Variant report

Variant	nsv1003889
Chromosome Location	chr2:54347750-54424601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:468)
CpG islands
(count:61)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:468 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:54348943-54349803	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:54370914-54371223	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:54350062-54350502	HepG2	liver:	n/a	n/a
4	ATF1	chr2:54350171-54350540	K562	blood:	n/a	n/a
5	BHLHE40	chr2:54350178-54350387	HepG2	liver:	n/a	n/a
6	BHLHE40	chr2:54351871-54352015	K562	blood:	n/a	n/a
7	BHLHE40	chr2:54403754-54404040	HepG2	liver:	n/a	n/a
8	CBX3	chr2:54348068-54348581	K562	blood:	n/a	n/a
9	CBX3	chr2:54380286-54380610	K562	blood:	n/a	n/a
10	CCNT2	chr2:54360834-54361022	K562	blood:	n/a	n/a
11	CCNT2	chr2:54415377-54415538	K562	blood:	n/a	n/a
12	CEBPB	chr2:54376778-54377122	IMR90	lung:	n/a	n/a
13	CEBPB	chr2:54409363-54409710	HepG2	liver:	n/a	chr2:54409533-54409544
14	CEBPB	chr2:54403893-54404200	HepG2	liver:	n/a	n/a
15	CEBPB	chr2:54409404-54409694	A549	lung:	n/a	chr2:54409533-54409544
16	CEBPB	chr2:54409383-54409679	IMR90	lung:	n/a	chr2:54409533-54409544
17	CEBPB	chr2:54375773-54375864	A549	lung:	n/a	chr2:54375818-54375829
18	CEBPB	chr2:54353992-54354196	K562	blood:	n/a	n/a
19	CEBPB	chr2:54361286-54361486	K562	blood:	n/a	n/a
20	CEBPB	chr2:54370934-54371212	HepG2	liver:	n/a	n/a
21	CEBPB	chr2:54409404-54409706	K562	blood:	n/a	chr2:54409533-54409544
22	CEBPB	chr2:54414474-54414822	HepG2	liver:	n/a	n/a
23	CEBPB	chr2:54414462-54414786	HepG2	liver:	n/a	n/a
24	CEBPB	chr2:54399582-54399619	A549	lung:	n/a	n/a
25	CEBPB	chr2:54409404-54409606	HepG2	liver:	n/a	chr2:54409533-54409544
26	CEBPB	chr2:54414536-54414706	HepG2	liver:	n/a	n/a
27	CEBPB	chr2:54409486-54409686	H1-hESC	embryonic stem cell:	n/a	chr2:54409533-54409544
28	CEBPB	chr2:54366681-54366881	HepG2	liver:	n/a	chr2:54366707-54366718
29	CEBPB	chr2:54409366-54409644	HepG2	liver:	n/a	chr2:54409533-54409544
30	CEBPB	chr2:54376796-54377077	HepG2	liver:	n/a	n/a
31	CEBPB	chr2:54370917-54371309	HepG2	liver:	n/a	n/a
32	CEBPB	chr2:54414408-54414822	HepG2	liver:	n/a	n/a
33	CEBPB	chr2:54376798-54377061	A549	lung:	n/a	n/a
34	CEBPB	chr2:54409455-54409684	Hela-S3	cervix:	n/a	chr2:54409533-54409544
35	CEBPB	chr2:54409410-54409681	MCF-7	breast:	n/a	chr2:54409533-54409544
36	CEBPB	chr2:54376820-54377110	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr2:54403840-54403990	HMEC	breast:	n/a	n/a
38	CTCF	chr2:54403858-54403918	GM10266	blood:	n/a	n/a
39	CTCF	chr2:54388900-54389050	HCFaa	heart:	n/a	chr2:54388999-54389020
40	CTCF	chr2:54403816-54403990	A549	lung:	n/a	n/a
41	CTCF	chr2:54398035-54398077	A549	lung:	n/a	n/a
42	CTCF	chr2:54403694-54404099	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr2:54403751-54404051	HepG2	liver:	n/a	n/a
44	CTCF	chr2:54389000-54389150	HMEC	breast:	n/a	n/a
45	CTCF	chr2:54403349-54404201	SK-N-SH	brain:	n/a	n/a
46	CTCF	chr2:54403723-54404032	MCF-7	breast:	n/a	n/a
47	CTCF	chr2:54403632-54404166	MCF-7	breast:	n/a	n/a
48	CTCF	chr2:54403760-54403910	GM12864	blood:	n/a	n/a
49	CTCF	chr2:54403920-54404070	MCF-7	breast:	n/a	n/a
50	CTCF	chr2:54388920-54389070	HMF	breast:	n/a	chr2:54388999-54389020

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:54350432-54350482	ProgFib	skin:	n/a
2	chr2:54350432-54350482	ECC-1	luminal epithelium:	n/a
3	chr2:54350432-54350482	T-47D	breast:	n/a
4	chr2:54350432-54350482	AG04450	lung:	fetal
5	chr2:54350432-54350482	BE2_C	brain:	n/a
6	chr2:54350432-54350482	GM12891	blood:	n/a
7	chr2:54350432-54350482	AoSMC	blood vessel:	n/a
8	chr2:54350432-54350482	NT2-D1	testis:	n/a
9	chr2:54350432-54350482	SKMC	muscle:	n/a
10	chr2:54350432-54350482	PANC-1	pancreas:	n/a
11	chr2:54350432-54350482	HPAEpiC	pulmonary alveolar:	n/a
12	chr2:54350432-54350482	AG10803	skin:	n/a
13	chr2:54350432-54350482	HRCEpiC	kidney:	n/a
14	chr2:54350432-54350482	NB4	blood:	n/a
15	chr2:54350432-54350482	NHBE	bronchial:	n/a
16	chr2:54350432-54350482	HEEpiC	esophagus:	n/a
17	chr2:54350432-54350482	Hela-S3	cervix:	n/a
18	chr2:54350432-54350482	ovcar-3	ovarian:	n/a
19	chr2:54350432-54350482	K562	blood:	n/a
20	chr2:54350432-54350482	NHDF-neo	bronchial:	n/a
21	chr2:54350432-54350482	HRPEpiC	eye:	n/a
22	chr2:54350432-54350482	AG09319	gingival:	n/a
23	chr2:54350432-54350482	HCPEpiC	choroid plexus:	n/a
24	chr2:54350432-54350482	HepG2	liver:	n/a
25	chr2:54350432-54350482	CMK	blood:	n/a
26	chr2:54350432-54350482	HEK293	kidney:	embryo
27	chr2:54350432-54350482	MCF-7	breast:	n/a
28	chr2:54350432-54350482	HCF	heart:	n/a
29	chr2:54350432-54350482	GM12892	blood:	n/a
30	chr2:54350432-54350482	SK-N-SH_RA	brain:	n/a
31	chr2:54350432-54350482	Hepatocyte	liver:	n/a
32	chr2:54350432-54350482	AG09309	skin:	n/a
33	chr2:54350432-54350482	AG04449	skin:	fetal
34	chr2:54350432-54350482	Caco-2	colon:	n/a
35	chr2:54350432-54350482	HMEC	breast:	n/a
36	chr2:54350432-54350482	U87	brain:	n/a
37	chr2:54350432-54350482	BJ	skin:	n/a
38	chr2:54350432-54350482	SAEC	small airway:	n/a
39	chr2:54350432-54350482	PrEC	prostate:	n/a
40	chr2:54350432-54350482	NH-A	brain:	n/a
41	chr2:54350432-54350482	A549	lung:	n/a
42	chr2:54350432-54350482	LNCaP	prostate:	n/a
43	chr2:54350432-54350482	HL-60	blood:	n/a
44	chr2:54350432-54350482	HCM	heart:	n/a
45	chr2:54350432-54350482	MCF10A-Er-Src	breast:	n/a
46	chr2:54350432-54350482	HRE	kidney:	n/a
47	chr2:54350432-54350482	IMR90	lung:	fetal
48	chr2:54350432-54350482	GM12878	blood:	n/a
49	chr2:54350432-54350482	HIPEpiC	eye:	n/a
50	chr2:54350432-54350482	SK-N-MC	brain:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54343136..54344762-chr2:54350422..54352755,2	K562	blood:
2	chr2:54341229..54346589-chr2:54385136..54390434,5	MCF-7	breast:
3	chr2:54294456..54296366-chr2:54347167..54348766,2	K562	blood:
4	chr2:54353860..54357435-chr2:54358249..54361624,3	K562	blood:
5	chr2:54341176..54343229-chr2:54346629..54349067,2	K562	blood:
6	chr2:54341216..54345253-chr2:54347980..54351307,5	MCF-7	breast:
7	chr2:54342420..54344345-chr2:54367915..54370149,2	MCF-7	breast:
8	chr2:54341795..54343300-chr2:54353986..54355682,2	K562	blood:
9	chr2:54353860..54357435-chr2:54358249..54361624,3	K562	blood:
10	chr2:54335252..54336789-chr2:54355206..54357354,2	MCF-7	breast:
11	chr2:54348914..54351934-chr2:54354542..54358580,3	K562	blood:
12	chr2:54356754..54359012-chr2:54361196..54364127,2	K562	blood:
13	chr2:54341341..54343085-chr2:54376949..54378991,2	MCF-7	breast:
14	chr2:54340543..54343083-chr2:54350579..54352338,2	K562	blood:
15	chr2:54341946..54344648-chr2:54408186..54409910,2	K562	blood:
16	chr2:54352052..54355360-chr2:54358848..54360965,3	K562	blood:
17	chr2:54341659..54344698-chr2:54352246..54354996,3	MCF-7	breast:
18	chr2:54352052..54355360-chr2:54358848..54360965,3	K562	blood:
19	chr2:54356754..54359012-chr2:54361196..54364127,2	K562	blood:
20	chr2:54341176..54344555-chr2:54346430..54350020,7	K562	blood:
21	chr2:54403773..54404429-chr2:54730122..54730843,3	MCF-7	breast:
22	chr2:54195752..54197966-chr2:54347709..54349839,3	K562	blood:
23	chr2:54419449..54421848-chr2:54424937..54426802,2	K562	blood:
24	chr2:54343141..54345901-chr2:54421855..54423562,2	K562	blood:
25	chr2:54198564..54201435-chr2:54359737..54361960,2	K562	blood:

No data

Variant related genes	Relation type
RNU7-172P	TF binding region
ACYP2	TF binding region
RNU7-172P	CpG island
ACYP2	CpG island
ENSG00000068878	chromatin interactions
ENSG00000170634	chromatin interactions

Extended variants
information (count: 3381 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:3381 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1559040	chr2:54347750-54347751	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
2	rs543373572	chr2:54347751-54347752	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs573728059	chr2:54347804-54347805	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs369519994	chr2:54347824-54347825	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs73935068	chr2:54347825-54347826	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs1559039	chr2:54347832-54347833	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs28481646	chr2:54347860-54347861	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs527797970	chr2:54347877-54347878	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs34469593	chr2:54347897-54347898	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs6721970	chr2:54347902-54347903	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs150255742	chr2:54347975-54347976	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs114165753	chr2:54348012-54348013	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs548913630	chr2:54348021-54348022	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs568816957	chr2:54348028-54348029	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs2112125	chr2:54348030-54348031	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs113636999	chr2:54348058-54348059	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs565280537	chr2:54348059-54348060	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs527987719	chr2:54348103-54348104	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs377381379	chr2:54348115-54348116	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs533675636	chr2:54348137-54348138	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs553813269	chr2:54348144-54348145	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs112754955	chr2:54348160-54348161	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs182839514	chr2:54348176-54348177	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs185588224	chr2:54348183-54348184	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs73935069	chr2:54348185-54348186	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs576818210	chr2:54348261-54348262	ZNF genes & repeats Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs146452884	chr2:54348263-54348264	ZNF genes & repeats Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs373591383	chr2:54348310-54348311	ZNF genes & repeats Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs572389902	chr2:54348321-54348322	ZNF genes & repeats Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs537094166	chr2:54348324-54348325	ZNF genes & repeats Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs561432420	chr2:54348372-54348373	ZNF genes & repeats Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs560313809	chr2:54348381-54348382	ZNF genes & repeats Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs542424526	chr2:54348384-54348385	ZNF genes & repeats Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs562311798	chr2:54348475-54348476	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs531525293	chr2:54348488-54348489	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs551628198	chr2:54348489-54348490	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs564760052	chr2:54348492-54348493	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs527267730	chr2:54348504-54348505	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs547219848	chr2:54348523-54348524	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs567371390	chr2:54348530-54348531	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs536311171	chr2:54348540-54348541	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs191076757	chr2:54348541-54348542	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs570234852	chr2:54348574-54348575	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs182920585	chr2:54348575-54348576	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs140933818	chr2:54348583-54348584	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs558616645	chr2:54348586-54348587	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs75867163	chr2:54348595-54348596	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs535022357	chr2:54348598-54348599	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs530215380	chr2:54348605-54348606	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs554629005	chr2:54348607-54348608	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:642 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54343200-54347800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:54343200-54347800	Weak transcription	Spleen	Spleen
3	chr2:54343200-54350600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:54343400-54347800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:54343400-54347800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:54343400-54347800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:54343400-54347800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:54343400-54347800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:54343400-54347800	Weak transcription	Aorta	Aorta
10	chr2:54343400-54347800	Weak transcription	Colonic Mucosa	Colon
11	chr2:54343400-54347800	Weak transcription	Fetal Brain Female	brain
12	chr2:54343400-54347800	Weak transcription	Gastric	stomach
13	chr2:54343400-54347800	Weak transcription	Lung	lung
14	chr2:54343400-54347800	Weak transcription	Right Ventricle	heart
15	chr2:54343400-54347800	Weak transcription	HSMM	muscle
16	chr2:54343400-54348000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:54343400-54348000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:54343400-54348000	Weak transcription	Right Atrium	heart
19	chr2:54343400-54349000	Weak transcription	HSMMtube	muscle
20	chr2:54343400-54349400	Weak transcription	Psoas Muscle	Psoas
21	chr2:54343400-54349600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:54343400-54351000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr2:54343400-54353000	Weak transcription	Fetal Lung	lung
24	chr2:54343400-54388600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:54343600-54347800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:54343600-54347800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:54343600-54347800	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:54343600-54348000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:54343600-54348000	Weak transcription	Adipose Nuclei	Adipose
30	chr2:54343600-54348000	Weak transcription	NHLF	lung
31	chr2:54343600-54349000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:54343600-54349400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:54343600-54350000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:54343600-54350600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:54343800-54347800	Weak transcription	Brain Substantia Nigra	brain
36	chr2:54343800-54349000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:54343800-54349000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:54343800-54349400	Weak transcription	Fetal Heart	heart
39	chr2:54343800-54355800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:54344000-54348000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr2:54344000-54348000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:54344000-54349000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:54344000-54349800	Weak transcription	Primary T cells from cord blood	blood
44	chr2:54344000-54349800	Weak transcription	Hela-S3	cervix
45	chr2:54344200-54347800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:54344200-54347800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:54344200-54348000	Weak transcription	HepG2	liver
48	chr2:54344400-54348800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:54344800-54347800	Weak transcription	Left Ventricle	heart
50	chr2:54345000-54347800	Strong transcription	Liver	Liver

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