Variant report

Variant	esv3411974
Chromosome Location	chr6:167039387-167042335
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr6:167041056-167041381	GM12878	blood:	n/a	n/a
2	ATF2	chr6:167041025-167041424	GM12878	blood:	n/a	n/a
3	BACH1	chr6:167039835-167042182	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCLAF1	chr6:167041029-167041717	GM12878	blood:	n/a	chr6:167041543-167041556 chr6:167041144-167041152 chr6:167041389-167041402 chr6:167041101-167041114 chr6:167041582-167041589 chr6:167041047-167041060
5	BHLHE40	chr6:167040617-167041306	GM12878	blood:	n/a	chr6:167040795-167040811 chr6:167041145-167041161
6	BHLHE40	chr6:167040650-167041533	K562	blood:	n/a	chr6:167040795-167040811 chr6:167041145-167041161 chr6:167041505-167041521
7	BRCA1	chr6:167040157-167040300	H1-hESC	embryonic stem cell:	n/a	n/a
8	BRCA1	chr6:167041101-167041127	HepG2	liver:	n/a	n/a
9	BRCA1	chr6:167041185-167042165	H1-hESC	embryonic stem cell:	n/a	n/a
10	CBX3	chr6:167040659-167041117	K562	blood:	n/a	n/a
11	CCNT2	chr6:167040540-167041740	K562	blood:	n/a	chr6:167041047-167041056
12	CEBPB	chr6:167039647-167040018	IMR90	lung:	n/a	chr6:167039824-167039835
13	CEBPB	chr6:167039761-167039967	HepG2	liver:	n/a	chr6:167039824-167039835
14	CEBPB	chr6:167039650-167039996	H1-hESC	embryonic stem cell:	n/a	chr6:167039824-167039835
15	CEBPB	chr6:167039705-167039968	A549	lung:	n/a	chr6:167039824-167039835
16	CEBPB	chr6:167041786-167042442	IMR90	lung:	n/a	n/a
17	CHD1	chr6:167040136-167040322	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr6:167040943-167041123	HepG2	liver:	n/a	n/a
19	CHD2	chr6:167040730-167041245	K562	blood:	n/a	chr6:167040841-167040851 chr6:167040807-167040817
20	CHD2	chr6:167040642-167041295	GM12878	blood:	n/a	chr6:167040841-167040851 chr6:167040644-167040654 chr6:167040807-167040817
21	CHD2	chr6:167040345-167041473	H1-hESC	embryonic stem cell:	n/a	chr6:167040841-167040851 chr6:167041461-167041468 chr6:167040630-167040640 chr6:167040644-167040654 chr6:167040807-167040817 chr6:167040508-167040518
22	CHD2	chr6:167040888-167041366	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr6:167040105-167040122	H1-hESC	embryonic stem cell:	n/a	n/a
24	CREB1	chr6:167040558-167041671	GM12878	blood:	n/a	n/a
25	CREB1	chr6:167040540-167041258	K562	blood:	n/a	n/a
26	CREB1	chr6:167040560-167041313	H1-hESC	embryonic stem cell:	n/a	n/a
27	CREB1	chr6:167040563-167041277	A549	lung:	n/a	n/a
28	CTBP2	chr6:167041269-167042200	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr6:167040921-167041057	GM19238	blood:	n/a	chr6:167040972-167040985
30	CTCF	chr6:167040900-167041050	HUVEC	blood vessel:	n/a	chr6:167040972-167040985
31	CTCF	chr6:167040340-167040490	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr6:167040898-167041070	GM12892	blood:	n/a	chr6:167040972-167040985 chr6:167041049-167041062
33	CTCF	chr6:167040020-167040170	HCPEpiC	choroid plexus:	n/a	n/a
34	CTCF	chr6:167040440-167040590	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr6:167040920-167041070	GM12871	blood:	n/a	chr6:167040972-167040985 chr6:167041049-167041062
36	CTCF	chr6:167040380-167040530	SAEC	small airway:	n/a	n/a
37	CTCF	chr6:167040860-167041010	NHDF-neo	bronchial:	n/a	chr6:167040972-167040985
38	CTCF	chr6:167040840-167040990	AoAF	blood vessel:	n/a	chr6:167040972-167040985
39	CTCF	chr6:167040880-167041030	WERI-Rb-1	eye:	n/a	chr6:167040972-167040985
40	CTCF	chr6:167040920-167041070	NHEK	skin:	n/a	chr6:167040972-167040985 chr6:167041049-167041062
41	CTCF	chr6:167040924-167041080	GM19239	blood:	n/a	chr6:167040972-167040985 chr6:167041049-167041062
42	CTCF	chr6:167040909-167041231	Spleen_OC	spleen:	n/a	chr6:167040972-167040985 chr6:167041049-167041062
43	CTCF	chr6:167040880-167041030	AG10803	skin:	n/a	chr6:167040972-167040985
44	CTCF	chr6:167040860-167041010	GM12878	blood:	n/a	chr6:167040972-167040985
45	CTCF	chr6:167040900-167041050	GM12865	blood:	n/a	chr6:167040972-167040985
46	CTCF	chr6:167040944-167040999	H1-hESC	embryonic stem cell:	n/a	chr6:167040972-167040985
47	CTCF	chr6:167040940-167041090	GM12871	blood:	n/a	chr6:167040972-167040985 chr6:167041049-167041062
48	CTCF	chr6:167042020-167042170	AG04449	skin:	n/a	n/a
49	CTCF	chr6:167040880-167041030	HEEpiC	esophagus:	n/a	chr6:167040972-167040985
50	CTCF	chr6:167041071-167041077	Lung_OC	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:167041314-167041364	H1-hESC	embryonic stem cell:	embryo
2	chr6:167040675-167040725	HL-60	blood:	n/a
3	chr6:167041314-167041364	H1-hESC	embryonic stem cell:	embryo
4	chr6:167040675-167040725	HL-60	blood:	n/a
5	chr6:167040675-167040725	HCPEpiC	choroid plexus:	n/a
6	chr6:167040675-167040725	RPTEC	kidney:	n/a
7	chr6:167040440-167040490	HCF	heart:	n/a
8	chr6:167041649-167041699	H1-hESC	embryonic stem cell:	embryo
9	chr6:167041314-167041364	HepG2	liver:	n/a
10	chr6:167041530-167041580	GM12878	blood:	n/a
11	chr6:167040925-167040975	HMEC	breast:	n/a
12	chr6:167042138-167042188	K562	blood:	n/a
13	chr6:167041530-167041580	HRCEpiC	kidney:	n/a
14	chr6:167039963-167040013	HAEpiC	amniotic membrane:	n/a
15	chr6:167041314-167041364	HRCEpiC	kidney:	n/a
16	chr6:167042108-167042158	HCF	heart:	n/a
17	chr6:167040954-167041004	SK-N-SH	brain:	n/a
18	chr6:167041940-167041990	ECC-1	luminal epithelium:	n/a
19	chr6:167041314-167041364	BJ	skin:	n/a
20	chr6:167040440-167040490	HNPCEpiC	eye:	n/a
21	chr6:167040925-167040975	HIPEpiC	eye:	n/a
22	chr6:167040925-167040975	ECC-1	luminal epithelium:	n/a
23	chr6:167041314-167041364	AG09319	gingival:	n/a
24	chr6:167041940-167041990	A549	lung:	n/a
25	chr6:167041649-167041699	HCT-116	colon:	n/a
26	chr6:167040954-167041004	Jurkat	blood:	n/a
27	chr6:167040954-167041004	HRE	kidney:	n/a
28	chr6:167041530-167041580	T-47D	breast:	n/a
29	chr6:167040925-167040975	Hela-S3	cervix:	n/a
30	chr6:167040675-167040725	HepG2	liver:	n/a
31	chr6:167040954-167041004	HL-60	blood:	n/a
32	chr6:167042108-167042158	BJ	skin:	n/a
33	chr6:167040440-167040490	A549	lung:	n/a
34	chr6:167041649-167041699	Caco-2	colon:	n/a
35	chr6:167039963-167040013	SAEC	small airway:	n/a
36	chr6:167041314-167041364	Caco-2	colon:	n/a
37	chr6:167040675-167040725	AG09309	skin:	n/a
38	chr6:167040440-167040490	SAEC	small airway:	n/a
39	chr6:167039963-167040013	NT2-D1	testis:	n/a
40	chr6:167041314-167041364	HUVEC	blood vessel:	n/a
41	chr6:167039963-167040013	HRCEpiC	kidney:	n/a
42	chr6:167041314-167041364	K562	blood:	n/a
43	chr6:167040735-167040785	HPAEpiC	pulmonary alveolar:	n/a
44	chr6:167042138-167042188	HPAEpiC	pulmonary alveolar:	n/a
45	chr6:167042108-167042158	ProgFib	skin:	n/a
46	chr6:167040440-167040490	H1-hESC	embryonic stem cell:	embryo
47	chr6:167040925-167040975	PFSK-1	brain:	n/a
48	chr6:167040925-167040975	HCT-116	colon:	n/a
49	chr6:167040925-167040975	HCF	heart:	n/a
50	chr6:167042138-167042188	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167027136..167029744-chr6:167037956..167040696,2	K562	blood:

Variant related genes	Relation type
RPS6KA2	TF binding region
RPS6KA2	CpG island

Extended variants
information (count: 104 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183461763	chr6:167039391-167039392	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs3799566	chr6:167039406-167039407	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs549715126	chr6:167039425-167039426	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533825221	chr6:167039501-167039502	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536313503	chr6:167039504-167039505	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186849302	chr6:167039583-167039584	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76117082	chr6:167039610-167039611	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191286532	chr6:167039651-167039652	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113301607	chr6:167039666-167039667	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111947964	chr6:167039702-167039703	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12196315	chr6:167039766-167039767	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs149985149	chr6:167039781-167039782	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183517486	chr6:167039782-167039783	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573255822	chr6:167039807-167039808	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs537458591	chr6:167039847-167039848	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs555978041	chr6:167039890-167039891	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs577714771	chr6:167039900-167039901	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs545249904	chr6:167039939-167039940	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs560702271	chr6:167039962-167039963	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs572700103	chr6:167039965-167039966	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs543296139	chr6:167039967-167039968	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs143647207	chr6:167039993-167039994	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs74513666	chr6:167040030-167040031	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs531727411	chr6:167040049-167040050	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs77505676	chr6:167040060-167040061	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs79562131	chr6:167040070-167040071	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs556164063	chr6:167040086-167040087	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs532671215	chr6:167040108-167040109	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs9459701	chr6:167040110-167040111	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs541675181	chr6:167040129-167040130	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs556646652	chr6:167040134-167040135	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs372731934	chr6:167040140-167040141	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs187808913	chr6:167040190-167040191	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs145589203	chr6:167040222-167040223	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548827079	chr6:167040224-167040225	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567265110	chr6:167040230-167040231	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537440755	chr6:167040272-167040273	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10946178	chr6:167040311-167040312	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs571239196	chr6:167040349-167040350	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538698285	chr6:167040374-167040375	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553907551	chr6:167040386-167040387	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10946179	chr6:167040463-167040464	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs373161580	chr6:167040475-167040476	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs200753346	chr6:167040476-167040477	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs34877139	chr6:167040490-167040491	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs36109806	chr6:167040493-167040494	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs201386032	chr6:167040495-167040496	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs555296153	chr6:167040514-167040515	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs374368689	chr6:167040525-167040526	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs564182308	chr6:167040553-167040554	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:572 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167032600-167039400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:167034800-167039400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:167034800-167039800	Weak transcription	Spleen	Spleen
4	chr6:167035400-167039400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr6:167036600-167039400	Enhancers	Fetal Heart	heart
6	chr6:167036800-167039600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:167037200-167039400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:167037200-167039400	Weak transcription	Brain Angular Gyrus	brain
9	chr6:167037200-167039400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:167037200-167039600	Weak transcription	Aorta	Aorta
11	chr6:167037200-167039600	Weak transcription	Esophagus	oesophagus
12	chr6:167037200-167039600	Weak transcription	Gastric	stomach
13	chr6:167037200-167039600	Weak transcription	Small Intestine	intestine
14	chr6:167037200-167039800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:167037800-167040000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:167038000-167039600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr6:167038200-167041800	Active TSS	Right Ventricle	heart
18	chr6:167038400-167042200	Active TSS	Psoas Muscle	Psoas
19	chr6:167038600-167039400	Enhancers	Stomach Mucosa	stomach
20	chr6:167038600-167040000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:167038600-167041800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:167038600-167042000	Active TSS	Lung	lung
23	chr6:167038800-167039400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:167038800-167039400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:167038800-167039400	Weak transcription	Pancreas	Pancrea
26	chr6:167038800-167039400	Active TSS	Stomach Smooth Muscle	stomach
27	chr6:167038800-167039400	Flanking Active TSS	NHDF-Ad	bronchial
28	chr6:167038800-167039800	Flanking Active TSS	HMEC	breast
29	chr6:167038800-167039800	Flanking Active TSS	NHEK	skin
30	chr6:167038800-167040000	Flanking Active TSS	Osteobl	bone
31	chr6:167039000-167039400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
32	chr6:167039000-167039400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:167039000-167039400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:167039000-167039400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:167039000-167039400	Active TSS	Brain Anterior Caudate	brain
36	chr6:167039000-167039400	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr6:167039000-167039400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr6:167039000-167039400	Enhancers	Fetal Brain Male	brain
39	chr6:167039000-167039400	Flanking Active TSS	Fetal Brain Female	brain
40	chr6:167039000-167039400	Enhancers	Fetal Kidney	kidney
41	chr6:167039000-167039400	Flanking Active TSS	Fetal Stomach	stomach
42	chr6:167039000-167039400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
43	chr6:167039000-167039600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr6:167039000-167039600	Enhancers	Liver	Liver
45	chr6:167039000-167039800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:167039000-167039800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr6:167039000-167039800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:167039000-167039800	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr6:167039000-167039800	Flanking Active TSS	HUVEC	blood vessel
50	chr6:167039000-167041200	Active TSS	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links