Variant report

Variant	nsv970101
Chromosome Location	chr6:29692268-29695615
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:106)
CpG islands
(count:977)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:106 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr6:29695164-29695172	GM12878	blood:	n/a	n/a
2	CHD1	chr6:29690782-29692311	GM12878	blood:	n/a	n/a
3	CHD2	chr6:29695140-29695151	GM12878	blood:	n/a	n/a
4	CHD2	chr6:29693592-29693757	GM12878	blood:	n/a	n/a
5	CTCF	chr6:29693120-29693270	GM12866	blood:	n/a	n/a
6	CUX1	chr6:29692636-29692665	GM12878	blood:	n/a	n/a
7	E2F6	chr6:29691795-29692282	H1-hESC	embryonic stem cell:	n/a	n/a
8	EBF1	chr6:29693388-29693660	GM12878	blood:	n/a	n/a
9	EBF1	chr6:29692581-29692813	GM12878	blood:	n/a	n/a
10	EBF1	chr6:29695455-29695458	GM12878	blood:	n/a	n/a
11	IRF4	chr6:29692836-29693156	GM12878	blood:	n/a	n/a
12	MAZ	chr6:29694071-29694164	GM12878	blood:	n/a	n/a
13	MAZ	chr6:29693174-29693189	GM12878	blood:	n/a	n/a
14	MAZ	chr6:29692652-29692745	GM12878	blood:	n/a	n/a
15	MTA3	chr6:29695276-29699589	GM12878	blood:	n/a	n/a
16	MTA3	chr6:29690560-29692415	GM12878	blood:	n/a	n/a
17	MXI1	chr6:29694477-29694524	GM12878	blood:	n/a	n/a
18	MXI1	chr6:29691644-29692277	GM12878	blood:	n/a	n/a
19	MXI1	chr6:29692811-29692927	GM12878	blood:	n/a	n/a
20	PAX5	chr6:29692650-29692980	GM12878	blood:	n/a	n/a
21	PML	chr6:29693466-29694296	GM12878	blood:	n/a	n/a
22	PML	chr6:29695415-29699000	GM12878	blood:	n/a	n/a
23	PML	chr6:29694298-29695095	GM12878	blood:	n/a	n/a
24	POLR2A	chr6:29694992-29695082	K562	blood:	n/a	n/a
25	POLR2A	chr6:29690658-29699867	GM12891	blood:	n/a	n/a
26	POLR2A	chr6:29693923-29693931	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:29695365-29699302	GM18526	blood:	n/a	n/a
28	POLR2A	chr6:29692445-29694967	GM12892	blood:	n/a	n/a
29	POLR2A	chr6:29693765-29694049	GM12878	blood:	n/a	n/a
30	POLR2A	chr6:29693002-29693088	K562	blood:	n/a	n/a
31	POLR2A	chr6:29692521-29693639	GM12878	blood:	n/a	n/a
32	POLR2A	chr6:29695149-29697426	GM12891	blood:	n/a	n/a
33	POLR2A	chr6:29693745-29694122	GM12878	blood:	n/a	n/a
34	POLR2A	chr6:29695318-29697307	GM12878	blood:	n/a	n/a
35	POLR2A	chr6:29693735-29693909	GM12878	blood:	n/a	n/a
36	POLR2A	chr6:29695427-29697285	GM15510	blood:	n/a	n/a
37	POLR2A	chr6:29690708-29699614	GM18505	blood:	n/a	n/a
38	POLR2A	chr6:29690692-29694256	GM12892	blood:	n/a	n/a
39	POLR2A	chr6:29690735-29692912	GM15510	blood:	n/a	n/a
40	POLR2A	chr6:29694339-29694927	GM12891	blood:	n/a	n/a
41	POLR2A	chr6:29694710-29694903	GM12878	blood:	n/a	n/a
42	POLR2A	chr6:29690681-29699847	GM12878	blood:	n/a	n/a
43	POLR2A	chr6:29695198-29698947	GM12891	blood:	n/a	n/a
44	POLR2A	chr6:29690680-29694233	GM12891	blood:	n/a	n/a
45	POLR2A	chr6:29695318-29696429	GM12878	blood:	n/a	n/a
46	POLR2A	chr6:29695079-29697466	GM12892	blood:	n/a	n/a
47	POLR2A	chr6:29695270-29699448	GM18951	blood:	n/a	n/a
48	POLR2A	chr6:29690575-29695009	GM12878	blood:	n/a	n/a
49	POLR2A	chr6:29692600-29693676	GM12891	blood:	n/a	n/a
50	POLR2A	chr6:29690758-29693733	GM12878	blood:	n/a	n/a

(count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29692399-29692449	GM06990	blood:	n/a
2	chr6:29692399-29692449	GM06990	blood:	n/a
3	chr6:29695413-29695463	GM12891	blood:	n/a
4	chr6:29693534-29693584	HRE	kidney:	n/a
5	chr6:29692475-29692525	HNPCEpiC	eye:	n/a
6	chr6:29694676-29694726	HCF	heart:	n/a
7	chr6:29693534-29693584	RPTEC	kidney:	n/a
8	chr6:29694484-29694534	HCF	heart:	n/a
9	chr6:29692475-29692525	Hepatocyte	liver:	n/a
10	chr6:29692399-29692449	PFSK-1	brain:	n/a
11	chr6:29692995-29693045	Hepatocyte	liver:	n/a
12	chr6:29692399-29692449	CMK	blood:	n/a
13	chr6:29694676-29694726	Hela-S3	cervix:	n/a
14	chr6:29692995-29693045	PFSK-1	brain:	n/a
15	chr6:29694860-29694910	BJ	skin:	n/a
16	chr6:29692365-29692415	HCF	heart:	n/a
17	chr6:29695590-29695640	GM19239	blood:	n/a
18	chr6:29694484-29694534	AG04450	lung:	fetal
19	chr6:29694860-29694910	GM19239	blood:	n/a
20	chr6:29692824-29692874	NB4	blood:	n/a
21	chr6:29695164-29695214	BE2_C	brain:	n/a
22	chr6:29693309-29693359	Hela-S3	cervix:	n/a
23	chr6:29692475-29692525	CMK	blood:	n/a
24	chr6:29692399-29692449	HCPEpiC	choroid plexus:	n/a
25	chr6:29694860-29694910	NT2-D1	testis:	n/a
26	chr6:29694676-29694726	GM12892	blood:	n/a
27	chr6:29695164-29695214	PFSK-1	brain:	n/a
28	chr6:29692824-29692874	MCF10A-Er-Src	breast:	n/a
29	chr6:29694676-29694726	AG09319	gingival:	n/a
30	chr6:29692824-29692874	T-47D	breast:	n/a
31	chr6:29692582-29692632	AG04450	lung:	fetal
32	chr6:29695590-29695640	HRCEpiC	kidney:	n/a
33	chr6:29692582-29692632	GM12891	blood:	n/a
34	chr6:29695413-29695463	PFSK-1	brain:	n/a
35	chr6:29692281-29692331	HIPEpiC	eye:	n/a
36	chr6:29695590-29695640	T-47D	breast:	n/a
37	chr6:29693534-29693584	AG10803	skin:	n/a
38	chr6:29694860-29694910	SKMC	muscle:	n/a
39	chr6:29692824-29692874	HCM	heart:	n/a
40	chr6:29694484-29694534	SKMC	muscle:	n/a
41	chr6:29694676-29694726	HUVEC	blood vessel:	n/a
42	chr6:29692582-29692632	HCM	heart:	n/a
43	chr6:29692281-29692331	HUVEC	blood vessel:	n/a
44	chr6:29692475-29692525	H1-hESC	embryonic stem cell:	embryo
45	chr6:29692281-29692331	HEEpiC	esophagus:	n/a
46	chr6:29693309-29693359	SAEC	small airway:	n/a
47	chr6:29692475-29692525	IMR90	lung:	fetal
48	chr6:29692995-29693045	NHBE	bronchial:	n/a
49	chr6:29693309-29693359	GM06990	blood:	n/a
50	chr6:29693534-29693584	AoSMC	blood vessel:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:29691971..29693668-chr6:29693958..29696725,2	K562	blood:
2	chr6:29689319..29693460-chr6:29694038..29698697,5	MCF-7	breast:
3	chr6:29689852..29692667-chr6:31324164..31326641,2	K562	blood:
4	chr6:29673901..29676614-chr6:29690934..29692528,2	MCF-7	breast:
5	chr6:29691971..29693668-chr6:29693958..29696725,2	K562	blood:
6	chr6:29692276..29694420-chr6:29705513..29707651,2	MCF-7	breast:
7	chr6:29689319..29693460-chr6:29694038..29698697,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MOG-2	chr6:29693231-29693340	NONHSAT108542

No data

Variant related genes	Relation type
HLA-F	TF binding region
HCG4P11	TF binding region
RPL23AP1	TF binding region
HLA-F	CpG island
HCG4P11	CpG island
RPL23AP1	CpG island
ENSG00000233916	chromatin interactions
ENSG00000214922	chromatin interactions
ENSG00000204642	chromatin interactions
ENSG00000239257	chromatin interactions
ENSG00000271581	chromatin interactions
ENSG00000234745	chromatin interactions
ENSG00000225864	chromatin interactions

Extended variants
information (count: 157 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372809308	chr6:29692272-29692273	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs537392732	chr6:29692293-29692294	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs577547188	chr6:29692308-29692309	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs569795238	chr6:29692324-29692325	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs535723133	chr6:29692329-29692330	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs553126385	chr6:29692340-29692341	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs572387597	chr6:29692343-29692344	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs534575062	chr6:29692433-29692434	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	7 gene(s)	Overlapped CNVs	n/a
9	rs376993373	chr6:29692441-29692442	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	7 gene(s)	Overlapped CNVs	n/a
10	rs142275427	chr6:29692463-29692464	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	7 gene(s)	Overlapped CNVs	n/a
11	rs376780848	chr6:29692465-29692466	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	7 gene(s)	Overlapped CNVs	n/a
12	rs563176182	chr6:29692470-29692471	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	7 gene(s)	Overlapped CNVs	n/a
13	rs149635887	chr6:29692537-29692538	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
14	rs193250743	chr6:29692553-29692554	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:272 , 50 per page) page: 1 2 3 4 5 6

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	chr6:29690600-29692400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr6:29690600-29692400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:29690600-29692400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr6:29690600-29692400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:29690600-29692400	Active TSS	Ovary	ovary
8	chr6:29690600-29692600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:29690600-29692600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:29690600-29692600	Active TSS	Brain Hippocampus Middle	brain
11	chr6:29690600-29692600	Active TSS	Right Atrium	heart
12	chr6:29690600-29693000	Active TSS	Rectal Smooth Muscle	rectum
13	chr6:29690600-29693000	Active TSS	Small Intestine	intestine
14	chr6:29690600-29694200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:29690800-29692400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr6:29690800-29692400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
17	chr6:29690800-29692400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr6:29690800-29692400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
19	chr6:29690800-29692400	Bivalent/Poised TSS	Fetal Thymus	thymus
20	chr6:29690800-29692600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
21	chr6:29691000-29692400	Bivalent/Poised TSS	Fetal Lung	lung
22	chr6:29691000-29692600	Bivalent/Poised TSS	Psoas Muscle	Psoas
23	chr6:29691200-29692400	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr6:29691200-29692400	Flanking Active TSS	Pancreas	Pancrea
25	chr6:29691200-29694000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
26	chr6:29691200-29695000	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
27	chr6:29691200-29695400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
28	chr6:29691400-29692400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:29691400-29694000	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
30	chr6:29691400-29694200	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
31	chr6:29691400-29694200	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:29691600-29692400	Active TSS	Osteobl	bone
33	chr6:29691600-29694000	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
34	chr6:29691800-29692400	Bivalent Enhancer	Fetal Heart	heart
35	chr6:29691800-29692400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
36	chr6:29692000-29692400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:29692000-29692400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
38	chr6:29692000-29692400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
39	chr6:29692000-29692400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:29692000-29692400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:29692000-29692400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:29692000-29692400	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr6:29692000-29692400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:29692000-29692400	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr6:29692000-29692400	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr6:29692000-29692400	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr6:29692000-29692400	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr6:29692000-29692400	Flanking Bivalent TSS/Enh	Placenta	Placenta
49	chr6:29692000-29692400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
50	chr6:29692000-29692400	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle

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