Variant report

Variant	esv1851003
Chromosome Location	chr2:54324701-54372931
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1315)
CpG islands
(count:551)
Chromatin interactive
region (count:49)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1315 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:54370914-54371223	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:54350062-54350502	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:54342214-54342674	K562	blood:	n/a	n/a
4	ARID3A	chr2:54330782-54331178	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:54334105-54334747	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:54348943-54349803	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:54330391-54330394	K562	blood:	n/a	n/a
8	ARID3A	chr2:54342112-54343329	HepG2	liver:	n/a	n/a
9	ATF1	chr2:54350171-54350540	K562	blood:	n/a	n/a
10	ATF2	chr2:54342597-54343101	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr2:54342739-54343162	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr2:54342653-54343101	GM12878	blood:	n/a	n/a
13	ATF2	chr2:54342259-54343435	GM12878	blood:	n/a	n/a
14	ATF3	chr2:54342494-54343241	A549	lung:	n/a	chr2:54342686-54342706
15	ATF3	chr2:54342441-54343319	A549	lung:	n/a	chr2:54342686-54342706
16	ATF3	chr2:54342491-54342880	K562	blood:	n/a	chr2:54342686-54342706
17	BACH1	chr2:54344004-54344187	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr2:54342641-54343194	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr2:54342909-54343140	K562	blood:	n/a	n/a
20	BACH1	chr2:54342290-54342469	K562	blood:	n/a	n/a
21	BCL3	chr2:54342363-54343384	A549	lung:	n/a	chr2:54343027-54343036 chr2:54343022-54343035
22	BCL3	chr2:54342350-54343391	A549	lung:	n/a	chr2:54343027-54343036 chr2:54343022-54343035
23	BCLAF1	chr2:54342302-54343327	GM12878	blood:	n/a	chr2:54343027-54343036 chr2:54343022-54343035
24	BCLAF1	chr2:54342532-54343140	K562	blood:	n/a	chr2:54343027-54343036 chr2:54343022-54343035
25	BCLAF1	chr2:54342382-54343284	GM12878	blood:	n/a	chr2:54343027-54343036 chr2:54343022-54343035
26	BHLHE40	chr2:54342489-54343344	GM12878	blood:	n/a	chr2:54343156-54343172 chr2:54343022-54343038
27	BHLHE40	chr2:54350178-54350387	HepG2	liver:	n/a	n/a
28	BHLHE40	chr2:54327114-54327240	GM12878	blood:	n/a	n/a
29	BHLHE40	chr2:54342457-54343261	HepG2	liver:	n/a	chr2:54343156-54343172 chr2:54343022-54343038
30	BHLHE40	chr2:54342339-54343334	K562	blood:	n/a	chr2:54343156-54343172 chr2:54343022-54343038
31	BHLHE40	chr2:54351871-54352015	K562	blood:	n/a	n/a
32	BRCA1	chr2:54342460-54343144	HepG2	liver:	n/a	n/a
33	BRCA1	chr2:54342560-54343076	GM12878	blood:	n/a	n/a
34	BRCA1	chr2:54342604-54342752	H1-hESC	embryonic stem cell:	n/a	n/a
35	BRCA1	chr2:54342273-54343384	Hela-S3	cervix:	n/a	n/a
36	CBX3	chr2:54343541-54344165	HCT-116	colon:	n/a	n/a
37	CBX3	chr2:54348068-54348581	K562	blood:	n/a	n/a
38	CBX3	chr2:54342478-54344313	K562	blood:	n/a	n/a
39	CBX3	chr2:54342721-54343433	K562	blood:	n/a	n/a
40	CBX3	chr2:54343593-54344066	K562	blood:	n/a	n/a
41	CCNT2	chr2:54342484-54343202	K562	blood:	n/a	n/a
42	CCNT2	chr2:54360834-54361022	K562	blood:	n/a	n/a
43	CEBPB	chr2:54329368-54329646	Hela-S3	cervix:	n/a	chr2:54329504-54329515
44	CEBPB	chr2:54328665-54328949	ECC-1	luminal epithelium:	n/a	chr2:54328761-54328772
45	CEBPB	chr2:54342212-54342570	K562	blood:	n/a	chr2:54342338-54342349 chr2:54342374-54342385
46	CEBPB	chr2:54328669-54328819	HepG2	liver:	n/a	chr2:54328761-54328772
47	CEBPB	chr2:54328644-54328881	A549	lung:	n/a	chr2:54328761-54328772
48	CEBPB	chr2:54329417-54329617	HepG2	liver:	n/a	chr2:54329504-54329515
49	CEBPB	chr2:54342212-54343098	Hela-S3	cervix:	n/a	chr2:54342338-54342349 chr2:54342374-54342385
50	CEBPB	chr2:54342278-54342566	IMR90	lung:	n/a	chr2:54342338-54342349 chr2:54342374-54342385

(count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:54342651-54342701	AG09309	skin:	n/a
2	chr2:54340298-54340348	MCF10A-Er-Src	breast:	n/a
3	chr2:54342651-54342701	AG09309	skin:	n/a
4	chr2:54340298-54340348	MCF10A-Er-Src	breast:	n/a
5	chr2:54343179-54343229	SK-N-SH	brain:	n/a
6	chr2:54342806-54342856	NHDF-neo	bronchial:	n/a
7	chr2:54340934-54340984	GM06990	blood:	n/a
8	chr2:54342584-54342634	HPAEpiC	pulmonary alveolar:	n/a
9	chr2:54340298-54340348	NH-A	brain:	n/a
10	chr2:54342651-54342701	ProgFib	skin:	n/a
11	chr2:54342961-54343011	HUVEC	blood vessel:	n/a
12	chr2:54342961-54343011	HRE	kidney:	n/a
13	chr2:54342806-54342856	MCF-7	breast:	n/a
14	chr2:54340934-54340984	K562	blood:	n/a
15	chr2:54342961-54343011	HRPEpiC	eye:	n/a
16	chr2:54342806-54342856	NHBE	bronchial:	n/a
17	chr2:54345792-54345842	K562	blood:	n/a
18	chr2:54342806-54342856	HRE	kidney:	n/a
19	chr2:54342806-54342856	PANC-1	pancreas:	n/a
20	chr2:54350432-54350482	HNPCEpiC	eye:	n/a
21	chr2:54342806-54342856	GM12892	blood:	n/a
22	chr2:54342651-54342701	HNPCEpiC	eye:	n/a
23	chr2:54350432-54350482	SK-N-MC	brain:	n/a
24	chr2:54350432-54350482	AG09309	skin:	n/a
25	chr2:54342806-54342856	HCF	heart:	n/a
26	chr2:54340934-54340984	HIPEpiC	eye:	n/a
27	chr2:54342961-54343011	T-47D	breast:	n/a
28	chr2:54350432-54350482	CMK	blood:	n/a
29	chr2:54345792-54345842	PFSK-1	brain:	n/a
30	chr2:54343179-54343229	Hepatocyte	liver:	n/a
31	chr2:54350432-54350482	ProgFib	skin:	n/a
32	chr2:54340934-54340984	SK-N-SH	brain:	n/a
33	chr2:54342961-54343011	CMK	blood:	n/a
34	chr2:54343179-54343229	PrEC	prostate:	n/a
35	chr2:54345792-54345842	ProgFib	skin:	n/a
36	chr2:54345792-54345842	U87	brain:	n/a
37	chr2:54340298-54340348	AG10803	skin:	n/a
38	chr2:54342651-54342701	AG04450	lung:	fetal
39	chr2:54342584-54342634	BJ	skin:	n/a
40	chr2:54350432-54350482	H1-hESC	embryonic stem cell:	embryo
41	chr2:54350432-54350482	HCM	heart:	n/a
42	chr2:54342806-54342856	Hepatocyte	liver:	n/a
43	chr2:54340298-54340348	HCM	heart:	n/a
44	chr2:54342961-54343011	GM12892	blood:	n/a
45	chr2:54345792-54345842	HRE	kidney:	n/a
46	chr2:54342651-54342701	NH-A	brain:	n/a
47	chr2:54350432-54350482	MCF-7	breast:	n/a
48	chr2:54345792-54345842	Caco-2	colon:	n/a
49	chr2:54340298-54340348	SK-N-SH_RA	brain:	n/a
50	chr2:54345792-54345842	HRCEpiC	kidney:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54198564..54201435-chr2:54359737..54361960,2	K562	blood:
2	chr2:54316468..54319152-chr2:54339625..54341327,2	K562	blood:
3	chr2:54196743..54198781-chr2:54341566..54344110,2	K562	blood:
4	chr17:79849578..79850209-chr2:54342411..54343037,2	Hela-S3	cervix:
5	chr2:54342079..54343052-chr5:109024930..109025777,2	Hela-S3	cervix:
6	chr2:54342420..54344092-chr20:46285600..46287785,2	MCF-7	breast:
7	chr2:54335252..54336789-chr2:54355206..54357354,2	MCF-7	breast:
8	chr2:54348914..54351934-chr2:54354542..54358580,3	K562	blood:
9	chr2:54340543..54343083-chr2:54350579..54352338,2	K562	blood:
10	chr2:54341520..54343821-chr2:54682367..54684141,3	MCF-7	breast:
11	chr2:54341176..54343229-chr2:54346629..54349067,2	K562	blood:
12	chr2:54342420..54344345-chr2:54367915..54370149,2	MCF-7	breast:
13	chr2:54341515..54343973-chr2:55337394..55340042,2	MCF-7	breast:
14	chr18:12947857..12948364-chr2:54342415..54343083,2	Hela-S3	cervix:
15	chr2:54353860..54357435-chr2:54358249..54361624,3	K562	blood:
16	chr2:54195752..54197966-chr2:54347709..54349839,3	K562	blood:
17	chr2:54352052..54355360-chr2:54358848..54360965,3	K562	blood:
18	chr2:54329359..54330891-chr2:54348724..54350959,2	MCF-7	breast:
19	chr2:54320228..54322780-chr2:54323373..54326100,2	K562	blood:
20	chr2:54340617..54344494-chr2:54480899..54484108,3	K562	blood:
21	chr2:54341659..54344698-chr2:54352246..54354996,3	MCF-7	breast:
22	chr2:54342236..54343923-chr2:54879380..54882162,2	MCF-7	breast:
23	chr2:54320518..54322524-chr2:54324906..54326587,2	MCF-7	breast:
24	chr2:54334014..54340621-chr2:54341231..54344595,11	MCF-7	breast:
25	chr2:54341307..54344135-chr2:54557168..54559182,2	K562	blood:
26	chr2:54341806..54344770-chr2:54784235..54787039,2	MCF-7	breast:
27	chr2:54341216..54345253-chr2:54347980..54351307,5	MCF-7	breast:
28	chr2:54343136..54344762-chr2:54350422..54352755,2	K562	blood:
29	chr2:54341795..54343300-chr2:54353986..54355682,2	K562	blood:
30	chr2:54353860..54357435-chr2:54358249..54361624,3	K562	blood:
31	chr2:54356754..54359012-chr2:54361196..54364127,2	K562	blood:
32	chr2:54341443..54343043-chr2:54557751..54559883,2	MCF-7	breast:
33	chr2:54319207..54320818-chr2:54338574..54340927,2	K562	blood:
34	chr15:76603595..76604138-chr2:54342354..54343006,2	HCT-116	colon:
35	chr2:54318413..54321728-chr2:54322663..54325829,3	K562	blood:
36	chr2:54333529..54340855-chr2:54341009..54344742,14	K562	blood:
37	chr2:54330146..54332373-chr2:54340352..54345020,6	MCF-7	breast:
38	chr2:54334195..54335002-chr2:54730347..54730951,3	MCF-7	breast:
39	chr2:54341216..54345253-chr2:54347980..54351307,5	MCF-7	breast:
40	chr19:48281526..48282040-chr2:54342571..54343371,2	NB4	blood:
41	chr2:54341176..54344555-chr2:54346430..54350020,7	K562	blood:
42	chr16:20912054..20912881-chr2:54342309..54343237,2	Hela-S3	cervix:
43	chr2:54335252..54336789-chr2:54355206..54357354,2	MCF-7	breast:
44	chr2:54324274..54325864-chr2:54340786..54342893,2	K562	blood:
45	chr2:54352052..54355360-chr2:54358848..54360965,3	K562	blood:
46	chr2:54356754..54359012-chr2:54361196..54364127,2	K562	blood:
47	chr2:54343141..54345901-chr2:54421855..54423562,2	K562	blood:
48	chr2:54343136..54344762-chr2:54350422..54352755,2	K562	blood:
49	chr2:54294456..54296366-chr2:54347167..54348766,2	K562	blood:

No data

Variant related genes	Relation type
ACYP2	TF binding region
ACYP2	CpG island
ENSG00000068878	chromatin interactions
ENSG00000177994	chromatin interactions
ENSG00000196562	chromatin interactions
ENSG00000115310	chromatin interactions
ENSG00000085415	chromatin interactions
ENSG00000102897	chromatin interactions
ENSG00000178980	chromatin interactions
ENSG00000140374	chromatin interactions
ENSG00000178021	chromatin interactions
ENSG00000112893	chromatin interactions
ENSG00000170634	chromatin interactions
ENSG00000141552	chromatin interactions
ENSG00000115306	chromatin interactions

Extended variants
information (count: 2139 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:2139 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10865279	chr2:54324701-54324702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534307183	chr2:54324706-54324707	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs61572658	chr2:54324743-54324744	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574581340	chr2:54324771-54324772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs181119827	chr2:54324815-54324816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs185327637	chr2:54324827-54324828	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs144847939	chr2:54324829-54324830	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs546500097	chr2:54324882-54324883	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs148551998	chr2:54324891-54324892	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs577364746	chr2:54324915-54324916	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs541852594	chr2:54324926-54324927	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs141945352	chr2:54324930-54324931	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190977803	chr2:54324936-54324937	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs550612381	chr2:54324945-54324946	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs368201626	chr2:54324975-54324976	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs180868505	chr2:54324978-54324979	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs529156501	chr2:54324989-54324990	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs187361006	chr2:54324995-54324996	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs77633118	chr2:54325007-54325008	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs112622014	chr2:54325008-54325009	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs552479138	chr2:54325013-54325014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs79742057	chr2:54325015-54325016	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs386646233	chr2:54325022-54325023	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs374844499	chr2:54325023-54325024	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs201169926	chr2:54325024-54325025	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs386646234	chr2:54325025-54325026	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs565670528	chr2:54325026-54325027	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs548199467	chr2:54325100-54325101	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs527656550	chr2:54325103-54325104	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs547434083	chr2:54325106-54325107	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs568020355	chr2:54325176-54325177	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371094415	chr2:54325228-54325229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs9752319	chr2:54325254-54325255	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs143491612	chr2:54325267-54325268	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs557067082	chr2:54325272-54325273	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs577387064	chr2:54325285-54325286	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs539631845	chr2:54325317-54325318	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs147367393	chr2:54325422-54325423	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs192207577	chr2:54325424-54325425	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs182930681	chr2:54325434-54325435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs575205225	chr2:54325447-54325448	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs373037256	chr2:54325500-54325501	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs377185129	chr2:54325511-54325512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs187227581	chr2:54325519-54325520	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs139609801	chr2:54325573-54325574	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs532365155	chr2:54325578-54325579	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs572132515	chr2:54325586-54325587	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs545677827	chr2:54325667-54325668	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs541021990	chr2:54325752-54325753	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs559640871	chr2:54325785-54325786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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

Chromatin state (count:997 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54280800-54331000	Weak transcription	Aorta	Aorta
2	chr2:54291200-54342000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:54318200-54330800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:54318200-54331000	Weak transcription	Brain Anterior Caudate	brain
5	chr2:54320400-54331000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:54321400-54327400	Weak transcription	Fetal Thymus	thymus
7	chr2:54321600-54327000	Weak transcription	Primary T cells from cord blood	blood
8	chr2:54321800-54326800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:54321800-54326800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:54321800-54327000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:54321800-54330800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:54321800-54331000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:54324000-54324800	Enhancers	HepG2	liver
14	chr2:54324000-54333400	Enhancers	Primary B cells from cord blood	blood
15	chr2:54324000-54334400	Enhancers	Primary B cells from peripheral blood	blood
16	chr2:54324200-54325000	Enhancers	GM12878-XiMat	blood
17	chr2:54324600-54325000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:54325000-54325200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:54325000-54325200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:54325000-54325400	Weak transcription	GM12878-XiMat	blood
21	chr2:54325000-54325400	Enhancers	HUVEC	blood vessel
22	chr2:54325200-54327000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:54325400-54327000	Enhancers	GM12878-XiMat	blood
24	chr2:54325400-54330400	Weak transcription	HUVEC	blood vessel
25	chr2:54325600-54325800	Enhancers	Brain Angular Gyrus	brain
26	chr2:54325600-54326000	Enhancers	Brain Substantia Nigra	brain
27	chr2:54325800-54334400	Weak transcription	Brain Angular Gyrus	brain
28	chr2:54326000-54334000	Weak transcription	Brain Substantia Nigra	brain
29	chr2:54326600-54330800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:54326800-54327200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:54326800-54327200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:54327000-54327400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:54327000-54327400	Enhancers	K562	blood
34	chr2:54327000-54327600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr2:54327000-54327800	Enhancers	Primary T cells from cord blood	blood
36	chr2:54327000-54327800	Flanking Active TSS	GM12878-XiMat	blood
37	chr2:54327200-54330800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:54327200-54330800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:54327400-54327800	Enhancers	Fetal Thymus	thymus
40	chr2:54327400-54331000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:54327400-54331000	Weak transcription	K562	blood
42	chr2:54327600-54328400	Enhancers	Primary hematopoietic stem cells	blood
43	chr2:54327600-54331000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:54327800-54328400	Enhancers	GM12878-XiMat	blood
45	chr2:54328400-54330800	Weak transcription	GM12878-XiMat	blood
46	chr2:54328400-54331200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr2:54329000-54332400	Enhancers	Hela-S3	cervix
48	chr2:54329200-54330600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:54329400-54329600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:54329400-54331600	Enhancers	NHDF-Ad	bronchial

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