Variant report

Variant	nsv427908
Chromosome Location	chr1:197611569-197767362
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1499)
CpG islands
(count:1221)
Chromatin interactive
region (count:115)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1499 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:197747923-197747970	K562	blood:	n/a	n/a
2	ARID3A	chr1:197646598-197647338	K562	blood:	n/a	n/a
3	ARID3A	chr1:197739331-197739333	K562	blood:	n/a	n/a
4	ARID3A	chr1:197747071-197747668	K562	blood:	n/a	n/a
5	ARID3A	chr1:197684109-197684259	HepG2	liver:	n/a	chr1:197684219-197684235
6	ARID3A	chr1:197731267-197731321	K562	blood:	n/a	n/a
7	ARID3A	chr1:197744432-197744632	K562	blood:	n/a	n/a
8	ARID3A	chr1:197694328-197694543	HepG2	liver:	n/a	n/a
9	ARID3A	chr1:197611757-197611859	K562	blood:	n/a	n/a
10	ARID3A	chr1:197694163-197694562	K562	blood:	n/a	n/a
11	ARID3A	chr1:197644643-197644869	K562	blood:	n/a	n/a
12	ARID3A	chr1:197743883-197744069	HepG2	liver:	n/a	n/a
13	ARID3A	chr1:197744472-197745271	HepG2	liver:	n/a	n/a
14	ATF1	chr1:197701427-197701605	K562	blood:	n/a	n/a
15	ATF1	chr1:197628585-197628753	K562	blood:	n/a	n/a
16	ATF1	chr1:197707446-197707646	K562	blood:	n/a	n/a
17	ATF1	chr1:197692747-197692775	K562	blood:	n/a	n/a
18	ATF1	chr1:197659216-197659501	K562	blood:	n/a	n/a
19	ATF1	chr1:197744981-197745718	K562	blood:	n/a	n/a
20	ATF1	chr1:197715167-197715351	K562	blood:	n/a	n/a
21	ATF1	chr1:197662155-197662348	K562	blood:	n/a	n/a
22	ATF2	chr1:197745416-197746301	GM12878	blood:	n/a	n/a
23	ATF2	chr1:197744826-197745189	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF2	chr1:197745507-197746223	GM12878	blood:	n/a	n/a
25	ATF3	chr1:197659190-197659476	K562	blood:	n/a	n/a
26	ATF3	chr1:197744789-197745123	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF3	chr1:197744876-197745151	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF3	chr1:197744821-197745227	K562	blood:	n/a	n/a
29	BACH1	chr1:197744259-197744803	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr1:197709644-197709758	K562	blood:	n/a	n/a
31	BACH1	chr1:197743310-197743333	K562	blood:	n/a	n/a
32	BACH1	chr1:197731217-197731535	K562	blood:	n/a	n/a
33	BATF	chr1:197745469-197746101	GM12878	blood:	n/a	chr1:197745746-197745757 chr1:197745567-197745576
34	BCL3	chr1:197744387-197744765	GM12878	blood:	n/a	n/a
35	BCLAF1	chr1:197744142-197744800	GM12878	blood:	n/a	chr1:197744190-197744199
36	BHLHE40	chr1:197644677-197645357	K562	blood:	n/a	n/a
37	BHLHE40	chr1:197675686-197675706	GM12878	blood:	n/a	n/a
38	BHLHE40	chr1:197743783-197745381	K562	blood:	n/a	n/a
39	BHLHE40	chr1:197745683-197746208	GM12878	blood:	n/a	n/a
40	BHLHE40	chr1:197744371-197744802	GM12878	blood:	n/a	n/a
41	BHLHE40	chr1:197715146-197715357	K562	blood:	n/a	n/a
42	BRCA1	chr1:197688042-197688145	Hela-S3	cervix:	n/a	n/a
43	BRCA1	chr1:197637535-197637557	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr1:197744616-197744627	HepG2	liver:	n/a	n/a
45	BRCA1	chr1:197662092-197662375	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr1:197743009-197743971	Hela-S3	cervix:	n/a	n/a
47	BRCA1	chr1:197744565-197744747	Hela-S3	cervix:	n/a	n/a
48	CBX3	chr1:197747481-197747845	K562	blood:	n/a	n/a
49	CBX3	chr1:197721815-197722235	K562	blood:	n/a	n/a
50	CBX3	chr1:197657426-197657826	K562	blood:	n/a	n/a

(count:1221 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:197744782-197744832	SK-N-MC	brain:	n/a
2	chr1:197744782-197744832	SK-N-MC	brain:	n/a
3	chr1:197744787-197744837	GM12878	blood:	n/a
4	chr1:197743960-197744010	HRE	kidney:	n/a
5	chr1:197744929-197744979	AG10803	skin:	n/a
6	chr1:197744252-197744302	HRE	kidney:	n/a
7	chr1:197744226-197744276	HCF	heart:	n/a
8	chr1:197745025-197745075	NT2-D1	testis:	n/a
9	chr1:197745159-197745209	PANC-1	pancreas:	n/a
10	chr1:197744226-197744276	U87	brain:	n/a
11	chr1:197744757-197744807	AG10803	skin:	n/a
12	chr1:197757199-197757249	HEEpiC	esophagus:	n/a
13	chr1:197744787-197744837	HIPEpiC	eye:	n/a
14	chr1:197744787-197744837	T-47D	breast:	n/a
15	chr1:197744782-197744832	PrEC	prostate:	n/a
16	chr1:197745159-197745209	ProgFib	skin:	n/a
17	chr1:197743842-197743892	AG10803	skin:	n/a
18	chr1:197757199-197757249	Hepatocyte	liver:	n/a
19	chr1:197704837-197704887	HPAEpiC	pulmonary alveolar:	n/a
20	chr1:197747884-197747934	NH-A	brain:	n/a
21	chr1:197747884-197747934	HUVEC	blood vessel:	n/a
22	chr1:197747884-197747934	GM06990	blood:	n/a
23	chr1:197745025-197745075	ovcar-3	ovarian:	n/a
24	chr1:197752035-197752085	GM12878	blood:	n/a
25	chr1:197744782-197744832	AG04450	lung:	fetal
26	chr1:197743960-197744010	LNCaP	prostate:	n/a
27	chr1:197747884-197747934	HNPCEpiC	eye:	n/a
28	chr1:197704881-197704931	GM12891	blood:	n/a
29	chr1:197704837-197704887	BJ	skin:	n/a
30	chr1:197744226-197744276	GM12891	blood:	n/a
31	chr1:197744226-197744276	SK-N-SH_RA	brain:	n/a
32	chr1:197745238-197745288	HCM	heart:	n/a
33	chr1:197745159-197745209	Hela-S3	cervix:	n/a
34	chr1:197752035-197752085	PFSK-1	brain:	n/a
35	chr1:197745025-197745075	HEK293	kidney:	embryo
36	chr1:197747884-197747934	GM19239	blood:	n/a
37	chr1:197757199-197757249	U87	brain:	n/a
38	chr1:197704837-197704887	HEEpiC	esophagus:	n/a
39	chr1:197757199-197757249	HMEC	breast:	n/a
40	chr1:197743842-197743892	NH-A	brain:	n/a
41	chr1:197744757-197744807	LNCaP	prostate:	n/a
42	chr1:197744787-197744837	HPAEpiC	pulmonary alveolar:	n/a
43	chr1:197744782-197744832	BE2_C	brain:	n/a
44	chr1:197745238-197745288	K562	blood:	n/a
45	chr1:197747884-197747934	RPTEC	kidney:	n/a
46	chr1:197744226-197744276	AoSMC	blood vessel:	n/a
47	chr1:197752035-197752085	SK-N-MC	brain:	n/a
48	chr1:197752035-197752085	HEEpiC	esophagus:	n/a
49	chr1:197744787-197744837	HL-60	blood:	n/a
50	chr1:197752035-197752085	HIPEpiC	eye:	n/a

(count:115 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:197627378..197633637-chr1:197637134..197640584,7	K562	blood:
2	chr1:197661830..197662539-chr1:197893369..197893878,3	MCF-7	breast:
3	chr1:197692208..197693791-chr1:197705575..197708266,2	K562	blood:
4	chr1:197732668..197735074-chr1:197783353..197785359,2	MCF-7	breast:
5	chr1:197743551..197744408-chr17:7591641..7592156,2	NB4	blood:
6	chr1:197691912..197694197-chr1:197700256..197701891,2	K562	blood:
7	chr1:197661907..197662504-chr1:197884615..197885431,2	MCF-7	breast:
8	chr1:197628715..197631555-chr1:197637374..197639292,2	MCF-7	breast:
9	chr1:197722193..197724114-chr1:197726600..197728818,2	K562	blood:
10	chr1:197724351..197725898-chr1:197743351..197745684,2	MCF-7	breast:
11	chr1:197669252..197673459-chr1:197743220..197745341,4	MCF-7	breast:
12	chr1:197751597..197753233-chr1:197754046..197756710,2	MCF-7	breast:
13	chr1:197748060..197749857-chr1:197751111..197752675,2	MCF-7	breast:
14	chr1:197634768..197637407-chr1:197639641..197641579,2	K562	blood:
15	chr1:197620433..197622127-chr1:197700140..197702120,2	K562	blood:
16	chr1:197701490..197704107-chr1:197709565..197711301,2	K562	blood:
17	chr1:197614829..197617182-chr1:197621263..197623211,2	K562	blood:
18	chr1:197747186..197749989-chr1:197754169..197755959,2	MCF-7	breast:
19	chr1:197742918..197744605-chr1:197764250..197765768,2	MCF-7	breast:
20	chr1:197688429..197690737-chr1:197693121..197696010,2	MCF-7	breast:
21	chr1:197730915..197735254-chr1:197735457..197740919,5	K562	blood:
22	chr1:197613381..197615580-chr1:197616479..197618755,2	K562	blood:
23	chr1:197673320..197676128-chr1:197685420..197687485,2	K562	blood:
24	chr1:197623895..197625439-chr1:197644828..197646522,2	K562	blood:
25	chr1:197653272..197654957-chr1:197663523..197666309,2	K562	blood:
26	chr1:197740776..197744504-chr1:197869951..197872253,3	K562	blood:
27	chr1:197662721..197665578-chr1:197743679..197745656,2	MCF-7	breast:
28	chr1:197685915..197688050-chr1:197690516..197693253,2	MCF-7	breast:
29	chr1:197683448..197686429-chr1:197686441..197688273,2	K562	blood:
30	chr1:197701490..197704107-chr1:197709565..197711301,2	K562	blood:
31	chr1:197694509..197697349-chr1:197703943..197706021,2	MCF-7	breast:
32	chr1:197686076..197688310-chr1:197699419..197702157,2	K562	blood:
33	chr1:197684119..197686608-chr1:197731962..197734836,2	MCF-7	breast:
34	chr1:197669335..197671287-chr1:197871295..197873038,2	MCF-7	breast:
35	chr1:197652165..197657690-chr1:197657725..197663370,6	K562	blood:
36	chr1:197683448..197686429-chr1:197686441..197688273,2	K562	blood:
37	chr1:197724120..197727338-chr1:197727664..197731046,4	K562	blood:
38	chr1:197706625..197709400-chr1:197710251..197713580,3	MCF-7	breast:
39	chr1:197730915..197735254-chr1:197735457..197740919,5	K562	blood:
40	chr1:197634768..197637407-chr1:197639641..197641579,2	K562	blood:
41	chr1:197650384..197656370-chr1:197660434..197666309,6	K562	blood:
42	chr1:197706025..197708268-chr1:197708751..197710407,2	MCF-7	breast:
43	chr1:197674181..197674740-chr12:111020839..111021339,2	MCF-7	breast:
44	chr1:197620433..197622127-chr1:197700140..197702120,2	K562	blood:
45	chr1:197637854..197639785-chr1:197643428..197645113,2	K562	blood:
46	chr1:197654756..197656407-chr1:197656576..197658427,2	MCF-7	breast:
47	chr1:197661828..197662611-chr1:197837848..197838634,2	MCF-7	breast:
48	chr1:197748060..197749857-chr1:197751111..197752675,2	MCF-7	breast:
49	chr1:197610998..197613034-chr1:197615077..197617017,2	MCF-7	breast:
50	chr1:197614829..197617182-chr1:197621263..197623211,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZBTB41-7	chr1:197715881-197716581	NONHSAT008634
2	lnc-ZBTB41-6	chr1:197741998-197742062	NONHSAT008631
3	lnc-C1orf53-1	chr1:197726449-197726531	ENSG00000224901.1
4	lnc-ZBTB41-6	chr1:197704380-197704926	NONHSAT008631
5	lnc-ZBTB41-6	chr1:197743617-197743737	NONHSAT008631
6	lnc-C1orf53-1	chr1:197730932-197731095	ENSG00000224901.1

No data

Variant related genes	Relation type
DENND1B	TF binding region
FAM204BP	TF binding region
ENSG00000224901	TF binding region
ENSG00000235582	TF binding region
ENSG00000207139	TF binding region
EEF1A1P32	TF binding region
DENND1B	CpG island
FAM204BP	CpG island
ENSG00000224901	CpG island
ENSG00000235582	CpG island
ENSG00000207139	CpG island
EEF1A1P32	CpG island
ENSG00000235582	chromatin interactions
ENSG00000196850	chromatin interactions
ENSG00000213047	chromatin interactions
ENSG00000152348	chromatin interactions
ENSG00000198815	chromatin interactions
ENSG00000207139	chromatin interactions
ENSG00000143355	chromatin interactions
ENSG00000224901	chromatin interactions
ENSG00000141499	chromatin interactions
ENSG00000233040	chromatin interactions
ENSG00000203724	chromatin interactions
ENSG00000213046	chromatin interactions

Extended variants
information (count: 5025 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:5025 , 50 per page) page: 1 2 3 4 5 6 7 ... 101

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558041444	chr1:197611584-197611585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140377646	chr1:197611585-197611586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541386465	chr1:197611652-197611653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372392692	chr1:197611666-197611667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562956073	chr1:197611678-197611679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs16841842	chr1:197611682-197611683	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs563533820	chr1:197611708-197611709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369063267	chr1:197611718-197611719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76411838	chr1:197611724-197611725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371375123	chr1:197611777-197611778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190375011	chr1:197611778-197611779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377109665	chr1:197611809-197611810	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369605783	chr1:197611824-197611825	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7546381	chr1:197611867-197611868	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200269966	chr1:197611868-197611869	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200108172	chr1:197611889-197611890	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546559211	chr1:197611909-197611910	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7523384	chr1:197611925-197611926	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370984373	chr1:197611947-197611948	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7523397	chr1:197611966-197611967	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373814196	chr1:197611980-197611981	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375744947	chr1:197611988-197611989	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375942181	chr1:197611994-197611995	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561557096	chr1:197612023-197612024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193293681	chr1:197612036-197612037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113914076	chr1:197612038-197612039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7515334	chr1:197612076-197612077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79714670	chr1:197612110-197612111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6428414	chr1:197612115-197612116	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs539592064	chr1:197612117-197612118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115321075	chr1:197612143-197612144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10922269	chr1:197612247-197612248	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs201125658	chr1:197612264-197612265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7517850	chr1:197612269-197612270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531784884	chr1:197612302-197612303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550218433	chr1:197612303-197612304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184225576	chr1:197612354-197612355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140471321	chr1:197612360-197612361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7549077	chr1:197612377-197612378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535465837	chr1:197612395-197612396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556991215	chr1:197612407-197612408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7526039	chr1:197612420-197612421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367655704	chr1:197612445-197612446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545955366	chr1:197612479-197612480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564560910	chr1:197612507-197612508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2477553	chr1:197612551-197612552	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs540614556	chr1:197612657-197612658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567728759	chr1:197612668-197612669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561712221	chr1:197612687-197612688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528851098	chr1:197612699-197612700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	20472715	CNVD
Multiple myeloma	16461302	CNVD
Leukoplakia	24403051	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2202 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197542000-197626400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:197553000-197629800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:197565000-197611600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:197590000-197613400	Weak transcription	Stomach Mucosa	stomach
5	chr1:197593600-197628400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:197596600-197644800	Weak transcription	Ovary	ovary
7	chr1:197598800-197628600	Weak transcription	NHDF-Ad	bronchial
8	chr1:197599200-197628600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:197602800-197615200	Weak transcription	Pancreas	Pancrea
10	chr1:197602800-197625000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:197602800-197641400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr1:197603000-197612600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:197603000-197614000	Weak transcription	Lung	lung
14	chr1:197603000-197620400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:197603000-197621200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:197603000-197625200	Weak transcription	Thymus	Thymus
17	chr1:197603000-197627800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:197603000-197628600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:197603000-197632400	Weak transcription	Fetal Lung	lung
20	chr1:197603000-197632600	Weak transcription	Small Intestine	intestine
21	chr1:197603200-197625000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:197603200-197625200	Weak transcription	Left Ventricle	heart
23	chr1:197603200-197626600	Weak transcription	Fetal Stomach	stomach
24	chr1:197603200-197628400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:197603200-197645000	Weak transcription	Esophagus	oesophagus
26	chr1:197603400-197618000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:197603400-197624800	Weak transcription	Right Ventricle	heart
28	chr1:197603400-197643400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:197604000-197626400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr1:197604000-197628200	Weak transcription	Liver	Liver
31	chr1:197604200-197635200	Weak transcription	Aorta	Aorta
32	chr1:197604600-197626400	Weak transcription	Primary T cells from cord blood	blood
33	chr1:197604800-197611800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:197605400-197612200	Strong transcription	Dnd41	blood
35	chr1:197607800-197622800	Weak transcription	NH-A	brain
36	chr1:197608400-197615200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:197608400-197628400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr1:197608600-197631400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:197608800-197612800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:197609000-197613800	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr1:197609000-197614000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:197609000-197628000	Weak transcription	Fetal Kidney	kidney
43	chr1:197609600-197611800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr1:197609600-197613800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:197609600-197621600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:197609800-197613200	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr1:197609800-197614400	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:197610000-197612800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:197610200-197612600	Weak transcription	Brain Substantia Nigra	brain
50	chr1:197610200-197626200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links