Variant report

Variant	esv2763996
Chromosome Location	chr6:26423901-26465384
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:776)
CpG islands
(count:1099)
Chromatin interactive
region (count:50)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:776 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:26440421-26441008	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:26440731-26440735	K562	blood:	n/a	n/a
3	ARID3A	chr6:26457836-26458207	HepG2	liver:	n/a	n/a
4	ATF1	chr6:26457908-26458286	K562	blood:	n/a	n/a
5	ATF1	chr6:26440527-26440834	K562	blood:	n/a	n/a
6	ATF2	chr6:26446081-26446917	GM12878	blood:	n/a	n/a
7	ATF2	chr6:26446043-26446908	GM12878	blood:	n/a	n/a
8	BACH1	chr6:26427881-26427892	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr6:26427660-26427966	K562	blood:	n/a	n/a
10	BATF	chr6:26446083-26446930	GM12878	blood:	n/a	n/a
11	BATF	chr6:26446214-26446536	GM12878	blood:	n/a	n/a
12	BATF	chr6:26446580-26446863	GM12878	blood:	n/a	n/a
13	BCL11A	chr6:26446136-26446582	GM12878	blood:	n/a	n/a
14	BCL11A	chr6:26446237-26446481	GM12878	blood:	n/a	n/a
15	BCL3	chr6:26446139-26446570	GM12878	blood:	n/a	n/a
16	BCLAF1	chr6:26446005-26446607	GM12878	blood:	n/a	n/a
17	BHLHE40	chr6:26432223-26432270	K562	blood:	n/a	n/a
18	BHLHE40	chr6:26458552-26458563	K562	blood:	n/a	n/a
19	BHLHE40	chr6:26446145-26446565	GM12878	blood:	n/a	n/a
20	BHLHE40	chr6:26457911-26458325	GM12878	blood:	n/a	n/a
21	BHLHE40	chr6:26440473-26441150	GM12878	blood:	n/a	n/a
22	BHLHE40	chr6:26440568-26440767	K562	blood:	n/a	n/a
23	BHLHE40	chr6:26457940-26458334	K562	blood:	n/a	n/a
24	BHLHE40	chr6:26457962-26458226	HepG2	liver:	n/a	n/a
25	BRCA1	chr6:26458311-26458434	HepG2	liver:	n/a	n/a
26	BRCA1	chr6:26457937-26458234	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr6:26440558-26440819	Hela-S3	cervix:	n/a	n/a
28	CBX3	chr6:26433888-26434282	K562	blood:	n/a	n/a
29	CBX3	chr6:26433966-26434229	K562	blood:	n/a	n/a
30	CBX3	chr6:26457315-26458711	K562	blood:	n/a	n/a
31	CCNT2	chr6:26438012-26438147	K562	blood:	n/a	n/a
32	CCNT2	chr6:26458339-26458524	K562	blood:	n/a	n/a
33	CEBPB	chr6:26440119-26441091	GM12878	blood:	n/a	chr6:26440696-26440704
34	CEBPB	chr6:26438295-26438597	HepG2	liver:	n/a	chr6:26438430-26438441
35	CEBPB	chr6:26459312-26459525	HepG2	liver:	n/a	chr6:26459425-26459438 chr6:26459426-26459437
36	CEBPB	chr6:26438125-26438588	K562	blood:	n/a	chr6:26438430-26438441
37	CEBPB	chr6:26433120-26433394	IMR90	lung:	n/a	n/a
38	CEBPB	chr6:26432745-26433059	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr6:26437424-26437559	K562	blood:	n/a	chr6:26437482-26437493 chr6:26437481-26437492 chr6:26437483-26437492
40	CEBPB	chr6:26433012-26433365	HepG2	liver:	n/a	n/a
41	CEBPB	chr6:26446124-26446753	GM12878	blood:	n/a	n/a
42	CEBPB	chr6:26440441-26440608	HepG2	liver:	n/a	n/a
43	CEBPB	chr6:26459274-26459575	IMR90	lung:	n/a	chr6:26459425-26459438 chr6:26459426-26459437
44	CEBPB	chr6:26459435-26459456	K562	blood:	n/a	n/a
45	CEBPB	chr6:26437378-26437610	A549	lung:	n/a	chr6:26437482-26437493 chr6:26437481-26437492 chr6:26437483-26437492
46	CEBPB	chr6:26437331-26437604	HepG2	liver:	n/a	chr6:26437482-26437493 chr6:26437481-26437492 chr6:26437483-26437492
47	CEBPB	chr6:26440442-26440755	Hela-S3	cervix:	n/a	chr6:26440696-26440704
48	CEBPB	chr6:26438275-26438595	K562	blood:	n/a	chr6:26438430-26438441
49	CEBPB	chr6:26438406-26438484	IMR90	lung:	n/a	chr6:26438430-26438441
50	CHD1	chr6:26458251-26458394	GM12878	blood:	n/a	n/a

(count:1099 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:26458093-26458143	HIPEpiC	eye:	n/a
2	chr6:26458093-26458143	HIPEpiC	eye:	n/a
3	chr6:26440610-26440660	NHDF-neo	bronchial:	n/a
4	chr6:26456230-26456280	HL-60	blood:	n/a
5	chr6:26458093-26458143	GM19239	blood:	n/a
6	chr6:26446387-26446437	IMR90	lung:	fetal
7	chr6:26458121-26458171	AG04449	skin:	fetal
8	chr6:26440610-26440660	HAEpiC	amniotic membrane:	n/a
9	chr6:26442290-26442340	HEEpiC	esophagus:	n/a
10	chr6:26458013-26458063	IMR90	lung:	fetal
11	chr6:26440101-26440151	NH-A	brain:	n/a
12	chr6:26440340-26440390	AG10803	skin:	n/a
13	chr6:26458189-26458239	T-47D	breast:	n/a
14	chr6:26440610-26440660	AG09319	gingival:	n/a
15	chr6:26457928-26457978	T-47D	breast:	n/a
16	chr6:26458326-26458376	HIPEpiC	eye:	n/a
17	chr6:26458189-26458239	Hela-S3	cervix:	n/a
18	chr6:26459986-26460036	ECC-1	luminal epithelium:	n/a
19	chr6:26440610-26440660	SK-N-SH	brain:	n/a
20	chr6:26459986-26460036	AG04449	skin:	fetal
21	chr6:26456230-26456280	HEEpiC	esophagus:	n/a
22	chr6:26440101-26440151	H1-hESC	embryonic stem cell:	embryo
23	chr6:26459986-26460036	HAEpiC	amniotic membrane:	n/a
24	chr6:26446387-26446437	ProgFib	skin:	n/a
25	chr6:26458093-26458143	HCM	heart:	n/a
26	chr6:26458093-26458143	ECC-1	luminal epithelium:	n/a
27	chr6:26457353-26457403	SKMC	muscle:	n/a
28	chr6:26458213-26458263	GM12878	blood:	n/a
29	chr6:26458489-26458539	SK-N-SH_RA	brain:	n/a
30	chr6:26456230-26456280	PFSK-1	brain:	n/a
31	chr6:26440340-26440390	U87	brain:	n/a
32	chr6:26458326-26458376	Caco-2	colon:	n/a
33	chr6:26458121-26458171	GM06990	blood:	n/a
34	chr6:26440610-26440660	BJ	skin:	n/a
35	chr6:26440340-26440390	BE2_C	brain:	n/a
36	chr6:26458121-26458171	ProgFib	skin:	n/a
37	chr6:26440340-26440390	ProgFib	skin:	n/a
38	chr6:26442290-26442340	HCF	heart:	n/a
39	chr6:26457928-26457978	MCF10A-Er-Src	breast:	n/a
40	chr6:26458213-26458263	MCF-7	breast:	n/a
41	chr6:26446387-26446437	CMK	blood:	n/a
42	chr6:26456230-26456280	SK-N-SH_RA	brain:	n/a
43	chr6:26440340-26440390	NHDF-neo	bronchial:	n/a
44	chr6:26458326-26458376	MCF10A-Er-Src	breast:	n/a
45	chr6:26442290-26442340	AG04450	lung:	fetal
46	chr6:26458489-26458539	NHBE	bronchial:	n/a
47	chr6:26457353-26457403	CMK	blood:	n/a
48	chr6:26440610-26440660	NB4	blood:	n/a
49	chr6:26457353-26457403	AG04449	skin:	fetal
50	chr6:26457928-26457978	AG04449	skin:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr6:26429586..26431412-chr6:26436567..26439801,3	K562	blood:
2	chr6:26449553..26453974-chr6:26454911..26459271,5	K562	blood:
3	chr6:26204619..26206615-chr6:26455801..26457917,2	K562	blood:
4	chr6:26204630..26206245-chr6:26437360..26439322,2	K562	blood:
5	chr6:26410362..26412070-chr6:26433170..26434704,2	K562	blood:
6	chr6:26382632..26385246-chr6:26444412..26446084,2	K562	blood:
7	chr11:62609075..62609632-chr6:26457866..26458649,2	NB4	blood:
8	chr6:26170156..26172522-chr6:26452443..26454404,2	K562	blood:
9	chr6:26435741..26437513-chr6:26437862..26439731,2	MCF-7	breast:
10	chr6:26158283..26160740-chr6:26434619..26436280,2	K562	blood:
11	chr6:26436944..26439158-chr6:26458061..26459676,2	MCF-7	breast:
12	chr6:26194454..26196635-chr6:26433638..26435615,2	K562	blood:
13	chr6:26158231..26160273-chr6:26456660..26458707,2	K562	blood:
14	chr6:26449553..26453974-chr6:26454911..26459271,5	K562	blood:
15	chr6:26419994..26421593-chr6:26434253..26437135,2	K562	blood:
16	chr6:26202174..26206210-chr6:26451824..26455536,3	K562	blood:
17	chr6:26445132..26448422-chr6:26449156..26450907,3	MCF-7	breast:
18	chr6:26424680..26426484-chr6:26492758..26494562,2	K562	blood:
19	chr6:26409830..26412787-chr6:26424238..26427076,2	K562	blood:
20	chr6:26445132..26448422-chr6:26449156..26450907,3	MCF-7	breast:
21	chr6:26432568..26435135-chr6:26469851..26472610,2	K562	blood:
22	chr6:26456959..26459749-chr6:26461329..26463001,2	MCF-7	breast:
23	chr6:26421705..26424532-chr6:26436910..26439772,3	MCF-7	breast:
24	chr6:26436348..26437965-chr6:26445260..26447291,2	K562	blood:
25	chr6:26462941..26465022-chr6:26475685..26477185,2	K562	blood:
26	chr6:26341644..26342483-chr6:26450003..26451206,4	MCF-7	breast:
27	chr6:26440449..26443327-chr6:26444566..26448075,3	K562	blood:
28	chr6:26435741..26437513-chr6:26437862..26439731,2	MCF-7	breast:
29	chr6:26449858..26453821-chr6:26456459..26459528,5	K562	blood:
30	chr6:26422974..26425534-chr6:26428185..26431650,3	K562	blood:
31	chr6:26158606..26161579-chr6:26427700..26429391,2	K562	blood:
32	chr6:26440449..26443327-chr6:26444566..26448075,3	K562	blood:
33	chr6:26420361..26423136-chr6:26455979..26458036,3	MCF-7	breast:
34	chr6:26203411..26206130-chr6:26436411..26439322,2	K562	blood:
35	chr6:26429586..26431412-chr6:26436567..26439801,3	K562	blood:
36	chr6:26447799..26450389-chr6:26451131..26452755,2	K562	blood:
37	chr6:26193865..26195647-chr6:26428067..26430005,2	K562	blood:
38	chr6:26402136..26404045-chr6:26429217..26430789,2	K562	blood:
39	chr6:26441674..26444658-chr6:26456493..26459926,5	K562	blood:
40	chr6:26428903..26431040-chr6:26520601..26522647,2	K562	blood:
41	chr6:26433270..26434795-chr6:26457086..26458602,2	MCF-7	breast:
42	chr6:26284595..26286782-chr6:26439423..26441341,2	K562	blood:
43	chr6:26155432..26157663-chr6:26427016..26429794,2	K562	blood:
44	chr6:26365087..26367638-chr6:26438423..26440461,2	K562	blood:
45	chr6:26424662..26427367-chr6:26444915..26446912,2	K562	blood:
46	chr6:26419843..26421610-chr6:26453709..26456222,2	K562	blood:
47	chr6:26431968..26434782-chr6:26519398..26522131,2	MCF-7	breast:
48	chr6:26408794..26411203-chr6:26449353..26451664,2	K562	blood:
49	chr6:26457960..26461047-chr6:26519488..26522400,3	MCF-7	breast:
50	chr6:26395411..26398038-chr6:26426386..26428479,2	K562	blood:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTN2A1-3	chr6:26440721-26440876	NONHSAT108280
2	lnc-HIST1H4H-4	chr6:26439934-26440114	l_3142_chr6:26432914-26440114_testes
3	lnc-BTN2A1-3	chr6:26443798-26444167	NONHSAT108280
4	lnc-HIST1H4H-4	chr6:26439052-26439291	l_3142_chr6:26432914-26440114_testes
5	lnc-BTN2A1-2	chr6:26450335-26450442	NONHSAT108282
6	lnc-BTN3A1-1	chr6:26426410-26426751	NONHSAT108279
7	lnc-BTN2A1-3	chr6:26440738-26440876	NONHSAT108281
8	lnc-HIST1H4H-4	chr6:26432915-26433370	l_3142_chr6:26432914-26440114_testes
9	lnc-BTN3A1-1	chr6:26428871-26428899	NONHSAT108279
10	lnc-BTN2A1-3	chr6:26443610-26444032	NONHSAT108281
11	lnc-BTN2A1-3	chr6:26443610-26443670	NONHSAT108280
12	lnc-BTN3A3-1	chr6:26439934-26440114	l_3143_chr6:26439933-26448332_testes
13	lnc-BTN2A1-2	chr6:26449465-26449916	NONHSAT108282
14	lnc-HIST1H4H-4	chr6:26437217-26437294	l_3142_chr6:26432914-26440114_testes
15	lnc-BTN3A1-1	chr6:26423780-26423987	NONHSAT108279
16	lnc-BTN3A3-1	chr6:26442281-26442343	l_3143_chr6:26439933-26448332_testes
17	lnc-BTN3A3-1	chr6:26447901-26448486	l_3143_chr6:26439933-26448332_testes

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	BTN3A3	hsa-miR-186-5p	chr6:26452722-26452745

Variant related genes	Relation type
BTN2A1	TF binding region
BTN2A3P	TF binding region
BTN3A3	TF binding region
BTN2A1	CpG island
BTN2A3P	CpG island
BTN3A3	CpG island
ENSG00000158373	chromatin interactions
ENSG00000112763	chromatin interactions
ENSG00000198518	chromatin interactions
ENSG00000215979	chromatin interactions
ENSG00000199289	chromatin interactions
ENSG00000111801	chromatin interactions
ENSG00000124549	chromatin interactions
ENSG00000186470	chromatin interactions
ENSG00000124508	chromatin interactions
ENSG00000026950	chromatin interactions
ENSG00000168298	chromatin interactions
ENSG00000228223	chromatin interactions
ENSG00000216331	chromatin interactions
ENSG00000217275	chromatin interactions
ENSG00000158406	chromatin interactions
ENSG00000133316	chromatin interactions

Extended variants
information (count: 1664 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1664 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201544677	chr6:26423906-26423907	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs546319567	chr6:26423908-26423909	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs139576844	chr6:26423999-26424000	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs202147043	chr6:26424031-26424032	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs386698238	chr6:26424033-26424034	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs111343457	chr6:26424034-26424035	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs5875108	chr6:26424035-26424036	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs66773076	chr6:26424036-26424037	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs75656006	chr6:26424040-26424041	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs376137325	chr6:26424047-26424048	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs2893846	chr6:26424080-26424081	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs145167469	chr6:26424082-26424083	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs7454114	chr6:26424089-26424090	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs568703305	chr6:26424116-26424117	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs534499428	chr6:26424147-26424148	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs554132236	chr6:26424170-26424171	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs56280732	chr6:26424182-26424183	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs572893299	chr6:26424224-26424225	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs540210456	chr6:26424266-26424267	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs149115975	chr6:26424267-26424268	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs376470426	chr6:26424269-26424270	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs576595955	chr6:26424276-26424277	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs377537071	chr6:26424293-26424294	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs544448303	chr6:26424294-26424295	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs554192551	chr6:26424407-26424408	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs56157336	chr6:26424413-26424414	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs373706870	chr6:26424418-26424419	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs189491264	chr6:26424424-26424425	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs12194073	chr6:26424498-26424499	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs560159162	chr6:26424511-26424512	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs547179464	chr6:26424520-26424521	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs12194001	chr6:26424523-26424524	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs562940227	chr6:26424546-26424547	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs551739229	chr6:26424581-26424582	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs375164427	chr6:26424728-26424729	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs7751280	chr6:26424729-26424730	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs531300456	chr6:26424757-26424758	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs181034751	chr6:26424759-26424760	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs537502508	chr6:26424781-26424782	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs374405881	chr6:26424785-26424786	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs187281257	chr6:26424813-26424814	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs534088290	chr6:26424831-26424832	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs372685173	chr6:26424835-26424836	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs560182929	chr6:26424857-26424858	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs7754940	chr6:26424876-26424877	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs7775365	chr6:26424907-26424908	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs539877099	chr6:26424997-26424998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs556575591	chr6:26425072-26425073	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs7755398	chr6:26425086-26425087	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs535953229	chr6:26425101-26425102	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	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
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	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
small cell lung cancer	20016488	CNVD
Williams-beuren syndrome	16971481	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	21569311	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2213 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26422200-26424800	Enhancers	Spleen	Spleen
2	chr6:26422200-26425800	Enhancers	Small Intestine	intestine
3	chr6:26422200-26426400	Weak transcription	Placenta	Placenta
4	chr6:26422200-26428400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:26422200-26439800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:26422400-26426400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:26422400-26431000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:26422400-26432000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:26422400-26439400	Weak transcription	Primary T cells from cord blood	blood
10	chr6:26422400-26439400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:26422400-26439600	Weak transcription	Thymus	Thymus
12	chr6:26422600-26424600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:26422600-26424800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:26422600-26424800	Enhancers	Duodenum Mucosa	Duodenum
15	chr6:26422600-26424800	Enhancers	Esophagus	oesophagus
16	chr6:26422600-26424800	Genic enhancers	Fetal Stomach	stomach
17	chr6:26422600-26425000	Genic enhancers	Fetal Muscle Leg	muscle
18	chr6:26422600-26426000	Enhancers	Adipose Nuclei	Adipose
19	chr6:26422600-26426200	Weak transcription	Liver	Liver
20	chr6:26422600-26426200	Weak transcription	NH-A	brain
21	chr6:26422600-26426400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:26422600-26426600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:26422600-26426600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr6:26422600-26426600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr6:26422600-26426600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr6:26422600-26427000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr6:26422600-26427400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:26422600-26428200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:26422600-26430800	Weak transcription	A549	lung
30	chr6:26422600-26431000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr6:26422600-26431000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr6:26422600-26431000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr6:26422600-26431200	Weak transcription	Fetal Thymus	thymus
34	chr6:26422600-26431400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr6:26422600-26432600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:26422600-26432800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:26422600-26434200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr6:26422600-26434400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr6:26422600-26434600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr6:26422600-26439400	Weak transcription	HMEC	breast
41	chr6:26422600-26439600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr6:26422600-26439800	Weak transcription	Primary B cells from cord blood	blood
43	chr6:26422600-26440000	Weak transcription	Psoas Muscle	Psoas
44	chr6:26422800-26424000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:26422800-26424600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:26422800-26426200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr6:26423000-26424000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:26423000-26424000	Genic enhancers	Stomach Smooth Muscle	stomach
49	chr6:26423000-26424200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:26423000-26424200	Enhancers	Lung	lung

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