Variant report

Variant	esv1829425
Chromosome Location	chr22:30184378-30297376
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2266)
CpG islands
(count:1526)
Chromatin interactive
region (count:132)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:2266 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:30236540-30236830	K562	blood:	n/a	n/a
2	ARID3A	chr22:30195198-30195651	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:30238777-30239114	HepG2	liver:	n/a	n/a
4	ARID3A	chr22:30195264-30195441	K562	blood:	n/a	n/a
5	ARID3A	chr22:30223319-30223468	K562	blood:	n/a	n/a
6	ARID3A	chr22:30217230-30217886	K562	blood:	n/a	n/a
7	ARID3A	chr22:30217223-30217734	HepG2	liver:	n/a	n/a
8	ARID3A	chr22:30234310-30234611	HepG2	liver:	n/a	n/a
9	ATF1	chr22:30238700-30238944	K562	blood:	n/a	n/a
10	ATF1	chr22:30217232-30217860	K562	blood:	n/a	n/a
11	ATF1	chr22:30236566-30236895	K562	blood:	n/a	n/a
12	ATF2	chr22:30217125-30217773	GM12878	blood:	n/a	n/a
13	ATF2	chr22:30193251-30193741	GM12878	blood:	n/a	n/a
14	ATF2	chr22:30193350-30193707	GM12878	blood:	n/a	n/a
15	ATF2	chr22:30234033-30234573	GM12878	blood:	n/a	n/a
16	ATF3	chr22:30195219-30195441	K562	blood:	n/a	n/a
17	ATF3	chr22:30217182-30217864	K562	blood:	n/a	n/a
18	ATF3	chr22:30209520-30209905	K562	blood:	n/a	n/a
19	BACH1	chr22:30267819-30267923	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr22:30195202-30195718	K562	blood:	n/a	n/a
21	BACH1	chr22:30279479-30279812	H1-hESC	embryonic stem cell:	n/a	n/a
22	BATF	chr22:30217234-30217659	GM12878	blood:	n/a	chr22:30217429-30217440
23	BATF	chr22:30193388-30193664	GM12878	blood:	n/a	n/a
24	BATF	chr22:30217238-30217685	GM12878	blood:	n/a	chr22:30217429-30217440
25	BCL11A	chr22:30193406-30193675	GM12878	blood:	n/a	n/a
26	BCL11A	chr22:30193366-30193692	GM12878	blood:	n/a	n/a
27	BCL3	chr22:30223588-30224061	GM12878	blood:	n/a	n/a
28	BCLAF1	chr22:30193259-30193741	GM12878	blood:	n/a	n/a
29	BCLAF1	chr22:30217248-30217784	GM12878	blood:	n/a	n/a
30	BCLAF1	chr22:30279600-30279919	GM12878	blood:	n/a	n/a
31	BCLAF1	chr22:30217132-30217694	GM12878	blood:	n/a	n/a
32	BHLHE40	chr22:30217275-30217758	K562	blood:	n/a	n/a
33	BHLHE40	chr22:30195275-30195771	HepG2	liver:	n/a	n/a
34	BHLHE40	chr22:30278918-30279151	GM12878	blood:	n/a	chr22:30279006-30279022 chr22:30279105-30279121
35	BHLHE40	chr22:30195108-30195777	K562	blood:	n/a	n/a
36	BHLHE40	chr22:30234227-30234672	K562	blood:	n/a	n/a
37	BHLHE40	chr22:30209626-30210228	K562	blood:	n/a	n/a
38	BHLHE40	chr22:30279106-30279791	K562	blood:	n/a	chr22:30279511-30279527
39	BRCA1	chr22:30217188-30217823	Hela-S3	cervix:	n/a	n/a
40	BRCA1	chr22:30279422-30279568	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr22:30279281-30279298	HepG2	liver:	n/a	n/a
42	BRCA1	chr22:30210629-30210724	GM12878	blood:	n/a	n/a
43	BRCA1	chr22:30279225-30279344	GM12878	blood:	n/a	n/a
44	BRCA1	chr22:30234090-30234547	Hela-S3	cervix:	n/a	n/a
45	CBX3	chr22:30217161-30217855	K562	blood:	n/a	n/a
46	CBX3	chr22:30233642-30233964	K562	blood:	n/a	n/a
47	CBX3	chr22:30234206-30234667	K562	blood:	n/a	n/a
48	CBX3	chr22:30233647-30234176	K562	blood:	n/a	n/a
49	CBX3	chr22:30195167-30195495	K562	blood:	n/a	n/a
50	CCNT2	chr22:30278996-30279811	K562	blood:	n/a	chr22:30279052-30279061 chr22:30279470-30279479

(count:1526 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:30234293-30234343	GM12891	blood:	n/a
2	chr22:30234293-30234343	GM12891	blood:	n/a
3	chr22:30279241-30279291	U87	brain:	n/a
4	chr22:30275268-30275318	LNCaP	prostate:	n/a
5	chr22:30278876-30278926	GM12891	blood:	n/a
6	chr22:30234213-30234263	A549	lung:	n/a
7	chr22:30279922-30279972	BJ	skin:	n/a
8	chr22:30234456-30234506	HRPEpiC	eye:	n/a
9	chr22:30278876-30278926	AoSMC	blood vessel:	n/a
10	chr22:30275995-30276045	H1-hESC	embryonic stem cell:	embryo
11	chr22:30283578-30283628	GM06990	blood:	n/a
12	chr22:30279857-30279907	HCPEpiC	choroid plexus:	n/a
13	chr22:30278994-30279044	HRPEpiC	eye:	n/a
14	chr22:30237309-30237359	GM12878	blood:	n/a
15	chr22:30279241-30279291	HRE	kidney:	n/a
16	chr22:30277968-30278018	HCPEpiC	choroid plexus:	n/a
17	chr22:30184971-30185021	AG04449	skin:	fetal
18	chr22:30234304-30234354	NHDF-neo	bronchial:	n/a
19	chr22:30275995-30276045	ProgFib	skin:	n/a
20	chr22:30275268-30275318	HUVEC	blood vessel:	n/a
21	chr22:30279857-30279907	AG09309	skin:	n/a
22	chr22:30234222-30234272	U87	brain:	n/a
23	chr22:30279922-30279972	LNCaP	prostate:	n/a
24	chr22:30234508-30234558	MCF10A-Er-Src	breast:	n/a
25	chr22:30275995-30276045	HCPEpiC	choroid plexus:	n/a
26	chr22:30233609-30233659	AG10803	skin:	n/a
27	chr22:30234304-30234354	HepG2	liver:	n/a
28	chr22:30278876-30278926	NB4	blood:	n/a
29	chr22:30278994-30279044	AG09309	skin:	n/a
30	chr22:30279922-30279972	ECC-1	luminal epithelium:	n/a
31	chr22:30277391-30277441	ovcar-3	ovarian:	n/a
32	chr22:30278992-30279042	HMEC	breast:	n/a
33	chr22:30237309-30237359	AG04450	lung:	fetal
34	chr22:30279241-30279291	NH-A	brain:	n/a
35	chr22:30278994-30279044	BJ	skin:	n/a
36	chr22:30275268-30275318	NB4	blood:	n/a
37	chr22:30278992-30279042	AG09309	skin:	n/a
38	chr22:30278876-30278926	T-47D	breast:	n/a
39	chr22:30233924-30233974	NHBE	bronchial:	n/a
40	chr22:30230951-30231001	LNCaP	prostate:	n/a
41	chr22:30234456-30234506	NHBE	bronchial:	n/a
42	chr22:30234456-30234506	HEK293	kidney:	embryo
43	chr22:30234222-30234272	NHDF-neo	bronchial:	n/a
44	chr22:30279857-30279907	HUVEC	blood vessel:	n/a
45	chr22:30234213-30234263	Caco-2	colon:	n/a
46	chr22:30234304-30234354	SK-N-SH	brain:	n/a
47	chr22:30278876-30278926	HL-60	blood:	n/a
48	chr22:30195299-30195349	AG09309	skin:	n/a
49	chr22:30234508-30234558	ovcar-3	ovarian:	n/a
50	chr22:30277391-30277441	LNCaP	prostate:	n/a

(count:132 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr22:30168312..30170013-chr22:30216889..30218868,2	MCF-7	breast:
2	chr22:30228546..30230856-chr22:30232707..30235317,4	MCF-7	breast:
3	chr22:30127476..30130014-chr22:30183535..30186061,2	MCF-7	breast:
4	chr22:30161269..30163676-chr22:30230353..30231980,2	MCF-7	breast:
5	chr22:30218166..30221158-chr22:30224343..30226322,2	K562	blood:
6	chr22:30289517..30291568-chr22:30301427..30303381,2	K562	blood:
7	chr22:30182549..30186689-chr22:30188373..30192437,4	K562	blood:
8	chr22:30191459..30193505-chr22:30210545..30213247,2	MCF-7	breast:
9	chr22:30197601..30198103-chr22:30207199..30208176,2	MCF-7	breast:
10	chr22:30211621..30214094-chr22:30399623..30401520,2	K562	blood:
11	chr22:30267624..30270362-chr22:30273098..30276358,3	K562	blood:
12	chr22:30265481..30267590-chr22:30272869..30274738,2	MCF-7	breast:
13	chr22:30199847..30201842-chr22:30205900..30208227,2	MCF-7	breast:
14	chr22:30209515..30211458-chr22:30232926..30235230,2	K562	blood:
15	chr22:30208243..30210090-chr22:30279066..30280884,2	MCF-7	breast:
16	chr22:30191545..30194644-chr22:30195667..30197802,3	K562	blood:
17	chr22:30208243..30210090-chr22:30279066..30280884,2	MCF-7	breast:
18	chr22:30216228..30218392-chr22:30231989..30234163,2	K562	blood:
19	chr22:30189037..30193346-chr22:30193366..30197139,6	MCF-7	breast:
20	chr22:30228718..30231367-chr22:30232651..30236541,5	K562	blood:
21	chr22:30168082..30170314-chr22:30185958..30187695,2	MCF-7	breast:
22	chr22:30203646..30205505-chr22:30211553..30214467,2	K562	blood:
23	chr22:30194772..30195304-chr22:30212522..30213350,3	MCF-7	breast:
24	chr22:30206160..30207800-chr22:30209309..30211288,2	K562	blood:
25	chr22:30203989..30206698-chr22:30207811..30209768,4	MCF-7	breast:
26	chr22:30205102..30207625-chr22:30210050..30212988,2	MCF-7	breast:
27	chr22:30277721..30280339-chr22:30399364..30402748,3	K562	blood:
28	chr22:30191545..30194644-chr22:30195667..30197802,3	K562	blood:
29	chr22:30198973..30201297-chr22:30207957..30210741,2	MCF-7	breast:
30	chr22:30183374..30186087-chr22:30189628..30192258,4	MCF-7	breast:
31	chr22:30187743..30188545-chr22:30401281..30401820,2	MCF-7	breast:
32	chr22:30265481..30267590-chr22:30272869..30274738,2	MCF-7	breast:
33	chr22:30240391..30242312-chr22:30254416..30255969,2	MCF-7	breast:
34	chr22:30182549..30185414-chr22:30188242..30189873,2	K562	blood:
35	chr22:30182549..30185414-chr22:30188242..30189873,2	K562	blood:
36	chr22:30224439..30228420-chr22:30233600..30235751,3	K562	blood:
37	chr22:30194639..30195376-chr22:30212522..30213417,5	MCF-7	breast:
38	chr22:30212293..30214646-chr22:30228307..30229827,2	MCF-7	breast:
39	chr22:30200496..30202537-chr22:30212324..30214845,2	MCF-7	breast:
40	chr22:30221897..30227952-chr22:30230604..30235599,8	MCF-7	breast:
41	chr22:30208644..30211473-chr22:30268127..30270343,2	MCF-7	breast:
42	chr22:30232853..30235316-chr22:30238798..30240388,2	MCF-7	breast:
43	chr22:30178054..30179718-chr22:30181967..30184538,2	MCF-7	breast:
44	chr22:30162371..30164035-chr22:30233277..30234908,2	MCF-7	breast:
45	chr16:46723531..46724116-chr22:30233901..30234633,2	Hela-S3	cervix:
46	chr22:30194772..30195304-chr22:30212522..30213350,3	MCF-7	breast:
47	chr22:30163203..30165019-chr22:30216595..30218999,2	MCF-7	breast:
48	chr22:30288615..30290652-chr22:30302494..30304851,2	MCF-7	breast:
49	chr22:30238896..30240450-chr22:30246132..30247997,2	K562	blood:
50	chr22:30189139..30191071-chr22:30192199..30195286,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HORMAD2-6	chr22:30279168-30279348	NONHSAT084740

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	ASCC2	hsa-miR-124-3p	chr22:30184806-30184825
2	ASCC2	hsa-miR-124-3p	chr22:30184812-30184805
3	ASCC2	hsa-miR-320a	chr22:30184879-30184902

Variant related genes	Relation type
RNU6-331P	TF binding region
MTMR3	TF binding region
ASCC2	TF binding region
RNU6-331P	CpG island
MTMR3	CpG island
ASCC2	CpG island
ENSG00000100319	chromatin interactions
ENSG00000184076	chromatin interactions
ENSG00000100325	chromatin interactions
ENSG00000100330	chromatin interactions
ENSG00000200976	chromatin interactions
ENSG00000091651	chromatin interactions

Extended variants
information (count: 4336 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:4336 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543467500	chr22:30184453-30184454	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs143485282	chr22:30184459-30184460	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs578260882	chr22:30184498-30184499	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs188410288	chr22:30184499-30184500	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560743119	chr22:30184525-30184526	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs527744513	chr22:30184571-30184572	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs192859620	chr22:30184578-30184579	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs372303899	chr22:30184593-30184594	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs77843430	chr22:30184598-30184599	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs140147	chr22:30184599-30184600	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs564097578	chr22:30184616-30184617	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376544307	chr22:30184645-30184646	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs532275945	chr22:30184712-30184713	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs141623939	chr22:30184731-30184732	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532726216	chr22:30184776-30184777	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs113698287	chr22:30184778-30184779	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs1048001	chr22:30184798-30184799	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs558631179	chr22:30184916-30184917	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565880057	chr22:30184918-30184919	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs112954721	chr22:30184921-30184922	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs7954	chr22:30184950-30184951	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs374255582	chr22:30184952-30184953	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs367692949	chr22:30184960-30184961	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs370623853	chr22:30184972-30184973	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs146167118	chr22:30184982-30184983	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368440043	chr22:30184984-30184985	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs140034829	chr22:30185033-30185034	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs372345494	chr22:30185038-30185039	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs28544456	chr22:30185046-30185047	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs569798788	chr22:30185052-30185053	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs537037042	chr22:30185063-30185064	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs6006255	chr22:30185071-30185072	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs554784267	chr22:30185072-30185073	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs558636205	chr22:30185082-30185083	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs377260532	chr22:30185095-30185096	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373433240	chr22:30185096-30185097	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs143919306	chr22:30185099-30185100	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs139016848	chr22:30185114-30185115	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs368423719	chr22:30185143-30185144	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs201748529	chr22:30185198-30185199	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs572622935	chr22:30185233-30185234	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542881588	chr22:30185268-30185269	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs2269971	chr22:30185270-30185271	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs561036256	chr22:30185299-30185300	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs531737086	chr22:30185300-30185301	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs543364505	chr22:30185301-30185302	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs182901427	chr22:30185326-30185327	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs140148	chr22:30185352-30185353	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs58016477	chr22:30185363-30185364	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs547690162	chr22:30185404-30185405	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3483 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30164600-30185000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:30164600-30188600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr22:30166800-30194400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr22:30167200-30187800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr22:30167400-30185400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr22:30175400-30194000	Weak transcription	Hela-S3	cervix
7	chr22:30177000-30189000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:30177200-30186000	Weak transcription	Fetal Kidney	kidney
9	chr22:30177400-30184400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr22:30177600-30233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr22:30178400-30193000	Weak transcription	A549	lung
12	chr22:30178600-30184400	Weak transcription	Colonic Mucosa	Colon
13	chr22:30178600-30184800	Weak transcription	Colon Smooth Muscle	Colon
14	chr22:30178800-30186000	Weak transcription	K562	blood
15	chr22:30178800-30186000	Weak transcription	NH-A	brain
16	chr22:30179200-30185600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr22:30180200-30186800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr22:30180800-30187800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr22:30181200-30185400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr22:30181200-30188200	Weak transcription	Fetal Brain Male	brain
21	chr22:30181200-30196200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr22:30181200-30196200	Weak transcription	Fetal Heart	heart
23	chr22:30181400-30185400	Weak transcription	NHDF-Ad	bronchial
24	chr22:30181400-30185600	Weak transcription	Psoas Muscle	Psoas
25	chr22:30182000-30194600	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr22:30182200-30184400	Enhancers	Placenta Amnion	Placenta Amnion
27	chr22:30182200-30194000	Strong transcription	Fetal Muscle Leg	muscle
28	chr22:30182200-30217000	Strong transcription	Fetal Intestine Small	intestine
29	chr22:30182200-30222200	Strong transcription	Thymus	Thymus
30	chr22:30182400-30184400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr22:30182400-30184800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr22:30182400-30184800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr22:30182400-30185200	Weak transcription	Fetal Lung	lung
34	chr22:30182400-30192800	Strong transcription	Brain Hippocampus Middle	brain
35	chr22:30182600-30194800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr22:30182800-30185800	Genic enhancers	Spleen	Spleen
37	chr22:30182800-30192000	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr22:30182800-30192800	Strong transcription	Fetal Thymus	thymus
39	chr22:30182800-30194400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr22:30182800-30194600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr22:30182800-30194600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr22:30182800-30204600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr22:30182800-30204800	Strong transcription	Fetal Brain Female	brain
44	chr22:30182800-30232200	Strong transcription	Primary T cells from cord blood	blood
45	chr22:30182800-30232200	Strong transcription	Fetal Stomach	stomach
46	chr22:30183000-30188600	Strong transcription	Primary hematopoietic stem cells	blood
47	chr22:30183000-30189000	Strong transcription	HUVEC	blood vessel
48	chr22:30183000-30189800	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr22:30183000-30191600	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr22:30183000-30192600	Strong transcription	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links