Variant report

Variant	nsv1021506
Chromosome Location	chr6:53600338-53770482
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1385)
CpG islands
(count:1526)
Chromatin interactive
region (count:98)
LncRNA
region (count:34)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1385 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:53719287-53720111	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:53657660-53658639	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:53659058-53659861	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:53605812-53606177	HepG2	liver:	n/a	n/a
5	ARID3A	chr6:53657160-53657351	HepG2	liver:	n/a	n/a
6	ARID3A	chr6:53602664-53602887	HepG2	liver:	n/a	n/a
7	ATF1	chr6:53619638-53619660	K562	blood:	n/a	n/a
8	BACH1	chr6:53659401-53660154	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr6:53658262-53658776	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr6:53660668-53660741	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr6:53719722-53719955	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr6:53676017-53676359	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr6:53726148-53726355	H1-hESC	embryonic stem cell:	n/a	n/a
14	BCL11A	chr6:53676162-53676332	GM12878	blood:	n/a	n/a
15	BCL3	chr6:53659452-53659807	A549	lung:	n/a	n/a
16	BHLHE40	chr6:53675989-53676336	GM12878	blood:	n/a	n/a
17	BHLHE40	chr6:53659017-53660092	GM12878	blood:	n/a	n/a
18	BRCA1	chr6:53659005-53659817	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr6:53658983-53659175	H1-hESC	embryonic stem cell:	n/a	n/a
20	BRCA1	chr6:53659597-53659797	HepG2	liver:	n/a	n/a
21	CBX3	chr6:53675896-53676455	HCT-116	colon:	n/a	n/a
22	CEBPB	chr6:53617457-53617998	IMR90	lung:	n/a	chr6:53617801-53617812
23	CEBPB	chr6:53658592-53658792	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr6:53617669-53617918	A549	lung:	n/a	chr6:53617801-53617812
25	CEBPB	chr6:53617739-53617879	HepG2	liver:	n/a	chr6:53617801-53617812
26	CEBPB	chr6:53734769-53735146	MCF-7	breast:	n/a	n/a
27	CEBPB	chr6:53740098-53740337	A549	lung:	n/a	chr6:53740211-53740222
28	CEBPB	chr6:53609963-53610202	H1-hESC	embryonic stem cell:	n/a	chr6:53610082-53610093
29	CEBPB	chr6:53635506-53635994	IMR90	lung:	n/a	chr6:53635594-53635611 chr6:53635632-53635643
30	CEBPB	chr6:53683905-53684156	A549	lung:	n/a	chr6:53683992-53684003 chr6:53683991-53684004
31	CEBPB	chr6:53661084-53661419	MCF-7	breast:	n/a	n/a
32	CEBPB	chr6:53760996-53761416	ECC-1	luminal epithelium:	n/a	n/a
33	CEBPB	chr6:53683907-53684121	HepG2	liver:	n/a	chr6:53683992-53684003 chr6:53683991-53684004
34	CEBPB	chr6:53761088-53761338	A549	lung:	n/a	n/a
35	CEBPB	chr6:53641128-53641329	HepG2	liver:	n/a	chr6:53641150-53641161
36	CEBPB	chr6:53719757-53720109	HepG2	liver:	n/a	n/a
37	CEBPB	chr6:53699877-53700069	IMR90	lung:	n/a	chr6:53699954-53699965
38	CEBPB	chr6:53683841-53684172	IMR90	lung:	n/a	chr6:53683992-53684003 chr6:53683991-53684004
39	CEBPB	chr6:53704011-53704073	A549	lung:	n/a	chr6:53704058-53704071
40	CEBPB	chr6:53761070-53761270	HepG2	liver:	n/a	n/a
41	CEBPB	chr6:53760926-53761462	MCF-7	breast:	n/a	n/a
42	CEBPB	chr6:53665912-53666239	IMR90	lung:	n/a	chr6:53666085-53666096 chr6:53666085-53666098
43	CEBPB	chr6:53761011-53761386	ECC-1	luminal epithelium:	n/a	n/a
44	CEBPB	chr6:53609969-53610236	HepG2	liver:	n/a	chr6:53610082-53610093
45	CEBPB	chr6:53719739-53720122	HepG2	liver:	n/a	n/a
46	CEBPB	chr6:53661049-53661265	HepG2	liver:	n/a	n/a
47	CEBPB	chr6:53691363-53691710	HepG2	liver:	n/a	chr6:53691536-53691547
48	CEBPB	chr6:53740071-53740384	HepG2	liver:	n/a	chr6:53740211-53740222
49	CEBPB	chr6:53659559-53659832	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr6:53740083-53740381	IMR90	lung:	n/a	chr6:53740211-53740222

(count:1526 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:53658866-53658916	NH-A	brain:	n/a
2	chr6:53658866-53658916	NH-A	brain:	n/a
3	chr6:53658866-53658916	NT2-D1	testis:	n/a
4	chr6:53659348-53659398	GM12892	blood:	n/a
5	chr6:53658617-53658667	PrEC	prostate:	n/a
6	chr6:53617701-53617751	HCPEpiC	choroid plexus:	n/a
7	chr6:53660053-53660103	AG09309	skin:	n/a
8	chr6:53760757-53760807	SK-N-SH_RA	brain:	n/a
9	chr6:53660053-53660103	HCM	heart:	n/a
10	chr6:53693227-53693277	PrEC	prostate:	n/a
11	chr6:53760757-53760807	AG04449	skin:	fetal
12	chr6:53659618-53659668	CMK	blood:	n/a
13	chr6:53656178-53656228	HRE	kidney:	n/a
14	chr6:53761698-53761748	T-47D	breast:	n/a
15	chr6:53659379-53659429	HPAEpiC	pulmonary alveolar:	n/a
16	chr6:53760757-53760807	H1-hESC	embryonic stem cell:	embryo
17	chr6:53693227-53693277	K562	blood:	n/a
18	chr6:53658683-53658733	MCF-7	breast:	n/a
19	chr6:53658866-53658916	AG10803	skin:	n/a
20	chr6:53760757-53760807	HCT-116	colon:	n/a
21	chr6:53695333-53695383	HCF	heart:	n/a
22	chr6:53658617-53658667	SK-N-SH_RA	brain:	n/a
23	chr6:53667257-53667307	HNPCEpiC	eye:	n/a
24	chr6:53693227-53693277	SK-N-MC	brain:	n/a
25	chr6:53728998-53729048	HL-60	blood:	n/a
26	chr6:53659077-53659127	HL-60	blood:	n/a
27	chr6:53661064-53661114	IMR90	lung:	fetal
28	chr6:53693227-53693277	Hela-S3	cervix:	n/a
29	chr6:53661064-53661114	LNCaP	prostate:	n/a
30	chr6:53728998-53729048	GM12892	blood:	n/a
31	chr6:53656178-53656228	HAEpiC	amniotic membrane:	n/a
32	chr6:53661064-53661114	HEEpiC	esophagus:	n/a
33	chr6:53660418-53660468	SK-N-SH_RA	brain:	n/a
34	chr6:53659379-53659429	HEK293	kidney:	embryo
35	chr6:53695333-53695383	K562	blood:	n/a
36	chr6:53659348-53659398	MCF10A-Er-Src	breast:	n/a
37	chr6:53660053-53660103	ovcar-3	ovarian:	n/a
38	chr6:53761698-53761748	HIPEpiC	eye:	n/a
39	chr6:53661064-53661114	PANC-1	pancreas:	n/a
40	chr6:53660053-53660103	HIPEpiC	eye:	n/a
41	chr6:53659983-53660033	T-47D	breast:	n/a
42	chr6:53660854-53660904	HNPCEpiC	eye:	n/a
43	chr6:53659983-53660033	U87	brain:	n/a
44	chr6:53659983-53660033	HepG2	liver:	n/a
45	chr6:53656178-53656228	AG04450	lung:	fetal
46	chr6:53728998-53729048	HAEpiC	amniotic membrane:	n/a
47	chr6:53658683-53658733	NHDF-neo	bronchial:	n/a
48	chr6:53693227-53693277	PANC-1	pancreas:	n/a
49	chr6:53659348-53659398	HAEpiC	amniotic membrane:	n/a
50	chr6:53617701-53617751	NH-A	brain:	n/a

(count:98 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:53663341..53666059-chr6:53671400..53673766,2	MCF-7	breast:
2	chr6:53681224..53682761-chr6:53685337..53687008,2	K562	blood:
3	chr6:53765189..53768016-chr6:53774461..53775969,2	MCF-7	breast:
4	chr6:53649557..53653333-chr6:53658830..53661441,3	MCF-7	breast:
5	chr6:53762030..53763793-chr6:53766610..53769238,2	K562	blood:
6	chr6:53588027..53590620-chr6:53675669..53678421,2	MCF-7	breast:
7	chr6:53595711..53597938-chr6:53598268..53600839,2	MCF-7	breast:
8	chr6:53672081..53674984-chr6:53705343..53707160,2	MCF-7	breast:
9	chr6:53329814..53330329-chr6:53676241..53676983,3	MCF-7	breast:
10	chr6:53717928..53719756-chr6:53728412..53730149,2	MCF-7	breast:
11	chr6:53598898..53601641-chr6:53603723..53606379,2	MCF-7	breast:
12	chr6:53668450..53670040-chr6:53712921..53715850,2	MCF-7	breast:
13	chr6:53658844..53661174-chr6:53672995..53675908,3	MCF-7	breast:
14	chr6:53659463..53660155-chr8:21998793..21999555,2	Hela-S3	cervix:
15	chr6:53658074..53661500-chr6:53665501..53670163,6	MCF-7	breast:
16	chr6:53719967..53722619-chr6:53723859..53726928,3	MCF-7	breast:
17	chr6:53714815..53716814-chr6:53717074..53718725,2	MCF-7	breast:
18	chr6:53618170..53621877-chr6:53658414..53662232,4	MCF-7	breast:
19	chr6:53590810..53593190-chr6:53597036..53600341,4	K562	blood:
20	chr6:53664733..53666465-chr6:53680416..53681978,2	MCF-7	breast:
21	chr6:53762293..53765107-chr6:53765198..53769238,3	K562	blood:
22	chr6:53610265..53615014-chr6:53656858..53662694,9	MCF-7	breast:
23	chr17:57969778..57970541-chr6:53659281..53659963,2	MCF-7	breast:
24	chr6:53668250..53669975-chr6:53693891..53696274,2	MCF-7	breast:
25	chr6:53658699..53661103-chr6:53683402..53686266,2	MCF-7	breast:
26	chr6:53660354..53661152-chr6:53734380..53735119,2	MCF-7	breast:
27	chr6:53664494..53666032-chr6:53727700..53729812,2	MCF-7	breast:
28	chr6:53668250..53669975-chr6:53693891..53696274,2	MCF-7	breast:
29	chr6:53651995..53655009-chr6:53655283..53658516,4	MCF-7	breast:
30	chr6:53657464..53661441-chr6:53668474..53671433,5	MCF-7	breast:
31	chr6:53655780..53657957-chr6:53717025..53719931,2	MCF-7	breast:
32	chr6:53617028..53618727-chr6:53619608..53622037,2	K562	blood:
33	chr6:53663341..53666059-chr6:53671400..53673766,2	MCF-7	breast:
34	chr6:53657877..53659758-chr6:53688042..53690060,2	MCF-7	breast:
35	chr6:53657031..53659924-chr6:53702076..53704577,3	MCF-7	breast:
36	chr6:53664733..53666465-chr6:53680416..53681978,2	MCF-7	breast:
37	chr6:53717928..53719756-chr6:53728412..53730149,2	MCF-7	breast:
38	chr6:53680007..53681550-chr6:53684589..53687118,2	MCF-7	breast:
39	chr6:53657682..53662159-chr6:53731929..53736372,8	MCF-7	breast:
40	chr6:53768489..53771106-chr6:53771711..53773800,2	MCF-7	breast:
41	chr6:53671854..53673444-chr6:53682878..53685695,2	MCF-7	breast:
42	chr6:53617168..53619456-chr6:53632557..53635306,2	MCF-7	breast:
43	chr6:53606986..53609308-chr6:53658404..53661072,2	MCF-7	breast:
44	chr6:53617028..53618727-chr6:53619608..53622037,2	K562	blood:
45	chr6:53714815..53716814-chr6:53717074..53718725,2	MCF-7	breast:
46	chr6:53652474..53654178-chr6:53661361..53663423,2	MCF-7	breast:
47	chr6:53659447..53660209-chr9:130564726..130565705,2	HCT-116	colon:
48	chr6:53720118..53721729-chr6:53744956..53746701,2	K562	blood:
49	chr6:53654376..53656765-chr6:53656869..53661036,5	MCF-7	breast:
50	chr6:53671854..53673444-chr6:53682878..53685695,2	MCF-7	breast:

(count:34 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC1-6	chr6:53603770-53604027	l_3193_chr6:53601343-53603926_prostate
2	lnc-KLHL31-2	chr6:53611224-53611401	XLOC_005748
3	lnc-KLHL31-2	chr6:53655673-53655986	XLOC_005748
4	lnc-KLHL31-2	chr6:53611707-53611814	NONHSAT113194
5	lnc-KLHL31-2	chr6:53658081-53658389	XLOC_005748
6	lnc-KLHL31-2	chr6:53658081-53658505	XLOC_005748
7	lnc-KLHL31-2	chr6:53611699-53611811	XLOC_005748
8	lnc-KLHL31-2	chr6:53600069-53600912	NONHSAT113194
9	lnc-LRRC1-6	chr6:53601332-53601448	NONHSAT113195
10	lnc-KLHL31-7	chr6:53719183-53719356	l_3194_chr6:53719182-53766189_thyroid
11	lnc-KLHL31-2	chr6:53658067-53658147	NONHSAT113194
12	lnc-KLHL31-2	chr6:53658339-53658488	NONHSAT113194
13	lnc-KLHL31-2	chr6:53606455-53606471	NONHSAT113194
14	lnc-KLHL31-2	chr6:53603240-53603794	NONHSAT113194
15	lnc-LRRC1-6	chr6:53601137-53601203	NONHSAT113195
16	lnc-LRRC1-6	chr6:53603770-53604151	NONHSAT113195
17	lnc-KLHL31-2	chr6:53658081-53658147	XLOC_005748
18	lnc-KLHL31-2	chr6:53658971-53659072	XLOC_005748
19	lnc-KLHL31-7	chr6:53719666-53719779	NONHSAT113201
20	lnc-KLHL31-2	chr6:53658081-53658135	XLOC_005748
21	lnc-LRRC1-6	chr6:53601344-53601448	l_3193_chr6:53601343-53603926_prostate
22	lnc-KLHL31-7	chr6:53719716-53719770	l_3194_chr6:53719182-53766189_thyroid
23	lnc-KLHL31-2	chr6:53611707-53611820	XLOC_005748
24	lnc-KLHL31-7	chr6:53766040-53766189	l_3194_chr6:53719182-53766189_thyroid
25	lnc-KLHL31-2	chr6:53611707-53611811	XLOC_005748
26	lnc-KLHL31-2	chr6:53614831-53615322	NONHSAT113194
27	lnc-KLHL31-2	chr6:53605547-53606136	XLOC_005748
28	lnc-KLHL31-2	chr6:53609017-53609162	XLOC_005748
29	lnc-KLHL31-2	chr6:53611279-53611401	NONHSAT113194
30	lnc-KLHL31-7	chr6:53713506-53714095	NONHSAT113201
31	lnc-KLHL31-2	chr6:53605629-53606136	NONHSAT113194
32	lnc-KLHL31-7	chr6:53716976-53717121	NONHSAT113201
33	lnc-KLHL31-2	chr6:53610490-53611401	XLOC_005748
34	lnc-KLHL31-2	chr6:53606477-53606833	NONHSAT113194

No data

Variant related genes	Relation type
ENSG00000227885	TF binding region
LRRC1	TF binding region
ENSG00000228614	TF binding region
ENSG00000227885	CpG island
LRRC1	CpG island
ENSG00000228614	CpG island
ENSG00000136877	chromatin interactions
ENSG00000137269	chromatin interactions
ENSG00000082641	chromatin interactions
ENSG00000228614	chromatin interactions
ENSG00000108423	chromatin interactions
ENSG00000168476	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000159346	chromatin interactions
ENSG00000227885	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000271218	chromatin interactions
MTHFD2	miRNA target sites
TMEM20	miRNA target sites
COL5A3	miRNA target sites
AFF4	miRNA target sites
FBXL3	miRNA target sites

Extended variants
information (count: 6248 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:6248 , 50 per page) page: 1 2 3 4 5 6 7 ... 125

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552688240	chr6:53600354-53600355	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
2	rs189815074	chr6:53600362-53600363	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs544673799	chr6:53600373-53600374	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs34734825	chr6:53600420-53600421	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs558342784	chr6:53600421-53600422	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs202165921	chr6:53600423-53600424	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs575128970	chr6:53600442-53600443	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs138884745	chr6:53600445-53600446	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs561282306	chr6:53600466-53600467	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs138743438	chr6:53600475-53600476	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs72424313	chr6:53600476-53600477	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs549959735	chr6:53600479-53600480	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs70980871	chr6:53600506-53600507	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs554259515	chr6:53600507-53600508	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs201901469	chr6:53600508-53600509	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs58522774	chr6:53600509-53600510	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs574122189	chr6:53600606-53600607	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs529935807	chr6:53600635-53600636	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs7759593	chr6:53600708-53600709	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs368042393	chr6:53600722-53600723	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs528619244	chr6:53600739-53600740	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs551865745	chr6:53600753-53600754	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs10456671	chr6:53600766-53600767	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs551441033	chr6:53600784-53600785	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs531159343	chr6:53600815-53600816	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs550893701	chr6:53600836-53600837	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs146956540	chr6:53600929-53600930	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs182509478	chr6:53600987-53600988	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs187162027	chr6:53601000-53601001	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs552952866	chr6:53601038-53601039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34859621	chr6:53601052-53601053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191913110	chr6:53601083-53601084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10456672	chr6:53601105-53601106	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs185179924	chr6:53601109-53601110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545418937	chr6:53601162-53601163	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs372249924	chr6:53601187-53601188	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs72941936	chr6:53601200-53601201	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs12212203	chr6:53601201-53601202	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs113718075	chr6:53601207-53601208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574678469	chr6:53601245-53601246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188941887	chr6:53601272-53601273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559801506	chr6:53601303-53601304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561456864	chr6:53601337-53601338	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs528531189	chr6:53601348-53601349	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs193114494	chr6:53601362-53601363	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs565427251	chr6:53601385-53601386	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs530902653	chr6:53601406-53601407	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs13211443	chr6:53601471-53601472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs13211444	chr6:53601476-53601477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551167386	chr6:53601485-53601486	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3330 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53596000-53601600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr6:53596000-53605600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:53597200-53604000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:53598400-53601000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:53598400-53601200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:53598400-53601400	Enhancers	Fetal Intestine Small	intestine
7	chr6:53598400-53603000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:53598600-53601400	Enhancers	Fetal Intestine Large	intestine
9	chr6:53599000-53600400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr6:53599000-53601000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:53599200-53600600	Enhancers	HSMM	muscle
12	chr6:53599200-53601200	Enhancers	Duodenum Mucosa	Duodenum
13	chr6:53599200-53603000	Enhancers	Fetal Heart	heart
14	chr6:53599400-53600400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:53599400-53601000	Enhancers	GM12878-XiMat	blood
16	chr6:53599400-53601200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:53599400-53601200	Enhancers	Fetal Thymus	thymus
18	chr6:53599400-53601200	Enhancers	Thymus	Thymus
19	chr6:53599400-53602200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr6:53599400-53602600	Enhancers	HSMMtube	muscle
21	chr6:53599600-53600800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:53599600-53600800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr6:53599600-53601000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:53599600-53601000	Enhancers	Placenta	Placenta
25	chr6:53599600-53601200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr6:53599600-53601200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr6:53599600-53601200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr6:53599800-53600800	Flanking Active TSS	Dnd41	blood
29	chr6:53599800-53601000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:53599800-53601000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr6:53599800-53601000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr6:53599800-53601000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:53599800-53601000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:53599800-53601000	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr6:53599800-53601200	Enhancers	Primary T cells from cord blood	blood
36	chr6:53599800-53601200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:53599800-53601200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr6:53599800-53601400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr6:53599800-53601600	Enhancers	Primary hematopoietic stem cells	blood
40	chr6:53599800-53602800	Enhancers	Brain Germinal Matrix	brain
41	chr6:53599800-53603000	Enhancers	HUVEC	blood vessel
42	chr6:53599800-53603200	Enhancers	NHEK	skin
43	chr6:53599800-53606200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr6:53600000-53600400	Enhancers	NH-A	brain
45	chr6:53600000-53600600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr6:53600000-53600600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr6:53600000-53600800	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr6:53600000-53600800	Enhancers	A549	lung
49	chr6:53600000-53601000	Enhancers	HMEC	breast
50	chr6:53600000-53601200	Enhancers	Primary neutrophils fromperipheralblood	blood

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