Variant report

Variant	nsv997661
Chromosome Location	chr1:246482924-246702012
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2577)
CpG islands
(count:1954)
Chromatin interactive
region (count:95)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2577 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:246536567-246536576	K562	blood:	n/a	n/a
2	ARID3A	chr1:246614088-246614383	HepG2	liver:	n/a	chr1:246614110-246614126
3	ARID3A	chr1:246591789-246592119	K562	blood:	n/a	n/a
4	ARID3A	chr1:246587912-246588291	K562	blood:	n/a	n/a
5	ARID3A	chr1:246495436-246495765	K562	blood:	n/a	n/a
6	ARID3A	chr1:246514223-246514241	K562	blood:	n/a	n/a
7	ARID3A	chr1:246660581-246660971	HepG2	liver:	n/a	n/a
8	ARID3A	chr1:246614048-246614417	K562	blood:	n/a	chr1:246614110-246614126
9	ARID3A	chr1:246660564-246660991	K562	blood:	n/a	n/a
10	ARID3A	chr1:246670516-246670577	HepG2	liver:	n/a	n/a
11	ATF1	chr1:246507966-246508030	K562	blood:	n/a	n/a
12	ATF1	chr1:246501515-246501774	K562	blood:	n/a	n/a
13	ATF1	chr1:246589653-246589853	K562	blood:	n/a	n/a
14	ATF1	chr1:246514087-246514345	K562	blood:	n/a	n/a
15	ATF1	chr1:246495450-246495686	K562	blood:	n/a	n/a
16	ATF1	chr1:246588435-246588914	K562	blood:	n/a	n/a
17	ATF1	chr1:246591887-246592268	K562	blood:	n/a	n/a
18	ATF1	chr1:246561390-246561724	K562	blood:	n/a	n/a
19	ATF2	chr1:246492949-246493723	GM12878	blood:	n/a	n/a
20	ATF2	chr1:246598868-246599249	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr1:246493100-246493631	GM12878	blood:	n/a	n/a
22	ATF2	chr1:246501723-246502313	GM12878	blood:	n/a	n/a
23	BACH1	chr1:246537445-246537545	K562	blood:	n/a	n/a
24	BACH1	chr1:246606450-246606451	K562	blood:	n/a	n/a
25	BACH1	chr1:246669921-246670862	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr1:246591894-246592194	K562	blood:	n/a	n/a
27	BATF	chr1:246671669-246671904	GM12878	blood:	n/a	n/a
28	BATF	chr1:246501825-246502142	GM12878	blood:	n/a	n/a
29	BATF	chr1:246591880-246592213	GM12878	blood:	n/a	n/a
30	BATF	chr1:246591816-246592158	GM12878	blood:	n/a	n/a
31	BATF	chr1:246493105-246493597	GM12878	blood:	n/a	chr1:246493346-246493357
32	BATF	chr1:246648136-246648477	GM12878	blood:	n/a	n/a
33	BATF	chr1:246647202-246648395	GM12878	blood:	n/a	n/a
34	BATF	chr1:246493051-246493632	GM12878	blood:	n/a	chr1:246493346-246493357
35	BCL11A	chr1:246591893-246592220	GM12878	blood:	n/a	n/a
36	BCL11A	chr1:246493003-246493636	GM12878	blood:	n/a	chr1:246493592-246493599 chr1:246493349-246493358
37	BCL11A	chr1:246493088-246493638	GM12878	blood:	n/a	chr1:246493592-246493599 chr1:246493349-246493358
38	BCL11A	chr1:246647613-246648442	GM12878	blood:	n/a	n/a
39	BCL11A	chr1:246591909-246592164	GM12878	blood:	n/a	n/a
40	BCL3	chr1:246493055-246493585	GM12878	blood:	n/a	chr1:246493349-246493358
41	BCL3	chr1:246500317-246500521	GM12878	blood:	n/a	n/a
42	BCLAF1	chr1:246493053-246493656	GM12878	blood:	n/a	chr1:246493592-246493599 chr1:246493349-246493358
43	BCLAF1	chr1:246660540-246660998	GM12878	blood:	n/a	n/a
44	BCLAF1	chr1:246493000-246493668	GM12878	blood:	n/a	chr1:246493592-246493599 chr1:246493349-246493358
45	BHLHE40	chr1:246588462-246588796	K562	blood:	n/a	n/a
46	BHLHE40	chr1:246580932-246580933	K562	blood:	n/a	n/a
47	BHLHE40	chr1:246670485-246670836	A549	lung:	n/a	chr1:246670628-246670644
48	BHLHE40	chr1:246670007-246670896	GM12878	blood:	n/a	chr1:246670272-246670288 chr1:246670628-246670644 chr1:246670269-246670285
49	BHLHE40	chr1:246591822-246592280	K562	blood:	n/a	n/a
50	BHLHE40	chr1:246501857-246502115	GM12878	blood:	n/a	n/a

(count:1954 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:246670898-246670948	ovcar-3	ovarian:	n/a
2	chr1:246622662-246622712	NH-A	brain:	n/a
3	chr1:246670898-246670948	ovcar-3	ovarian:	n/a
4	chr1:246622662-246622712	NH-A	brain:	n/a
5	chr1:246518620-246518670	HRPEpiC	eye:	n/a
6	chr1:246582116-246582166	HUVEC	blood vessel:	n/a
7	chr1:246668601-246668651	HepG2	liver:	n/a
8	chr1:246622633-246622683	Hepatocyte	liver:	n/a
9	chr1:246670800-246670850	SK-N-SH	brain:	n/a
10	chr1:246670940-246670990	PrEC	prostate:	n/a
11	chr1:246684329-246684379	HIPEpiC	eye:	n/a
12	chr1:246613311-246613361	SAEC	small airway:	n/a
13	chr1:246582116-246582166	LNCaP	prostate:	n/a
14	chr1:246670199-246670249	GM19239	blood:	n/a
15	chr1:246672913-246672963	HepG2	liver:	n/a
16	chr1:246622633-246622683	MCF-7	breast:	n/a
17	chr1:246668601-246668651	Hepatocyte	liver:	n/a
18	chr1:246622633-246622683	HRCEpiC	kidney:	n/a
19	chr1:246518671-246518721	Jurkat	blood:	n/a
20	chr1:246670459-246670509	GM12878	blood:	n/a
21	chr1:246670800-246670850	AG09319	gingival:	n/a
22	chr1:246613311-246613361	CMK	blood:	n/a
23	chr1:246581705-246581755	AG09309	skin:	n/a
24	chr1:246670217-246670267	NHDF-neo	bronchial:	n/a
25	chr1:246622662-246622712	GM12878	blood:	n/a
26	chr1:246518671-246518721	HNPCEpiC	eye:	n/a
27	chr1:246670728-246670778	HL-60	blood:	n/a
28	chr1:246672913-246672963	IMR90	lung:	fetal
29	chr1:246671665-246671715	ECC-1	luminal epithelium:	n/a
30	chr1:246669975-246670025	HPAEpiC	pulmonary alveolar:	n/a
31	chr1:246582071-246582121	NT2-D1	testis:	n/a
32	chr1:246670459-246670509	HCF	heart:	n/a
33	chr1:246622483-246622533	Hepatocyte	liver:	n/a
34	chr1:246671665-246671715	HepG2	liver:	n/a
35	chr1:246622483-246622533	K562	blood:	n/a
36	chr1:246580717-246580767	MCF10A-Er-Src	breast:	n/a
37	chr1:246670726-246670776	HCPEpiC	choroid plexus:	n/a
38	chr1:246582071-246582121	K562	blood:	n/a
39	chr1:246613311-246613361	Caco-2	colon:	n/a
40	chr1:246684113-246684163	PFSK-1	brain:	n/a
41	chr1:246671665-246671715	SK-N-SH	brain:	n/a
42	chr1:246518620-246518670	GM12891	blood:	n/a
43	chr1:246664003-246664053	A549	lung:	n/a
44	chr1:246670800-246670850	NT2-D1	testis:	n/a
45	chr1:246622483-246622533	HepG2	liver:	n/a
46	chr1:246613311-246613361	AG04449	skin:	fetal
47	chr1:246670940-246670990	SK-N-SH	brain:	n/a
48	chr1:246664003-246664053	NHBE	bronchial:	n/a
49	chr1:246670217-246670267	Caco-2	colon:	n/a
50	chr1:246581705-246581755	ECC-1	luminal epithelium:	n/a

(count:95 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:246497788..246499304-chr1:246499416..246501844,2	MCF-7	breast:
2	chr1:246544799..246546719-chr1:246549229..246551594,2	K562	blood:
3	chr1:246521302..246522820-chr1:246527857..246530408,2	K562	blood:
4	chr1:246660320..246661257-chr1:246916886..246917830,4	K562	blood:
5	chr1:246670144..246671144-chr11:9335985..9336628,2	HCT-116	colon:
6	chr1:246635326..246636965-chr1:246661670..246663284,2	K562	blood:
7	chr1:246660669..246662784-chr1:246700415..246702206,2	MCF-7	breast:
8	chr1:246660669..246662784-chr1:246700415..246702206,2	MCF-7	breast:
9	chr1:246694155..246697194-chr1:246698575..246701434,3	MCF-7	breast:
10	chr1:246671783..246672632-chr1:246690944..246691587,2	MCF-7	breast:
11	chr1:246587797..246590207-chr1:246590613..246593809,3	K562	blood:
12	chr1:246643346..246644875-chr1:246651223..246652948,2	K562	blood:
13	chr1:246601398..246602968-chr1:246608645..246610386,2	K562	blood:
14	chr1:246521302..246522820-chr1:246527857..246530408,2	K562	blood:
15	chr1:246685591..246688881-chr1:246727054..246730014,3	K562	blood:
16	chr1:246594102..246596959-chr1:246598193..246600594,2	K562	blood:
17	chr1:246582285..246585491-chr1:246585683..246590369,6	K562	blood:
18	chr1:246540059..246542497-chr1:246543085..246545736,2	K562	blood:
19	chr1:246694155..246697194-chr1:246698575..246701434,3	MCF-7	breast:
20	chr1:246660387..246663593-chr1:246664027..246666681,4	MCF-7	breast:
21	chr1:246513035..246514840-chr1:246515014..246517355,2	K562	blood:
22	chr1:246553361..246555954-chr1:246559201..246561583,2	K562	blood:
23	chr1:246489256..246490981-chr1:246569694..246571729,2	K562	blood:
24	chr1:246513912..246515911-chr1:246530351..246532425,2	K562	blood:
25	chr1:246697803..246699754-chr1:246703795..246706062,2	K562	blood:
26	chr1:246546236..246548052-chr1:246554234..246556624,2	MCF-7	breast:
27	chr1:246489256..246490981-chr1:246569694..246571729,2	K562	blood:
28	chr1:246482242..246483844-chr1:246486769..246488361,2	MCF-7	breast:
29	chr1:246680075..246681714-chr1:246684033..246686969,2	K562	blood:
30	chr1:246606314..246608137-chr1:246622294..246625192,2	K562	blood:
31	chr1:246540059..246542497-chr1:246543085..246545736,2	K562	blood:
32	chr1:246175654..246176170-chr1:246655570..246656125,2	K562	blood:
33	chr1:246661655..246664160-chr1:246664640..246667505,3	K562	blood:
34	chr1:246576999..246579498-chr1:246580594..246582855,2	K562	blood:
35	chr1:246544799..246546719-chr1:246549229..246551594,2	K562	blood:
36	chr1:246513912..246515911-chr1:246530351..246532425,2	K562	blood:
37	chr1:246643346..246644875-chr1:246651223..246652948,2	K562	blood:
38	chr1:246660382..246660965-chr1:246695565..246696089,2	MCF-7	breast:
39	chr1:246660152..246661220-chr1:246692463..246693268,3	MCF-7	breast:
40	chr1:246579015..246582043-chr1:246583981..246587038,3	K562	blood:
41	chr1:246660548..246661305-chr1:246859828..246860357,2	K562	blood:
42	chr1:246658777..246661380-chr1:246664894..246666631,2	K562	blood:
43	chr1:246669150..246672151-chr1:246672470..246677945,5	K562	blood:
44	chr1:246660290..246661312-chr1:246861799..246863185,8	K562	blood:
45	chr1:246546236..246548052-chr1:246554234..246556624,2	MCF-7	breast:
46	chr1:246594102..246596959-chr1:246598193..246600594,2	K562	blood:
47	chr1:246175245..246176233-chr1:246613342..246615151,4	MCF-7	breast:
48	chr1:246606314..246608137-chr1:246622294..246625192,2	K562	blood:
49	chr1:246664090..246667600-chr1:246667950..246670801,5	K562	blood:
50	chr1:246672116..246673896-chr1:246728925..246730470,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TFB2M-3	chr1:246691864-246692143	NONHSAT010709
2	lnc-TFB2M-2	chr1:246484965-246485170	ENSG00000230184.1
3	lnc-CNST-2	chr1:246691213-246691457	NONHSAT010708
4	lnc-TFB2M-2	chr1:246485586-246485740	ENSG00000230184.1
5	lnc-CNST-2	chr1:246690332-246690503	NONHSAT010708

No data

Variant related genes	Relation type
ENSG00000227728	TF binding region
SMYD3	TF binding region
ENSG00000242042	TF binding region
SMYD3-IT1	TF binding region
ENSG00000229112	TF binding region
ENSG00000230813	TF binding region
ENSG00000207326	TF binding region
ENSG00000227728	CpG island
SMYD3	CpG island
ENSG00000242042	CpG island
SMYD3-IT1	CpG island
ENSG00000229112	CpG island
ENSG00000230813	CpG island
ENSG00000207326	CpG island
ENSG00000225300	chromatin interactions
ENSG00000230184	chromatin interactions
ENSG00000162851	chromatin interactions
ENSG00000166471	chromatin interactions
ENSG00000185420	chromatin interactions
ENSG00000229112	chromatin interactions
ENSG00000227728	chromatin interactions
ENSG00000162852	chromatin interactions
ENSG00000230813	chromatin interactions
ENSG00000207326	chromatin interactions

Extended variants
information (count: 8794 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:8794 , 50 per page) page: 1 2 3 4 5 6 7 ... 176

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556104307	chr1:246482926-246482927	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs114771980	chr1:246482966-246482967	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs188376162	chr1:246482976-246482977	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs558168251	chr1:246482977-246482978	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs530395674	chr1:246482993-246482994	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs578046433	chr1:246483026-246483027	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs543576355	chr1:246483075-246483076	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs1148723	chr1:246483082-246483083	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs573764792	chr1:246483088-246483089	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs373767164	chr1:246483105-246483106	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs60735263	chr1:246483147-246483148	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs559267430	chr1:246483148-246483149	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs140644772	chr1:246483170-246483171	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs193160004	chr1:246483186-246483187	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs564551473	chr1:246483191-246483192	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs145367515	chr1:246483248-246483249	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs184593239	chr1:246483269-246483270	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs567313681	chr1:246483280-246483281	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs529502875	chr1:246483283-246483284	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs75566429	chr1:246483329-246483330	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs137957189	chr1:246483337-246483338	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs569180133	chr1:246483382-246483383	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371607928	chr1:246483420-246483421	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs535355480	chr1:246483431-246483432	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs199923143	chr1:246483447-246483448	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs71533476	chr1:246483449-246483450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs78598786	chr1:246483459-246483460	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs376981180	chr1:246483487-246483488	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs546472957	chr1:246483510-246483511	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571556452	chr1:246483516-246483517	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs114064246	chr1:246483573-246483574	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs191865049	chr1:246483626-246483627	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs557217038	chr1:246483643-246483644	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs574078801	chr1:246483644-246483645	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs10924690	chr1:246483783-246483784	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs558258042	chr1:246483833-246483834	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs149035551	chr1:246483857-246483858	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs1148724	chr1:246483863-246483864	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs373612790	chr1:246483902-246483903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs143048622	chr1:246483974-246483975	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs530432668	chr1:246483983-246483984	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1148725	chr1:246484032-246484033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs542502504	chr1:246484056-246484057	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs35100557	chr1:246484064-246484065	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs148192441	chr1:246484091-246484092	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs529780413	chr1:246484092-246484093	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs567794823	chr1:246484118-246484119	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs3795461	chr1:246484147-246484148	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs528652337	chr1:246484159-246484160	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs183719300	chr1:246484172-246484173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	19805367	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19036926	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1951 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246423400-246509000	Weak transcription	Aorta	Aorta
2	chr1:246441800-246506600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:246447600-246502800	Weak transcription	Left Ventricle	heart
4	chr1:246455000-246493000	Weak transcription	Primary B cells from cord blood	blood
5	chr1:246461800-246493000	Weak transcription	Primary T cells from cord blood	blood
6	chr1:246465600-246518800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:246465800-246486600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:246470400-246493000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:246473400-246519200	Weak transcription	Pancreas	Pancrea
10	chr1:246474600-246504800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:246480800-246483000	Enhancers	NHLF	lung
12	chr1:246481000-246486400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:246481000-246507400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:246481200-246485800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:246481200-246488000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:246481600-246493000	Weak transcription	Osteobl	bone
17	chr1:246481800-246487600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:246482000-246483000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:246482200-246484600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:246482400-246484600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:246482400-246484600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:246482400-246484800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr1:246482600-246484400	Weak transcription	Fetal Brain Female	brain
24	chr1:246482600-246484600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:246482800-246483000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:246482800-246487400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:246482800-246487800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:246482800-246494400	Weak transcription	Fetal Lung	lung
29	chr1:246483000-246484400	Enhancers	Primary hematopoietic stem cells	blood
30	chr1:246483000-246484400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:246483000-246484600	Enhancers	HUVEC	blood vessel
32	chr1:246483000-246490400	Weak transcription	NHLF	lung
33	chr1:246483000-246493200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:246483400-246484000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr1:246483400-246491000	Weak transcription	Stomach Mucosa	stomach
36	chr1:246483400-246493200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr1:246483600-246484400	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr1:246483600-246496200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr1:246484000-246484600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr1:246484200-246484400	Enhancers	Liver	Liver
41	chr1:246484400-246484600	Enhancers	Fetal Brain Female	brain
42	chr1:246484400-246493000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:246484400-246498400	Weak transcription	Liver	Liver
44	chr1:246484600-246490200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:246484600-246493000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:246484600-246501400	Weak transcription	HUVEC	blood vessel
47	chr1:246484800-246493200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr1:246485800-246487200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:246486400-246486600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr1:246486600-246486800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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