a	n/a
5	BHLHE40	chr2:48772416-48772721	K562	blood:	n/a	n/a
6	CBX3	chr2:48772283-48772746	K562	blood:	n/a	n/a
7	CBX3	chr2:48772430-48772704	K562	blood:	n/a	n/a
8	CCNT2	chr2:48757262-48757674	K562	blood:	n/a	n/a
9	CEBPB	chr2:48765341-48765586	A549	lung:	n/a	chr2:48765466-48765477
10	CEBPB	chr2:48765340-48765594	HepG2	liver:	n/a	chr2:48765466-48765477
11	CEBPB	chr2:48765362-48765619	IMR90	lung:	n/a	chr2:48765466-48765477
12	CHD2	chr2:48772558-48772692	HepG2	liver:	n/a	n/a
13	CHD2	chr2:48772547-48772718	K562	blood:	n/a	n/a
14	CTBP2	chr2:48757318-48757798	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr2:48772268-48772839	K562	blood:	n/a	n/a
16	CTCF	chr2:48793750-48793982	MCF-7	breast:	n/a	n/a
17	CTCF	chr2:48757500-48757650	BJ	skin:	n/a	n/a
18	CTCF	chr2:48757502-48757568	GM12878	blood:	n/a	n/a
19	CTCF	chr2:48793780-48793930	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr2:48757460-48757610	GM12875	blood:	n/a	n/a
21	CTCF	chr2:48757280-48757430	AG04449	skin:	n/a	n/a
22	CTCF	chr2:48793695-48794068	K562	blood:	n/a	n/a
23	CTCF	chr2:48757400-48757550	NHLF	lung:	n/a	n/a
24	CTCF	chr2:48757520-48757670	GM12873	blood:	n/a	n/a
25	CTCF	chr2:48793825-48793897	GM10266	blood:	n/a	n/a
26	CTCF	chr2:48772500-48772650	HepG2	liver:	n/a	n/a
27	CTCF	chr2:48793782-48793979	A549	lung:	n/a	n/a
28	CTCF	chr2:48793780-48793930	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr2:48793704-48793931	A549	lung:	n/a	n/a
30	CTCF	chr2:48793760-48793910	HBMEC	blood vessel:	n/a	n/a
31	CTCF	chr2:48772500-48772650	AG09309	skin:	n/a	n/a
32	CTCF	chr2:48757440-48757590	GM12867	blood:	n/a	n/a
33	CTCF	chr2:48757400-48757550	GM12869	blood:	n/a	n/a
34	CTCF	chr2:48793800-48793950	HCFaa	heart:	n/a	n/a
35	CTCF	chr2:48757480-48757630	WERI-Rb-1	eye:	n/a	n/a
36	CTCF	chr2:48757380-48757530	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr2:48793820-48793970	HVMF	connective:	n/a	n/a
38	CTCF	chr2:48757460-48757610	GM12878	blood:	n/a	n/a
39	CTCF	chr2:48756500-48756650	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr2:48757419-48757779	K562	blood:	n/a	n/a
41	CTCF	chr2:48757440-48757590	WI-38	lung:	n/a	n/a
42	CTCF	chr2:48793800-48793950	SAEC	small airway:	n/a	n/a
43	CTCF	chr2:48793800-48793950	AoAF	blood vessel:	n/a	n/a
44	CTCF	chr2:48757460-48757610	GM12874	blood:	n/a	n/a
45	CTCF	chr2:48757400-48757550	GM12871	blood:	n/a	n/a
46	CTCF	chr2:48757397-48757612	GM12878	blood:	n/a	n/a
47	CTCF	chr2:48757300-48757450	HAc	cerebellar:	n/a	n/a
48	CTCF	chr2:48772460-48772610	GM12865	blood:	n/a	n/a
49	CTCF	chr2:48757460-48757610	GM06990	blood:	n/a	n/a
50	CTCF	chr2:48772560-48772710	NHLF	lung:	n/a	n/a

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:48757477-48757527	HEEpiC	esophagus:	n/a
2	chr2:48757612-48757662	PrEC	prostate:	n/a
3	chr2:48757477-48757527	HEEpiC	esophagus:	n/a
4	chr2:48757612-48757662	PrEC	prostate:	n/a
5	chr2:48755207-48755257	NT2-D1	testis:	n/a
6	chr2:48757722-48757772	U87	brain:	n/a
7	chr2:48756079-48756129	HRE	kidney:	n/a
8	chr2:48757722-48757772	HRCEpiC	kidney:	n/a
9	chr2:48795067-48795117	SK-N-MC	brain:	n/a
10	chr2:48759821-48759871	SAEC	small airway:	n/a
11	chr2:48757694-48757744	BJ	skin:	n/a
12	chr2:48796151-48796201	K562	blood:	n/a
13	chr2:48756079-48756129	SK-N-SH	brain:	n/a
14	chr2:48757722-48757772	CMK	blood:	n/a
15	chr2:48787750-48787800	MCF-7	breast:	n/a
16	chr2:48759821-48759871	A549	lung:	n/a
17	chr2:48773405-48773455	NB4	blood:	n/a
18	chr2:48757477-48757527	MCF10A-Er-Src	breast:	n/a
19	chr2:48756994-48757044	HUVEC	blood vessel:	n/a
20	chr2:48773405-48773455	A549	lung:	n/a
21	chr2:48773405-48773455	AG10803	skin:	n/a
22	chr2:48757694-48757744	GM12892	blood:	n/a
23	chr2:48795994-48796044	AG04450	lung:	fetal
24	chr2:48755207-48755257	MCF-7	breast:	n/a
25	chr2:48757722-48757772	Caco-2	colon:	n/a
26	chr2:48757694-48757744	SKMC	muscle:	n/a
27	chr2:48756994-48757044	LNCaP	prostate:	n/a
28	chr2:48787750-48787800	K562	blood:	n/a
29	chr2:48757694-48757744	H1-hESC	embryonic stem cell:	embryo
30	chr2:48796151-48796201	AG10803	skin:	n/a
31	chr2:48759821-48759871	SK-N-SH	brain:	n/a
32	chr2:48795994-48796044	PANC-1	pancreas:	n/a
33	chr2:48757477-48757527	AG09319	gingival:	n/a
34	chr2:48795067-48795117	NHDF-neo	bronchial:	n/a
35	chr2:48796151-48796201	H1-hESC	embryonic stem cell:	embryo
36	chr2:48757612-48757662	BJ	skin:	n/a
37	chr2:48796151-48796201	SK-N-MC	brain:	n/a
38	chr2:48755207-48755257	RPTEC	kidney:	n/a
39	chr2:48757694-48757744	SK-N-SH	brain:	n/a
40	chr2:48756079-48756129	U87	brain:	n/a
41	chr2:48757612-48757662	SKMC	muscle:	n/a
42	chr2:48795994-48796044	SKMC	muscle:	n/a
43	chr2:48757722-48757772	HRPEpiC	eye:	n/a
44	chr2:48795067-48795117	Caco-2	colon:	n/a
45	chr2:48796151-48796201	PANC-1	pancreas:	n/a
46	chr2:48757722-48757772	RPTEC	kidney:	n/a
47	chr2:48787750-48787800	NB4	blood:	n/a
48	chr2:48759821-48759871	GM12892	blood:	n/a
49	chr2:48757694-48757744	T-47D	breast:	n/a
50	chr2:48787750-48787800	HepG2	liver:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:48773822..48775873-chr2:48777456..48780403,2	K562	blood:
2	chr2:48736001..48737694-chr2:48761849..48763956,2	K562	blood:
3	chr2:48793739..48794249-chr2:48815968..48816646,2	MCF-7	breast:
4	chr2:48761161..48764089-chr2:48767205..48768713,2	K562	blood:
5	chr2:48773207..48775322-chr2:48777456..48778973,2	K562	blood:
6	chr2:48788958..48790786-chr2:48792304..48795204,2	K562	blood:
7	chr2:48764687..48766642-chr2:48801802..48803658,2	MCF-7	breast:
8	chr2:48767423..48771041-chr2:48771579..48775293,4	K562	blood:
9	chr2:48793384..48794350-chr2:48816086..48816820,5	MCF-7	breast:
10	chr2:48761161..48764089-chr2:48767205..48768713,2	K562	blood:
11	chr2:48773822..48775873-chr2:48777456..48780403,2	K562	blood:
12	chr2:48752578..48754982-chr2:48756156..48759647,3	K562	blood:
13	chr2:48772382..48773067-chr2:48815926..48816979,3	K562	blood:
14	chr2:48788958..48790786-chr2:48792304..48795204,2	K562	blood:
15	chr2:48772065..48772805-chr2:50719351..50720113,2	K562	blood:
16	chr2:48676760..48679121-chr2:48771521..48774088,2	K562	blood:
17	chr2:48767423..48771041-chr2:48771579..48775293,4	K562	blood:
18	chr2:48773207..48775322-chr2:48777456..48778973,2	K562	blood:
19	chr2:48752578..48754982-chr2:48756701..48759647,2	K562	blood:
20	chr2:48793447..48794436-chr2:48816095..48816687,2	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STON1-1	chr2:48774439-48775286	NONHSAT070624
2	lnc-STON1-1	chr2:48757309-48757355	NONHSAT070624
3	lnc-STON1-1	chr2:48757019-48759056	NONHSAT070625
4	lnc-STON1-1	chr2:48771035-48771088	NONHSAT070624
5	lnc-STON1-1	chr2:48786942-48787278	NONHSAT070624
6	lnc-STON1-1	chr2:48757737-48757968	NONHSAT070624
7	lnc-STON1-1	chr2:48756522-48756726	NONHSAT070625
8	lnc-STON1-1	chr2:48752541-48752576	NONHSAT070624
9	lnc-STON1-1	chr2:48761886-48762196	NONHSAT070624
10	lnc-STON1-1	chr2:48761057-48761602	NONHSAT070624
11	lnc-STON1-1	chr2:48757019-48757187	NONHSAT070624
12	lnc-STON1-1	chr2:48752494-48752520	NONHSAT070624

No data

Variant related genes	Relation type
STON1	TF binding region
STON1-GTF2A1L	TF binding region
STON1	CpG island
STON1-GTF2A1L	CpG island
ENSG00000243244	chromatin interactions
ENSG00000068781	chromatin interactions

Extended variants
information (count: 1947 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1947 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117381527	chr2:48752234-48752235	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556013370	chr2:48752244-48752245	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs62135177	chr2:48752248-48752249	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150681085	chr2:48752261-48752262	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181334764	chr2:48752350-48752351	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186510525	chr2:48752352-48752353	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541733698	chr2:48752374-48752375	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559519416	chr2:48752380-48752381	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557980870	chr2:48752465-48752466	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541828080	chr2:48752473-48752474	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563819045	chr2:48752482-48752483	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530871753	chr2:48752522-48752523	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543216040	chr2:48752551-48752552	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs564733849	chr2:48752553-48752554	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs373440968	chr2:48752611-48752612	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs547648013	chr2:48752623-48752624	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs565810220	chr2:48752644-48752645	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs557358187	chr2:48752656-48752657	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs529708913	chr2:48752679-48752680	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs539796228	chr2:48752701-48752702	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs140011362	chr2:48752707-48752708	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs191666704	chr2:48752751-48752752	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs149868779	chr2:48752761-48752762	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs56167939	chr2:48752770-48752771	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs55984156	chr2:48752772-48752773	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs71399060	chr2:48752784-48752785	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs373615961	chr2:48752800-48752801	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs58142474	chr2:48752807-48752808	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs559237543	chr2:48752820-48752821	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs139827508	chr2:48752824-48752825	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs566637715	chr2:48752856-48752857	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs143266460	chr2:48752878-48752879	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs76910463	chr2:48752910-48752911	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs574996567	chr2:48752919-48752920	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs542215503	chr2:48752920-48752921	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs62135178	chr2:48752936-48752937	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs181732588	chr2:48752949-48752950	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs375680279	chr2:48752965-48752966	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs560847042	chr2:48752967-48752968	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs575380359	chr2:48752970-48752971	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs111440101	chr2:48752996-48752997	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs370534195	chr2:48752997-48752998	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs564766077	chr2:48753001-48753002	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs13018049	chr2:48753009-48753010	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs532197322	chr2:48753014-48753015	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs146706249	chr2:48753039-48753040	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs139259123	chr2:48753040-48753041	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs187263803	chr2:48753059-48753060	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs548216710	chr2:48753063-48753064	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs144097926	chr2:48753080-48753081	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:1306 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48694200-48753000	Weak transcription	Psoas Muscle	Psoas
2	chr2:48709400-48755200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:48726400-48756800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:48728200-48756800	Weak transcription	HMEC	breast
5	chr2:48736000-48752800	Weak transcription	Small Intestine	intestine
6	chr2:48736400-48752600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:48736400-48753400	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:48736400-48754600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:48737800-48756200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:48738000-48755400	Weak transcription	HUVEC	blood vessel
11	chr2:48738000-48756800	Weak transcription	NH-A	brain
12	chr2:48738200-48753800	Weak transcription	Hela-S3	cervix
13	chr2:48740000-48754400	Weak transcription	NHLF	lung
14	chr2:48740000-48756000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:48740000-48757600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:48741000-48753000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:48742400-48756200	Weak transcription	NHDF-Ad	bronchial
18	chr2:48743000-48754600	Weak transcription	Fetal Kidney	kidney
19	chr2:48743200-48756000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:48743200-48756200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:48743200-48756800	Weak transcription	Stomach Mucosa	stomach
22	chr2:48743400-48753000	Weak transcription	Fetal Heart	heart
23	chr2:48743400-48753000	Weak transcription	Right Ventricle	heart
24	chr2:48743400-48756200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:48743400-48756400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:48743400-48757400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:48743400-48757400	Weak transcription	Gastric	stomach
28	chr2:48743800-48752800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:48744000-48752400	Weak transcription	K562	blood
30	chr2:48744000-48756600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:48744000-48756800	Weak transcription	Colonic Mucosa	Colon
32	chr2:48744600-48752800	Weak transcription	Pancreas	Pancrea
33	chr2:48744600-48753200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:48744600-48754800	Weak transcription	HSMMtube	muscle
35	chr2:48744600-48756400	Weak transcription	Brain Germinal Matrix	brain
36	chr2:48744800-48755800	Weak transcription	HepG2	liver
37	chr2:48744800-48756200	Weak transcription	Fetal Brain Female	brain
38	chr2:48745200-48756200	Weak transcription	Esophagus	oesophagus
39	chr2:48745600-48752800	Weak transcription	Left Ventricle	heart
40	chr2:48745600-48753000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:48745600-48755200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:48745600-48756800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:48745800-48756400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr2:48745800-48756400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:48745800-48756400	Weak transcription	Brain Angular Gyrus	brain
46	chr2:48745800-48756400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:48746000-48752800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr2:48746000-48753000	Weak transcription	Aorta	Aorta
49	chr2:48746000-48754200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:48746000-48754600	Weak transcription	Brain Substantia Nigra	brain

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