Variant report

Variant	esv3358461
Chromosome Location	chr6:144384284-144386832
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:527)
CpG islands
(count:1466)
Chromatin interactive
region (count:9)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:527 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:144384746-144385107	K562	blood:	n/a	n/a
2	ARID3A	chr6:144385154-144385283	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:144385959-144385966	K562	blood:	n/a	n/a
4	ATF1	chr6:144385120-144385452	K562	blood:	n/a	n/a
5	ATF2	chr6:144385695-144386822	GM12878	blood:	n/a	n/a
6	ATF2	chr6:144384776-144385350	GM12878	blood:	n/a	n/a
7	ATF2	chr6:144384629-144386093	GM12878	blood:	n/a	n/a
8	ATF3	chr6:144385088-144385489	K562	blood:	n/a	chr6:144385285-144385296 chr6:144385180-144385189 chr6:144385252-144385261 chr6:144385284-144385304
9	ATF3	chr6:144385212-144385546	K562	blood:	n/a	chr6:144385285-144385296 chr6:144385252-144385261 chr6:144385527-144385536 chr6:144385284-144385304
10	BACH1	chr6:144384713-144385421	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL3	chr6:144384727-144385571	GM12878	blood:	n/a	chr6:144385502-144385511 chr6:144385548-144385561 chr6:144385543-144385556
12	BCLAF1	chr6:144385670-144386050	GM12878	blood:	n/a	n/a
13	BCLAF1	chr6:144384689-144386509	GM12878	blood:	n/a	chr6:144385502-144385511 chr6:144385548-144385561 chr6:144385543-144385556
14	BCLAF1	chr6:144384977-144385540	K562	blood:	n/a	chr6:144385502-144385511
15	BHLHE40	chr6:144384258-144386016	K562	blood:	n/a	chr6:144385689-144385705
16	BHLHE40	chr6:144385271-144385671	HepG2	liver:	n/a	n/a
17	BHLHE40	chr6:144384162-144386730	GM12878	blood:	n/a	chr6:144385689-144385705
18	BHLHE40	chr6:144384379-144384677	HepG2	liver:	n/a	n/a
19	CBX3	chr6:144384478-144385609	K562	blood:	n/a	n/a
20	CBX3	chr6:144385657-144386255	K562	blood:	n/a	n/a
21	CCNT2	chr6:144384780-144386002	K562	blood:	n/a	chr6:144385180-144385189
22	CEBPB	chr6:144384994-144385330	K562	blood:	n/a	n/a
23	CEBPB	chr6:144384959-144385167	K562	blood:	n/a	n/a
24	CHD1	chr6:144384197-144386703	GM12878	blood:	n/a	chr6:144384944-144384954 chr6:144385541-144385551
25	CHD2	chr6:144385844-144385893	K562	blood:	n/a	n/a
26	CHD2	chr6:144385012-144385384	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr6:144384892-144385476	K562	blood:	n/a	chr6:144384944-144384954
28	CHD2	chr6:144384692-144386602	GM12878	blood:	n/a	chr6:144384944-144384954 chr6:144385541-144385551
29	CHD2	chr6:144385097-144385370	HepG2	liver:	n/a	n/a
30	CREB1	chr6:144384659-144385729	K562	blood:	n/a	n/a
31	CREB1	chr6:144384989-144385562	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr6:144384704-144385685	K562	blood:	n/a	n/a
33	CREB1	chr6:144384844-144385859	HepG2	liver:	n/a	n/a
34	CREB1	chr6:144385001-144385502	ECC-1	luminal epithelium:	n/a	n/a
35	CREB1	chr6:144385065-144385574	H1-hESC	embryonic stem cell:	n/a	n/a
36	CREB1	chr6:144384726-144386614	GM12878	blood:	n/a	n/a
37	CREB1	chr6:144385069-144385528	A549	lung:	n/a	n/a
38	CREB1	chr6:144384887-144385551	HepG2	liver:	n/a	n/a
39	CTCF	chr6:144385129-144385408	Spleen_OC	spleen:	n/a	chr6:144385258-144385274
40	CTCF	chr6:144385160-144385310	WERI-Rb-1	eye:	n/a	chr6:144385258-144385274
41	CTCF	chr6:144385145-144385357	GM13976	blood:	n/a	chr6:144385258-144385274
42	CTCF	chr6:144385220-144385370	GM12869	blood:	n/a	chr6:144385258-144385274
43	CTCF	chr6:144385212-144385336	GM10248	blood:	n/a	chr6:144385258-144385274
44	CTCF	chr6:144385200-144385350	GM12875	blood:	n/a	chr6:144385258-144385274
45	CTCF	chr6:144385162-144385376	A549	lung:	n/a	chr6:144385258-144385274
46	CTCF	chr6:144385200-144385350	AG09319	gingival:	n/a	chr6:144385258-144385274
47	CTCF	chr6:144384880-144385030	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr6:144385180-144385335	MCF-7	breast:	n/a	chr6:144385258-144385274
49	CTCF	chr6:144384848-144385539	GM12878	blood:	n/a	chr6:144385258-144385274
50	CTCF	chr6:144385191-144385352	GM13977	blood:	n/a	chr6:144385258-144385274

(count:1466 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:144386474-144386524	HMEC	breast:	n/a
2	chr6:144386422-144386472	GM19239	blood:	n/a
3	chr6:144386474-144386524	HMEC	breast:	n/a
4	chr6:144386422-144386472	GM19239	blood:	n/a
5	chr6:144386422-144386472	Caco-2	colon:	n/a
6	chr6:144386160-144386210	GM12891	blood:	n/a
7	chr6:144386418-144386468	HRPEpiC	eye:	n/a
8	chr6:144386148-144386198	HRPEpiC	eye:	n/a
9	chr6:144386418-144386468	HCT-116	colon:	n/a
10	chr6:144386515-144386565	ProgFib	skin:	n/a
11	chr6:144385917-144385967	GM19239	blood:	n/a
12	chr6:144386160-144386210	AG09319	gingival:	n/a
13	chr6:144386093-144386143	SK-N-MC	brain:	n/a
14	chr6:144386528-144386578	K562	blood:	n/a
15	chr6:144385771-144385821	RPTEC	kidney:	n/a
16	chr6:144386275-144386325	NHBE	bronchial:	n/a
17	chr6:144386280-144386330	GM12892	blood:	n/a
18	chr6:144386160-144386210	IMR90	lung:	fetal
19	chr6:144385771-144385821	HEK293	kidney:	embryo
20	chr6:144385609-144385659	HCT-116	colon:	n/a
21	chr6:144385672-144385722	GM06990	blood:	n/a
22	chr6:144386457-144386507	PFSK-1	brain:	n/a
23	chr6:144385917-144385967	BJ	skin:	n/a
24	chr6:144385672-144385722	Jurkat	blood:	n/a
25	chr6:144386418-144386468	BJ	skin:	n/a
26	chr6:144385672-144385722	AoSMC	blood vessel:	n/a
27	chr6:144384895-144384945	NT2-D1	testis:	n/a
28	chr6:144386041-144386091	H1-hESC	embryonic stem cell:	embryo
29	chr6:144386422-144386472	NB4	blood:	n/a
30	chr6:144385261-144385311	RPTEC	kidney:	n/a
31	chr6:144386457-144386507	ProgFib	skin:	n/a
32	chr6:144385672-144385722	Hela-S3	cervix:	n/a
33	chr6:144384895-144384945	HEEpiC	esophagus:	n/a
34	chr6:144385893-144385943	ovcar-3	ovarian:	n/a
35	chr6:144386416-144386466	BJ	skin:	n/a
36	chr6:144386041-144386091	GM12892	blood:	n/a
37	chr6:144385917-144385967	PrEC	prostate:	n/a
38	chr6:144386093-144386143	ProgFib	skin:	n/a
39	chr6:144385806-144385856	H1-hESC	embryonic stem cell:	embryo
40	chr6:144386148-144386198	Jurkat	blood:	n/a
41	chr6:144386275-144386325	PFSK-1	brain:	n/a
42	chr6:144386418-144386468	GM12878	blood:	n/a
43	chr6:144385771-144385821	HCM	heart:	n/a
44	chr6:144385806-144385856	GM19239	blood:	n/a
45	chr6:144386275-144386325	H1-hESC	embryonic stem cell:	embryo
46	chr6:144385893-144385943	A549	lung:	n/a
47	chr6:144385672-144385722	AG09319	gingival:	n/a
48	chr6:144386474-144386524	NHBE	bronchial:	n/a
49	chr6:144385917-144385967	NH-A	brain:	n/a
50	chr6:144385609-144385659	LNCaP	prostate:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:143882307..143884065-chr6:144383379..144386197,2	K562	blood:
2	chr6:144382193..144387951-chr6:144413760..144419366,13	K562	blood:
3	chr6:143848305..143850454-chr6:144386141..144388297,2	MCF-7	breast:
4	chr6:144383030..144384886-chr6:144536136..144538729,2	K562	blood:
5	chr6:144386007..144389001-chr6:144539786..144541927,2	MCF-7	breast:
6	chr6:144382541..144385412-chr6:144408158..144411278,3	K562	blood:
7	chr6:144384404..144388265-chr6:144412934..144418087,11	K562	blood:
8	chr6:144384139..144386162-chr6:144415974..144418368,2	MCF-7	breast:
9	chr6:143998295..144000747-chr6:144385501..144387723,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SF3B5-2	chr6:144385589-144385648	NONHSAT115369
2	lnc-SF3B5-2	chr6:144385605-144385677	NONHSAT115372
3	lnc-SF3B5-2	chr6:144385606-144385648	NONHSAT115370
4	lnc-SF3B5-2	chr6:144385606-144385648	NONHSAT115366
5	lnc-SF3B5-2	chr6:144385606-144385648	NONHSAT115367
6	lnc-SF3B5-2	chr6:144385606-144385648	NONHSAT115371

No data

Variant related genes	Relation type
PLAGL1	TF binding region
PLAGL1	CpG island
ENSG00000235740	chromatin interactions
ENSG00000169976	chromatin interactions
ENSG00000112419	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570678909	chr6:144384311-144384312	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs528682690	chr6:144384326-144384327	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs140317053	chr6:144384337-144384338	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs2223498	chr6:144384404-144384405	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs377502636	chr6:144384409-144384410	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs535815916	chr6:144384458-144384459	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557319091	chr6:144384569-144384570	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs569183628	chr6:144384582-144384583	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs539922892	chr6:144384601-144384602	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs552183576	chr6:144384698-144384699	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs185710365	chr6:144384710-144384711	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs370376375	chr6:144384718-144384719	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs573047379	chr6:144384742-144384743	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs540430563	chr6:144384756-144384757	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs555331427	chr6:144384809-144384810	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs573868812	chr6:144384829-144384830	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs57325163	chr6:144384850-144384851	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190671259	chr6:144384852-144384853	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs562489554	chr6:144384921-144384922	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs371092045	chr6:144385001-144385002	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs181438088	chr6:144385060-144385061	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs553302495	chr6:144385075-144385076	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs559821064	chr6:144385077-144385078	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs528624291	chr6:144385167-144385168	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs547164451	chr6:144385232-144385233	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs76241071	chr6:144385247-144385248	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs529567619	chr6:144385301-144385302	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs551022661	chr6:144385327-144385328	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs569238303	chr6:144385337-144385338	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs386706602	chr6:144385353-144385354	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs539860783	chr6:144385356-144385357	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs551853134	chr6:144385487-144385488	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs566978670	chr6:144385512-144385513	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs377086384	chr6:144385513-144385514	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs576369999	chr6:144385533-144385534	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs555534029	chr6:144385534-144385535	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs577741779	chr6:144385560-144385561	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs573789329	chr6:144385616-144385617	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs3734225	chr6:144385624-144385625	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs556207078	chr6:144385677-144385678	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs13194924	chr6:144385691-144385692	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs542102544	chr6:144385701-144385702	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs544616689	chr6:144385742-144385743	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs559759990	chr6:144385769-144385770	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs149110519	chr6:144385777-144385778	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs114051183	chr6:144385812-144385813	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs562290957	chr6:144385984-144385985	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs145807263	chr6:144386007-144386008	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs551225289	chr6:144386017-144386018	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs563177397	chr6:144386147-144386148	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Autism	21448237	CNVD
Autism	22495311	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
lymphocytic leukemia	21291569	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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian cancer	22174824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144375800-144384600	Weak transcription	Gastric	stomach
2	chr6:144383600-144384400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:144383600-144384400	Enhancers	Brain Substantia Nigra	brain
4	chr6:144383600-144387000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr6:144383800-144384400	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr6:144383800-144384400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr6:144383800-144384400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr6:144383800-144384400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:144383800-144384400	Enhancers	Brain Anterior Caudate	brain
10	chr6:144383800-144384400	Bivalent Enhancer	HepG2	liver
11	chr6:144383800-144384600	Flanking Active TSS	GM12878-XiMat	blood
12	chr6:144383800-144385000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr6:144383800-144385000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:144383800-144385000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:144383800-144385200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr6:144384000-144384400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
17	chr6:144384000-144384400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:144384000-144384400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr6:144384000-144384400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:144384000-144384400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:144384000-144384400	Enhancers	Brain Cingulate Gyrus	brain
22	chr6:144384000-144384400	Bivalent Enhancer	Brain Germinal Matrix	brain
23	chr6:144384000-144384400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr6:144384000-144384400	Bivalent Enhancer	Fetal Intestine Small	intestine
25	chr6:144384000-144384600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:144384000-144384600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr6:144384000-144384800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr6:144384000-144384800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr6:144384000-144384800	Flanking Active TSS	Thymus	Thymus
30	chr6:144384000-144384800	Flanking Active TSS	K562	blood
31	chr6:144384000-144385000	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr6:144384200-144384400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
33	chr6:144384200-144384400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:144384200-144384400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:144384200-144384400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:144384200-144384400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr6:144384200-144384400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
38	chr6:144384200-144384400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
39	chr6:144384200-144384400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr6:144384200-144384400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr6:144384200-144384400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:144384200-144384400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:144384200-144384400	Enhancers	Liver	Liver
44	chr6:144384200-144384400	Bivalent Enhancer	Brain Angular Gyrus	brain
45	chr6:144384200-144384400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:144384200-144384400	Enhancers	Colon Smooth Muscle	Colon
47	chr6:144384200-144384400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
48	chr6:144384200-144384400	Bivalent Enhancer	Fetal Intestine Large	intestine
49	chr6:144384200-144384400	Flanking Active TSS	Fetal Thymus	thymus
50	chr6:144384200-144384400	Enhancers	Pancreas	Pancrea

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