Variant report

Variant	nsv874463
Chromosome Location	chr2:85853653-85946708
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2283)
CpG islands
(count:1224)
Chromatin interactive
region (count:125)
LncRNA
region (count:37)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2283 , 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	chr2:85932800-85932803	K562	blood:	n/a	n/a
2	ATF1	chr2:85944576-85945418	K562	blood:	n/a	n/a
3	ATF1	chr2:85890015-85890316	K562	blood:	n/a	n/a
4	ATF1	chr2:85934398-85934782	K562	blood:	n/a	n/a
5	ATF2	chr2:85931795-85932521	GM12878	blood:	n/a	n/a
6	ATF2	chr2:85931737-85932545	GM12878	blood:	n/a	n/a
7	ATF2	chr2:85934284-85934800	GM12878	blood:	n/a	n/a
8	ATF3	chr2:85932668-85933082	K562	blood:	n/a	n/a
9	ATF3	chr2:85929237-85929770	HCT-116	colon:	n/a	n/a
10	ATF3	chr2:85876632-85877281	A549	lung:	n/a	n/a
11	ATF3	chr2:85932589-85933235	HCT-116	colon:	n/a	n/a
12	ATF3	chr2:85932552-85933206	HCT-116	colon:	n/a	n/a
13	ATF3	chr2:85889986-85890355	K562	blood:	n/a	n/a
14	ATF3	chr2:85906184-85906724	A549	lung:	n/a	n/a
15	BACH1	chr2:85934477-85934677	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr2:85906329-85906531	K562	blood:	n/a	n/a
17	BATF	chr2:85896696-85896947	GM12878	blood:	n/a	chr2:85896825-85896836 chr2:85896847-85896858
18	BATF	chr2:85932066-85932447	GM12878	blood:	n/a	n/a
19	BATF	chr2:85932062-85932409	GM12878	blood:	n/a	n/a
20	BATF	chr2:85855842-85856117	GM12878	blood:	n/a	n/a
21	BATF	chr2:85934445-85934705	GM12878	blood:	n/a	n/a
22	BCL11A	chr2:85931860-85932487	GM12878	blood:	n/a	n/a
23	BCL11A	chr2:85932056-85932489	GM12878	blood:	n/a	n/a
24	BCL11A	chr2:85869836-85870191	GM12878	blood:	n/a	chr2:85870000-85870009
25	BCL11A	chr2:85875299-85875532	GM12878	blood:	n/a	n/a
26	BCL3	chr2:85876777-85877274	A549	lung:	n/a	n/a
27	BCL3	chr2:85906052-85906724	A549	lung:	n/a	n/a
28	BCLAF1	chr2:85864540-85864976	GM12878	blood:	n/a	n/a
29	BCLAF1	chr2:85932045-85932549	GM12878	blood:	n/a	n/a
30	BCLAF1	chr2:85934259-85934773	GM12878	blood:	n/a	n/a
31	BHLHE40	chr2:85934373-85934808	GM12878	blood:	n/a	n/a
32	BHLHE40	chr2:85930244-85930301	GM12878	blood:	n/a	n/a
33	BHLHE40	chr2:85932779-85933037	HepG2	liver:	n/a	n/a
34	BHLHE40	chr2:85914457-85914661	K562	blood:	n/a	chr2:85914497-85914506 chr2:85914496-85914505 chr2:85914491-85914512
35	BHLHE40	chr2:85869929-85870182	GM12878	blood:	n/a	n/a
36	BHLHE40	chr2:85934409-85934783	K562	blood:	n/a	n/a
37	BHLHE40	chr2:85890078-85890337	K562	blood:	n/a	n/a
38	BHLHE40	chr2:85944516-85945312	K562	blood:	n/a	n/a
39	BHLHE40	chr2:85914370-85914640	A549	lung:	n/a	chr2:85914497-85914506 chr2:85914496-85914505 chr2:85914491-85914512
40	BHLHE40	chr2:85896721-85897032	GM12878	blood:	n/a	n/a
41	BHLHE40	chr2:85931853-85932480	GM12878	blood:	n/a	n/a
42	BHLHE40	chr2:85906353-85906635	GM12878	blood:	n/a	n/a
43	BHLHE40	chr2:85906376-85906649	K562	blood:	n/a	n/a
44	BHLHE40	chr2:85864670-85864880	K562	blood:	n/a	n/a
45	BHLHE40	chr2:85932790-85932961	K562	blood:	n/a	n/a
46	BRCA1	chr2:85906354-85906610	Hela-S3	cervix:	n/a	n/a
47	BRCA1	chr2:85864637-85864874	Hela-S3	cervix:	n/a	n/a
48	BRCA1	chr2:85932715-85933018	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr2:85906578-85906588	GM12878	blood:	n/a	n/a
50	BRCA1	chr2:85906368-85906529	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1224 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:85921252-85921302	AG04450	lung:	fetal
2	chr2:85921252-85921302	IMR90	lung:	fetal
3	chr2:85921252-85921302	HIPEpiC	eye:	n/a
4	chr2:85925749-85925799	HRCEpiC	kidney:	n/a
5	chr2:85921252-85921302	AG04450	lung:	fetal
6	chr2:85921252-85921302	IMR90	lung:	fetal
7	chr2:85921252-85921302	HIPEpiC	eye:	n/a
8	chr2:85925749-85925799	HRCEpiC	kidney:	n/a
9	chr2:85914525-85914575	HCM	heart:	n/a
10	chr2:85924685-85924735	HAEpiC	amniotic membrane:	n/a
11	chr2:85921252-85921302	NB4	blood:	n/a
12	chr2:85896494-85896544	Caco-2	colon:	n/a
13	chr2:85890281-85890331	HCF	heart:	n/a
14	chr2:85921283-85921333	GM06990	blood:	n/a
15	chr2:85895360-85895410	HNPCEpiC	eye:	n/a
16	chr2:85876314-85876364	HRE	kidney:	n/a
17	chr2:85906657-85906707	NT2-D1	testis:	n/a
18	chr2:85896001-85896051	NT2-D1	testis:	n/a
19	chr2:85896001-85896051	HMEC	breast:	n/a
20	chr2:85906657-85906707	GM06990	blood:	n/a
21	chr2:85921252-85921302	AG09319	gingival:	n/a
22	chr2:85921036-85921086	PFSK-1	brain:	n/a
23	chr2:85925749-85925799	HCPEpiC	choroid plexus:	n/a
24	chr2:85906657-85906707	MCF-7	breast:	n/a
25	chr2:85921963-85922013	HCM	heart:	n/a
26	chr2:85914525-85914575	GM12878	blood:	n/a
27	chr2:85896001-85896051	T-47D	breast:	n/a
28	chr2:85921036-85921086	AoSMC	blood vessel:	n/a
29	chr2:85921283-85921333	A549	lung:	n/a
30	chr2:85906657-85906707	GM12892	blood:	n/a
31	chr2:85925749-85925799	K562	blood:	n/a
32	chr2:85876314-85876364	HCM	heart:	n/a
33	chr2:85895360-85895410	SAEC	small airway:	n/a
34	chr2:85895360-85895410	SK-N-SH_RA	brain:	n/a
35	chr2:85921036-85921086	SK-N-MC	brain:	n/a
36	chr2:85933069-85933119	PrEC	prostate:	n/a
37	chr2:85925749-85925799	HCT-116	colon:	n/a
38	chr2:85933069-85933119	GM06990	blood:	n/a
39	chr2:85933069-85933119	A549	lung:	n/a
40	chr2:85896494-85896544	Jurkat	blood:	n/a
41	chr2:85890281-85890331	BJ	skin:	n/a
42	chr2:85895048-85895098	HRPEpiC	eye:	n/a
43	chr2:85933069-85933119	AG04450	lung:	fetal
44	chr2:85896539-85896589	Jurkat	blood:	n/a
45	chr2:85890281-85890331	Hepatocyte	liver:	n/a
46	chr2:85925749-85925799	NHDF-neo	bronchial:	n/a
47	chr2:85921036-85921086	H1-hESC	embryonic stem cell:	embryo
48	chr2:85921438-85921488	H1-hESC	embryonic stem cell:	embryo
49	chr2:85925749-85925799	HCF	heart:	n/a
50	chr2:85933069-85933119	SKMC	muscle:	n/a

(count:125 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr2:85839135..85840661-chr2:85928083..85930394,2	MCF-7	breast:
2	chr2:85843668..85846155-chr2:85873712..85875866,3	K562	blood:
3	chr2:85850244..85853490-chr2:85856097..85860069,4	K562	blood:
4	chr2:85905086..85909626-chr2:85912458..85918293,6	K562	blood:
5	chr2:85932175..85937503-chr2:85937871..85941981,7	K562	blood:
6	chr2:85932175..85937503-chr2:85937871..85941981,7	K562	blood:
7	chr2:85883102..85885218-chr2:85885321..85888097,2	K562	blood:
8	chr2:85884543..85886105-chr2:85886734..85889252,2	MCF-7	breast:
9	chr2:85917153..85919926-chr2:85924436..85926788,2	K562	blood:
10	chr2:85886996..85889867-chr2:85891019..85894482,4	MCF-7	breast:
11	chr2:85850679..85855017-chr2:85872939..85876672,5	K562	blood:
12	chr2:85856113..85858844-chr2:85885190..85887112,2	MCF-7	breast:
13	chr2:85864338..85865140-chr2:85944938..85945570,2	K562	blood:
14	chr2:85906030..85906925-chr2:86041040..86041639,4	MCF-7	breast:
15	chr2:85871951..85874298-chr2:85875762..85878640,2	MCF-7	breast:
16	chr2:85874969..85876278-chr2:85944849..85945850,3	MCF-7	breast:
17	chr2:85828171..85829856-chr2:85877693..85880111,2	MCF-7	breast:
18	chr2:85906061..85906876-chr2:85945247..85945851,2	MCF-7	breast:
19	chr2:85804448..85806570-chr2:85864637..85866204,2	MCF-7	breast:
20	chr2:85879386..85881998-chr2:85891410..85893784,2	MCF-7	breast:
21	chr2:85843227..85844998-chr2:85942252..85944879,2	K562	blood:
22	chr2:85892613..85895581-chr2:85898917..85901318,2	K562	blood:
23	chr2:85858432..85860291-chr2:85861960..85864118,2	K562	blood:
24	chr2:85934009..85937395-chr2:85940314..85944557,5	MCF-7	breast:
25	chr2:85936798..85938889-chr2:85946240..85947988,2	MCF-7	breast:
26	chr2:85763539..85766353-chr2:85881297..85884242,2	K562	blood:
27	chr2:85924610..85926408-chr2:85954711..85957464,2	K562	blood:
28	chr2:85886740..85890485-chr2:85890962..85895474,8	K562	blood:
29	chr2:85901871..85904801-chr2:85904981..85906586,2	MCF-7	breast:
30	chr2:85904933..85907760-chr2:85933076..85936019,2	MCF-7	breast:
31	chr2:85886384..85888298-chr2:85898868..85900454,2	MCF-7	breast:
32	chr2:85880829..85882437-chr2:85885388..85887097,2	K562	blood:
33	chr2:85855008..85857612-chr2:85860725..85862403,3	MCF-7	breast:
34	chr2:85912358..85914098-chr2:85920772..85923092,2	K562	blood:
35	chr2:85864268..85866624-chr2:85868016..85871094,4	K562	blood:
36	chr2:85938431..85940449-chr2:85945022..85946831,2	MCF-7	breast:
37	chr2:85941112..85944242-chr2:85945842..85948682,3	MCF-7	breast:
38	chr2:85856113..85858844-chr2:85885190..85887112,2	MCF-7	breast:
39	chr2:85944805..85946423-chr2:85948836..85951563,2	K562	blood:
40	chr2:85939322..85942030-chr2:85943448..85946013,3	K562	blood:
41	chr2:85889712..85892300-chr2:85895263..85898036,2	MCF-7	breast:
42	chr2:85860109..85864294-chr2:85864823..85868002,4	K562	blood:
43	chr2:85930415..85932618-chr2:85965102..85967438,2	K562	blood:
44	chr2:85843394..85846282-chr2:85852804..85855314,3	K562	blood:
45	chr2:85846395..85848017-chr2:85935471..85937032,2	K562	blood:
46	chr2:85848811..85851344-chr2:85851696..85853763,2	MCF-7	breast:
47	chr2:85914382..85917156-chr2:85991881..85994505,2	MCF-7	breast:
48	chr2:85905984..85906919-chr2:85955820..85956730,3	MCF-7	breast:
49	chr2:85919636..85921243-chr2:85926613..85928346,2	MCF-7	breast:
50	chr2:85883102..85885218-chr2:85885321..85888097,2	K562	blood:

(count:37 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GNLY-2	chr2:85922443-85922546	NONHSAT072044
2	lnc-GNLY-2	chr2:85922443-85922546	NONHSAT072039
3	lnc-GNLY-3	chr2:85905160-85905283	l_1876_chr2:85898899-85905283_thyroid
4	lnc-GNLY-2	chr2:85921876-85922046	NONHSAT072041
5	lnc-GNLY-2	chr2:85923081-85923655	NONHSAT072045
6	lnc-C2orf68-2	chr2:85886447-85886849	NONHSAT072034
7	lnc-GNLY-2	chr2:85921455-85921593	NONHSAT072042
8	lnc-C2orf68-2	chr2:85886447-85886805	NONHSAT072035
9	lnc-GNLY-2	chr2:85922443-85922546	NONHSAT072041
10	lnc-C2orf68-2	chr2:85890469-85890670	NONHSAT072037
11	lnc-C2orf68-2	chr2:85889337-85889402	NONHSAT072037
12	lnc-GNLY-2	chr2:85921549-85921593	NONHSAT072044
13	lnc-C2orf68-2	chr2:85888578-85888635	NONHSAT072034
14	lnc-GNLY-2	chr2:85923081-85923617	NONHSAT072041
15	lnc-GNLY-3	chr2:85895764-85895989	NONHSAT072038
16	lnc-SFTPB-2	chr2:85913176-85914170	NONHSAT072040
17	lnc-GNLY-3	chr2:85904630-85905146	l_1876_chr2:85898899-85905283_thyroid
18	lnc-GNLY-2	chr2:85923081-85923853	NONHSAT072039
19	lnc-GNLY-2	chr2:85921451-85921593	NONHSAT072041
20	lnc-GNLY-2	chr2:85923081-85923229	NONHSAT072042
21	lnc-GNLY-2	chr2:85922027-85922309	NONHSAT072045
22	lnc-GNLY-3	chr2:85898942-85899030	NONHSAT072038
23	lnc-GNLY-1	chr2:85942301-85943145	XLOC_001556
24	lnc-GNLY-2	chr2:85921876-85922046	NONHSAT072044
25	lnc-GNLY-2	chr2:85921876-85922546	NONHSAT072042
26	lnc-GNLY-2	chr2:85922443-85922546	NONHSAT072045
27	lnc-GNLY-3	chr2:85904630-85906025	NONHSAT072038
28	lnc-GNLY-2	chr2:85923081-85923179	NONHSAT072043
29	lnc-GNLY-3	chr2:85898900-85899030	l_1876_chr2:85898899-85905283_thyroid
30	lnc-GNLY-2	chr2:85925687-85925870	NONHSAT072043
31	lnc-GNLY-2	chr2:85923081-85923179	NONHSAT072044
32	lnc-GNLY-2	chr2:85921465-85922546	NONHSAT072043
33	lnc-GNLY-2	chr2:85924111-85924800	NONHSAT072043
34	lnc-GNLY-1	chr2:85938746-85938850	XLOC_001556
35	lnc-GNLY-2	chr2:85912298-85912344	NONHSAT072039
36	lnc-GNLY-2	chr2:85924111-85924224	NONHSAT072044
37	lnc-C2orf68-2	chr2:85888578-85888635	NONHSAT072035

No data

Variant related genes	Relation type
GNLY	TF binding region
USP39	TF binding region
SFTPB	TF binding region
ENSG00000203363	TF binding region
GNLY	CpG island
USP39	CpG island
SFTPB	CpG island
ENSG00000203363	CpG island
ENSG00000203363	chromatin interactions
ENSG00000199687	chromatin interactions
ENSG00000168878	chromatin interactions
ENSG00000118640	chromatin interactions
ENSG00000168883	chromatin interactions
ENSG00000152292	chromatin interactions
ENSG00000168887	chromatin interactions
ENSG00000115523	chromatin interactions
ENSG00000168890	chromatin interactions
ENSG00000168906	chromatin interactions

Extended variants
information (count: 3835 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:3835 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7599812	chr2:85853653-85853654	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546250540	chr2:85853734-85853735	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs537582789	chr2:85853812-85853813	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555908207	chr2:85853833-85853834	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs11894948	chr2:85853863-85853864	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs141604594	chr2:85853917-85853918	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200909187	chr2:85853934-85853935	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs555105736	chr2:85853965-85853966	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs182897567	chr2:85853972-85853973	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs150522325	chr2:85853985-85853986	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs557513114	chr2:85853986-85853987	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575720094	chr2:85853998-85853999	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs188447601	chr2:85854008-85854009	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs12463933	chr2:85854015-85854016	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs529418700	chr2:85854106-85854107	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs557973893	chr2:85854139-85854140	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs376235048	chr2:85854140-85854141	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs116566985	chr2:85854290-85854291	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs192051839	chr2:85854381-85854382	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369481130	chr2:85854434-85854435	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs570026115	chr2:85854453-85854454	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182918303	chr2:85854464-85854465	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549472056	chr2:85854475-85854476	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs13406807	chr2:85854476-85854477	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs139407032	chr2:85854565-85854566	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs187548764	chr2:85854566-85854567	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs192594795	chr2:85854571-85854572	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs556081488	chr2:85854574-85854575	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs202195094	chr2:85854580-85854581	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs541469829	chr2:85854588-85854589	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs112395314	chr2:85854589-85854590	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558039066	chr2:85854599-85854600	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs575584525	chr2:85854675-85854676	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs564048712	chr2:85854766-85854767	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs543035902	chr2:85854767-85854768	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373635645	chr2:85854781-85854782	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs184321674	chr2:85854792-85854793	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs573435615	chr2:85854817-85854818	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs375710133	chr2:85854846-85854847	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs559737182	chr2:85854854-85854855	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs72923051	chr2:85854855-85854856	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs189121332	chr2:85854859-85854860	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs192774582	chr2:85854865-85854866	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs530894330	chr2:85854890-85854891	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs545572012	chr2:85854945-85854946	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs549435275	chr2:85854961-85854962	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs561348502	chr2:85854973-85854974	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs528627335	chr2:85855035-85855036	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs149650252	chr2:85855038-85855039	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs565694235	chr2:85855042-85855043	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16272173	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	19115005	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2280 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85843800-85876000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:85844800-85858400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:85844800-85862600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:85844800-85881600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:85845000-85876000	Weak transcription	Right Atrium	heart
6	chr2:85845000-85879800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:85845000-85880000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:85845000-85880800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:85845000-85881400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:85845000-85881800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:85845000-85883600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:85845200-85855600	Strong transcription	Primary B cells from peripheral blood	blood
13	chr2:85845400-85853800	Strong transcription	K562	blood
14	chr2:85845400-85864600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:85845400-85879800	Strong transcription	Lung	lung
16	chr2:85845400-85881000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:85845400-85881400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:85845400-85886400	Strong transcription	Fetal Muscle Leg	muscle
19	chr2:85845600-85881800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:85845600-85882200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr2:85845800-85860800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:85845800-85865000	Strong transcription	NH-A	brain
23	chr2:85845800-85881400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:85845800-85881600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:85845800-85881800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:85846000-85856600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:85846000-85856600	Strong transcription	Spleen	Spleen
28	chr2:85846000-85875600	Strong transcription	Primary hematopoietic stem cells	blood
29	chr2:85846000-85880800	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:85846000-85881400	Strong transcription	Fetal Stomach	stomach
31	chr2:85846000-85881400	Strong transcription	Fetal Thymus	thymus
32	chr2:85846000-85887000	Strong transcription	Liver	Liver
33	chr2:85846000-85887400	Strong transcription	Fetal Intestine Small	intestine
34	chr2:85846200-85855600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:85846200-85864200	Strong transcription	Brain Germinal Matrix	brain
36	chr2:85846200-85871600	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:85846200-85874600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr2:85846200-85874600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr2:85846200-85875000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:85846200-85875200	Strong transcription	Placenta	Placenta
41	chr2:85846200-85879400	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:85846200-85879400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:85846200-85880000	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:85846200-85880000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:85846200-85880000	Strong transcription	Stomach Smooth Muscle	stomach
46	chr2:85846200-85880600	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr2:85846200-85881200	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:85846200-85881400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:85846200-85881400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:85846200-85882000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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