Variant report

Variant	nsv1003263
Chromosome Location	chr2:53863287-54055359
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2570)
CpG islands
(count:1895)
Chromatin interactive
region (count:95)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2570 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:53997093-53997781	K562	blood:	n/a	n/a
2	ARID3A	chr2:53995335-53995348	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:53994466-53995077	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:54013939-54014278	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:53994395-53994906	K562	blood:	n/a	n/a
6	ARID3A	chr2:54053632-54054571	HepG2	liver:	n/a	chr2:54054030-54054046
7	ARID3A	chr2:53942779-53943047	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:53895440-53896413	K562	blood:	n/a	n/a
9	ARID3A	chr2:53928413-53928764	K562	blood:	n/a	n/a
10	ARID3A	chr2:53995220-53995292	K562	blood:	n/a	n/a
11	ARID3A	chr2:54014754-54014966	HepG2	liver:	n/a	n/a
12	ARID3A	chr2:53992942-53993249	K562	blood:	n/a	n/a
13	ARID3A	chr2:54013967-54014227	K562	blood:	n/a	n/a
14	ATF1	chr2:53895683-53896356	K562	blood:	n/a	n/a
15	ATF1	chr2:54006140-54006197	K562	blood:	n/a	n/a
16	ATF2	chr2:53994431-53995399	GM12878	blood:	n/a	n/a
17	ATF2	chr2:54013356-54014222	GM12878	blood:	n/a	n/a
18	ATF2	chr2:53994946-53995638	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr2:53978747-53979260	GM12878	blood:	n/a	n/a
20	ATF2	chr2:53978778-53979292	GM12878	blood:	n/a	n/a
21	ATF2	chr2:54013377-54014384	GM12878	blood:	n/a	n/a
22	ATF2	chr2:53994480-53995752	GM12878	blood:	n/a	n/a
23	ATF2	chr2:54013962-54014379	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF3	chr2:53895648-53896172	K562	blood:	n/a	chr2:53895893-53895908
25	ATF3	chr2:54013401-54014365	A549	lung:	n/a	n/a
26	BACH1	chr2:53996602-53996604	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr2:53994612-53995115	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr2:53997428-53997751	K562	blood:	n/a	chr2:53997554-53997568
29	BACH1	chr2:53978808-53978814	K562	blood:	n/a	n/a
30	BACH1	chr2:53967469-53967478	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr2:54004710-54004737	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr2:53896184-53896206	K562	blood:	n/a	n/a
33	BACH1	chr2:53994620-53995090	K562	blood:	n/a	n/a
34	BACH1	chr2:54013398-54013841	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr2:53928536-53928700	K562	blood:	n/a	n/a
36	BACH1	chr2:53996489-53996756	K562	blood:	n/a	n/a
37	BATF	chr2:53961081-53961282	GM12878	blood:	n/a	n/a
38	BATF	chr2:53978902-53979193	GM12878	blood:	n/a	chr2:53979174-53979183
39	BATF	chr2:53978841-53979183	GM12878	blood:	n/a	chr2:53979174-53979183
40	BCL11A	chr2:53978969-53979233	GM12878	blood:	n/a	n/a
41	BCL3	chr2:54013707-54014880	A549	lung:	n/a	chr2:54014527-54014540 chr2:54013932-54013945
42	BCL3	chr2:53994333-53995803	A549	lung:	n/a	chr2:53994965-53994978
43	BCL3	chr2:53994403-53995515	A549	lung:	n/a	chr2:53994965-53994978
44	BCL3	chr2:54013704-54014465	A549	lung:	n/a	chr2:54013932-54013945
45	BCLAF1	chr2:54013722-54014647	GM12878	blood:	n/a	chr2:54014527-54014540 chr2:54013932-54013945
46	BCLAF1	chr2:53994376-53995479	GM12878	blood:	n/a	chr2:53994965-53994978
47	BCLAF1	chr2:54013379-54014303	GM12878	blood:	n/a	chr2:54013932-54013945
48	BHLHE40	chr2:53895735-53896261	K562	blood:	n/a	n/a
49	BHLHE40	chr2:53996641-53997026	K562	blood:	n/a	n/a
50	BHLHE40	chr2:54054021-54054406	HepG2	liver:	n/a	n/a

(count:1895 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:54013802-54013852	IMR90	lung:	fetal
2	chr2:54015318-54015368	IMR90	lung:	fetal
3	chr2:54013912-54013962	SK-N-SH_RA	brain:	n/a
4	chr2:54046438-54046488	HCM	heart:	n/a
5	chr2:54013802-54013852	IMR90	lung:	fetal
6	chr2:54015318-54015368	IMR90	lung:	fetal
7	chr2:54013912-54013962	SK-N-SH_RA	brain:	n/a
8	chr2:54046438-54046488	HCM	heart:	n/a
9	chr2:53868889-53868939	NH-A	brain:	n/a
10	chr2:53994856-53994906	HIPEpiC	eye:	n/a
11	chr2:53994655-53994705	AG04450	lung:	fetal
12	chr2:54014003-54014053	HL-60	blood:	n/a
13	chr2:53994733-53994783	HEEpiC	esophagus:	n/a
14	chr2:54013944-54013994	HIPEpiC	eye:	n/a
15	chr2:54013912-54013962	SKMC	muscle:	n/a
16	chr2:53898063-53898113	SAEC	small airway:	n/a
17	chr2:53994655-53994705	AG09309	skin:	n/a
18	chr2:53994559-53994609	PANC-1	pancreas:	n/a
19	chr2:53868889-53868939	PFSK-1	brain:	n/a
20	chr2:53994856-53994906	GM06990	blood:	n/a
21	chr2:54013944-54013994	HUVEC	blood vessel:	n/a
22	chr2:54014491-54014541	HCT-116	colon:	n/a
23	chr2:53994733-53994783	AG04449	skin:	fetal
24	chr2:54013874-54013924	HUVEC	blood vessel:	n/a
25	chr2:53995338-53995388	Caco-2	colon:	n/a
26	chr2:53994733-53994783	GM12878	blood:	n/a
27	chr2:53994617-53994667	ECC-1	luminal epithelium:	n/a
28	chr2:54013962-54014012	BJ	skin:	n/a
29	chr2:54014491-54014541	AG09319	gingival:	n/a
30	chr2:53994733-53994783	HL-60	blood:	n/a
31	chr2:54015318-54015368	Jurkat	blood:	n/a
32	chr2:54014003-54014053	HRCEpiC	kidney:	n/a
33	chr2:54013962-54014012	Jurkat	blood:	n/a
34	chr2:54017536-54017586	Hepatocyte	liver:	n/a
35	chr2:54013912-54013962	U87	brain:	n/a
36	chr2:53995114-53995164	Hela-S3	cervix:	n/a
37	chr2:53994763-53994813	NHBE	bronchial:	n/a
38	chr2:53994856-53994906	NHDF-neo	bronchial:	n/a
39	chr2:54014491-54014541	BE2_C	brain:	n/a
40	chr2:53994856-53994906	PANC-1	pancreas:	n/a
41	chr2:54014180-54014230	NHBE	bronchial:	n/a
42	chr2:54014461-54014511	HRE	kidney:	n/a
43	chr2:54014491-54014541	H1-hESC	embryonic stem cell:	embryo
44	chr2:53995041-53995091	PANC-1	pancreas:	n/a
45	chr2:53994733-53994783	HCF	heart:	n/a
46	chr2:54015232-54015282	HMEC	breast:	n/a
47	chr2:53994733-53994783	U87	brain:	n/a
48	chr2:53995114-53995164	U87	brain:	n/a
49	chr2:54014928-54014978	Hepatocyte	liver:	n/a
50	chr2:54015232-54015282	T-47D	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:53926842..53929678-chr2:54004293..54006164,2	K562	blood:
2	chr2:53993911..53997608-chr2:54000470..54007207,10	MCF-7	breast:
3	chr2:53993579..53997009-chr2:54011416..54015067,4	MCF-7	breast:
4	chr2:53925981..53927589-chr2:53940700..53943084,2	K562	blood:
5	chr2:53931144..53933214-chr2:53937294..53940246,2	K562	blood:
6	chr2:53927372..53929338-chr2:53931727..53933877,2	K562	blood:
7	chr2:53974958..53977915-chr2:53980564..53982281,2	K562	blood:
8	chr2:53970587..53973374-chr2:53992817..53996339,3	K562	blood:
9	chr2:53883186..53885519-chr2:53886263..53888852,2	K562	blood:
10	chr2:54000755..54005872-chr2:54012660..54015787,4	MCF-7	breast:
11	chr2:54054213..54056841-chr2:54086563..54088065,2	K562	blood:
12	chr11:62609118..62609651-chr2:54053034..54053551,3	Hela-S3	cervix:
13	chr2:54018818..54021003-chr2:54021378..54023244,2	K562	blood:
14	chr2:53894424..53897447-chr2:53898122..53902216,4	K562	blood:
15	chr2:53996518..54000180-chr2:54012874..54016675,4	K562	blood:
16	chr2:53993226..53995019-chr2:54030146..54032041,3	K562	blood:
17	chr2:54008638..54010431-chr2:54015192..54016791,2	K562	blood:
18	chr2:54008226..54010680-chr2:54013442..54015348,3	MCF-7	breast:
19	chr2:53883597..53885623-chr2:53885808..53888099,2	MCF-7	breast:
20	chr2:53949409..53951180-chr2:53951221..53954133,2	K562	blood:
21	chr2:53994110..53996548-chr2:54024126..54025670,2	K562	blood:
22	chr2:54012138..54014028-chr2:54027548..54031166,3	K562	blood:
23	chr2:53926842..53929678-chr2:54004293..54006164,2	K562	blood:
24	chr2:54019955..54022961-chr2:54036087..54038626,3	MCF-7	breast:
25	chr1:11966902..11969473-chr2:53944359..53947359,6	MCF-7	breast:
26	chr2:53967382..53969707-chr2:53992975..53994926,3	K562	blood:
27	chr10:103124609..103125127-chr2:54053027..54053548,2	Hela-S3	cervix:
28	chr2:54012419..54016440-chr2:54016510..54019549,4	K562	blood:
29	chr17:41465197..41465712-chr2:54052527..54053034,3	Hela-S3	cervix:
30	chr2:53887538..53889702-chr2:53894811..53897627,2	K562	blood:
31	chr2:53863876..53866246-chr2:53873113..53875135,2	K562	blood:
32	chr2:53687389..53688064-chr2:53942616..53943230,2	MCF-7	breast:
33	chr2:53993518..53997677-chr2:54010995..54015634,7	MCF-7	breast:
34	chr17:70758626..70759130-chr2:53924202..53924904,2	MCF-7	breast:
35	chr2:53993518..53997677-chr2:54010995..54015634,7	MCF-7	breast:
36	chr2:54019493..54021003-chr2:54021744..54023776,2	K562	blood:
37	chr2:53994500..53995088-chr5:176784213..176785083,2	NB4	blood:
38	chr2:53901787..53904265-chr2:53994019..53996587,2	K562	blood:
39	chr2:54006024..54008035-chr2:54009628..54012351,2	K562	blood:
40	chr2:54043746..54045589-chr2:54047381..54048993,2	MCF-7	breast:
41	chr1:11967949..11968659-chr2:53945359..53946359,5	MCF-7	breast:
42	chr2:54013384..54018041-chr2:54019563..54022732,5	K562	blood:
43	chr12:120730450..120731263-chr2:53994688..53995293,2	Hela-S3	cervix:
44	chr2:53887538..53889702-chr2:53894811..53897627,2	K562	blood:
45	chr2:54043746..54045589-chr2:54047381..54048993,2	MCF-7	breast:
46	chr2:53882348..53885519-chr2:53886263..53888852,3	K562	blood:
47	chr2:53974958..53977915-chr2:53980564..53982281,2	K562	blood:
48	chr2:53926965..53929338-chr2:53930911..53933227,2	K562	blood:
49	chr2:53926965..53929338-chr2:53930911..53933227,2	K562	blood:
50	chr1:11967940..11968599-chr2:53945834..53946359,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHAC2-5	chr2:53941521-53941719	NONHSAT070694
2	lnc-GPR75-1	chr2:54050360-54050728	expReg_chr2_3947_-
3	lnc-GPR75-2	chr2:53990098-53992017	NONHSAT070699
4	lnc-CHAC2-5	chr2:53927406-53927679	NONHSAT070694
5	lnc-GPR75-4	chr2:53889616-53891963	NONHSAT070692

No data

Variant related genes	Relation type
GPR75-ASB3	TF binding region
CHAC2	TF binding region
ERLEC1	TF binding region
ENSG00000264740	TF binding region
GPR75-ASB3	CpG island
CHAC2	CpG island
ERLEC1	CpG island
ENSG00000264740	CpG island
ENSG00000199347	chromatin interactions
ENSG00000232536	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000104064	chromatin interactions
ENSG00000143942	chromatin interactions
ENSG00000135974	chromatin interactions
ENSG00000270898	chromatin interactions
ENSG00000068912	chromatin interactions
ENSG00000143367	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000272994	chromatin interactions
ENSG00000119737	chromatin interactions
ENSG00000244879	chromatin interactions
ENSG00000068878	chromatin interactions
ENSG00000222414	chromatin interactions
ENSG00000170634	chromatin interactions
ENSG00000115239	chromatin interactions
ENSG00000169220	chromatin interactions

Extended variants
information (count: 8508 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:8508 , 50 per page) page: 1 2 3 4 5 6 7 ... 171

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369751268	chr2:53863287-53863288	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs539854527	chr2:53863293-53863294	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs547085196	chr2:53863294-53863295	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs182777319	chr2:53863295-53863296	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs534767484	chr2:53863307-53863308	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs554797681	chr2:53863324-53863325	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs574625084	chr2:53863385-53863386	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs187757717	chr2:53863397-53863398	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs148211911	chr2:53863431-53863432	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs576745991	chr2:53863447-53863448	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs545399457	chr2:53863458-53863459	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs141217024	chr2:53863460-53863461	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs572640533	chr2:53863482-53863483	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs542014664	chr2:53863506-53863507	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs537277692	chr2:53863543-53863544	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs192517278	chr2:53863569-53863570	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs184735479	chr2:53863610-53863611	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs189507933	chr2:53863661-53863662	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs17045026	chr2:53863678-53863679	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs547103804	chr2:53863685-53863686	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs533316006	chr2:53863686-53863687	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs556666670	chr2:53863704-53863705	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs547024496	chr2:53863723-53863724	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs566970615	chr2:53863733-53863734	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs535984680	chr2:53863749-53863750	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs548067984	chr2:53863774-53863775	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs145381064	chr2:53863775-53863776	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs536872406	chr2:53863777-53863778	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs557174345	chr2:53863788-53863789	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs115890914	chr2:53863794-53863795	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs560504243	chr2:53863810-53863811	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs137877376	chr2:53863862-53863863	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs552595358	chr2:53863887-53863888	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs192021345	chr2:53863889-53863890	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs142398194	chr2:53863907-53863908	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs374162145	chr2:53863911-53863912	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs555186431	chr2:53863912-53863913	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs538357294	chr2:53863973-53863974	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs185252285	chr2:53863976-53863977	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs113035364	chr2:53863977-53863978	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs6715313	chr2:53864008-53864009	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs564759135	chr2:53864019-53864020	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs189752942	chr2:53864033-53864034	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs540611116	chr2:53864036-53864037	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs181414386	chr2:53864040-53864041	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs17045029	chr2:53864108-53864109	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs370243034	chr2:53864130-53864131	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs549369099	chr2:53864161-53864162	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs186044099	chr2:53864169-53864170	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs370787444	chr2:53864170-53864171	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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	18451855	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4732 , 50 per page) page: 1 2 3 4 5 6 7 ... 95

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53857400-53868600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:53858800-53863400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:53860800-53863600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:53861000-53863600	Weak transcription	Osteobl	bone
5	chr2:53861200-53863600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:53863000-53864600	Weak transcription	Fetal Brain Male	brain
7	chr2:53863600-53864400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:53863600-53864400	Enhancers	Osteobl	bone
9	chr2:53863600-53864800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:53864600-53865000	Enhancers	Fetal Brain Male	brain
11	chr2:53865000-53868000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:53865000-53870000	Weak transcription	Fetal Brain Male	brain
13	chr2:53866800-53867000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:53868000-53869000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:53868200-53868400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:53868200-53868600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:53868200-53869400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:53868200-53869800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:53868400-53869000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:53868400-53869000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr2:53868400-53869400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:53868400-53869600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:53868600-53868800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:53868600-53869000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr2:53868600-53869200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:53868600-53869200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:53868600-53869600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr2:53868800-53869000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr2:53868800-53869200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:53869000-53869400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr2:53869000-53869400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr2:53869200-53872600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:53869200-53873200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:53869400-53873200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:53869400-53873200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:53869400-53873400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr2:53869400-53873600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:53869600-53873400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:53869600-53873800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr2:53870000-53870400	Enhancers	Fetal Brain Male	brain
41	chr2:53872600-53873600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr2:53873200-53874400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr2:53873200-53874400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr2:53873200-53874600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr2:53873400-53874400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr2:53873400-53874600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:53873600-53874400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr2:53873800-53874400	Enhancers	H9 Cell Line	embryonic stem cell
49	chr2:53873800-53874600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:53874200-53935000	Weak transcription	Pancreas	Pancrea

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