Variant report

Variant	esv1840383
Chromosome Location	chr2:10569021-10588903
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1911)
CpG islands
(count:1404)
Chromatin interactive
region (count:108)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1911 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:10588802-10589018	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:10575097-10575358	K562	blood:	n/a	n/a
3	ARID3A	chr2:10575114-10575331	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:10588104-10588185	K562	blood:	n/a	n/a
5	ARID3A	chr2:10588545-10588559	K562	blood:	n/a	n/a
6	ARID3A	chr2:10586574-10586586	K562	blood:	n/a	n/a
7	ATF2	chr2:10585443-10585956	GM12878	blood:	n/a	n/a
8	ATF2	chr2:10588724-10589212	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr2:10588737-10589160	GM12878	blood:	n/a	n/a
10	ATF2	chr2:10584634-10585027	GM12878	blood:	n/a	n/a
11	ATF2	chr2:10584524-10585039	GM12878	blood:	n/a	n/a
12	ATF2	chr2:10585388-10585812	GM12878	blood:	n/a	n/a
13	ATF3	chr2:10574995-10575468	A549	lung:	n/a	n/a
14	ATF3	chr2:10588723-10589046	K562	blood:	n/a	n/a
15	ATF3	chr2:10587944-10588307	HepG2	liver:	n/a	chr2:10587963-10587972
16	BACH1	chr2:10573220-10573459	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr2:10588358-10588681	K562	blood:	n/a	n/a
18	BACH1	chr2:10587483-10587820	K562	blood:	n/a	n/a
19	BACH1	chr2:10588407-10589117	H1-hESC	embryonic stem cell:	n/a	n/a
20	BATF	chr2:10585571-10585813	GM12878	blood:	n/a	chr2:10585650-10585658
21	BATF	chr2:10584630-10584994	GM12878	blood:	n/a	n/a
22	BATF	chr2:10584572-10585021	GM12878	blood:	n/a	n/a
23	BCL11A	chr2:10585493-10585875	GM12878	blood:	n/a	chr2:10585728-10585737
24	BCL11A	chr2:10584593-10584966	GM12878	blood:	n/a	n/a
25	BCL3	chr2:10574943-10575469	A549	lung:	n/a	n/a
26	BCL3	chr2:10587992-10588612	GM12878	blood:	n/a	chr2:10588309-10588322 chr2:10588222-10588231 chr2:10588262-10588275
27	BCL3	chr2:10573234-10573899	GM12878	blood:	n/a	n/a
28	BCL3	chr2:10578643-10580663	K562	blood:	n/a	n/a
29	BCL3	chr2:10578813-10579766	GM12878	blood:	n/a	n/a
30	BCL3	chr2:10573217-10573924	GM12878	blood:	n/a	n/a
31	BCL3	chr2:10578877-10579530	A549	lung:	n/a	n/a
32	BCL3	chr2:10579414-10579981	K562	blood:	n/a	n/a
33	BCLAF1	chr2:10587426-10588480	GM12878	blood:	n/a	chr2:10588309-10588322 chr2:10588222-10588231 chr2:10588262-10588275
34	BCLAF1	chr2:10579352-10579784	GM12878	blood:	n/a	n/a
35	BCLAF1	chr2:10574977-10575482	GM12878	blood:	n/a	n/a
36	BCLAF1	chr2:10579388-10580318	K562	blood:	n/a	n/a
37	BCLAF1	chr2:10585328-10585835	GM12878	blood:	n/a	chr2:10585728-10585737
38	BCLAF1	chr2:10578936-10579347	GM12878	blood:	n/a	n/a
39	BCLAF1	chr2:10588742-10589164	GM12878	blood:	n/a	n/a
40	BHLHE40	chr2:10575086-10575364	GM12878	blood:	n/a	chr2:10575222-10575238
41	BHLHE40	chr2:10585451-10585871	GM12878	blood:	n/a	n/a
42	BHLHE40	chr2:10575090-10575404	HepG2	liver:	n/a	chr2:10575222-10575238
43	BHLHE40	chr2:10579752-10579809	K562	blood:	n/a	n/a
44	BHLHE40	chr2:10587981-10588510	A549	lung:	n/a	n/a
45	BHLHE40	chr2:10575032-10575694	K562	blood:	n/a	chr2:10575222-10575238
46	BHLHE40	chr2:10587527-10589296	GM12878	blood:	n/a	n/a
47	BHLHE40	chr2:10573538-10573657	GM12878	blood:	n/a	n/a
48	BHLHE40	chr2:10577671-10577714	K562	blood:	n/a	n/a
49	BHLHE40	chr2:10584638-10584928	GM12878	blood:	n/a	n/a
50	BHLHE40	chr2:10587766-10589275	K562	blood:	n/a	n/a

(count:1404 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:10570059-10570109	SK-N-SH	brain:	n/a
2	chr2:10570059-10570109	SK-N-SH	brain:	n/a
3	chr2:10588232-10588282	ECC-1	luminal epithelium:	n/a
4	chr2:10581770-10581820	HL-60	blood:	n/a
5	chr2:10587627-10587677	AG04449	skin:	fetal
6	chr2:10575762-10575812	HRE	kidney:	n/a
7	chr2:10575762-10575812	GM12891	blood:	n/a
8	chr2:10572946-10572996	NH-A	brain:	n/a
9	chr2:10588646-10588696	NHBE	bronchial:	n/a
10	chr2:10588068-10588118	HAEpiC	amniotic membrane:	n/a
11	chr2:10572524-10572574	AG09319	gingival:	n/a
12	chr2:10588838-10588888	GM12878	blood:	n/a
13	chr2:10581770-10581820	HRCEpiC	kidney:	n/a
14	chr2:10574659-10574709	AoSMC	blood vessel:	n/a
15	chr2:10588468-10588518	A549	lung:	n/a
16	chr2:10588471-10588521	A549	lung:	n/a
17	chr2:10588068-10588118	HEEpiC	esophagus:	n/a
18	chr2:10581770-10581820	GM12892	blood:	n/a
19	chr2:10588232-10588282	HNPCEpiC	eye:	n/a
20	chr2:10587052-10587102	Caco-2	colon:	n/a
21	chr2:10586873-10586923	HL-60	blood:	n/a
22	chr2:10571959-10572009	T-47D	breast:	n/a
23	chr2:10581667-10581717	HEK293	kidney:	embryo
24	chr2:10588468-10588518	K562	blood:	n/a
25	chr2:10588232-10588282	PANC-1	pancreas:	n/a
26	chr2:10571959-10572009	Caco-2	colon:	n/a
27	chr2:10588493-10588543	HL-60	blood:	n/a
28	chr2:10588646-10588696	U87	brain:	n/a
29	chr2:10588471-10588521	Caco-2	colon:	n/a
30	chr2:10588068-10588118	SAEC	small airway:	n/a
31	chr2:10588068-10588118	Jurkat	blood:	n/a
32	chr2:10587052-10587102	MCF-7	breast:	n/a
33	chr2:10571959-10572009	BE2_C	brain:	n/a
34	chr2:10571959-10572009	HL-60	blood:	n/a
35	chr2:10587627-10587677	K562	blood:	n/a
36	chr2:10571959-10572009	SK-N-SH_RA	brain:	n/a
37	chr2:10581770-10581820	SKMC	muscle:	n/a
38	chr2:10571959-10572009	GM06990	blood:	n/a
39	chr2:10581667-10581717	AG09319	gingival:	n/a
40	chr2:10572524-10572574	SKMC	muscle:	n/a
41	chr2:10572946-10572996	AG04450	lung:	fetal
42	chr2:10588838-10588888	SAEC	small airway:	n/a
43	chr2:10588068-10588118	AoSMC	blood vessel:	n/a
44	chr2:10588434-10588484	HCT-116	colon:	n/a
45	chr2:10588471-10588521	SAEC	small airway:	n/a
46	chr2:10574659-10574709	NB4	blood:	n/a
47	chr2:10588232-10588282	CMK	blood:	n/a
48	chr2:10588493-10588543	CMK	blood:	n/a
49	chr2:10588468-10588518	AG09309	skin:	n/a
50	chr2:10588838-10588888	LNCaP	prostate:	n/a

(count:108 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr2:10274850..10277272-chr2:10576045..10578779,2	MCF-7	breast:
2	chr2:10220116..10221674-chr2:10575778..10578568,2	K562	blood:
3	chr2:10574523..10578424-chr2:10586610..10589556,4	MCF-7	breast:
4	chr19:39897578..39898321-chr2:10587983..10588853,2	Hela-S3	cervix:
5	chr2:10297096..10298028-chr2:10575136..10575688,2	K562	blood:
6	chr2:10583289..10586276-chr2:10586900..10589856,4	MCF-7	breast:
7	chr2:10574850..10580139-chr2:10582463..10585343,4	MCF-7	breast:
8	chr11:125439070..125439799-chr2:10588616..10589170,2	HCT-116	colon:
9	chr2:10441623..10444177-chr2:10587166..10588748,2	K562	blood:
10	chr2:10581677..10583716-chr2:10618210..10620359,2	K562	blood:
11	chr2:10580034..10581693-chr2:10583711..10585512,2	MCF-7	breast:
12	chr2:10274887..10276601-chr2:10582184..10584969,2	K562	blood:
13	chr2:10278603..10281199-chr2:10574177..10576676,2	K562	blood:
14	chr2:10578985..10581205-chr2:10807616..10809942,2	K562	blood:
15	chr2:10206702..10209629-chr2:10574619..10577464,2	K562	blood:
16	chr2:10259653..10265917-chr2:10585320..10590295,8	MCF-7	breast:
17	chr2:10328469..10328995-chr2:10574784..10575648,2	MCF-7	breast:
18	chr2:10563342..10565914-chr2:10572638..10575512,2	K562	blood:
19	chr2:10212447..10213410-chr2:10575150..10575717,2	MCF-7	breast:
20	chr14:94547166..94547694-chr2:10588672..10589265,2	HCT-116	colon:
21	chr2:10359472..10362167-chr2:10583974..10586621,2	K562	blood:
22	chr1:151881565..151882078-chr2:10571567..10572355,2	Hela-S3	cervix:
23	chr2:10578985..10580934-chr2:10807616..10809807,2	K562	blood:
24	chr2:10441623..10444200-chr2:10586906..10588748,2	K562	blood:
25	chr2:10583602..10586485-chr2:10613524..10616092,2	K562	blood:
26	chr2:10580034..10581693-chr2:10583711..10585512,2	MCF-7	breast:
27	chr2:10266406..10268179-chr2:10582965..10585269,2	K562	blood:
28	chr12:53400061..53400730-chr2:10588280..10589184,2	Hela-S3	cervix:
29	chr2:10177980..10179820-chr2:10584164..10586131,2	K562	blood:
30	chr2:10191630..10196148-chr2:10586386..10589794,5	K562	blood:
31	chr2:10257984..10265070-chr2:10582045..10589780,17	K562	blood:
32	chr1:85725140..85725768-chr2:10588151..10588652,2	MCF-7	breast:
33	chr2:9907009..9909399-chr2:10572837..10575430,2	K562	blood:
34	chr2:10260358..10263740-chr2:10578829..10581439,6	K562	blood:
35	chr2:10574850..10580139-chr2:10582463..10585343,4	MCF-7	breast:
36	chr2:10576963..10578657-chr2:10781507..10783403,2	K562	blood:
37	chr2:10584220..10586892-chr2:10686951..10688711,2	K562	blood:
38	chr2:10328190..10329252-chr2:10575138..10575869,4	MCF-7	breast:
39	chr1:11866723..11867645-chr2:10588785..10589744,2	Hela-S3	cervix:
40	chr2:10328063..10328629-chr2:10575089..10575716,3	K562	blood:
41	chr2:10260468..10264697-chr2:10574031..10578504,11	K562	blood:
42	chr2:10259215..10279610-chr2:10567557..10581613,45	K562	blood:
43	chr2:10571135..10572690-chr2:10575390..10577231,2	K562	blood:
44	chr17:56708807..56709356-chr2:10588054..10588762,2	Hela-S3	cervix:
45	chr2:10167700..10169244-chr2:10577457..10579553,2	K562	blood:
46	chr18:32072933..32074749-chr2:10587681..10589883,2	MCF-7	breast:
47	chr2:10277705..10280483-chr2:10573985..10576380,2	MCF-7	breast:
48	chr2:10555615..10558543-chr2:10573607..10576166,2	K562	blood:
49	chr2:10581035..10582598-chr2:10587510..10589157,2	MCF-7	breast:
50	chr2:10580061..10581971-chr2:10592893..10594912,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HPCAL1-3	chr2:10573604-10573956	NONHSAT069099
2	lnc-HPCAL1-1	chr2:10588861-10590831	NONHSAT069104
3	lnc-HPCAL1-3	chr2:10573351-10573539	NONHSAT069099

No data

Variant related genes	Relation type
ODC1	TF binding region
SNORA80B	TF binding region
ENSG00000257135	TF binding region
ENSG00000217258	TF binding region
ODC1	CpG island
SNORA80B	CpG island
ENSG00000257135	CpG island
ENSG00000217258	CpG island
ENSG00000136807	chromatin interactions
ENSG00000149547	chromatin interactions
ENSG00000257135	chromatin interactions
ENSG00000128016	chromatin interactions
ENSG00000148303	chromatin interactions
ENSG00000090020	chromatin interactions
ENSG00000272524	chromatin interactions
ENSG00000149269	chromatin interactions
ENSG00000115750	chromatin interactions
ENSG00000115758	chromatin interactions
ENSG00000162642	chromatin interactions
ENSG00000242110	chromatin interactions
ENSG00000165948	chromatin interactions
ENSG00000206633	chromatin interactions
ENSG00000159445	chromatin interactions
ENSG00000217258	chromatin interactions
ENSG00000134769	chromatin interactions
ENSG00000163009	chromatin interactions
ENSG00000063046	chromatin interactions
ENSG00000171848	chromatin interactions
ENSG00000115756	chromatin interactions
ENSG00000271787	chromatin interactions
ENSG00000198276	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000172059	chromatin interactions
ENSG00000264030	chromatin interactions
ENSG00000089737	chromatin interactions
ENSG00000205795	chromatin interactions
ENSG00000233502	chromatin interactions
ENSG00000177000	chromatin interactions
ENSG00000133056	chromatin interactions
ENSG00000115761	chromatin interactions
ENSG00000148297	chromatin interactions
TDP1	miRNA target sites

Extended variants
information (count: 923 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:923 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11904157	chr2:10569021-10569022	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11903106	chr2:10569112-10569113	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs534945505	chr2:10569123-10569124	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs563948089	chr2:10569129-10569130	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs4507071	chr2:10569140-10569141	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs546931215	chr2:10569158-10569159	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs73914082	chr2:10569187-10569188	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs183948755	chr2:10569194-10569195	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs11904263	chr2:10569230-10569231	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs186210356	chr2:10569378-10569379	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs13034097	chr2:10569401-10569402	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs10171725	chr2:10569410-10569411	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs190567838	chr2:10569427-10569428	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs13001562	chr2:10569428-10569429	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs13001563	chr2:10569430-10569431	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs112588277	chr2:10569437-10569438	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs62127078	chr2:10569520-10569521	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs62127079	chr2:10569532-10569533	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs76231509	chr2:10569552-10569553	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs77746254	chr2:10569564-10569565	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs111214546	chr2:10569589-10569590	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs537871138	chr2:10569670-10569671	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs182811410	chr2:10569681-10569682	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs111214579	chr2:10569695-10569696	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs111214730	chr2:10569718-10569719	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs111214897	chr2:10569743-10569744	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs10196400	chr2:10569757-10569758	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs28856335	chr2:10569764-10569765	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs28804687	chr2:10569767-10569768	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs111214782	chr2:10569770-10569771	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs182611013	chr2:10569798-10569799	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs200977217	chr2:10569824-10569825	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs2430430	chr2:10569843-10569844	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs112888094	chr2:10569857-10569858	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs187737917	chr2:10569862-10569863	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs193120356	chr2:10569873-10569874	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs184617492	chr2:10569897-10569898	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs141260567	chr2:10569931-10569932	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs112483972	chr2:10569948-10569949	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs13007680	chr2:10569962-10569963	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs146264675	chr2:10569966-10569967	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs575561131	chr2:10569972-10569973	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs543870742	chr2:10569995-10569996	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs559645034	chr2:10570012-10570013	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs74891064	chr2:10570041-10570042	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs114148214	chr2:10570191-10570192	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs192086036	chr2:10570214-10570215	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs377131020	chr2:10570221-10570222	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs549075141	chr2:10570222-10570223	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs561137305	chr2:10570285-10570286	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923524	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1325 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10549000-10570400	Weak transcription	Psoas Muscle	Psoas
2	chr2:10549600-10572400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:10550200-10571800	Weak transcription	Small Intestine	intestine
4	chr2:10551200-10574800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:10553000-10573200	Weak transcription	K562	blood
6	chr2:10554600-10579200	Weak transcription	NHDF-Ad	bronchial
7	chr2:10554800-10572600	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:10555800-10572600	Weak transcription	HSMM	muscle
9	chr2:10559800-10569200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:10561200-10569200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:10562600-10569400	Weak transcription	Brain Substantia Nigra	brain
12	chr2:10563000-10575000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:10563600-10570200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:10563600-10571800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:10563800-10572000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:10563800-10572000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:10563800-10572200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:10564600-10569200	Genic enhancers	Fetal Muscle Leg	muscle
19	chr2:10564800-10570200	Weak transcription	Hela-S3	cervix
20	chr2:10565000-10571000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:10565200-10571400	Weak transcription	Primary B cells from cord blood	blood
22	chr2:10565200-10572200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:10565400-10572800	Weak transcription	NH-A	brain
24	chr2:10566000-10572000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:10566400-10569200	Weak transcription	Brain Anterior Caudate	brain
26	chr2:10566600-10572000	Weak transcription	Esophagus	oesophagus
27	chr2:10566600-10572200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:10566800-10571800	Weak transcription	NHEK	skin
29	chr2:10567000-10569200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:10567000-10572400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:10567000-10578600	Weak transcription	HSMMtube	muscle
32	chr2:10567200-10572000	Weak transcription	A549	lung
33	chr2:10567200-10572400	Weak transcription	Ovary	ovary
34	chr2:10567200-10572400	Weak transcription	HMEC	breast
35	chr2:10567200-10572400	Weak transcription	NHLF	lung
36	chr2:10567200-10572600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:10567200-10579800	Weak transcription	Brain Hippocampus Middle	brain
38	chr2:10567400-10569200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr2:10567400-10572400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:10567600-10571800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:10567800-10569200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:10567800-10569200	Genic enhancers	Fetal Intestine Small	intestine
43	chr2:10568000-10569200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr2:10568200-10569200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr2:10568200-10569200	Enhancers	Stomach Mucosa	stomach
46	chr2:10568200-10570200	Weak transcription	Thymus	Thymus
47	chr2:10568200-10571200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr2:10568200-10572400	Weak transcription	Right Ventricle	heart
49	chr2:10568200-10572600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:10568200-10572600	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links