Variant report

Variant	nsv1000039
Chromosome Location	chr1:223429733-223527845
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:432)
CpG islands
(count:305)
Chromatin interactive
region (count:76)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:432 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:223437837-223438227	K562	blood:	n/a	n/a
2	ATF1	chr1:223463122-223463279	K562	blood:	n/a	n/a
3	ATF1	chr1:223437935-223438168	K562	blood:	n/a	n/a
4	ATF1	chr1:223503476-223503539	K562	blood:	n/a	n/a
5	ATF1	chr1:223510838-223510864	K562	blood:	n/a	n/a
6	ATF2	chr1:223493381-223493840	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr1:223517140-223517264	K562	blood:	n/a	n/a
8	BHLHE40	chr1:223446837-223447224	K562	blood:	n/a	n/a
9	BHLHE40	chr1:223486540-223486668	K562	blood:	n/a	n/a
10	CBX3	chr1:223477263-223477550	K562	blood:	n/a	n/a
11	CCNT2	chr1:223437954-223438308	K562	blood:	n/a	n/a
12	CCNT2	chr1:223442399-223442599	K562	blood:	n/a	n/a
13	CCNT2	chr1:223436311-223436553	K562	blood:	n/a	n/a
14	CEBPB	chr1:223505112-223505272	HepG2	liver:	n/a	n/a
15	CEBPB	chr1:223463010-223463244	K562	blood:	n/a	n/a
16	CEBPB	chr1:223462990-223463365	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr1:223462169-223462408	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr1:223432104-223432545	A549	lung:	n/a	n/a
19	CEBPB	chr1:223462225-223462483	HepG2	liver:	n/a	n/a
20	CEBPB	chr1:223462157-223462530	MCF-7	breast:	n/a	n/a
21	CEBPB	chr1:223432080-223432519	A549	lung:	n/a	n/a
22	CEBPB	chr1:223444564-223444832	HepG2	liver:	n/a	chr1:223444673-223444686
23	CEBPB	chr1:223463067-223463326	K562	blood:	n/a	n/a
24	CEBPB	chr1:223505131-223505665	IMR90	lung:	n/a	n/a
25	CEBPB	chr1:223432004-223432646	MCF-7	breast:	n/a	n/a
26	CEBPB	chr1:223431996-223432716	A549	lung:	n/a	n/a
27	CEBPB	chr1:223432070-223432568	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr1:223432094-223432416	K562	blood:	n/a	n/a
29	CEBPB	chr1:223493255-223493424	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr1:223432085-223432473	IMR90	lung:	n/a	n/a
31	CEBPB	chr1:223463026-223463344	A549	lung:	n/a	n/a
32	CEBPB	chr1:223432172-223432599	HepG2	liver:	n/a	n/a
33	CEBPB	chr1:223463013-223463297	HepG2	liver:	n/a	n/a
34	CEBPB	chr1:223431959-223432574	HCT-116	colon:	n/a	n/a
35	CEBPD	chr1:223437801-223438275	K562	blood:	n/a	n/a
36	CEBPD	chr1:223437868-223438321	K562	blood:	n/a	n/a
37	CHD2	chr1:223461443-223461707	GM12878	blood:	n/a	n/a
38	CHD2	chr1:223461481-223461687	K562	blood:	n/a	n/a
39	CHD2	chr1:223516650-223516654	GM12878	blood:	n/a	n/a
40	CHD2	chr1:223432097-223432362	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr1:223519126-223519433	T-47D	breast:	n/a	chr1:223519277-223519295
42	CTCF	chr1:223519180-223519330	HMEC	breast:	n/a	chr1:223519277-223519295
43	CTCF	chr1:223510860-223511010	HEK293	kidney:	n/a	n/a
44	CTCF	chr1:223450080-223450230	HEK293	kidney:	n/a	n/a
45	CTCF	chr1:223493660-223493810	HepG2	liver:	n/a	n/a
46	CTCF	chr1:223430495-223430568	GM13976	blood:	n/a	n/a
47	CTCF	chr1:223502700-223502850	AG09309	skin:	n/a	n/a
48	CTCF	chr1:223438892-223438945	Fibrobl	skin:	n/a	n/a
49	CTCF	chr1:223519054-223519453	K562	blood:	n/a	chr1:223519277-223519295
50	CTCF	chr1:223526500-223526650	SK-N-SH_RA	brain:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:223494435-223494485	HRPEpiC	eye:	n/a
2	chr1:223505166-223505216	HMEC	breast:	n/a
3	chr1:223472245-223472295	Jurkat	blood:	n/a
4	chr1:223494435-223494485	AG04449	skin:	fetal
5	chr1:223435799-223435849	HCM	heart:	n/a
6	chr1:223494435-223494485	AG10803	skin:	n/a
7	chr1:223472245-223472295	HNPCEpiC	eye:	n/a
8	chr1:223472245-223472295	GM06990	blood:	n/a
9	chr1:223505166-223505216	HL-60	blood:	n/a
10	chr1:223505166-223505216	HRPEpiC	eye:	n/a
11	chr1:223505166-223505216	MCF10A-Er-Src	breast:	n/a
12	chr1:223494435-223494485	H1-hESC	embryonic stem cell:	embryo
13	chr1:223472245-223472295	BE2_C	brain:	n/a
14	chr1:223526402-223526452	GM12892	blood:	n/a
15	chr1:223505166-223505216	HNPCEpiC	eye:	n/a
16	chr1:223494435-223494485	NH-A	brain:	n/a
17	chr1:223526402-223526452	AG04449	skin:	fetal
18	chr1:223494435-223494485	GM19239	blood:	n/a
19	chr1:223435799-223435849	GM12891	blood:	n/a
20	chr1:223526402-223526452	PFSK-1	brain:	n/a
21	chr1:223526402-223526452	AG10803	skin:	n/a
22	chr1:223505166-223505216	HCM	heart:	n/a
23	chr1:223505166-223505216	AG10803	skin:	n/a
24	chr1:223526402-223526452	SK-N-MC	brain:	n/a
25	chr1:223505166-223505216	HUVEC	blood vessel:	n/a
26	chr1:223494435-223494485	SKMC	muscle:	n/a
27	chr1:223435799-223435849	NHBE	bronchial:	n/a
28	chr1:223472245-223472295	HEEpiC	esophagus:	n/a
29	chr1:223526402-223526452	IMR90	lung:	fetal
30	chr1:223472245-223472295	NHDF-neo	bronchial:	n/a
31	chr1:223505166-223505216	SK-N-SH	brain:	n/a
32	chr1:223494435-223494485	Caco-2	colon:	n/a
33	chr1:223435799-223435849	GM06990	blood:	n/a
34	chr1:223505166-223505216	HEEpiC	esophagus:	n/a
35	chr1:223494435-223494485	HL-60	blood:	n/a
36	chr1:223435799-223435849	HepG2	liver:	n/a
37	chr1:223435799-223435849	H1-hESC	embryonic stem cell:	embryo
38	chr1:223505166-223505216	PFSK-1	brain:	n/a
39	chr1:223472245-223472295	Caco-2	colon:	n/a
40	chr1:223526402-223526452	CMK	blood:	n/a
41	chr1:223472245-223472295	AG04449	skin:	fetal
42	chr1:223494435-223494485	NT2-D1	testis:	n/a
43	chr1:223505166-223505216	AG09309	skin:	n/a
44	chr1:223505166-223505216	HCPEpiC	choroid plexus:	n/a
45	chr1:223505166-223505216	AG09319	gingival:	n/a
46	chr1:223472245-223472295	GM12892	blood:	n/a
47	chr1:223526402-223526452	U87	brain:	n/a
48	chr1:223526402-223526452	Hela-S3	cervix:	n/a
49	chr1:223472245-223472295	RPTEC	kidney:	n/a
50	chr1:223435799-223435849	HMEC	breast:	n/a

(count:76 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:223497129..223500114-chr1:223509294..223511393,2	K562	blood:
2	chr1:223502794..223505270-chr1:223535922..223537884,2	MCF-7	breast:
3	chr1:223462981..223465642-chr1:223484099..223486031,2	MCF-7	breast:
4	chr1:223348177..223349036-chr1:223518828..223519736,4	MCF-7	breast:
5	chr1:223427403..223430031-chr1:223430338..223431900,2	MCF-7	breast:
6	chr1:223471938..223473458-chr1:223497150..223499757,2	K562	blood:
7	chr1:223423415..223426395-chr1:223432368..223434793,2	MCF-7	breast:
8	chr1:223348150..223348802-chr1:223518891..223519605,2	MCF-7	breast:
9	chr1:223510081..223513953-chr1:223514794..223517151,3	K562	blood:
10	chr1:223472503..223474796-chr1:223478639..223480943,2	K562	blood:
11	chr1:223431564..223434363-chr1:223444284..223446683,2	MCF-7	breast:
12	chr1:223428944..223431971-chr1:223436003..223438459,3	K562	blood:
13	chr1:223497612..223499362-chr1:223501611..223504069,2	MCF-7	breast:
14	chr1:223523045..223525039-chr1:223526417..223529119,2	K562	blood:
15	chr1:223473310..223474999-chr1:223493022..223494928,2	MCF-7	breast:
16	chr1:223508432..223510410-chr1:223512972..223514710,2	K562	blood:
17	chr1:223482285..223484073-chr1:223489102..223491218,2	K562	blood:
18	chr1:223306747..223308413-chr1:223494380..223496963,2	MCF-7	breast:
19	chr1:223527067..223530000-chr1:223534908..223536771,2	K562	blood:
20	chr1:223505491..223507807-chr1:223513867..223516012,2	K562	blood:
21	chr1:223497612..223499362-chr1:223501611..223504069,2	MCF-7	breast:
22	chr1:223505491..223507807-chr1:223513867..223516012,2	K562	blood:
23	chr1:223482285..223484073-chr1:223489102..223491218,2	K562	blood:
24	chr1:223432400..223434848-chr1:223436145..223437894,2	K562	blood:
25	chr1:223518091..223519665-chr1:223535911..223537575,2	MCF-7	breast:
26	chr1:223514593..223516719-chr1:223519953..223521559,2	K562	blood:
27	chr1:223466163..223468186-chr1:223469482..223472172,2	MCF-7	breast:
28	chr1:223439513..223441100-chr1:223441175..223442688,2	K562	blood:
29	chr1:223503941..223506228-chr1:223511294..223513326,2	MCF-7	breast:
30	chr1:223431021..223433765-chr1:223535205..223536885,2	MCF-7	breast:
31	chr1:223473310..223474999-chr1:223493022..223494928,2	MCF-7	breast:
32	chr1:223439513..223441100-chr1:223441175..223442688,2	K562	blood:
33	chr1:223398875..223400534-chr1:223430075..223432511,2	K562	blood:
34	chr1:223503941..223506228-chr1:223511294..223513326,2	MCF-7	breast:
35	chr1:223443250..223444917-chr1:223494926..223496525,2	K562	blood:
36	chr1:223482509..223485104-chr1:223493881..223496147,2	K562	blood:
37	chr1:223407302..223409358-chr1:223443045..223444830,2	K562	blood:
38	chr1:223443250..223444917-chr1:223494926..223496525,2	K562	blood:
39	chr1:223424612..223427154-chr1:223429985..223432180,2	MCF-7	breast:
40	chr1:223519202..223521587-chr1:223525632..223530010,3	MCF-7	breast:
41	chr1:223462981..223465642-chr1:223484099..223486031,2	MCF-7	breast:
42	chr1:223472503..223474796-chr1:223478639..223480943,2	K562	blood:
43	chr1:223438407..223440755-chr1:223638365..223640039,2	K562	blood:
44	chr1:223466163..223468186-chr1:223469482..223472172,2	MCF-7	breast:
45	chr1:223466621..223469312-chr1:223470297..223473880,3	K562	blood:
46	chr1:223496498..223499043-chr1:223513776..223516102,2	K562	blood:
47	chr1:223523045..223525039-chr1:223526417..223529119,2	K562	blood:
48	chr1:223435954..223437626-chr1:223439880..223442185,2	K562	blood:
49	chr1:223504054..223506980-chr1:223508583..223510799,2	K562	blood:
50	chr1:223497129..223500114-chr1:223509294..223511393,2	K562	blood:

No data

Variant related genes	Relation type
SUSD4	TF binding region
SUSD4	CpG island
ENSG00000143502	chromatin interactions
ENSG00000187554	chromatin interactions
ENSG00000178395	chromatin interactions
ENSG00000236846	chromatin interactions

Extended variants
information (count: 3364 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:3364 , 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	rs183370735	chr1:223429737-223429738	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541775131	chr1:223429773-223429774	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372329766	chr1:223429783-223429784	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530454934	chr1:223429917-223429918	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550716418	chr1:223429949-223429950	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539830594	chr1:223430025-223430026	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188060534	chr1:223430050-223430051	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545903137	chr1:223430062-223430063	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564212551	chr1:223430079-223430080	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528197188	chr1:223430122-223430123	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148938400	chr1:223430148-223430149	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111947328	chr1:223430169-223430170	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79077054	chr1:223430221-223430222	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551020356	chr1:223430222-223430223	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555460985	chr1:223430259-223430260	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539490568	chr1:223430260-223430261	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557830867	chr1:223430353-223430354	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566581658	chr1:223430357-223430358	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546570408	chr1:223430448-223430449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115619498	chr1:223430484-223430485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552716718	chr1:223430503-223430504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574572083	chr1:223430530-223430531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542090500	chr1:223430550-223430551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143805627	chr1:223430574-223430575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138490100	chr1:223430587-223430588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201817713	chr1:223430624-223430625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575347633	chr1:223430649-223430650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116161447	chr1:223430658-223430659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191283809	chr1:223430666-223430667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113889113	chr1:223430707-223430708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs80005228	chr1:223430716-223430717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540349437	chr1:223430754-223430755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75530093	chr1:223430808-223430809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529498616	chr1:223430888-223430889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544083771	chr1:223430898-223430899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74145788	chr1:223430900-223430901	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs34084037	chr1:223430912-223430913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569496785	chr1:223430915-223430916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558495454	chr1:223430923-223430924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111706059	chr1:223430925-223430926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564344706	chr1:223430928-223430929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73122222	chr1:223430958-223430959	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs566545115	chr1:223430997-223430998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534003921	chr1:223431016-223431017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183463165	chr1:223431045-223431046	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs542593122	chr1:223431081-223431082	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs35417280	chr1:223431083-223431084	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs374265622	chr1:223431091-223431092	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568234079	chr1:223431100-223431101	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs535334360	chr1:223431101-223431102	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:589 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223423800-223439600	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:223424200-223438800	Weak transcription	Ovary	ovary
3	chr1:223424400-223431800	Weak transcription	Fetal Intestine Small	intestine
4	chr1:223427400-223442000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr1:223428400-223432200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:223428800-223430200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:223429000-223429800	Enhancers	Stomach Mucosa	stomach
8	chr1:223429000-223430200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:223429000-223430200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:223429000-223430200	Enhancers	Esophagus	oesophagus
11	chr1:223429000-223430200	Enhancers	NHEK	skin
12	chr1:223429000-223430400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:223429000-223430400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:223429200-223429800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:223429200-223429800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:223429200-223429800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:223429200-223429800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:223429200-223429800	Enhancers	A549	lung
19	chr1:223429200-223430400	Enhancers	HMEC	breast
20	chr1:223429600-223430000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr1:223429600-223431600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:223429600-223431800	Strong transcription	Primary T cells from cord blood	blood
23	chr1:223429800-223431400	Weak transcription	A549	lung
24	chr1:223429800-223431800	Weak transcription	Stomach Mucosa	stomach
25	chr1:223430200-223431800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:223430200-223431800	Weak transcription	NHEK	skin
27	chr1:223430200-223432000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:223430200-223432000	Weak transcription	Esophagus	oesophagus
29	chr1:223430400-223432000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:223430400-223432000	Weak transcription	HMEC	breast
31	chr1:223431200-223432200	Weak transcription	Pancreas	Pancrea
32	chr1:223431400-223433000	Enhancers	A549	lung
33	chr1:223431400-223433600	Enhancers	Fetal Intestine Large	intestine
34	chr1:223431600-223432400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr1:223431800-223432200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:223431800-223432600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:223431800-223432600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:223431800-223432600	Enhancers	Stomach Mucosa	stomach
39	chr1:223431800-223432600	Enhancers	NHEK	skin
40	chr1:223431800-223433000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:223431800-223433200	Enhancers	Fetal Intestine Small	intestine
42	chr1:223431800-223433400	Weak transcription	Primary T cells from cord blood	blood
43	chr1:223432000-223432400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:223432000-223432400	Enhancers	Placenta Amnion	Placenta Amnion
45	chr1:223432000-223432600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:223432000-223432600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:223432000-223432600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:223432000-223432600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr1:223432000-223432600	Enhancers	HMEC	breast
50	chr1:223432000-223432600	Enhancers	K562	blood

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