Variant report

Variant	nsv1010175
Chromosome Location	chr2:54292951-54343466
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1772)
CpG islands
(count:611)
Chromatin interactive
region (count:59)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1772 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:54330391-54330394	K562	blood:	n/a	n/a
2	ARID3A	chr2:54342214-54342674	K562	blood:	n/a	n/a
3	ARID3A	chr2:54301055-54301148	K562	blood:	n/a	n/a
4	ARID3A	chr2:54342112-54343329	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:54334105-54334747	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:54330782-54331178	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:54303768-54304953	K562	blood:	n/a	n/a
8	ATF1	chr2:54308755-54309212	K562	blood:	n/a	n/a
9	ATF1	chr2:54304371-54304869	K562	blood:	n/a	n/a
10	ATF2	chr2:54342597-54343101	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr2:54308540-54309302	GM12878	blood:	n/a	n/a
12	ATF2	chr2:54342653-54343101	GM12878	blood:	n/a	n/a
13	ATF2	chr2:54342739-54343162	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr2:54342259-54343435	GM12878	blood:	n/a	n/a
15	ATF2	chr2:54300974-54301393	GM12878	blood:	n/a	n/a
16	ATF2	chr2:54308473-54309250	GM12878	blood:	n/a	n/a
17	ATF3	chr2:54308822-54309096	K562	blood:	n/a	n/a
18	ATF3	chr2:54342441-54343319	A549	lung:	n/a	chr2:54342686-54342706
19	ATF3	chr2:54308720-54309207	K562	blood:	n/a	n/a
20	ATF3	chr2:54342491-54342880	K562	blood:	n/a	chr2:54342686-54342706
21	ATF3	chr2:54304492-54304875	K562	blood:	n/a	n/a
22	ATF3	chr2:54342494-54343241	A549	lung:	n/a	chr2:54342686-54342706
23	BACH1	chr2:54301078-54301256	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr2:54342290-54342469	K562	blood:	n/a	n/a
25	BACH1	chr2:54301084-54301279	K562	blood:	n/a	n/a
26	BACH1	chr2:54342641-54343194	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr2:54311767-54312028	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr2:54342909-54343140	K562	blood:	n/a	n/a
29	BATF	chr2:54308614-54309143	GM12878	blood:	n/a	chr2:54308907-54308918 chr2:54308908-54308918 chr2:54308912-54308922
30	BATF	chr2:54301001-54301361	GM12878	blood:	n/a	chr2:54301140-54301151 chr2:54301206-54301217
31	BATF	chr2:54300957-54301406	GM12878	blood:	n/a	chr2:54301140-54301151 chr2:54301206-54301217
32	BATF	chr2:54308598-54309166	GM12878	blood:	n/a	chr2:54308907-54308918 chr2:54308908-54308918 chr2:54308912-54308922
33	BCL11A	chr2:54301032-54301359	GM12878	blood:	n/a	n/a
34	BCL11A	chr2:54308658-54309115	GM12878	blood:	n/a	chr2:54308929-54308938 chr2:54309019-54309026
35	BCL11A	chr2:54308579-54309128	GM12878	blood:	n/a	chr2:54308929-54308938 chr2:54309019-54309026
36	BCL3	chr2:54308620-54309160	GM12878	blood:	n/a	chr2:54308929-54308938 chr2:54309019-54309026
37	BCL3	chr2:54342350-54343391	A549	lung:	n/a	chr2:54343027-54343036 chr2:54343022-54343035
38	BCL3	chr2:54342363-54343384	A549	lung:	n/a	chr2:54343027-54343036 chr2:54343022-54343035
39	BCLAF1	chr2:54342532-54343140	K562	blood:	n/a	chr2:54343027-54343036 chr2:54343022-54343035
40	BCLAF1	chr2:54304429-54304960	K562	blood:	n/a	n/a
41	BCLAF1	chr2:54342382-54343284	GM12878	blood:	n/a	chr2:54343027-54343036 chr2:54343022-54343035
42	BCLAF1	chr2:54308385-54309255	GM12878	blood:	n/a	chr2:54308929-54308938 chr2:54309019-54309026
43	BCLAF1	chr2:54308645-54309174	GM12878	blood:	n/a	chr2:54308929-54308938 chr2:54309019-54309026
44	BCLAF1	chr2:54342302-54343327	GM12878	blood:	n/a	chr2:54343027-54343036 chr2:54343022-54343035
45	BHLHE40	chr2:54308767-54309165	K562	blood:	n/a	n/a
46	BHLHE40	chr2:54342489-54343344	GM12878	blood:	n/a	chr2:54343156-54343172 chr2:54343022-54343038
47	BHLHE40	chr2:54308623-54309223	GM12878	blood:	n/a	chr2:54309198-54309214
48	BHLHE40	chr2:54342457-54343261	HepG2	liver:	n/a	chr2:54343156-54343172 chr2:54343022-54343038
49	BHLHE40	chr2:54342339-54343334	K562	blood:	n/a	chr2:54343156-54343172 chr2:54343022-54343038
50	BHLHE40	chr2:54327114-54327240	GM12878	blood:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:54342806-54342856	AG04450	lung:	fetal
2	chr2:54342806-54342856	AG04450	lung:	fetal
3	chr2:54342961-54343011	GM12878	blood:	n/a
4	chr2:54315563-54315613	HRPEpiC	eye:	n/a
5	chr2:54340934-54340984	HEK293	kidney:	embryo
6	chr2:54343179-54343229	NHBE	bronchial:	n/a
7	chr2:54318970-54319020	T-47D	breast:	n/a
8	chr2:54340934-54340984	AG04449	skin:	fetal
9	chr2:54323593-54323643	LNCaP	prostate:	n/a
10	chr2:54318970-54319020	SK-N-SH	brain:	n/a
11	chr2:54342584-54342634	ovcar-3	ovarian:	n/a
12	chr2:54318970-54319020	RPTEC	kidney:	n/a
13	chr2:54323593-54323643	ovcar-3	ovarian:	n/a
14	chr2:54315563-54315613	SK-N-SH_RA	brain:	n/a
15	chr2:54340934-54340984	ProgFib	skin:	n/a
16	chr2:54318970-54319020	PANC-1	pancreas:	n/a
17	chr2:54342961-54343011	Hela-S3	cervix:	n/a
18	chr2:54343179-54343229	MCF10A-Er-Src	breast:	n/a
19	chr2:54340934-54340984	Caco-2	colon:	n/a
20	chr2:54343179-54343229	ECC-1	luminal epithelium:	n/a
21	chr2:54342584-54342634	PrEC	prostate:	n/a
22	chr2:54340934-54340984	Jurkat	blood:	n/a
23	chr2:54342961-54343011	PFSK-1	brain:	n/a
24	chr2:54340934-54340984	HCPEpiC	choroid plexus:	n/a
25	chr2:54340298-54340348	HCF	heart:	n/a
26	chr2:54315563-54315613	HUVEC	blood vessel:	n/a
27	chr2:54342961-54343011	ECC-1	luminal epithelium:	n/a
28	chr2:54343179-54343229	HCM	heart:	n/a
29	chr2:54323593-54323643	H1-hESC	embryonic stem cell:	embryo
30	chr2:54318970-54319020	BJ	skin:	n/a
31	chr2:54318970-54319020	HPAEpiC	pulmonary alveolar:	n/a
32	chr2:54340934-54340984	SAEC	small airway:	n/a
33	chr2:54318970-54319020	HNPCEpiC	eye:	n/a
34	chr2:54318970-54319020	HCF	heart:	n/a
35	chr2:54340298-54340348	AoSMC	blood vessel:	n/a
36	chr2:54343179-54343229	Jurkat	blood:	n/a
37	chr2:54342651-54342701	HCM	heart:	n/a
38	chr2:54342584-54342634	HNPCEpiC	eye:	n/a
39	chr2:54340298-54340348	GM06990	blood:	n/a
40	chr2:54318970-54319020	SAEC	small airway:	n/a
41	chr2:54342806-54342856	BJ	skin:	n/a
42	chr2:54340298-54340348	Hela-S3	cervix:	n/a
43	chr2:54342584-54342634	HCPEpiC	choroid plexus:	n/a
44	chr2:54343179-54343229	GM06990	blood:	n/a
45	chr2:54342584-54342634	AG04449	skin:	fetal
46	chr2:54318970-54319020	GM12878	blood:	n/a
47	chr2:54318970-54319020	NHBE	bronchial:	n/a
48	chr2:54318970-54319020	Caco-2	colon:	n/a
49	chr2:54323593-54323643	T-47D	breast:	n/a
50	chr2:54315563-54315613	AoSMC	blood vessel:	n/a

(count:59 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:54320518..54322524-chr2:54324906..54326587,2	MCF-7	breast:
2	chr2:54196743..54198781-chr2:54341566..54344110,2	K562	blood:
3	chr2:54343141..54345901-chr2:54421855..54423562,2	K562	blood:
4	chr1:190092651..190093439-chr2:54308392..54308957,2	MCF-7	breast:
5	chr2:54303310..54306490-chr2:54307537..54312281,6	K562	blood:
6	chr2:54320228..54322780-chr2:54323373..54326100,2	K562	blood:
7	chr2:54316468..54319152-chr2:54339625..54341327,2	K562	blood:
8	chr2:54303600..54306437-chr2:54307043..54310223,4	K562	blood:
9	chr2:54197521..54199570-chr2:54318251..54320315,2	MCF-7	breast:
10	chr17:79849578..79850209-chr2:54342411..54343037,2	Hela-S3	cervix:
11	chr2:54343136..54344762-chr2:54350422..54352755,2	K562	blood:
12	chr2:54335252..54336789-chr2:54355206..54357354,2	MCF-7	breast:
13	chr2:54318413..54321728-chr2:54322663..54325829,3	K562	blood:
14	chr2:54324274..54325864-chr2:54340786..54342893,2	K562	blood:
15	chr2:54334195..54335002-chr2:54730347..54730951,3	MCF-7	breast:
16	chr2:54306094..54308840-chr2:54317877..54320671,2	K562	blood:
17	chr2:54341216..54345253-chr2:54347980..54351307,5	MCF-7	breast:
18	chr2:54330146..54332373-chr2:54340352..54345020,6	MCF-7	breast:
19	chr2:54297675..54299835-chr2:54302463..54304744,3	K562	blood:
20	chr2:54316468..54319152-chr2:54339625..54341327,2	K562	blood:
21	chr2:54304842..54306570-chr2:54310702..54313482,3	K562	blood:
22	chr2:54310362..54312411-chr2:54340421..54343349,2	MCF-7	breast:
23	chr2:54342079..54343052-chr5:109024930..109025777,2	Hela-S3	cervix:
24	chr2:54319207..54320818-chr2:54338574..54340927,2	K562	blood:
25	chr2:54333529..54340855-chr2:54341009..54344742,14	K562	blood:
26	chr2:54184085..54186543-chr2:54292825..54294983,2	K562	blood:
27	chr2:54297675..54299835-chr2:54302463..54304744,3	K562	blood:
28	chr19:48281526..48282040-chr2:54342571..54343371,2	NB4	blood:
29	chr2:54341307..54344135-chr2:54557168..54559182,2	K562	blood:
30	chr2:54316883..54320439-chr2:54342176..54344468,4	MCF-7	breast:
31	chr2:54342420..54344092-chr20:46285600..46287785,2	MCF-7	breast:
32	chr2:54320228..54322780-chr2:54323373..54326100,2	K562	blood:
33	chr2:54329359..54330891-chr2:54348724..54350959,2	MCF-7	breast:
34	chr2:54320518..54322524-chr2:54324906..54326587,2	MCF-7	breast:
35	chr2:54292163..54295767-chr2:54296379..54301634,7	K562	blood:
36	chr16:20912054..20912881-chr2:54342309..54343237,2	Hela-S3	cervix:
37	chr2:54314163..54315744-chr2:54319070..54321460,2	MCF-7	breast:
38	chr2:54292163..54295767-chr2:54296379..54301634,7	K562	blood:
39	chr2:54279730..54280237-chr2:54311516..54312403,2	MCF-7	breast:
40	chr2:54294456..54296366-chr2:54347167..54348766,2	K562	blood:
41	chr15:76603595..76604138-chr2:54342354..54343006,2	HCT-116	colon:
42	chr2:54310601..54313895-chr2:54315141..54317483,3	MCF-7	breast:
43	chr18:12947857..12948364-chr2:54342415..54343083,2	Hela-S3	cervix:
44	chr2:54334014..54340621-chr2:54341231..54344595,11	MCF-7	breast:
45	chr2:54342236..54343923-chr2:54879380..54882162,2	MCF-7	breast:
46	chr2:54310601..54313895-chr2:54315141..54317483,3	MCF-7	breast:
47	chr2:54341806..54344770-chr2:54784235..54787039,2	MCF-7	breast:
48	chr2:54319207..54320818-chr2:54338574..54340927,2	K562	blood:
49	chr2:54341443..54343043-chr2:54557751..54559883,2	MCF-7	breast:
50	chr2:54340617..54344494-chr2:54480899..54484108,3	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSME4-2	chr2:54307111-54307417	NONHSAT070726
2	lnc-ACYP2-1	chr2:54307069-54307601	ENSG00000239235.3
3	lnc-PSME4-2	chr2:54307069-54307599	NONHSAT070719
4	lnc-ACYP2-1	chr2:54292597-54293184	ENSG00000239235.3
5	lnc-PSME4-2	chr2:54292597-54293185	NONHSAT070719
6	lnc-PSME4-2	chr2:54311715-54312205	NONHSAT070719
7	lnc-ACYP2-2	chr2:54311707-54312203	ENSG00000272156.1
8	lnc-ACYP2-2	chr2:54309691-54309925	ENSG00000272156.1

No data

Variant related genes	Relation type
ENSG00000241114	TF binding region
ACYP2	TF binding region
ENSG00000272156	TF binding region
ENSG00000241114	CpG island
ACYP2	CpG island
ENSG00000272156	CpG island
ENSG00000112893	chromatin interactions
ENSG00000115306	chromatin interactions
ENSG00000115310	chromatin interactions
ENSG00000196562	chromatin interactions
ENSG00000177994	chromatin interactions
ENSG00000085415	chromatin interactions
ENSG00000141552	chromatin interactions
ENSG00000068878	chromatin interactions
ENSG00000170634	chromatin interactions
ENSG00000178980	chromatin interactions
ENSG00000241114	chromatin interactions
ENSG00000140374	chromatin interactions
ENSG00000178021	chromatin interactions
ENSG00000102897	chromatin interactions
ENSG00000272156	chromatin interactions

Extended variants
information (count: 2049 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:2049 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150422222	chr2:54292996-54292997	Weak transcription Enhancers Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs546872775	chr2:54293026-54293027	Weak transcription Enhancers Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs2302938	chr2:54293037-54293038	Weak transcription Enhancers Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs187101223	chr2:54293048-54293049	Weak transcription Enhancers Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs554912812	chr2:54293075-54293076	Weak transcription Enhancers Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs568631041	chr2:54293078-54293079	Weak transcription Enhancers Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs191555928	chr2:54293083-54293084	Weak transcription Enhancers Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs560390536	chr2:54293123-54293124	Weak transcription Enhancers Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs117258510	chr2:54293139-54293140	Weak transcription Enhancers Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs546237572	chr2:54293154-54293155	Weak transcription Enhancers Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs553389464	chr2:54293168-54293169	Weak transcription Enhancers Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs573405068	chr2:54293204-54293205	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529068566	chr2:54293207-54293208	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542304274	chr2:54293220-54293221	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560964325	chr2:54293287-54293288	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145250004	chr2:54293330-54293331	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543202749	chr2:54293335-54293336	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563264952	chr2:54293339-54293340	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184530175	chr2:54293347-54293348	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537920702	chr2:54293364-54293365	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551788644	chr2:54293385-54293386	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375243277	chr2:54293399-54293400	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558899731	chr2:54293400-54293401	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565140658	chr2:54293416-54293417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149128394	chr2:54293419-54293420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114646739	chr2:54293430-54293431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537673654	chr2:54293458-54293459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551164368	chr2:54293459-54293460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532639678	chr2:54293469-54293470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187454077	chr2:54293471-54293472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553448757	chr2:54293490-54293491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573179051	chr2:54293500-54293501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535439052	chr2:54293530-54293531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555830893	chr2:54293546-54293547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575621100	chr2:54293554-54293555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10208233	chr2:54293570-54293571	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs563125636	chr2:54293571-54293572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576753515	chr2:54293573-54293574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545684561	chr2:54293574-54293575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547791076	chr2:54293593-54293594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193258359	chr2:54293642-54293643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559284903	chr2:54293707-54293708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143260037	chr2:54293711-54293712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370057481	chr2:54293718-54293719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530509707	chr2:54293752-54293753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs41492747	chr2:54293786-54293787	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs551484482	chr2:54293854-54293855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10208690	chr2:54293920-54293921	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs540174572	chr2:54293942-54293943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547325212	chr2:54294000-54294001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1042 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54278800-54302400	Weak transcription	Left Ventricle	heart
2	chr2:54280800-54310000	Weak transcription	Ovary	ovary
3	chr2:54280800-54315000	Weak transcription	Adipose Nuclei	Adipose
4	chr2:54280800-54315200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:54280800-54331000	Weak transcription	Aorta	Aorta
6	chr2:54281600-54308800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:54282200-54293800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:54287000-54310000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:54287200-54293200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:54287200-54307000	Weak transcription	Primary T cells from cord blood	blood
11	chr2:54287400-54295000	Weak transcription	K562	blood
12	chr2:54289800-54317600	Weak transcription	Primary B cells from cord blood	blood
13	chr2:54290000-54293000	Enhancers	Brain Substantia Nigra	brain
14	chr2:54290600-54293200	Enhancers	Brain Cingulate Gyrus	brain
15	chr2:54290600-54293600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:54290600-54293800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:54290600-54294400	Enhancers	HMEC	breast
18	chr2:54291000-54293800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:54291200-54293000	Enhancers	Brain Hippocampus Middle	brain
20	chr2:54291200-54342000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:54291400-54295200	Weak transcription	Stomach Mucosa	stomach
22	chr2:54291600-54293600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr2:54291600-54295000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:54291600-54295200	Weak transcription	Psoas Muscle	Psoas
25	chr2:54291600-54298000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr2:54291800-54293400	Enhancers	Osteobl	bone
27	chr2:54291800-54294600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:54291800-54295600	Enhancers	HSMMtube	muscle
29	chr2:54291800-54304800	Weak transcription	Fetal Kidney	kidney
30	chr2:54292000-54293600	Enhancers	HSMM	muscle
31	chr2:54292000-54308400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:54292200-54293200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:54292200-54293200	Weak transcription	Fetal Brain Male	brain
34	chr2:54292200-54293400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:54292200-54293600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr2:54292200-54293600	Enhancers	NHLF	lung
37	chr2:54292400-54293000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:54292400-54293000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:54292400-54293200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:54292400-54293200	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr2:54292400-54293400	Enhancers	Fetal Brain Female	brain
42	chr2:54292400-54293400	Enhancers	NH-A	brain
43	chr2:54292400-54293600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:54292600-54293000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:54292600-54293200	Enhancers	Brain Anterior Caudate	brain
46	chr2:54292600-54293400	Strong transcription	Fetal Muscle Leg	muscle
47	chr2:54292800-54293200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:54292800-54293200	Flanking Active TSS	NHDF-Ad	bronchial
49	chr2:54292800-54293400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr2:54292800-54293400	Flanking Active TSS	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links