Variant report

Variant	nsv913952
Chromosome Location	chr21:45988426-46031810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:540)
CpG islands
(count:1099)
Chromatin interactive
region (count:22)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:540 , 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	chr21:46013768-46014182	K562	blood:	n/a	n/a
2	ARID3A	chr21:46013320-46013718	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:46003779-46003798	HepG2	liver:	n/a	n/a
4	ATF1	chr21:45989043-45989370	K562	blood:	n/a	n/a
5	ATF1	chr21:46013788-46014363	K562	blood:	n/a	n/a
6	ATF1	chr21:45993004-45993077	K562	blood:	n/a	n/a
7	ATF1	chr21:46001857-46002317	K562	blood:	n/a	n/a
8	ATF3	chr21:46013551-46013831	HepG2	liver:	n/a	n/a
9	BACH1	chr21:46013828-46013867	K562	blood:	n/a	n/a
10	BATF	chr21:46003684-46003941	GM12878	blood:	n/a	chr21:46003842-46003853
11	BATF	chr21:46003684-46003988	GM12878	blood:	n/a	chr21:46003842-46003853
12	BCLAF1	chr21:46003696-46003953	GM12878	blood:	n/a	n/a
13	BHLHE40	chr21:46003715-46003915	GM12878	blood:	n/a	n/a
14	BHLHE40	chr21:46024003-46024103	K562	blood:	n/a	chr21:46024066-46024079 chr21:46024069-46024078 chr21:46024068-46024077 chr21:46024068-46024077
15	BHLHE40	chr21:45993089-45993220	K562	blood:	n/a	n/a
16	BHLHE40	chr21:46003781-46003870	HepG2	liver:	n/a	n/a
17	BHLHE40	chr21:46022581-46022689	K562	blood:	n/a	n/a
18	BHLHE40	chr21:46001901-46002243	K562	blood:	n/a	n/a
19	BHLHE40	chr21:45988860-45989389	K562	blood:	n/a	chr21:45988914-45988930
20	BHLHE40	chr21:45993089-45993414	HepG2	liver:	n/a	n/a
21	BHLHE40	chr21:46003254-46003447	K562	blood:	n/a	n/a
22	BHLHE40	chr21:46013465-46013847	HepG2	liver:	n/a	n/a
23	BHLHE40	chr21:46013494-46014296	K562	blood:	n/a	n/a
24	BHLHE40	chr21:46013480-46013870	HepG2	liver:	n/a	n/a
25	BRCA1	chr21:46013003-46013117	Hela-S3	cervix:	n/a	n/a
26	CBX3	chr21:46013585-46014139	K562	blood:	n/a	n/a
27	CBX3	chr21:45989101-45989409	K562	blood:	n/a	n/a
28	CBX3	chr21:45989069-45989379	K562	blood:	n/a	n/a
29	CCNT2	chr21:46013834-46014226	K562	blood:	n/a	n/a
30	CCNT2	chr21:46001980-46002156	K562	blood:	n/a	n/a
31	CEBPB	chr21:45992965-45993094	HepG2	liver:	n/a	n/a
32	CEBPB	chr21:45994898-45995082	HepG2	liver:	n/a	n/a
33	CEBPB	chr21:46013697-46014257	K562	blood:	n/a	n/a
34	CEBPB	chr21:46013387-46013649	HepG2	liver:	n/a	n/a
35	CEBPB	chr21:46013656-46014348	K562	blood:	n/a	n/a
36	CEBPB	chr21:45992071-45992108	HepG2	liver:	n/a	n/a
37	CEBPB	chr21:46013452-46013488	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr21:45992028-45992129	K562	blood:	n/a	chr21:45992102-45992113
39	CEBPD	chr21:46013737-46014144	K562	blood:	n/a	n/a
40	CEBPD	chr21:46013758-46014309	K562	blood:	n/a	n/a
41	CHD2	chr21:45994914-45995251	HepG2	liver:	n/a	chr21:45995063-45995073
42	CREB1	chr21:46003590-46003944	GM12878	blood:	n/a	n/a
43	CREB1	chr21:46003637-46004073	GM12878	blood:	n/a	n/a
44	CREB1	chr21:45989022-45989466	K562	blood:	n/a	n/a
45	CTCF	chr21:46020919-46021018	NHEK	skin:	n/a	n/a
46	CTCF	chr21:46021131-46021397	MCF-7	breast:	n/a	n/a
47	CTCF	chr21:46021291-46021293	Fibrobl	skin:	n/a	n/a
48	CTCF	chr21:46012078-46012141	LNCaP	prostate:	n/a	n/a
49	CTCF	chr21:46021180-46021330	HepG2	liver:	n/a	n/a
50	CTCF	chr21:46021160-46021310	HEK293	kidney:	n/a	n/a

(count:1099 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46001928-46001978	BE2_C	brain:	n/a
2	chr21:46001928-46001978	BE2_C	brain:	n/a
3	chr21:46001680-46001730	CMK	blood:	n/a
4	chr21:45992414-45992464	GM19239	blood:	n/a
5	chr21:45994842-45994892	HCPEpiC	choroid plexus:	n/a
6	chr21:46031707-46031757	RPTEC	kidney:	n/a
7	chr21:46019570-46019620	HepG2	liver:	n/a
8	chr21:46031707-46031757	MCF10A-Er-Src	breast:	n/a
9	chr21:46031707-46031757	HPAEpiC	pulmonary alveolar:	n/a
10	chr21:46021244-46021294	AoSMC	blood vessel:	n/a
11	chr21:46013658-46013708	NHDF-neo	bronchial:	n/a
12	chr21:46031707-46031757	CMK	blood:	n/a
13	chr21:46031741-46031791	SK-N-SH	brain:	n/a
14	chr21:46013658-46013708	ECC-1	luminal epithelium:	n/a
15	chr21:45994842-45994892	ECC-1	luminal epithelium:	n/a
16	chr21:45993280-45993330	PrEC	prostate:	n/a
17	chr21:46021988-46022038	AG04450	lung:	fetal
18	chr21:46020126-46020176	SAEC	small airway:	n/a
19	chr21:46020126-46020176	AG04450	lung:	fetal
20	chr21:45992414-45992464	AG09309	skin:	n/a
21	chr21:46019376-46019426	HRCEpiC	kidney:	n/a
22	chr21:45992414-45992464	PrEC	prostate:	n/a
23	chr21:46013658-46013708	HL-60	blood:	n/a
24	chr21:46011329-46011379	Caco-2	colon:	n/a
25	chr21:46011329-46011379	PFSK-1	brain:	n/a
26	chr21:46021244-46021294	Jurkat	blood:	n/a
27	chr21:46011329-46011379	HCPEpiC	choroid plexus:	n/a
28	chr21:46011329-46011379	HL-60	blood:	n/a
29	chr21:46001680-46001730	SKMC	muscle:	n/a
30	chr21:46020126-46020176	AG09309	skin:	n/a
31	chr21:46013658-46013708	RPTEC	kidney:	n/a
32	chr21:46001680-46001730	AG04449	skin:	fetal
33	chr21:46020461-46020511	GM19239	blood:	n/a
34	chr21:46013658-46013708	BJ	skin:	n/a
35	chr21:46019376-46019426	BE2_C	brain:	n/a
36	chr21:46011329-46011379	HepG2	liver:	n/a
37	chr21:46019376-46019426	T-47D	breast:	n/a
38	chr21:46019570-46019620	HCF	heart:	n/a
39	chr21:45992414-45992464	AoSMC	blood vessel:	n/a
40	chr21:46001928-46001978	CMK	blood:	n/a
41	chr21:46012520-46012570	PANC-1	pancreas:	n/a
42	chr21:46001928-46001978	SKMC	muscle:	n/a
43	chr21:46011329-46011379	MCF10A-Er-Src	breast:	n/a
44	chr21:45994842-45994892	HRE	kidney:	n/a
45	chr21:46001928-46001978	HRCEpiC	kidney:	n/a
46	chr21:45993280-45993330	HCPEpiC	choroid plexus:	n/a
47	chr21:46020461-46020511	GM06990	blood:	n/a
48	chr21:46011329-46011379	GM12878	blood:	n/a
49	chr21:46019570-46019620	Caco-2	colon:	n/a
50	chr21:45992414-45992464	A549	lung:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46023116..46026036-chr21:46032352..46034707,2	K562	blood:
2	chr21:45947897..45950026-chr21:45993818..45996487,2	MCF-7	breast:
3	chr21:46013183..46015349-chr21:46017921..46020365,2	MCF-7	breast:
4	chr21:45989841..45993258-chr21:45994452..45997591,3	MCF-7	breast:
5	chr21:46010036..46012728-chr21:46031362..46034012,2	MCF-7	breast:
6	chr21:45987378..45989214-chr21:45998869..46000795,2	MCF-7	breast:
7	chr21:45979063..45980801-chr21:45987415..45990235,2	MCF-7	breast:
8	chr21:46010036..46012728-chr21:46031362..46034012,2	MCF-7	breast:
9	chr21:45989841..45993258-chr21:45994452..45997591,3	MCF-7	breast:
10	chr21:45997782..46000332-chr21:46014593..46016862,2	MCF-7	breast:
11	chr21:46001819..46004380-chr21:46009202..46011051,3	K562	blood:
12	chr21:45987563..45989403-chr21:45990992..45992920,2	MCF-7	breast:
13	chr21:45971316..45974046-chr21:45988116..45989981,2	MCF-7	breast:
14	chr21:46021562..46023632-chr21:46186668..46188181,2	K562	blood:
15	chr21:45996027..45998365-chr21:45999932..46001503,2	MCF-7	breast:
16	chr21:45987563..45989403-chr21:45990992..45992920,2	MCF-7	breast:
17	chr21:45997782..46000332-chr21:46014593..46016862,2	MCF-7	breast:
18	chr21:46013183..46015349-chr21:46017921..46020365,2	MCF-7	breast:
19	chr21:46013451..46015943-chr21:46020098..46022022,2	K562	blood:
20	chr21:46001819..46004380-chr21:46009202..46011051,3	K562	blood:
21	chr21:46023322..46027722-chr21:46030622..46034722,4	MCF-7	breast:
22	chr21:46004403..46006273-chr21:46126860..46128813,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KRTAP10-4-1	chr21:45997192-45997328	NONHSAT082869
2	lnc-KRTAP10-4-1	chr21:45994970-45995428	NONHSAT082869
3	lnc-KRTAP10-4-1	chr21:45995808-45995960	NONHSAT082869
4	lnc-KRTAP10-5-1	chr21:45999254-45999677	NONHSAT082870

No data

Variant related genes	Relation type
KRTAP10-7	TF binding region
TSPEAR	TF binding region
KRTAP10-5	TF binding region
ENSG00000256212	TF binding region
KRTAP10-4	TF binding region
KRTAP10-8	TF binding region
KRTAP10-6	TF binding region
KRTAP10-7	CpG island
TSPEAR	CpG island
KRTAP10-5	CpG island
ENSG00000256212	CpG island
KRTAP10-4	CpG island
KRTAP10-8	CpG island
KRTAP10-6	CpG island
ENSG00000188155	chromatin interactions
ENSG00000205445	chromatin interactions
ENSG00000256212	chromatin interactions
ENSG00000241123	chromatin interactions
ENSG00000187766	chromatin interactions
ENSG00000205441	chromatin interactions

Extended variants
information (count: 2406 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:2406 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12627324	chr21:45988426-45988427	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs587594164	chr21:45988525-45988526	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs138833721	chr21:45988536-45988537	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs587663846	chr21:45988552-45988553	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs461436	chr21:45988559-45988560	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184239397	chr21:45988580-45988581	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs141362755	chr21:45988611-45988612	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs587685561	chr21:45988649-45988650	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs9982654	chr21:45988669-45988670	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs587624927	chr21:45988691-45988692	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs456780	chr21:45988710-45988711	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs142037012	chr21:45988735-45988736	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs145719403	chr21:45988778-45988779	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs375292859	chr21:45988820-45988821	Weak transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs369889759	chr21:45988856-45988857	Weak transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs9982855	chr21:45988863-45988864	Weak transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs587733848	chr21:45988888-45988889	Weak transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs9983521	chr21:45988906-45988907	Weak transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs587630976	chr21:45988907-45988908	Weak transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs587714805	chr21:45988908-45988909	Weak transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs138401446	chr21:45988919-45988920	Weak transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs201882096	chr21:45988994-45988995	Weak transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs149604892	chr21:45988997-45988998	Weak transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs587710166	chr21:45989002-45989003	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs587607841	chr21:45989008-45989009	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs17004672	chr21:45989026-45989027	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs465079	chr21:45989035-45989036	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs587632171	chr21:45989081-45989082	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs587657620	chr21:45989095-45989096	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs457647	chr21:45989115-45989116	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs587616789	chr21:45989120-45989121	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs587721656	chr21:45989127-45989128	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs12627518	chr21:45989128-45989129	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs587645977	chr21:45989146-45989147	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs117381890	chr21:45989149-45989150	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs457692	chr21:45989158-45989159	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs587636345	chr21:45989159-45989160	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs587714024	chr21:45989170-45989171	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs144347950	chr21:45989183-45989184	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs457697	chr21:45989191-45989192	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs373126212	chr21:45989197-45989198	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs587708366	chr21:45989207-45989208	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs457698	chr21:45989211-45989212	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs116619284	chr21:45989235-45989236	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs587708721	chr21:45989255-45989256	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs587604097	chr21:45989264-45989265	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs587599297	chr21:45989271-45989272	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs188790057	chr21:45989282-45989283	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs587744369	chr21:45989283-45989284	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs148785369	chr21:45989295-45989296	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45978400-45994400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:45987000-45989600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:45987800-45989400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:45988200-45989400	Enhancers	Fetal Muscle Leg	muscle
5	chr21:45988200-45989800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr21:45988400-45988800	Weak transcription	Gastric	stomach
7	chr21:45988800-45989000	ZNF genes & repeats	Gastric	stomach
8	chr21:45989000-45994200	Weak transcription	Gastric	stomach
9	chr21:45989400-45991200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr21:45991200-45991600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr21:45991200-45992200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:45991400-45991800	Bivalent Enhancer	HepG2	liver
13	chr21:45991600-45992000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:45991800-45994400	Enhancers	HepG2	liver
15	chr21:45992000-45992800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:45992200-45994400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr21:45992600-45994000	Enhancers	Stomach Mucosa	stomach
18	chr21:45992800-45993000	Bivalent Enhancer	Osteobl	bone
19	chr21:45992800-45993200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr21:45993200-45993400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr21:45993200-45993400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr21:45993200-45993400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
23	chr21:45993200-45993600	Enhancers	Fetal Brain Male	brain
24	chr21:45993400-45994200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr21:45993400-45994400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr21:45994200-45994400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
27	chr21:45994200-45994400	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr21:45994200-45994600	Flanking Active TSS	Colonic Mucosa	Colon
29	chr21:45994200-45994600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr21:45994200-45994800	Enhancers	Esophagus	oesophagus
31	chr21:45994200-45995000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
32	chr21:45994200-45995000	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr21:45994200-45995000	Enhancers	Gastric	stomach
34	chr21:45994200-45995600	Enhancers	Liver	Liver
35	chr21:45994400-45994600	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr21:45994400-45994600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr21:45994400-45994600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
38	chr21:45994400-45994600	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
39	chr21:45994400-45994800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
40	chr21:45994400-45994800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr21:45994400-45995000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr21:45994400-45995000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr21:45994400-45995000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr21:45994400-45995000	Enhancers	Pancreas	Pancrea
45	chr21:45994400-45995000	Flanking Active TSS	HepG2	liver
46	chr21:45994400-45995200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr21:45994400-45995200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr21:45994400-45995400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr21:45994400-45995400	Enhancers	Spleen	Spleen
50	chr21:45994600-45995000	Active TSS	Rectal Mucosa Donor 31	rectum

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