Variant report

Variant	nsv519217
Chromosome Location	chr2:47229953-47232495
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:89)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr2:47230174-47230491	GM12878	blood:	n/a	n/a
2	CTCF	chr2:47230400-47230550	WERI-Rb-1	eye:	n/a	n/a
3	CTCF	chr2:47230340-47230490	BE2_C	brain:	n/a	n/a
4	CTCF	chr2:47230360-47230510	BE2_C	brain:	n/a	n/a
5	CTCF	chr2:47230360-47230510	SK-N-SH_RA	brain:	n/a	n/a
6	CTCF	chr2:47230340-47230490	SAEC	small airway:	n/a	n/a
7	CTCF	chr2:47230460-47230610	HCPEpiC	choroid plexus:	n/a	n/a
8	CTCF	chr2:47230380-47230530	HMEC	breast:	n/a	n/a
9	CTCF	chr2:47230280-47230430	NHEK	skin:	n/a	chr2:47230325-47230333
10	CTCF	chr2:47230421-47230426	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr2:47230500-47230650	HRE	kidney:	n/a	n/a
12	CTCF	chr2:47230320-47230470	SK-N-SH_RA	brain:	n/a	chr2:47230325-47230333
13	CTCF	chr2:47230380-47230530	SAEC	small airway:	n/a	n/a
14	CTCF	chr2:47232080-47232230	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr2:47230440-47230590	HRE	kidney:	n/a	n/a
16	CTCF	chr2:47230418-47230520	NHEK	skin:	n/a	n/a
17	CTCF	chr2:47231250-47231641	K562	blood:	n/a	n/a
18	CTCF	chr2:47230288-47230562	HepG2	liver:	n/a	chr2:47230325-47230333
19	CTCF	chr2:47231341-47231538	K562	blood:	n/a	n/a
20	CTCF	chr2:47230300-47230450	HepG2	liver:	n/a	chr2:47230325-47230333
21	EGR1	chr2:47231013-47231249	K562	blood:	n/a	n/a
22	EGR1	chr2:47231006-47231221	K562	blood:	n/a	n/a
23	ELF1	chr2:47231310-47231527	K562	blood:	n/a	n/a
24	EP300	chr2:47229756-47230224	SK-N-SH_RA	brain:	n/a	n/a
25	FOSL1	chr2:47231173-47231607	K562	blood:	n/a	chr2:47231412-47231421 chr2:47231406-47231415 chr2:47231403-47231414
26	JUN	chr2:47231304-47231833	K562	blood:	n/a	chr2:47231412-47231421 chr2:47231406-47231415 chr2:47231403-47231414
27	JUND	chr2:47231221-47231594	K562	blood:	n/a	chr2:47231412-47231421 chr2:47231406-47231415 chr2:47231403-47231414
28	JUND	chr2:47231145-47231324	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr2:47230406-47230424	NB4	blood:	n/a	n/a
30	MAZ	chr2:47231363-47231574	Hela-S3	cervix:	n/a	n/a
31	MAZ	chr2:47231360-47231580	K562	blood:	n/a	n/a
32	MXI1	chr2:47228934-47230772	SK-N-SH	brain:	n/a	chr2:47229899-47229914 chr2:47229897-47229912
33	NFATC1	chr2:47230202-47230766	GM12878	blood:	n/a	n/a
34	NFATC1	chr2:47230211-47230676	GM12878	blood:	n/a	n/a
35	NR2F2	chr2:47231093-47231683	K562	blood:	n/a	n/a
36	NRF1	chr2:47230607-47230638	GM12878	blood:	n/a	n/a
37	POLR2A	chr2:47229969-47230104	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr2:47230161-47230695	GM12878	blood:	n/a	n/a
39	POLR2A	chr2:47229342-47230632	A549	lung:	n/a	n/a
40	POLR2A	chr2:47231206-47231611	GM12878	blood:	n/a	n/a
41	POLR2A	chr2:47232335-47232472	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr2:47230596-47230692	K562	blood:	n/a	n/a
43	POLR2A	chr2:47229566-47230100	GM12892	blood:	n/a	n/a
44	POLR2A	chr2:47230203-47230441	HepG2	liver:	n/a	n/a
45	POLR2A	chr2:47229887-47230372	H1-neurons	neurons:	n/a	n/a
46	POLR2A	chr2:47230333-47230617	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr2:47230486-47230502	HepG2	liver:	n/a	n/a
48	POLR2A	chr2:47230054-47230133	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr2:47231232-47231603	HCT-116	colon:	n/a	n/a
50	POLR2A	chr2:47231207-47231646	HCT-116	colon:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:47230407-47230457	NH-A	brain:	n/a
2	chr2:47230407-47230457	CMK	blood:	n/a
3	chr2:47230407-47230457	HRCEpiC	kidney:	n/a
4	chr2:47230407-47230457	NHDF-neo	bronchial:	n/a
5	chr2:47230407-47230457	BJ	skin:	n/a
6	chr2:47230407-47230457	GM12891	blood:	n/a
7	chr2:47230407-47230457	HCM	heart:	n/a
8	chr2:47230407-47230457	NHBE	bronchial:	n/a
9	chr2:47230407-47230457	ECC-1	luminal epithelium:	n/a
10	chr2:47230407-47230457	NT2-D1	testis:	n/a
11	chr2:47230407-47230457	AG04449	skin:	fetal
12	chr2:47230407-47230457	Hela-S3	cervix:	n/a
13	chr2:47230407-47230457	BE2_C	brain:	n/a
14	chr2:47230407-47230457	U87	brain:	n/a
15	chr2:47230407-47230457	GM12892	blood:	n/a
16	chr2:47230407-47230457	AG10803	skin:	n/a
17	chr2:47230407-47230457	PANC-1	pancreas:	n/a
18	chr2:47230407-47230457	HCT-116	colon:	n/a
19	chr2:47230407-47230457	HRE	kidney:	n/a
20	chr2:47230407-47230457	HEK293	kidney:	embryo
21	chr2:47230407-47230457	AG09319	gingival:	n/a
22	chr2:47230407-47230457	AoSMC	blood vessel:	n/a
23	chr2:47230407-47230457	AG09309	skin:	n/a
24	chr2:47230407-47230457	RPTEC	kidney:	n/a
25	chr2:47230407-47230457	IMR90	lung:	fetal
26	chr2:47230407-47230457	MCF10A-Er-Src	breast:	n/a
27	chr2:47230407-47230457	MCF-7	breast:	n/a
28	chr2:47230407-47230457	HNPCEpiC	eye:	n/a
29	chr2:47230407-47230457	GM12878	blood:	n/a
30	chr2:47230407-47230457	NB4	blood:	n/a
31	chr2:47230407-47230457	Jurkat	blood:	n/a
32	chr2:47230407-47230457	HPAEpiC	pulmonary alveolar:	n/a
33	chr2:47230407-47230457	SKMC	muscle:	n/a
34	chr2:47230407-47230457	SK-N-MC	brain:	n/a
35	chr2:47230407-47230457	ProgFib	skin:	n/a
36	chr2:47230407-47230457	SAEC	small airway:	n/a
37	chr2:47230407-47230457	Hepatocyte	liver:	n/a
38	chr2:47230407-47230457	H1-hESC	embryonic stem cell:	embryo
39	chr2:47230407-47230457	HAEpiC	amniotic membrane:	n/a
40	chr2:47230407-47230457	GM19239	blood:	n/a
41	chr2:47230407-47230457	T-47D	breast:	n/a
42	chr2:47230407-47230457	HepG2	liver:	n/a
43	chr2:47230407-47230457	HEEpiC	esophagus:	n/a
44	chr2:47230407-47230457	HMEC	breast:	n/a
45	chr2:47230407-47230457	HCPEpiC	choroid plexus:	n/a
46	chr2:47230407-47230457	AG04450	lung:	fetal
47	chr2:47230407-47230457	ovcar-3	ovarian:	n/a
48	chr2:47230407-47230457	HL-60	blood:	n/a
49	chr2:47230407-47230457	HUVEC	blood vessel:	n/a
50	chr2:47230407-47230457	PrEC	prostate:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47229922..47232405-chr2:47395571..47398538,2	K562	blood:
2	chr2:47229727..47232211-chr2:47401787..47404061,4	MCF-7	breast:
3	chr2:47227228..47229377-chr2:47229384..47232229,2	K562	blood:
4	chr2:47230013..47232096-chr2:47242841..47244981,3	K562	blood:
5	chr2:47230553..47232834-chr2:47238826..47240399,2	MCF-7	breast:
6	chr2:47229613..47231414-chr2:47402235..47404640,2	K562	blood:
7	chr2:47211854..47216258-chr2:47229137..47232912,5	K562	blood:

No data

Variant related genes	Relation type
TTC7A	TF binding region
TTC7A	CpG island
ENSG00000143933	chromatin interactions

Extended variants
information (count: 131 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17036039	chr2:47229953-47229954	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188661732	chr2:47229988-47229989	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs373755739	chr2:47230025-47230026	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs555251963	chr2:47230064-47230065	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs560388989	chr2:47230087-47230088	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs527746030	chr2:47230093-47230094	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs573817023	chr2:47230103-47230104	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs112072295	chr2:47230109-47230110	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs201758168	chr2:47230121-47230122	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs531768472	chr2:47230136-47230137	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs188286347	chr2:47230159-47230160	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs550096386	chr2:47230163-47230164	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs550084546	chr2:47230188-47230189	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs571581010	chr2:47230190-47230191	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs539065507	chr2:47230194-47230195	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs551315338	chr2:47230200-47230201	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs77109797	chr2:47230267-47230268	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs533933957	chr2:47230273-47230274	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs555477997	chr2:47230277-47230278	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs112287576	chr2:47230327-47230328	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs55736783	chr2:47230329-47230330	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs573913290	chr2:47230341-47230342	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs191880676	chr2:47230351-47230352	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs556522319	chr2:47230384-47230385	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs544612297	chr2:47230387-47230388	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs545085000	chr2:47230401-47230402	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs560576371	chr2:47230408-47230409	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs112702943	chr2:47230425-47230426	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs572348042	chr2:47230438-47230439	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs543136789	chr2:47230476-47230477	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs368381537	chr2:47230486-47230487	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs13413587	chr2:47230521-47230522	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs528802668	chr2:47230560-47230561	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs547298504	chr2:47230566-47230567	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs139952270	chr2:47230593-47230594	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs549060623	chr2:47230606-47230607	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs374106877	chr2:47230609-47230610	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs565245860	chr2:47230614-47230615	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs182742942	chr2:47230631-47230632	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs139010102	chr2:47230648-47230649	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs566489449	chr2:47230657-47230658	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs533537362	chr2:47230671-47230672	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs549113203	chr2:47230695-47230696	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs386645740	chr2:47230730-47230731	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs13425630	chr2:47230731-47230732	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs556357087	chr2:47230734-47230735	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs58674434	chr2:47230755-47230756	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs538971298	chr2:47230758-47230759	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs187164169	chr2:47230798-47230799	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs72806573	chr2:47230802-47230803	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	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
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47213600-47256400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:47214000-47262000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:47214200-47231000	Weak transcription	K562	blood
4	chr2:47214200-47235400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:47214600-47242000	Strong transcription	Thymus	Thymus
6	chr2:47214800-47230400	Strong transcription	Osteobl	bone
7	chr2:47214800-47231200	Weak transcription	HUVEC	blood vessel
8	chr2:47214800-47233400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:47214800-47237200	Strong transcription	Primary T cells from cord blood	blood
10	chr2:47214800-47239200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:47215200-47243800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:47215400-47235800	Strong transcription	Primary B cells from cord blood	blood
13	chr2:47215600-47245200	Strong transcription	Primary B cells from peripheral blood	blood
14	chr2:47216400-47241600	Strong transcription	Fetal Thymus	thymus
15	chr2:47219600-47235400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:47222000-47260600	Weak transcription	Small Intestine	intestine
17	chr2:47223200-47235800	Weak transcription	Fetal Kidney	kidney
18	chr2:47223400-47238400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:47223400-47239400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:47223600-47235600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:47223600-47239400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:47223600-47246800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:47223800-47234200	Weak transcription	Psoas Muscle	Psoas
24	chr2:47224200-47233200	Weak transcription	GM12878-XiMat	blood
25	chr2:47224800-47238400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:47226600-47233000	Weak transcription	Liver	Liver
27	chr2:47226800-47230000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:47226800-47230000	Weak transcription	HMEC	breast
29	chr2:47226800-47231000	Weak transcription	Aorta	Aorta
30	chr2:47226800-47232000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:47226800-47232600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr2:47227000-47230000	Enhancers	Colon Smooth Muscle	Colon
33	chr2:47227000-47232800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:47227200-47230200	Weak transcription	Fetal Intestine Large	intestine
35	chr2:47227200-47233000	Enhancers	Brain Substantia Nigra	brain
36	chr2:47227400-47232000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:47227400-47232200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr2:47227400-47232400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:47227400-47232800	Enhancers	Brain Anterior Caudate	brain
40	chr2:47227400-47233000	Enhancers	Brain Hippocampus Middle	brain
41	chr2:47227400-47233200	Enhancers	Brain Angular Gyrus	brain
42	chr2:47227400-47234000	Enhancers	Brain Cingulate Gyrus	brain
43	chr2:47227600-47230000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:47227600-47230000	Enhancers	Fetal Muscle Trunk	muscle
45	chr2:47227800-47230000	Enhancers	Stomach Smooth Muscle	stomach
46	chr2:47227800-47230200	Weak transcription	Pancreas	Pancrea
47	chr2:47227800-47230200	Weak transcription	Dnd41	blood
48	chr2:47228000-47230200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:47228000-47233000	Enhancers	Adipose Nuclei	Adipose
50	chr2:47228200-47230600	Weak transcription	Muscle Satellite Cultured Cells	--

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