Variant report

Variant	nsv883531
Chromosome Location	chr6:29692562-29705402
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	ATF1	chr6:29697837-29697982	K562	blood:	n/a	n/a
2	ATF2	chr6:29697444-29698318	GM12878	blood:	n/a	n/a
3	BCL3	chr6:29698061-29698403	GM12878	blood:	n/a	n/a
4	BCLAF1	chr6:29697493-29698069	GM12878	blood:	n/a	n/a
5	BCLAF1	chr6:29695785-29696868	GM12878	blood:	n/a	n/a
6	BCLAF1	chr6:29696998-29698204	GM12878	blood:	n/a	n/a
7	BHLHE40	chr6:29695164-29695172	GM12878	blood:	n/a	n/a
8	CEBPB	chr6:29699213-29699309	HepG2	liver:	n/a	n/a
9	CEBPB	chr6:29702405-29702665	HepG2	liver:	n/a	chr6:29702548-29702559
10	CEBPB	chr6:29702451-29702659	A549	lung:	n/a	chr6:29702548-29702559
11	CHD2	chr6:29697653-29697975	GM12878	blood:	n/a	n/a
12	CHD2	chr6:29693592-29693757	GM12878	blood:	n/a	n/a
13	CHD2	chr6:29695140-29695151	GM12878	blood:	n/a	n/a
14	CTCF	chr6:29697921-29697995	Pancreas_OC	pancreas:	n/a	n/a
15	CTCF	chr6:29697796-29698059	K562	blood:	n/a	n/a
16	CTCF	chr6:29697760-29697910	NHDF-neo	bronchial:	n/a	n/a
17	CTCF	chr6:29699107-29699126	GM13976	blood:	n/a	n/a
18	CTCF	chr6:29697780-29697930	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr6:29695860-29696010	GM12869	blood:	n/a	n/a
20	CTCF	chr6:29693120-29693270	GM12866	blood:	n/a	n/a
21	CTCF	chr6:29697840-29697990	HMF	breast:	n/a	n/a
22	CTCF	chr6:29697895-29697958	MCF-7	breast:	n/a	n/a
23	CTCF	chr6:29697868-29697972	K562	blood:	n/a	n/a
24	CTCF	chr6:29697866-29697973	MCF-7	breast:	n/a	n/a
25	CUX1	chr6:29692636-29692665	GM12878	blood:	n/a	n/a
26	E2F4	chr6:29701931-29702159	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr6:29705379-29705535	MCF10A-Er-Src	breast:	n/a	n/a
28	EBF1	chr6:29695455-29695458	GM12878	blood:	n/a	n/a
29	EBF1	chr6:29692581-29692813	GM12878	blood:	n/a	n/a
30	EBF1	chr6:29702482-29702721	GM12878	blood:	n/a	n/a
31	EBF1	chr6:29693388-29693660	GM12878	blood:	n/a	n/a
32	ELK1	chr6:29697729-29697884	GM12878	blood:	n/a	n/a
33	FOS	chr6:29701365-29702330	MCF10A-Er-Src	breast:	n/a	chr6:29701979-29701991 chr6:29701541-29701549 chr6:29701542-29701553 chr6:29701541-29701550 chr6:29701823-29701834 chr6:29701541-29701548 chr6:29701539-29701551 chr6:29702103-29702112 chr6:29701981-29701989 chr6:29701980-29701990
34	FOS	chr6:29701376-29702330	MCF10A-Er-Src	breast:	n/a	chr6:29701979-29701991 chr6:29701541-29701549 chr6:29701542-29701553 chr6:29701541-29701550 chr6:29701823-29701834 chr6:29701541-29701548 chr6:29701539-29701551 chr6:29702103-29702112 chr6:29701981-29701989 chr6:29701980-29701990
35	FOS	chr6:29701376-29702350	MCF10A-Er-Src	breast:	n/a	chr6:29701979-29701991 chr6:29701541-29701549 chr6:29701542-29701553 chr6:29701541-29701550 chr6:29701823-29701834 chr6:29701541-29701548 chr6:29701539-29701551 chr6:29702103-29702112 chr6:29701981-29701989 chr6:29701980-29701990
36	FOS	chr6:29701376-29702337	MCF10A-Er-Src	breast:	n/a	chr6:29701979-29701991 chr6:29701541-29701549 chr6:29701542-29701553 chr6:29701541-29701550 chr6:29701823-29701834 chr6:29701541-29701548 chr6:29701539-29701551 chr6:29702103-29702112 chr6:29701981-29701989 chr6:29701980-29701990
37	FOS	chr6:29703892-29704063	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr6:29703868-29704129	MCF10A-Er-Src	breast:	n/a	n/a
39	IRF4	chr6:29692836-29693156	GM12878	blood:	n/a	n/a
40	JUN	chr6:29701404-29701623	HepG2	liver:	n/a	chr6:29701541-29701549 chr6:29701542-29701553 chr6:29701541-29701550 chr6:29701541-29701548 chr6:29701539-29701551
41	JUND	chr6:29701370-29701650	HepG2	liver:	n/a	chr6:29701541-29701549 chr6:29701542-29701553 chr6:29701541-29701550 chr6:29701541-29701548 chr6:29701539-29701550 chr6:29701539-29701551
42	MAFK	chr6:29696408-29696448	HepG2	liver:	n/a	n/a
43	MAX	chr6:29698715-29698739	GM12878	blood:	n/a	n/a
44	MAZ	chr6:29693174-29693189	GM12878	blood:	n/a	n/a
45	MAZ	chr6:29692652-29692745	GM12878	blood:	n/a	n/a
46	MAZ	chr6:29698168-29698313	GM12878	blood:	n/a	n/a
47	MAZ	chr6:29694071-29694164	GM12878	blood:	n/a	n/a
48	MAZ	chr6:29696977-29697030	GM12878	blood:	n/a	n/a
49	MTA3	chr6:29696073-29696518	GM12878	blood:	n/a	n/a
50	MTA3	chr6:29697513-29698463	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29693534-29693584	LNCaP	prostate:	n/a
2	chr6:29693534-29693584	HCM	heart:	n/a
3	chr6:29694860-29694910	HL-60	blood:	n/a
4	chr6:29693534-29693584	LNCaP	prostate:	n/a
5	chr6:29693534-29693584	HCM	heart:	n/a
6	chr6:29694860-29694910	HL-60	blood:	n/a
7	chr6:29695590-29695640	HCT-116	colon:	n/a
8	chr6:29699406-29699456	HAEpiC	amniotic membrane:	n/a
9	chr6:29693309-29693359	GM06990	blood:	n/a
10	chr6:29693309-29693359	AG04450	lung:	fetal
11	chr6:29695413-29695463	GM19239	blood:	n/a
12	chr6:29696647-29696697	ProgFib	skin:	n/a
13	chr6:29697938-29697988	HepG2	liver:	n/a
14	chr6:29704545-29704595	NT2-D1	testis:	n/a
15	chr6:29702053-29702103	PrEC	prostate:	n/a
16	chr6:29698405-29698455	MCF-7	breast:	n/a
17	chr6:29697700-29697750	HRE	kidney:	n/a
18	chr6:29696647-29696697	CMK	blood:	n/a
19	chr6:29700035-29700085	HCPEpiC	choroid plexus:	n/a
20	chr6:29694860-29694910	LNCaP	prostate:	n/a
21	chr6:29692995-29693045	Jurkat	blood:	n/a
22	chr6:29700035-29700085	AG04449	skin:	fetal
23	chr6:29695590-29695640	HRPEpiC	eye:	n/a
24	chr6:29694676-29694726	BJ	skin:	n/a
25	chr6:29698866-29698916	IMR90	lung:	fetal
26	chr6:29697938-29697988	SK-N-MC	brain:	n/a
27	chr6:29697938-29697988	AG10803	skin:	n/a
28	chr6:29694484-29694534	ovcar-3	ovarian:	n/a
29	chr6:29697949-29697999	SK-N-SH_RA	brain:	n/a
30	chr6:29698405-29698455	AG10803	skin:	n/a
31	chr6:29696650-29696700	Hela-S3	cervix:	n/a
32	chr6:29698284-29698334	BE2_C	brain:	n/a
33	chr6:29702509-29702559	AoSMC	blood vessel:	n/a
34	chr6:29695164-29695214	GM12892	blood:	n/a
35	chr6:29696650-29696700	SK-N-SH_RA	brain:	n/a
36	chr6:29692582-29692632	PANC-1	pancreas:	n/a
37	chr6:29698405-29698455	SK-N-SH_RA	brain:	n/a
38	chr6:29702053-29702103	ECC-1	luminal epithelium:	n/a
39	chr6:29694484-29694534	HCM	heart:	n/a
40	chr6:29702509-29702559	GM12878	blood:	n/a
41	chr6:29704545-29704595	LNCaP	prostate:	n/a
42	chr6:29697897-29697947	HCPEpiC	choroid plexus:	n/a
43	chr6:29692582-29692632	GM06990	blood:	n/a
44	chr6:29696264-29696314	NB4	blood:	n/a
45	chr6:29700690-29700740	HMEC	breast:	n/a
46	chr6:29704545-29704595	NHBE	bronchial:	n/a
47	chr6:29694676-29694726	HCT-116	colon:	n/a
48	chr6:29696647-29696697	PFSK-1	brain:	n/a
49	chr6:29697938-29697988	HCM	heart:	n/a
50	chr6:29694676-29694726	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:29689319..29693460-chr6:29694038..29698697,5	MCF-7	breast:
2	chr6:29691971..29693668-chr6:29693958..29696725,2	K562	blood:
3	chr6:29689319..29693460-chr6:29694038..29698697,5	MCF-7	breast:
4	chr6:29686730..29689127-chr6:29696614..29698519,2	K562	blood:
5	chr6:29702012..29703555-chr6:29719487..29721197,2	K562	blood:
6	chr6:29702235..29703896-chr6:29705917..29708900,2	K562	blood:
7	chr6:29691971..29693668-chr6:29693958..29696725,2	K562	blood:
8	chr6:29692276..29694420-chr6:29705513..29707651,2	MCF-7	breast:
9	chr6:29692291..29694908-chr6:29698271..29700498,2	K562	blood:
10	chr6:29689852..29692667-chr6:31324164..31326641,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HLA-F-2	chr6:29704793-29705231	NONHSAT108546
2	lnc-MOG-2	chr6:29695734-29697128	NONHSAT108542
3	lnc-ZFP57-7	chr6:29702805-29704597	ENSG00000214922.3
4	lnc-MOG-2	chr6:29693231-29693340	NONHSAT108542

Variant related genes	Relation type
HLA-F	TF binding region
RPL23AP1	TF binding region
HCG4P11	TF binding region
HLA-F	CpG island
RPL23AP1	CpG island
HCG4P11	CpG island
ENSG00000204642	chromatin interactions
ENSG00000214922	chromatin interactions
ENSG00000271581	chromatin interactions
ENSG00000239257	chromatin interactions
ENSG00000234745	chromatin interactions
ENSG00000272236	chromatin interactions
ENSG00000225864	chromatin interactions

Extended variants
information (count: 523 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:523 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376564174	chr6:29692569-29692570	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs185332285	chr6:29692576-29692577	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs369348039	chr6:29692583-29692584	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs542033044	chr6:29692611-29692612	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs144376525	chr6:29692618-29692619	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs386698421	chr6:29692623-29692624	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs190090790	chr6:29692638-29692639	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs569852307	chr6:29692711-29692712	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs181298082	chr6:29692737-29692738	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs201295302	chr6:29692774-29692775	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs148381221	chr6:29692798-29692799	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs368235681	chr6:29692799-29692800	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs142311857	chr6:29692810-29692811	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs199770957	chr6:29692819-29692820	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs376099110	chr6:29692830-29692831	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs565837783	chr6:29692832-29692833	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs113894357	chr6:29692836-29692837	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs369301230	chr6:29692844-29692845	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs372957735	chr6:29692893-29692894	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs556745393	chr6:29692897-29692898	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs78154236	chr6:29692907-29692908	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs541971824	chr6:29692916-29692917	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs139864415	chr6:29692934-29692935	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs369751910	chr6:29692935-29692936	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs201806950	chr6:29692963-29692964	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs371146545	chr6:29692971-29692972	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs530108558	chr6:29692991-29692992	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs373357796	chr6:29692994-29692995	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs376504397	chr6:29692997-29692998	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs201844059	chr6:29693019-29693020	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs377103866	chr6:29693033-29693034	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs370537651	chr6:29693034-29693035	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs374197706	chr6:29693049-29693050	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs556700196	chr6:29693053-29693054	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs111642348	chr6:29693084-29693085	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs112902856	chr6:29693085-29693086	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs200582779	chr6:29693105-29693106	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs199501553	chr6:29693114-29693115	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs563745934	chr6:29693117-29693118	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs376059707	chr6:29693118-29693119	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs368642976	chr6:29693124-29693125	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs529412485	chr6:29693134-29693135	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs549160665	chr6:29693147-29693148	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs186412010	chr6:29693149-29693150	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs372380683	chr6:29693175-29693176	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs367892074	chr6:29693186-29693187	Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs73745582	chr6:29693205-29693206	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs188224595	chr6:29693226-29693227	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs57237143	chr6:29693233-29693234	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs376223760	chr6:29693301-29693302	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29690400-29692600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr6:29690400-29692800	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr6:29690600-29692600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:29690600-29692600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:29690600-29692600	Active TSS	Brain Hippocampus Middle	brain
6	chr6:29690600-29692600	Active TSS	Right Atrium	heart
7	chr6:29690600-29693000	Active TSS	Rectal Smooth Muscle	rectum
8	chr6:29690600-29693000	Active TSS	Small Intestine	intestine
9	chr6:29690600-29694200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:29690800-29692600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
11	chr6:29691000-29692600	Bivalent/Poised TSS	Psoas Muscle	Psoas
12	chr6:29691200-29694000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
13	chr6:29691200-29695000	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
14	chr6:29691200-29695400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
15	chr6:29691400-29694000	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
16	chr6:29691400-29694200	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:29691400-29694200	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:29691600-29694000	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
19	chr6:29692000-29692600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr6:29692000-29692600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:29692000-29692600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr6:29692000-29692600	Flanking Active TSS	Esophagus	oesophagus
23	chr6:29692000-29692600	Flanking Active TSS	Left Ventricle	heart
24	chr6:29692000-29692600	Transcr. at gene 5' and 3'	Spleen	Spleen
25	chr6:29692000-29692800	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr6:29692000-29693400	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
27	chr6:29692000-29693400	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
28	chr6:29692000-29694000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
29	chr6:29692000-29694000	Transcr. at gene 5' and 3'	Sigmoid Colon	Sigmoid Colon
30	chr6:29692000-29694200	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
31	chr6:29692000-29694200	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
32	chr6:29692000-29694200	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
33	chr6:29692000-29694200	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
34	chr6:29692000-29694400	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:29692000-29695000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
36	chr6:29692200-29692600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:29692200-29692600	Flanking Active TSS	Liver	Liver
38	chr6:29692200-29692800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:29692200-29692800	Transcr. at gene 5' and 3'	Right Ventricle	heart
40	chr6:29692200-29693000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:29692200-29693400	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
42	chr6:29692200-29694000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
43	chr6:29692200-29694000	Transcr. at gene 5' and 3'	Lung	lung
44	chr6:29692200-29694000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
45	chr6:29692200-29694200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
46	chr6:29692200-29694600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
47	chr6:29692200-29701800	Weak transcription	HMEC	breast
48	chr6:29692200-29715800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:29692400-29692600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:29692400-29692600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links