Variant report

Variant	nsv874900
Chromosome Location	chr2:113948378-113967990
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1388)
CpG islands
(count:857)
Chromatin interactive
region (count:75)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1388 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:113961543-113961810	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:113956688-113957051	HepG2	liver:	n/a	n/a
3	ATF2	chr2:113961445-113961764	GM12878	blood:	n/a	n/a
4	ATF2	chr2:113961415-113961977	GM12878	blood:	n/a	n/a
5	ATF3	chr2:113956648-113957063	A549	lung:	n/a	chr2:113956901-113956910
6	BACH1	chr2:113956294-113957148	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr2:113961408-113961912	GM12878	blood:	n/a	n/a
8	BCL3	chr2:113956458-113957260	A549	lung:	n/a	chr2:113956827-113956840 chr2:113956897-113956910 chr2:113956824-113956837 chr2:113956956-113956965
9	BCLAF1	chr2:113961407-113961874	GM12878	blood:	n/a	n/a
10	BCLAF1	chr2:113961371-113962463	GM12878	blood:	n/a	chr2:113961936-113961944
11	BHLHE40	chr2:113961479-113961803	K562	blood:	n/a	n/a
12	BHLHE40	chr2:113956753-113957144	GM12878	blood:	n/a	chr2:113956874-113956890
13	BHLHE40	chr2:113961469-113961825	HepG2	liver:	n/a	n/a
14	BHLHE40	chr2:113956655-113957144	HepG2	liver:	n/a	chr2:113956874-113956890
15	BHLHE40	chr2:113956736-113957223	A549	lung:	n/a	chr2:113956874-113956890
16	BHLHE40	chr2:113961563-113961842	GM12878	blood:	n/a	n/a
17	BRCA1	chr2:113961507-113961762	HepG2	liver:	n/a	n/a
18	BRCA1	chr2:113956741-113957143	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr2:113956545-113956895	H1-hESC	embryonic stem cell:	n/a	n/a
20	BRCA1	chr2:113961555-113961864	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr2:113956768-113956891	HepG2	liver:	n/a	n/a
22	CCNT2	chr2:113956884-113956944	K562	blood:	n/a	n/a
23	CCNT2	chr2:113961508-113961837	K562	blood:	n/a	n/a
24	CEBPB	chr2:113951889-113952003	HepG2	liver:	n/a	n/a
25	CEBPB	chr2:113960844-113961083	IMR90	lung:	n/a	n/a
26	CEBPB	chr2:113955652-113955901	HepG2	liver:	n/a	chr2:113955807-113955820
27	CEBPB	chr2:113956728-113957009	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr2:113956748-113957073	Hela-S3	cervix:	n/a	n/a
29	CEBPD	chr2:113956339-113957129	HepG2	liver:	n/a	n/a
30	CHD1	chr2:113961583-113961666	GM12878	blood:	n/a	n/a
31	CHD2	chr2:113956756-113956922	GM12878	blood:	n/a	chr2:113956902-113956912
32	CHD2	chr2:113956603-113956893	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr2:113961555-113961985	GM12878	blood:	n/a	n/a
34	CHD2	chr2:113962288-113962341	GM12878	blood:	n/a	n/a
35	CHD2	chr2:113961587-113961979	HepG2	liver:	n/a	n/a
36	CHD2	chr2:113956323-113957162	Hela-S3	cervix:	n/a	chr2:113956902-113956912
37	CHD2	chr2:113956405-113956952	HepG2	liver:	n/a	chr2:113956902-113956912
38	CREB1	chr2:113956627-113957162	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr2:113961553-113961906	A549	lung:	n/a	n/a
40	CREB1	chr2:113956608-113957096	H1-hESC	embryonic stem cell:	n/a	n/a
41	CREB1	chr2:113956011-113957268	HepG2	liver:	n/a	n/a
42	CREB1	chr2:113956193-113957085	A549	lung:	n/a	n/a
43	CTBP2	chr2:113956222-113957075	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr2:113950120-113950374	GM12878	blood:	n/a	chr2:113950228-113950246 chr2:113950230-113950243
45	CTCF	chr2:113956760-113956910	HUVEC	blood vessel:	n/a	chr2:113956841-113956862 chr2:113956847-113956863 chr2:113956846-113956864 chr2:113956848-113956861
46	CTCF	chr2:113956780-113956930	AG04450	lung:	n/a	chr2:113956841-113956862 chr2:113956847-113956863 chr2:113956846-113956864 chr2:113956848-113956861
47	CTCF	chr2:113957953-113958023	A549	lung:	n/a	n/a
48	CTCF	chr2:113957820-113957970	AG09319	gingival:	n/a	n/a
49	CTCF	chr2:113956180-113956330	GM12874	blood:	n/a	n/a
50	CTCF	chr2:113950180-113950330	HFF	foreskin:	n/a	chr2:113950228-113950246 chr2:113950230-113950243

(count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:113957041-113957091	MCF10A-Er-Src	breast:	n/a
2	chr2:113956344-113956394	T-47D	breast:	n/a
3	chr2:113954586-113954636	HRCEpiC	kidney:	n/a
4	chr2:113957041-113957091	MCF10A-Er-Src	breast:	n/a
5	chr2:113956344-113956394	T-47D	breast:	n/a
6	chr2:113954586-113954636	HRCEpiC	kidney:	n/a
7	chr2:113956531-113956581	PANC-1	pancreas:	n/a
8	chr2:113960266-113960316	HCM	heart:	n/a
9	chr2:113957972-113958022	AG10803	skin:	n/a
10	chr2:113952510-113952560	AG04449	skin:	fetal
11	chr2:113952510-113952560	CMK	blood:	n/a
12	chr2:113953543-113953593	HCM	heart:	n/a
13	chr2:113967479-113967529	GM12878	blood:	n/a
14	chr2:113952510-113952560	GM12891	blood:	n/a
15	chr2:113956634-113956684	A549	lung:	n/a
16	chr2:113954732-113954782	SAEC	small airway:	n/a
17	chr2:113954589-113954639	HRE	kidney:	n/a
18	chr2:113956344-113956394	GM06990	blood:	n/a
19	chr2:113954589-113954639	AG10803	skin:	n/a
20	chr2:113957972-113958022	HEK293	kidney:	embryo
21	chr2:113967479-113967529	LNCaP	prostate:	n/a
22	chr2:113956634-113956684	SK-N-SH_RA	brain:	n/a
23	chr2:113956634-113956684	AoSMC	blood vessel:	n/a
24	chr2:113954589-113954639	HMEC	breast:	n/a
25	chr2:113952510-113952560	U87	brain:	n/a
26	chr2:113954732-113954782	MCF-7	breast:	n/a
27	chr2:113952510-113952560	Hela-S3	cervix:	n/a
28	chr2:113953543-113953593	MCF10A-Er-Src	breast:	n/a
29	chr2:113953543-113953593	BJ	skin:	n/a
30	chr2:113957041-113957091	AoSMC	blood vessel:	n/a
31	chr2:113967479-113967529	BE2_C	brain:	n/a
32	chr2:113967479-113967529	PANC-1	pancreas:	n/a
33	chr2:113960266-113960316	PANC-1	pancreas:	n/a
34	chr2:113956255-113956305	Hepatocyte	liver:	n/a
35	chr2:113956255-113956305	HCM	heart:	n/a
36	chr2:113957972-113958022	HL-60	blood:	n/a
37	chr2:113956255-113956305	SK-N-MC	brain:	n/a
38	chr2:113954732-113954782	HUVEC	blood vessel:	n/a
39	chr2:113954586-113954636	PANC-1	pancreas:	n/a
40	chr2:113967479-113967529	GM19239	blood:	n/a
41	chr2:113956531-113956581	HCF	heart:	n/a
42	chr2:113954586-113954636	SK-N-MC	brain:	n/a
43	chr2:113954586-113954636	NT2-D1	testis:	n/a
44	chr2:113956255-113956305	HCF	heart:	n/a
45	chr2:113956255-113956305	SAEC	small airway:	n/a
46	chr2:113967479-113967529	MCF10A-Er-Src	breast:	n/a
47	chr2:113953981-113954031	NHBE	bronchial:	n/a
48	chr2:113953981-113954031	SK-N-MC	brain:	n/a
49	chr2:113952510-113952560	ProgFib	skin:	n/a
50	chr2:113956531-113956581	U87	brain:	n/a

(count:75 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:113950147..113951745-chr2:113959067..113960675,2	K562	blood:
2	chr2:113956609..113958908-chr2:113996941..113999634,4	MCF-7	breast:
3	chr2:113960427..113963298-chr2:114003216..114006590,3	MCF-7	breast:
4	chr2:113894549..113895054-chr2:113961608..113962495,2	MCF-7	breast:
5	chr2:113837298..113838414-chr2:113957612..113958528,4	MCF-7	breast:
6	chr2:113957990..113960310-chr2:113968961..113970700,2	K562	blood:
7	chr2:113914412..113914976-chr2:113956450..113956998,2	MCF-7	breast:
8	chr2:113881134..113884097-chr2:113960459..113963321,2	K562	blood:
9	chr2:113949542..113953586-chr2:113955251..113958622,5	MCF-7	breast:
10	chr2:113961603..113962131-chr2:114147652..114148320,2	K562	blood:
11	chr2:113895343..113896160-chr2:113957461..113958420,2	MCF-7	breast:
12	chr2:113930203..113932925-chr2:113950004..113952772,2	K562	blood:
13	chr2:113894243..113895050-chr2:113956611..113957124,2	MCF-7	breast:
14	chr2:113895331..113896490-chr2:113956383..113957293,5	MCF-7	breast:
15	chr2:113956911..113959239-chr2:113960727..113963043,2	MCF-7	breast:
16	chr2:113913769..113918338-chr2:113954843..113958220,11	MCF-7	breast:
17	chr2:113956422..113958569-chr2:113991553..113994219,2	MCF-7	breast:
18	chr2:113949482..113951925-chr2:113952977..113955662,3	K562	blood:
19	chr2:113941683..113943578-chr2:113962080..113965025,3	K562	blood:
20	chr2:113894412..113895100-chr2:113949933..113951128,3	MCF-7	breast:
21	chr2:113967235..113968789-chr2:113984371..113986823,2	MCF-7	breast:
22	chr2:113961183..113962044-chr2:114147703..114148314,2	MCF-7	breast:
23	chr2:113895446..113896605-chr2:113950024..113950747,3	MCF-7	breast:
24	chr2:113950663..113952350-chr2:113953925..113956890,2	K562	blood:
25	chr2:113955184..113958187-chr2:113960029..113962112,5	MCF-7	breast:
26	chr2:113954800..113956739-chr2:113958061..113960396,3	MCF-7	breast:
27	chr2:113958810..113962275-chr2:113967321..113970700,3	K562	blood:
28	chr2:113896084..113896884-chr2:113957485..113958379,3	MCF-7	breast:
29	chr2:113954862..113956783-chr2:113998620..114001129,2	MCF-7	breast:
30	chr2:113955248..113957880-chr2:113994557..113996875,2	MCF-7	breast:
31	chr2:113949542..113953586-chr2:113955251..113958622,5	MCF-7	breast:
32	chr2:113894223..113895276-chr2:113957564..113958721,4	MCF-7	breast:
33	chr2:113894199..113895178-chr2:113956349..113957482,7	MCF-7	breast:
34	chr2:113956459..113959352-chr2:113984317..113985947,2	K562	blood:
35	chr2:113961854..113963541-chr2:113993212..113994812,2	MCF-7	breast:
36	chr17:37009598..37010450-chr2:113960020..113960913,2	NB4	blood:
37	chr2:113943577..113946396-chr2:113947110..113948817,2	MCF-7	breast:
38	chr2:113950220..113951864-chr2:113997428..113999954,2	K562	blood:
39	chr2:113947298..113949233-chr2:113956219..113958532,2	MCF-7	breast:
40	chr2:113933537..113935192-chr2:113956517..113958039,2	MCF-7	breast:
41	chr2:113958498..113959276-chr2:114147736..114148311,2	K562	blood:
42	chr2:113895684..113896622-chr2:113956462..113957445,3	MCF-7	breast:
43	chr2:113927356..113929479-chr2:113956960..113958587,2	MCF-7	breast:
44	chr2:113941477..113944460-chr2:113951684..113956081,4	K562	blood:
45	chr2:113912322..113918193-chr2:113953978..113958305,10	MCF-7	breast:
46	chr2:113956911..113959239-chr2:113960727..113963043,2	MCF-7	breast:
47	chr2:113836433..113838367-chr2:113961484..113963853,2	MCF-7	breast:
48	chr2:113931492..113932996-chr2:113955583..113957836,2	MCF-7	breast:
49	chr2:113958931..113961853-chr2:113995609..113998129,2	K562	blood:
50	chr2:113961133..113962048-chr2:113984596..113985475,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSD4-2	chr2:113963503-113966973	NONHSAT073752
2	lnc-IL1RN-5	chr2:113960078-113960494	NONHSAT073751

No data

Variant related genes	Relation type
PAX8-AS1	TF binding region
PSD4	TF binding region
PAX8-AS1	CpG island
PSD4	CpG island
ENSG00000173209	chromatin interactions
ENSG00000125618	chromatin interactions
ENSG00000125637	chromatin interactions
ENSG00000234174	chromatin interactions
ENSG00000125691	chromatin interactions
ENSG00000189223	chromatin interactions
ENSG00000188177	chromatin interactions
ENSG00000258395	chromatin interactions

Extended variants
information (count: 728 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:728 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6756147	chr2:113948378-113948379	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561114701	chr2:113948387-113948388	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34233822	chr2:113948418-113948419	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs45536633	chr2:113948436-113948437	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543664361	chr2:113948472-113948473	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563818194	chr2:113948496-113948497	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200324461	chr2:113948512-113948513	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116306521	chr2:113948558-113948559	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs13419289	chr2:113948582-113948583	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191808190	chr2:113948583-113948584	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184285272	chr2:113948586-113948587	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370555854	chr2:113948709-113948710	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576376090	chr2:113948731-113948732	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188814366	chr2:113948800-113948801	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543736124	chr2:113948808-113948809	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs45558837	chr2:113948858-113948859	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550835590	chr2:113948862-113948863	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570640448	chr2:113948877-113948878	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181615467	chr2:113948881-113948882	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs45627132	chr2:113948913-113948914	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs10469812	chr2:113948915-113948916	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
22	rs370843404	chr2:113948938-113948939	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534756619	chr2:113948967-113948968	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139755481	chr2:113948981-113948982	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574631603	chr2:113949019-113949020	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569154835	chr2:113949040-113949041	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543591694	chr2:113949041-113949042	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572016117	chr2:113949071-113949072	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7579305	chr2:113949097-113949098	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs200736882	chr2:113949119-113949120	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184529641	chr2:113949138-113949139	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554722682	chr2:113949162-113949163	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568553993	chr2:113949167-113949168	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546491846	chr2:113949168-113949169	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117184033	chr2:113949221-113949222	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs144428591	chr2:113949273-113949274	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs548253680	chr2:113949280-113949281	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs45615241	chr2:113949286-113949287	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs530657754	chr2:113949295-113949296	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs550481630	chr2:113949328-113949329	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs3791339	chr2:113949375-113949376	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs539322314	chr2:113949393-113949394	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs45494895	chr2:113949491-113949492	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs544902237	chr2:113949519-113949520	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs558819986	chr2:113949520-113949521	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs575090158	chr2:113949525-113949526	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs3791340	chr2:113949569-113949570	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
48	rs180827772	chr2:113949586-113949587	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs3791341	chr2:113949590-113949591	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs574568879	chr2:113949627-113949628	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
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
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	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
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:947 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113923000-113951800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:113923000-113956000	Weak transcription	HMEC	breast
3	chr2:113934200-113949000	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr2:113934200-113956200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:113934400-113948600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:113939400-113948400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
7	chr2:113939400-113949000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr2:113939400-113956000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:113939400-113956400	Weak transcription	Small Intestine	intestine
10	chr2:113939600-113953800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:113939600-113955400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:113939600-113956200	Weak transcription	Fetal Lung	lung
13	chr2:113940000-113961000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:113940400-113950000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:113941000-113950000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:113941200-113949800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:113941400-113950000	Weak transcription	Esophagus	oesophagus
18	chr2:113941800-113949000	Genic enhancers	Primary monocytes fromperipheralblood	blood
19	chr2:113941800-113950000	Weak transcription	NHEK	skin
20	chr2:113942000-113948800	Genic enhancers	Primary T cells from cord blood	blood
21	chr2:113942000-113950400	Weak transcription	Fetal Intestine Large	intestine
22	chr2:113942400-113950200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:113942800-113956600	Strong transcription	Fetal Thymus	thymus
24	chr2:113942800-113961000	Strong transcription	Dnd41	blood
25	chr2:113943000-113956200	Weak transcription	Brain Substantia Nigra	brain
26	chr2:113943600-113950000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:113943600-113956200	Weak transcription	Adipose Nuclei	Adipose
28	chr2:113943800-113948600	Weak transcription	Colonic Mucosa	Colon
29	chr2:113943800-113949600	Weak transcription	Gastric	stomach
30	chr2:113943800-113950000	Weak transcription	Lung	lung
31	chr2:113943800-113955200	Weak transcription	Stomach Mucosa	stomach
32	chr2:113943800-113956000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:113944200-113948400	Weak transcription	Liver	Liver
34	chr2:113944400-113950000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:113944400-113950000	Weak transcription	Placenta	Placenta
36	chr2:113944400-113950000	Weak transcription	Pancreas	Pancrea
37	chr2:113944600-113950000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:113945000-113948600	Weak transcription	Fetal Intestine Small	intestine
39	chr2:113945200-113948600	Weak transcription	Spleen	Spleen
40	chr2:113945200-113949800	Weak transcription	Fetal Stomach	stomach
41	chr2:113945400-113948600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:113945600-113948600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:113945600-113949000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
44	chr2:113945600-113950000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr2:113945600-113950200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr2:113945600-113951000	Weak transcription	HepG2	liver
47	chr2:113945600-113952000	Weak transcription	K562	blood
48	chr2:113946000-113948600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:113946000-113948800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr2:113946400-113950000	Strong transcription	Primary T cells fromperipheralblood	blood

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