Variant report

Variant	nsv1008306
Chromosome Location	chr3:22762892-23026548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1405)
CpG islands
(count:123)
Chromatin interactive
region (count:58)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1405 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:22963882-22964082	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:23001822-23002207	HepG2	liver:	n/a	chr3:23002149-23002165
3	ATF1	chr3:22838379-22838488	K562	blood:	n/a	n/a
4	ATF2	chr3:23001067-23001411	GM12878	blood:	n/a	n/a
5	ATF2	chr3:23000954-23001509	GM12878	blood:	n/a	n/a
6	BACH1	chr3:22876658-22876746	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr3:23001008-23001399	GM12878	blood:	n/a	n/a
8	BATF	chr3:23001073-23001474	GM12878	blood:	n/a	n/a
9	BCL3	chr3:23001064-23001473	GM12878	blood:	n/a	n/a
10	BCLAF1	chr3:23001102-23001431	GM12878	blood:	n/a	n/a
11	BHLHE40	chr3:23001827-23002186	GM12878	blood:	n/a	n/a
12	BRCA1	chr3:22866807-22866832	GM12878	blood:	n/a	n/a
13	CCNT2	chr3:22977976-22978109	K562	blood:	n/a	n/a
14	CEBPB	chr3:22808930-22809139	K562	blood:	n/a	chr3:22809074-22809085
15	CEBPB	chr3:22829967-22830308	IMR90	lung:	n/a	chr3:22830144-22830155
16	CEBPB	chr3:22830014-22830272	HepG2	liver:	n/a	chr3:22830144-22830155
17	CEBPB	chr3:22772271-22772583	HepG2	liver:	n/a	chr3:22772429-22772440
18	CEBPB	chr3:22824731-22824944	HepG2	liver:	n/a	chr3:22824780-22824791
19	CEBPB	chr3:22892589-22892867	IMR90	lung:	n/a	chr3:22892699-22892708 chr3:22892698-22892709 chr3:22892699-22892708 chr3:22892699-22892708 chr3:22892697-22892708 chr3:22892699-22892708
20	CEBPB	chr3:22877091-22877663	HepG2	liver:	n/a	chr3:22877489-22877498 chr3:22877489-22877500 chr3:22877487-22877498 chr3:22877487-22877500
21	CEBPB	chr3:22813116-22813156	H1-hESC	embryonic stem cell:	n/a	chr3:22813118-22813131
22	CEBPB	chr3:23024638-23025170	MCF-7	breast:	n/a	chr3:23024900-23024913 chr3:23024901-23024912
23	CEBPB	chr3:23001846-23002252	A549	lung:	n/a	n/a
24	CEBPB	chr3:22824674-22824851	A549	lung:	n/a	chr3:22824780-22824791
25	CEBPB	chr3:22854791-22855109	A549	lung:	n/a	chr3:22854853-22854864
26	CEBPB	chr3:23024804-23025046	HepG2	liver:	n/a	chr3:23024900-23024913 chr3:23024901-23024912
27	CEBPB	chr3:22959284-22959711	HepG2	liver:	n/a	chr3:22959635-22959652
28	CEBPB	chr3:23024920-23024940	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr3:23024688-23025160	Hela-S3	cervix:	n/a	chr3:23024900-23024913 chr3:23024901-23024912
30	CEBPB	chr3:23010804-23011064	A549	lung:	n/a	chr3:23010943-23010954
31	CEBPB	chr3:23024741-23025112	MCF-7	breast:	n/a	chr3:23024900-23024913 chr3:23024901-23024912
32	CEBPB	chr3:22830066-22830284	K562	blood:	n/a	chr3:22830144-22830155
33	CEBPB	chr3:22927183-22927811	Hela-S3	cervix:	n/a	chr3:22927256-22927269
34	CEBPB	chr3:22959285-22959721	A549	lung:	n/a	chr3:22959635-22959652
35	CEBPB	chr3:22941868-22942133	HepG2	liver:	n/a	chr3:22942020-22942031
36	CEBPB	chr3:22807813-22808145	A549	lung:	n/a	chr3:22807955-22807966
37	CEBPB	chr3:23021817-23022215	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr3:23024753-23025053	A549	lung:	n/a	chr3:23024900-23024913 chr3:23024901-23024912
39	CEBPB	chr3:22892690-22892792	H1-hESC	embryonic stem cell:	n/a	chr3:22892699-22892708 chr3:22892698-22892709 chr3:22892699-22892708 chr3:22892699-22892708 chr3:22892697-22892708 chr3:22892699-22892708
40	CEBPB	chr3:23010786-23011084	HepG2	liver:	n/a	chr3:23010943-23010954
41	CEBPB	chr3:22892596-22892824	HepG2	liver:	n/a	chr3:22892699-22892708 chr3:22892698-22892709 chr3:22892699-22892708 chr3:22892699-22892708 chr3:22892697-22892708 chr3:22892699-22892708
42	CEBPB	chr3:22959293-22959658	IMR90	lung:	n/a	chr3:22959635-22959652
43	CEBPB	chr3:22981693-22981708	K562	blood:	n/a	n/a
44	CEBPB	chr3:22817438-22817635	HepG2	liver:	n/a	chr3:22817570-22817581
45	CEBPB	chr3:22807797-22808121	HepG2	liver:	n/a	chr3:22807955-22807966
46	CEBPB	chr3:22807788-22808115	IMR90	lung:	n/a	chr3:22807955-22807966
47	CEBPB	chr3:22807874-22808037	Hela-S3	cervix:	n/a	chr3:22807955-22807966
48	CEBPB	chr3:22876602-22876809	A549	lung:	n/a	n/a
49	CEBPB	chr3:22830026-22830226	H1-hESC	embryonic stem cell:	n/a	chr3:22830144-22830155
50	CEBPB	chr3:22959259-22959679	Hela-S3	cervix:	n/a	chr3:22959635-22959652

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:22843137-22843187	SAEC	small airway:	n/a
2	chr3:22843137-22843187	SAEC	small airway:	n/a
3	chr3:22843137-22843187	NT2-D1	testis:	n/a
4	chr3:22843137-22843187	HRCEpiC	kidney:	n/a
5	chr3:22843137-22843187	SK-N-SH_RA	brain:	n/a
6	chr3:22834726-22834776	NB4	blood:	n/a
7	chr3:22834726-22834776	PrEC	prostate:	n/a
8	chr3:22834726-22834776	PANC-1	pancreas:	n/a
9	chr3:22843137-22843187	AoSMC	blood vessel:	n/a
10	chr3:22843137-22843187	AG04449	skin:	fetal
11	chr3:22834726-22834776	Hepatocyte	liver:	n/a
12	chr3:22843137-22843187	ProgFib	skin:	n/a
13	chr3:22834726-22834776	A549	lung:	n/a
14	chr3:22843137-22843187	NH-A	brain:	n/a
15	chr3:22843137-22843187	AG10803	skin:	n/a
16	chr3:22843137-22843187	BE2_C	brain:	n/a
17	chr3:22843137-22843187	Hela-S3	cervix:	n/a
18	chr3:22834726-22834776	IMR90	lung:	fetal
19	chr3:22843137-22843187	HPAEpiC	pulmonary alveolar:	n/a
20	chr3:22834726-22834776	AG04450	lung:	fetal
21	chr3:22843137-22843187	BJ	skin:	n/a
22	chr3:22834726-22834776	MCF-7	breast:	n/a
23	chr3:22834726-22834776	RPTEC	kidney:	n/a
24	chr3:22843137-22843187	HepG2	liver:	n/a
25	chr3:22843137-22843187	HNPCEpiC	eye:	n/a
26	chr3:22834726-22834776	HCM	heart:	n/a
27	chr3:22834726-22834776	GM12891	blood:	n/a
28	chr3:22834726-22834776	HEEpiC	esophagus:	n/a
29	chr3:22843137-22843187	SK-N-MC	brain:	n/a
30	chr3:22834726-22834776	NH-A	brain:	n/a
31	chr3:22843137-22843187	NHDF-neo	bronchial:	n/a
32	chr3:22834726-22834776	HPAEpiC	pulmonary alveolar:	n/a
33	chr3:22834726-22834776	ProgFib	skin:	n/a
34	chr3:22834726-22834776	AoSMC	blood vessel:	n/a
35	chr3:22843137-22843187	HL-60	blood:	n/a
36	chr3:22834726-22834776	GM12892	blood:	n/a
37	chr3:22834726-22834776	ovcar-3	ovarian:	n/a
38	chr3:22834726-22834776	BJ	skin:	n/a
39	chr3:22834726-22834776	HMEC	breast:	n/a
40	chr3:22834726-22834776	SK-N-SH	brain:	n/a
41	chr3:22834726-22834776	ECC-1	luminal epithelium:	n/a
42	chr3:22834726-22834776	SAEC	small airway:	n/a
43	chr3:22843137-22843187	SKMC	muscle:	n/a
44	chr3:22843137-22843187	HRPEpiC	eye:	n/a
45	chr3:22834726-22834776	HAEpiC	amniotic membrane:	n/a
46	chr3:22843137-22843187	Jurkat	blood:	n/a
47	chr3:22843137-22843187	NHBE	bronchial:	n/a
48	chr3:22843137-22843187	HEEpiC	esophagus:	n/a
49	chr3:22843137-22843187	ECC-1	luminal epithelium:	n/a
50	chr3:22834726-22834776	HRCEpiC	kidney:	n/a

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:22605314..22606827-chr3:23001573..23002522,7	MCF-7	breast:
2	chr3:22997497..23000412-chr3:23001550..23003702,2	K562	blood:
3	chr3:22786053..22788405-chr3:22793906..22796307,2	MCF-7	breast:
4	chr3:22762695..22766191-chr3:22767247..22769971,3	MCF-7	breast:
5	chr10:118596641..118597304-chr3:22865951..22866785,2	MCF-7	breast:
6	chr3:22804037..22805757-chr3:23957373..23959128,2	K562	blood:
7	chr3:22762494..22764619-chr3:22766448..22769090,2	K562	blood:
8	chr3:22937203..22939842-chr3:22940484..22942154,2	K562	blood:
9	chr3:22762695..22766191-chr3:22767247..22769971,3	MCF-7	breast:
10	chr3:22762494..22764619-chr3:22766448..22769090,2	K562	blood:
11	chr3:23001996..23003557-chr3:23243034..23245910,2	MCF-7	breast:
12	chr3:22785472..22787166-chr3:22787468..22789169,2	MCF-7	breast:
13	chr3:22993477..22995035-chr3:22997792..23000607,2	MCF-7	breast:
14	chr3:22808136..22810861-chr3:22815889..22818179,2	K562	blood:
15	chr3:22771477..22772449-chr3:22985846..22986742,2	MCF-7	breast:
16	chr3:22770781..22772111-chr3:23001246..23002368,7	MCF-7	breast:
17	chr3:22808136..22810861-chr3:22815889..22818179,2	K562	blood:
18	chr3:22784017..22786866-chr3:22809414..22812166,2	MCF-7	breast:
19	chr3:22975365..22978153-chr3:22981421..22983815,2	MCF-7	breast:
20	chr3:22803714..22805482-chr3:22807294..22809398,2	K562	blood:
21	chr3:22771584..22772119-chr3:23001665..23002525,2	MCF-7	breast:
22	chr3:22784017..22786866-chr3:22809414..22812166,2	MCF-7	breast:
23	chr3:22771584..22772119-chr3:23001665..23002525,2	MCF-7	breast:
24	chr3:22605268..22606284-chr3:22928941..22929846,5	MCF-7	breast:
25	chr3:22786053..22788405-chr3:22793906..22796307,2	MCF-7	breast:
26	chr3:22785472..22787166-chr3:22787468..22789169,2	MCF-7	breast:
27	chr3:22771477..22772449-chr3:22985846..22986742,2	MCF-7	breast:
28	chr3:22771212..22772136-chr3:22903356..22904056,6	MCF-7	breast:
29	chr3:22605215..22605962-chr3:22950443..22950968,2	MCF-7	breast:
30	chr3:22874201..22876969-chr3:22880901..22883798,2	MCF-7	breast:
31	chr3:22794268..22797124-chr3:22799597..22801489,2	MCF-7	breast:
32	chr3:22770781..22772111-chr3:23001246..23002368,7	MCF-7	breast:
33	chr3:22771112..22772132-chr3:22928764..22929789,6	MCF-7	breast:
34	chr3:22837465..22837989-chr3:22929309..22930132,2	MCF-7	breast:
35	chr3:22837140..22837804-chr3:22903829..22904564,2	MCF-7	breast:
36	chr3:22963782..22964436-chr3:23093755..23094344,2	MCF-7	breast:
37	chr3:22993477..22995035-chr3:22997792..23000607,2	MCF-7	breast:
38	chr3:22771112..22772132-chr3:22928764..22929789,6	MCF-7	breast:
39	chr20:55745009..55745884-chr3:23021870..23022531,2	MCF-7	breast:
40	chr3:23025721..23027928-chr3:23045824..23048588,2	MCF-7	breast:
41	chr3:22794268..22797124-chr3:22799597..22801489,2	MCF-7	breast:
42	chr3:23013201..23015081-chr3:23016891..23018574,2	MCF-7	breast:
43	chr3:22997497..23000412-chr3:23001550..23003702,2	K562	blood:
44	chr3:22771239..22772148-chr3:22928875..22929886,10	MCF-7	breast:
45	chr3:22963977..22966878-chr4:2943742..2946615,2	MCF-7	breast:
46	chr3:22837140..22837804-chr3:22903829..22904564,2	MCF-7	breast:
47	chr3:22975365..22978153-chr3:22981421..22983815,2	MCF-7	breast:
48	chr3:22771239..22772148-chr3:22928875..22929886,10	MCF-7	breast:
49	chr3:22837465..22837989-chr3:22929309..22930132,2	MCF-7	breast:
50	chr3:22605331..22605851-chr3:22928978..22929585,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF385D-4	chr3:22853169-22853538	NONHSAT088659
2	lnc-ZNF385D-4	chr3:22852881-22853115	NONHSAT088659
3	lnc-UBE2E2-5	chr3:22946147-22946642	NONHSAT088660
4	lnc-UBE2E2-5	chr3:22945626-22945773	NONHSAT088660

No data

Variant related genes	Relation type
ENSG00000271235	TF binding region
SALL4P5	TF binding region
RANP7	TF binding region
ENSG00000271235	CpG island
SALL4P5	CpG island
RANP7	CpG island
ENSG00000197885	chromatin interactions
ENSG00000233153	chromatin interactions
ENSG00000174748	chromatin interactions
ENSG00000182247	chromatin interactions

Extended variants
information (count: 7774 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:7774 , 50 per page) page: 1 2 3 4 5 6 7 ... 156

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562228862	chr3:22768838-22768839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527326259	chr3:22768840-22768841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145004561	chr3:22768932-22768933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567569883	chr3:22768945-22768946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544303615	chr3:22768963-22768964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182200812	chr3:22769000-22769001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536252124	chr3:22769027-22769028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556103033	chr3:22769043-22769044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571455800	chr3:22769058-22769059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187136644	chr3:22769074-22769075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558276093	chr3:22769126-22769127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573143408	chr3:22769132-22769133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116575411	chr3:22769141-22769142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149073878	chr3:22769151-22769152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574016062	chr3:22769162-22769163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190054365	chr3:22769186-22769187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562923782	chr3:22769195-22769196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533622136	chr3:22769234-22769235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533476687	chr3:22769264-22769265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544769771	chr3:22769301-22769302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560202692	chr3:22769331-22769332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377737551	chr3:22769343-22769344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182422758	chr3:22769356-22769357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188748102	chr3:22769365-22769366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35375991	chr3:22769372-22769373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561136040	chr3:22769388-22769389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531623052	chr3:22769431-22769432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143131032	chr3:22769471-22769472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17012005	chr3:22769511-22769512	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs538864922	chr3:22769530-22769531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551541590	chr3:22769539-22769540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566626144	chr3:22769559-22769560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533904035	chr3:22769570-22769571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555356360	chr3:22769572-22769573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573730702	chr3:22769592-22769593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538133621	chr3:22769603-22769604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556856787	chr3:22769610-22769611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528262326	chr3:22769612-22769613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192811775	chr3:22769614-22769615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112473760	chr3:22769641-22769642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548496908	chr3:22769665-22769666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17012008	chr3:22769681-22769682	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs375879913	chr3:22769687-22769688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537322588	chr3:22769696-22769697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374000237	chr3:22769698-22769699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148284288	chr3:22769711-22769712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556552772	chr3:22769716-22769717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572190022	chr3:22769725-22769726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542781949	chr3:22769756-22769757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141425799	chr3:22769758-22769759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22768800-22769000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:22769000-22770400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:22769000-22772800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:22770000-22771000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:22770400-22770600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:22770600-22771000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:22770600-22771000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:22770600-22771000	Enhancers	HMEC	breast
9	chr3:22770800-22771400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:22771000-22772000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:22771000-22773000	Weak transcription	HMEC	breast
12	chr3:22771000-22776400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:22771800-22772400	Enhancers	Liver	Liver
14	chr3:22772000-22772200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:22772200-22772600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:22772800-22774200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:22773000-22773800	Enhancers	HMEC	breast
18	chr3:22773400-22773800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:22773800-22774800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:22774200-22775600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:22774800-22775000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:22775400-22776000	Enhancers	Colon Smooth Muscle	Colon
23	chr3:22775600-22776400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:22775600-22777000	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr3:22775800-22776200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr3:22776400-22776600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:22776400-22776600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:22776400-22776600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr3:22776600-22776800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:22784400-22784800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr3:22784400-22785000	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr3:22784400-22785200	Active TSS	H9 Cell Line	embryonic stem cell
33	chr3:22784800-22785200	Active TSS	H1 Cell Line	embryonic stem cell
34	chr3:22784800-22785200	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr3:22784800-22785200	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr3:22784800-22785200	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr3:22784800-22785600	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr3:22785000-22785200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr3:22785000-22785600	Active TSS	A549	lung
40	chr3:22785200-22785600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr3:22785800-22786000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:22786000-22802000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr3:22787800-22788000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr3:22787800-22788200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr3:22788000-22788200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:22788000-22788200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:22788200-22789200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:22789200-22790400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:22789200-22790400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:22789600-22790400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links