Variant report

Variant	nsv535723
Chromosome Location	chr2:54331179-54452329
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1876)
CpG islands
(count:550)
Chromatin interactive
region (count:62)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1876 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:54439728-54439894	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:54342214-54342674	K562	blood:	n/a	n/a
3	ARID3A	chr2:54350062-54350502	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:54348943-54349803	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:54342112-54343329	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:54370914-54371223	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:54433811-54434099	K562	blood:	n/a	n/a
8	ARID3A	chr2:54434706-54435407	HepG2	liver:	n/a	n/a
9	ARID3A	chr2:54433752-54434035	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:54334105-54334747	HepG2	liver:	n/a	n/a
11	ATF1	chr2:54350171-54350540	K562	blood:	n/a	n/a
12	ATF2	chr2:54342259-54343435	GM12878	blood:	n/a	n/a
13	ATF2	chr2:54342739-54343162	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr2:54342597-54343101	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr2:54342653-54343101	GM12878	blood:	n/a	n/a
16	ATF3	chr2:54342441-54343319	A549	lung:	n/a	chr2:54342686-54342706
17	ATF3	chr2:54342494-54343241	A549	lung:	n/a	chr2:54342686-54342706
18	ATF3	chr2:54342491-54342880	K562	blood:	n/a	chr2:54342686-54342706
19	BACH1	chr2:54344004-54344187	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr2:54342909-54343140	K562	blood:	n/a	n/a
21	BACH1	chr2:54342641-54343194	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr2:54342290-54342469	K562	blood:	n/a	n/a
23	BCL3	chr2:54342350-54343391	A549	lung:	n/a	chr2:54343027-54343036 chr2:54343022-54343035
24	BCL3	chr2:54342363-54343384	A549	lung:	n/a	chr2:54343027-54343036 chr2:54343022-54343035
25	BCLAF1	chr2:54342532-54343140	K562	blood:	n/a	chr2:54343027-54343036 chr2:54343022-54343035
26	BCLAF1	chr2:54342302-54343327	GM12878	blood:	n/a	chr2:54343027-54343036 chr2:54343022-54343035
27	BCLAF1	chr2:54342382-54343284	GM12878	blood:	n/a	chr2:54343027-54343036 chr2:54343022-54343035
28	BHLHE40	chr2:54342457-54343261	HepG2	liver:	n/a	chr2:54343156-54343172 chr2:54343022-54343038
29	BHLHE40	chr2:54350178-54350387	HepG2	liver:	n/a	n/a
30	BHLHE40	chr2:54342489-54343344	GM12878	blood:	n/a	chr2:54343156-54343172 chr2:54343022-54343038
31	BHLHE40	chr2:54434828-54435348	HepG2	liver:	n/a	n/a
32	BHLHE40	chr2:54342339-54343334	K562	blood:	n/a	chr2:54343156-54343172 chr2:54343022-54343038
33	BHLHE40	chr2:54351871-54352015	K562	blood:	n/a	n/a
34	BHLHE40	chr2:54403754-54404040	HepG2	liver:	n/a	n/a
35	BRCA1	chr2:54435756-54436226	Hela-S3	cervix:	n/a	n/a
36	BRCA1	chr2:54342460-54343144	HepG2	liver:	n/a	n/a
37	BRCA1	chr2:54342560-54343076	GM12878	blood:	n/a	n/a
38	BRCA1	chr2:54342273-54343384	Hela-S3	cervix:	n/a	n/a
39	BRCA1	chr2:54342604-54342752	H1-hESC	embryonic stem cell:	n/a	n/a
40	CBX3	chr2:54342721-54343433	K562	blood:	n/a	n/a
41	CBX3	chr2:54348068-54348581	K562	blood:	n/a	n/a
42	CBX3	chr2:54343541-54344165	HCT-116	colon:	n/a	n/a
43	CBX3	chr2:54380286-54380610	K562	blood:	n/a	n/a
44	CBX3	chr2:54343593-54344066	K562	blood:	n/a	n/a
45	CBX3	chr2:54342478-54344313	K562	blood:	n/a	n/a
46	CCNT2	chr2:54415377-54415538	K562	blood:	n/a	n/a
47	CCNT2	chr2:54360834-54361022	K562	blood:	n/a	n/a
48	CCNT2	chr2:54342484-54343202	K562	blood:	n/a	n/a
49	CEBPB	chr2:54403893-54404200	HepG2	liver:	n/a	n/a
50	CEBPB	chr2:54433864-54433944	A549	lung:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:54342806-54342856	ProgFib	skin:	n/a
2	chr2:54342806-54342856	ProgFib	skin:	n/a
3	chr2:54342806-54342856	HAEpiC	amniotic membrane:	n/a
4	chr2:54340934-54340984	U87	brain:	n/a
5	chr2:54342806-54342856	HepG2	liver:	n/a
6	chr2:54340298-54340348	AG09309	skin:	n/a
7	chr2:54342651-54342701	MCF10A-Er-Src	breast:	n/a
8	chr2:54350432-54350482	NHBE	bronchial:	n/a
9	chr2:54342806-54342856	GM19239	blood:	n/a
10	chr2:54345792-54345842	RPTEC	kidney:	n/a
11	chr2:54342961-54343011	HPAEpiC	pulmonary alveolar:	n/a
12	chr2:54342806-54342856	GM12878	blood:	n/a
13	chr2:54343179-54343229	CMK	blood:	n/a
14	chr2:54345792-54345842	MCF10A-Er-Src	breast:	n/a
15	chr2:54350432-54350482	NH-A	brain:	n/a
16	chr2:54342584-54342634	PrEC	prostate:	n/a
17	chr2:54345792-54345842	GM12891	blood:	n/a
18	chr2:54342961-54343011	HRE	kidney:	n/a
19	chr2:54340934-54340984	HRCEpiC	kidney:	n/a
20	chr2:54343179-54343229	HEEpiC	esophagus:	n/a
21	chr2:54340934-54340984	HCM	heart:	n/a
22	chr2:54342961-54343011	SAEC	small airway:	n/a
23	chr2:54350432-54350482	GM06990	blood:	n/a
24	chr2:54342961-54343011	RPTEC	kidney:	n/a
25	chr2:54342651-54342701	PrEC	prostate:	n/a
26	chr2:54342584-54342634	H1-hESC	embryonic stem cell:	embryo
27	chr2:54343179-54343229	GM19239	blood:	n/a
28	chr2:54340298-54340348	IMR90	lung:	fetal
29	chr2:54342651-54342701	GM12891	blood:	n/a
30	chr2:54340298-54340348	U87	brain:	n/a
31	chr2:54342961-54343011	GM12892	blood:	n/a
32	chr2:54345792-54345842	BJ	skin:	n/a
33	chr2:54342961-54343011	SK-N-SH_RA	brain:	n/a
34	chr2:54343179-54343229	BJ	skin:	n/a
35	chr2:54342806-54342856	Caco-2	colon:	n/a
36	chr2:54342651-54342701	AG10803	skin:	n/a
37	chr2:54342961-54343011	U87	brain:	n/a
38	chr2:54342651-54342701	NHBE	bronchial:	n/a
39	chr2:54340298-54340348	Caco-2	colon:	n/a
40	chr2:54342651-54342701	GM19239	blood:	n/a
41	chr2:54342584-54342634	SKMC	muscle:	n/a
42	chr2:54342584-54342634	T-47D	breast:	n/a
43	chr2:54345792-54345842	NHDF-neo	bronchial:	n/a
44	chr2:54342584-54342634	PFSK-1	brain:	n/a
45	chr2:54342961-54343011	NHBE	bronchial:	n/a
46	chr2:54342961-54343011	AG04449	skin:	fetal
47	chr2:54345792-54345842	ECC-1	luminal epithelium:	n/a
48	chr2:54342961-54343011	ProgFib	skin:	n/a
49	chr2:54345792-54345842	ovcar-3	ovarian:	n/a
50	chr2:54342961-54343011	HepG2	liver:	n/a

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:54335252..54336789-chr2:54355206..54357354,2	MCF-7	breast:
2	chr2:54340543..54343083-chr2:54350579..54352338,2	K562	blood:
3	chr2:54341341..54343085-chr2:54376949..54378991,2	MCF-7	breast:
4	chr15:76603595..76604138-chr2:54342354..54343006,2	HCT-116	colon:
5	chr2:54341307..54344135-chr2:54557168..54559182,2	K562	blood:
6	chr2:54341216..54345253-chr2:54347980..54351307,5	MCF-7	breast:
7	chr2:54333529..54340855-chr2:54341009..54344742,14	K562	blood:
8	chr2:54433377..54433952-chr2:54730236..54730920,2	MCF-7	breast:
9	chr2:54431810..54434797-chr2:54434888..54436507,2	K562	blood:
10	chr2:54341795..54343300-chr2:54353986..54355682,2	K562	blood:
11	chr18:12947857..12948364-chr2:54342415..54343083,2	Hela-S3	cervix:
12	chr2:54342236..54343923-chr2:54879380..54882162,2	MCF-7	breast:
13	chr2:54341216..54345253-chr2:54347980..54351307,5	MCF-7	breast:
14	chr2:54342079..54343052-chr5:109024930..109025777,2	Hela-S3	cervix:
15	chr2:54432631..54436865-chr2:54437237..54440391,3	K562	blood:
16	chr2:54419449..54421848-chr2:54424937..54426802,2	K562	blood:
17	chr2:54341946..54344648-chr2:54408186..54409910,2	K562	blood:
18	chr2:54348914..54351934-chr2:54354542..54358580,3	K562	blood:
19	chr2:54330146..54332373-chr2:54340352..54345020,6	MCF-7	breast:
20	chr17:79849578..79850209-chr2:54342411..54343037,2	Hela-S3	cervix:
21	chr2:54419449..54421848-chr2:54424937..54426802,2	K562	blood:
22	chr2:54341659..54344698-chr2:54352246..54354996,3	MCF-7	breast:
23	chr2:54341176..54343229-chr2:54346629..54349067,2	K562	blood:
24	chr2:54343136..54344762-chr2:54350422..54352755,2	K562	blood:
25	chr2:54341443..54343043-chr2:54557751..54559883,2	MCF-7	breast:
26	chr2:54198564..54201435-chr2:54359737..54361960,2	K562	blood:
27	chr2:54433434..54434357-chr2:54725307..54725819,2	MCF-7	breast:
28	chr2:54316468..54319152-chr2:54339625..54341327,2	K562	blood:
29	chr2:54352052..54355360-chr2:54358848..54360965,3	K562	blood:
30	chr2:54341176..54344555-chr2:54346430..54350020,7	K562	blood:
31	chr2:54442747..54444548-chr2:54447776..54450231,2	K562	blood:
32	chr2:54403773..54404429-chr2:54730122..54730843,3	MCF-7	breast:
33	chr16:20912054..20912881-chr2:54342309..54343237,2	Hela-S3	cervix:
34	chr2:54342420..54344092-chr20:46285600..46287785,2	MCF-7	breast:
35	chr2:54343141..54345901-chr2:54421855..54423562,2	K562	blood:
36	chr2:54431810..54434797-chr2:54434888..54436507,2	K562	blood:
37	chr2:54334014..54340621-chr2:54341231..54344595,11	MCF-7	breast:
38	chr2:54353860..54357435-chr2:54358249..54361624,3	K562	blood:
39	chr19:48281526..48282040-chr2:54342571..54343371,2	NB4	blood:
40	chr2:54334195..54335002-chr2:54730347..54730951,3	MCF-7	breast:
41	chr2:54343141..54345901-chr2:54421855..54423562,2	K562	blood:
42	chr2:54356754..54359012-chr2:54361196..54364127,2	K562	blood:
43	chr2:54340617..54344494-chr2:54480899..54484108,3	K562	blood:
44	chr2:54352052..54355360-chr2:54358848..54360965,3	K562	blood:
45	chr2:54342420..54344345-chr2:54367915..54370149,2	MCF-7	breast:
46	chr2:54430392..54431993-chr2:54432039..54434857,2	MCF-7	breast:
47	chr2:54341520..54343821-chr2:54682367..54684141,3	MCF-7	breast:
48	chr2:54294456..54296366-chr2:54347167..54348766,2	K562	blood:
49	chr2:54341229..54346589-chr2:54385136..54390434,5	MCF-7	breast:
50	chr2:54195752..54197966-chr2:54347709..54349839,3	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
ENSG00000178980	chromatin interactions
ENSG00000140374	chromatin interactions
ENSG00000115306	chromatin interactions
ENSG00000141552	chromatin interactions
ENSG00000196562	chromatin interactions
ENSG00000068878	chromatin interactions
ENSG00000170634	chromatin interactions
ENSG00000115310	chromatin interactions
ENSG00000178021	chromatin interactions
ENSG00000102897	chromatin interactions
ENSG00000177994	chromatin interactions
ENSG00000085415	chromatin interactions
ENSG00000112893	chromatin interactions

Extended variants
information (count: 5277 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:5277 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192528737	chr2:54331221-54331222	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs143486992	chr2:54331226-54331227	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs373645765	chr2:54331253-54331254	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs148600271	chr2:54331285-54331286	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs548233489	chr2:54331407-54331408	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs183558010	chr2:54331469-54331470	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs116416295	chr2:54331574-54331575	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142067401	chr2:54331615-54331616	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs550084982	chr2:54331619-54331620	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs569843868	chr2:54331624-54331625	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs573450183	chr2:54331653-54331654	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs151220151	chr2:54331655-54331656	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs565638860	chr2:54331656-54331657	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs139225842	chr2:54331690-54331691	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs187866952	chr2:54331739-54331740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs192304000	chr2:54331789-54331790	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs386646235	chr2:54331815-54331816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs374418952	chr2:54331820-54331821	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs541139553	chr2:54331864-54331865	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs557674786	chr2:54331943-54331944	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs577463183	chr2:54331949-54331950	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546428514	chr2:54331969-54331970	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs144084728	chr2:54331973-54331974	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs572865027	chr2:54331974-54331975	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs146495256	chr2:54331983-54331984	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs185204269	chr2:54332062-54332063	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs529881071	chr2:54332101-54332102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs543251583	chr2:54332107-54332108	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563451741	chr2:54332110-54332111	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs141023360	chr2:54332127-54332128	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs552414072	chr2:54332134-54332135	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs572754939	chr2:54332190-54332191	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs565700163	chr2:54332197-54332198	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs528070382	chr2:54332198-54332199	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs544997468	chr2:54332201-54332202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs548338227	chr2:54332233-54332234	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs145038194	chr2:54332316-54332317	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs372407727	chr2:54332327-54332328	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs537694661	chr2:54332333-54332334	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs34100946	chr2:54332384-54332385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10173161	chr2:54332458-54332459	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs570981263	chr2:54332539-54332540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189677406	chr2:54332552-54332553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553233361	chr2:54332567-54332568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192828805	chr2:54332582-54332583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539316424	chr2:54332609-54332610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs56070895	chr2:54332610-54332611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555489578	chr2:54332628-54332629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145762954	chr2:54332646-54332647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184353622	chr2:54332677-54332678	Weak transcription Enhancers	n/a	n/a	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:1432 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54291200-54342000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:54324000-54333400	Enhancers	Primary B cells from cord blood	blood
3	chr2:54324000-54334400	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:54325800-54334400	Weak transcription	Brain Angular Gyrus	brain
5	chr2:54326000-54334000	Weak transcription	Brain Substantia Nigra	brain
6	chr2:54328400-54331200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:54329000-54332400	Enhancers	Hela-S3	cervix
8	chr2:54329400-54331600	Enhancers	NHDF-Ad	bronchial
9	chr2:54329800-54331400	Enhancers	Osteobl	bone
10	chr2:54329800-54332000	Enhancers	HMEC	breast
11	chr2:54330000-54331400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:54330000-54331400	Enhancers	NHLF	lung
13	chr2:54330000-54331600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:54330000-54331800	Enhancers	NHEK	skin
15	chr2:54330000-54332400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:54330200-54332400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:54330400-54331400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:54330400-54331600	Enhancers	HUVEC	blood vessel
19	chr2:54330600-54331400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:54330600-54331400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:54330600-54331400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:54330600-54331400	Enhancers	Adipose Nuclei	Adipose
23	chr2:54330600-54331400	Enhancers	NH-A	brain
24	chr2:54330800-54331200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:54330800-54331400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr2:54330800-54331400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:54330800-54331400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:54330800-54331400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:54330800-54331400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:54330800-54331400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:54330800-54331400	Enhancers	Brain Hippocampus Middle	brain
32	chr2:54330800-54331400	Enhancers	Duodenum Mucosa	Duodenum
33	chr2:54330800-54331400	Enhancers	GM12878-XiMat	blood
34	chr2:54330800-54331600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:54330800-54331800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr2:54330800-54331800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:54330800-54332000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:54330800-54332400	Enhancers	Liver	Liver
39	chr2:54331000-54331200	Enhancers	Pancreas	Pancrea
40	chr2:54331000-54331200	Enhancers	Psoas Muscle	Psoas
41	chr2:54331000-54331400	Enhancers	H1 Cell Line	embryonic stem cell
42	chr2:54331000-54331400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:54331000-54331400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:54331000-54331400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:54331000-54331400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr2:54331000-54331400	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr2:54331000-54331400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr2:54331000-54331400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:54331000-54331400	Enhancers	Aorta	Aorta
50	chr2:54331000-54331400	Enhancers	Brain Anterior Caudate	brain

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