Variant report

Variant	esv2763587
Chromosome Location	chr6:101277874-101510491
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1424)
CpG islands
(count:854)
Chromatin interactive
region (count:81)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1424 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:101328295-101328654	K562	blood:	n/a	n/a
2	ARID3A	chr6:101339060-101339651	K562	blood:	n/a	n/a
3	ARID3A	chr6:101361710-101361821	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:101328160-101329909	HepG2	liver:	n/a	n/a
5	ARID3A	chr6:101396704-101396823	K562	blood:	n/a	n/a
6	ARID3A	chr6:101329171-101329282	K562	blood:	n/a	n/a
7	ARID3A	chr6:101309874-101310730	HepG2	liver:	n/a	n/a
8	ARID3A	chr6:101416990-101417029	HepG2	liver:	n/a	n/a
9	ARID3A	chr6:101396557-101397017	HepG2	liver:	n/a	n/a
10	ATF1	chr6:101329007-101329734	K562	blood:	n/a	n/a
11	ATF2	chr6:101340639-101340959	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr6:101328989-101329579	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr6:101328781-101329644	GM12878	blood:	n/a	n/a
14	ATF3	chr6:101329035-101329383	K562	blood:	n/a	chr6:101329222-101329236 chr6:101329076-101329085 chr6:101329299-101329308 chr6:101329222-101329242
15	BACH1	chr6:101307789-101307792	K562	blood:	n/a	n/a
16	BACH1	chr6:101329023-101329589	H1-hESC	embryonic stem cell:	n/a	n/a
17	BATF	chr6:101298141-101298334	GM12878	blood:	n/a	n/a
18	BCLAF1	chr6:101328830-101329530	K562	blood:	n/a	chr6:101329234-101329247
19	BCLAF1	chr6:101328702-101329584	GM12878	blood:	n/a	chr6:101329234-101329247
20	BCLAF1	chr6:101328965-101329677	GM12878	blood:	n/a	chr6:101329234-101329247
21	BHLHE40	chr6:101462027-101462064	GM12878	blood:	n/a	n/a
22	BHLHE40	chr6:101396832-101396917	K562	blood:	n/a	n/a
23	BHLHE40	chr6:101328597-101329538	GM12878	blood:	n/a	chr6:101328973-101328989
24	BHLHE40	chr6:101328724-101329517	HepG2	liver:	n/a	chr6:101328973-101328989
25	BHLHE40	chr6:101330212-101330739	K562	blood:	n/a	n/a
26	BHLHE40	chr6:101328625-101329968	K562	blood:	n/a	chr6:101328973-101328989
27	BRCA1	chr6:101467887-101468048	GM12878	blood:	n/a	n/a
28	BRCA1	chr6:101329902-101330016	HepG2	liver:	n/a	n/a
29	BRCA1	chr6:101328942-101329318	HepG2	liver:	n/a	n/a
30	BRCA1	chr6:101329474-101329674	H1-hESC	embryonic stem cell:	n/a	n/a
31	BRCA1	chr6:101328995-101329495	GM12878	blood:	n/a	n/a
32	BRCA1	chr6:101396520-101396961	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr6:101329003-101329597	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr6:101372001-101373154	Hela-S3	cervix:	n/a	n/a
35	CBX3	chr6:101346149-101346415	K562	blood:	n/a	n/a
36	CBX3	chr6:101328828-101329742	K562	blood:	n/a	n/a
37	CBX3	chr6:101346136-101346464	K562	blood:	n/a	n/a
38	CBX3	chr6:101328683-101329649	HCT-116	colon:	n/a	n/a
39	CCNT2	chr6:101396629-101397041	K562	blood:	n/a	n/a
40	CCNT2	chr6:101328683-101329932	K562	blood:	n/a	chr6:101328716-101328725
41	CCNT2	chr6:101339079-101339553	K562	blood:	n/a	n/a
42	CEBPB	chr6:101396522-101397007	K562	blood:	n/a	n/a
43	CEBPB	chr6:101328361-101328566	HepG2	liver:	n/a	chr6:101328477-101328488 chr6:101328477-101328490 chr6:101328449-101328460 chr6:101328479-101328488 chr6:101328479-101328488 chr6:101328479-101328488 chr6:101328477-101328490
44	CEBPB	chr6:101328237-101328953	A549	lung:	n/a	chr6:101328477-101328488 chr6:101328477-101328490 chr6:101328449-101328460 chr6:101328479-101328488 chr6:101328479-101328488 chr6:101328479-101328488 chr6:101328477-101328490
45	CEBPB	chr6:101372514-101372786	K562	blood:	n/a	chr6:101372666-101372677
46	CEBPB	chr6:101328260-101329660	Hela-S3	cervix:	n/a	chr6:101328477-101328488 chr6:101328477-101328490 chr6:101328449-101328460 chr6:101328479-101328488 chr6:101328479-101328488 chr6:101328479-101328488 chr6:101328477-101328490
47	CEBPB	chr6:101323726-101324047	K562	blood:	n/a	chr6:101323917-101323930 chr6:101323918-101323929 chr6:101323917-101323928
48	CEBPB	chr6:101331250-101331545	Hela-S3	cervix:	n/a	chr6:101331407-101331418
49	CEBPB	chr6:101331224-101331609	A549	lung:	n/a	chr6:101331407-101331418
50	CEBPB	chr6:101339116-101339649	K562	blood:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:101448078-101448128	SK-N-SH	brain:	n/a
2	chr6:101329502-101329552	HCM	heart:	n/a
3	chr6:101329502-101329552	AoSMC	blood vessel:	n/a
4	chr6:101306732-101306782	SK-N-MC	brain:	n/a
5	chr6:101329169-101329219	PFSK-1	brain:	n/a
6	chr6:101329504-101329554	HL-60	blood:	n/a
7	chr6:101448078-101448128	HL-60	blood:	n/a
8	chr6:101329307-101329357	PFSK-1	brain:	n/a
9	chr6:101448078-101448128	HepG2	liver:	n/a
10	chr6:101448078-101448128	BJ	skin:	n/a
11	chr6:101328941-101328991	Hepatocyte	liver:	n/a
12	chr6:101329304-101329354	SAEC	small airway:	n/a
13	chr6:101328506-101328556	SKMC	muscle:	n/a
14	chr6:101329408-101329458	Jurkat	blood:	n/a
15	chr6:101329408-101329458	RPTEC	kidney:	n/a
16	chr6:101329304-101329354	HUVEC	blood vessel:	n/a
17	chr6:101329304-101329354	MCF-7	breast:	n/a
18	chr6:101325415-101325465	AG10803	skin:	n/a
19	chr6:101325415-101325465	CMK	blood:	n/a
20	chr6:101329504-101329554	GM06990	blood:	n/a
21	chr6:101329169-101329219	HAEpiC	amniotic membrane:	n/a
22	chr6:101308372-101308422	HCF	heart:	n/a
23	chr6:101329119-101329169	HRE	kidney:	n/a
24	chr6:101329307-101329357	BJ	skin:	n/a
25	chr6:101306732-101306782	SK-N-SH	brain:	n/a
26	chr6:101329502-101329552	HRPEpiC	eye:	n/a
27	chr6:101329304-101329354	U87	brain:	n/a
28	chr6:101329502-101329552	SK-N-SH_RA	brain:	n/a
29	chr6:101308372-101308422	T-47D	breast:	n/a
30	chr6:101329504-101329554	AG09309	skin:	n/a
31	chr6:101329119-101329169	NH-A	brain:	n/a
32	chr6:101329504-101329554	LNCaP	prostate:	n/a
33	chr6:101329307-101329357	SK-N-SH	brain:	n/a
34	chr6:101329408-101329458	HNPCEpiC	eye:	n/a
35	chr6:101306732-101306782	NHDF-neo	bronchial:	n/a
36	chr6:101329169-101329219	NB4	blood:	n/a
37	chr6:101329169-101329219	SK-N-SH_RA	brain:	n/a
38	chr6:101329408-101329458	T-47D	breast:	n/a
39	chr6:101328506-101328556	K562	blood:	n/a
40	chr6:101306732-101306782	HCF	heart:	n/a
41	chr6:101329502-101329552	HCF	heart:	n/a
42	chr6:101329408-101329458	HCPEpiC	choroid plexus:	n/a
43	chr6:101329307-101329357	ECC-1	luminal epithelium:	n/a
44	chr6:101329307-101329357	HAEpiC	amniotic membrane:	n/a
45	chr6:101328506-101328556	HRE	kidney:	n/a
46	chr6:101329169-101329219	HCT-116	colon:	n/a
47	chr6:101328506-101328556	HNPCEpiC	eye:	n/a
48	chr6:101306732-101306782	GM12891	blood:	n/a
49	chr6:101329502-101329552	Caco-2	colon:	n/a
50	chr6:101325415-101325465	HAEpiC	amniotic membrane:	n/a

(count:81 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:101302750..101305984-chr6:101307403..101310104,4	K562	blood:
2	chr6:101467552..101469829-chr6:101470681..101473630,2	MCF-7	breast:
3	chr6:101302750..101305984-chr6:101307403..101310104,4	K562	blood:
4	chr6:101309386..101311336-chr6:101316442..101318776,3	K562	blood:
5	chr6:101411504..101413327-chr6:101470844..101473368,2	MCF-7	breast:
6	chr6:101340211..101341918-chr6:101348569..101350862,2	K562	blood:
7	chr6:101309650..101312548-chr6:101313030..101314755,2	MCF-7	breast:
8	chr6:101302750..101305645-chr6:101307403..101308925,2	K562	blood:
9	chr6:101333797..101336056-chr6:101337811..101340573,2	MCF-7	breast:
10	chr6:101467552..101469829-chr6:101470681..101473630,2	MCF-7	breast:
11	chr6:101326886..101330925-chr6:101337161..101339877,4	MCF-7	breast:
12	chr6:101326886..101330925-chr6:101337161..101339877,4	MCF-7	breast:
13	chr6:101452622..101455428-chr6:101458387..101460104,2	MCF-7	breast:
14	chr6:101328677..101332841-chr6:101334376..101338552,5	K562	blood:
15	chr6:101315511..101317723-chr6:101321403..101323944,2	K562	blood:
16	chr6:101271307..101273305-chr6:101294411..101297319,2	K562	blood:
17	chr6:101315511..101317723-chr6:101321403..101323944,2	K562	blood:
18	chr6:101328331..101330007-chr6:101341794..101343997,2	K562	blood:
19	chr6:101286650..101289518-chr6:101298601..101300535,2	K562	blood:
20	chr6:101309386..101311336-chr6:101316442..101318776,3	K562	blood:
21	chr6:101316563..101319212-chr6:101321882..101324252,3	K562	blood:
22	chr6:101316563..101319212-chr6:101321882..101324252,3	K562	blood:
23	chr6:101298656..101300924-chr6:101302449..101304215,2	MCF-7	breast:
24	chr6:101321078..101323999-chr6:101327365..101330497,3	K562	blood:
25	chr6:101325336..101331866-chr6:101332086..101337094,13	K562	blood:
26	chr6:101315815..101318038-chr6:101328933..101331740,2	MCF-7	breast:
27	chr6:101337316..101339556-chr6:101341141..101344086,2	K562	blood:
28	chr6:101319726..101322538-chr6:101323434..101327261,5	K562	blood:
29	chr6:101319726..101322538-chr6:101323434..101327261,5	K562	blood:
30	chr6:101452622..101455428-chr6:101458387..101460104,2	MCF-7	breast:
31	chr6:101340211..101341918-chr6:101348569..101350862,2	K562	blood:
32	chr6:101333586..101335134-chr6:101338753..101340690,2	K562	blood:
33	chr6:101309907..101311830-chr6:101327508..101329976,2	K562	blood:
34	chr6:101243998..101244878-chr6:101416721..101417385,2	MCF-7	breast:
35	chr6:101299454..101302050-chr6:101304670..101307311,3	MCF-7	breast:
36	chr6:101327650..101330005-chr6:101331234..101332758,2	K562	blood:
37	chr22:38070566..38071398-chr6:101425937..101426501,2	HCT-116	colon:
38	chr6:101341802..101344010-chr6:101345674..101348065,2	K562	blood:
39	chr6:101286650..101289518-chr6:101298601..101300535,2	K562	blood:
40	chr6:101333586..101335134-chr6:101338753..101340690,2	K562	blood:
41	chr6:101333797..101336056-chr6:101337811..101340573,2	MCF-7	breast:
42	chr6:101328627..101330920-chr6:101364581..101367417,2	K562	blood:
43	chr6:101327181..101330084-chr6:117801293..117803939,2	K562	blood:
44	chr6:101321574..101324468-chr6:101327088..101328680,2	MCF-7	breast:
45	chr6:101184266..101186701-chr6:101321079..101322607,2	K562	blood:
46	chr6:100557223..100558887-chr6:101377861..101380025,2	K562	blood:
47	chr6:101302750..101305645-chr6:101307403..101308925,2	K562	blood:
48	chr6:101294725..101296598-chr6:101316147..101318633,2	K562	blood:
49	chr6:101302214..101305047-chr6:101327915..101330416,2	MCF-7	breast:
50	chr6:101328640..101330753-chr6:101345381..101346977,2	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRIK2-5	chr6:101332648-101334181	NONHSAT114163
2	lnc-GRIK2-5	chr6:101336895-101338371	NONHSAT114163
3	lnc-GRIK2-1	chr6:101410581-101410627	XLOC_005405
4	lnc-GRIK2-1	chr6:101410735-101411032	XLOC_005405
5	lnc-GRIK2-5	chr6:101346251-101346864	NONHSAT114163
6	lnc-ASCC3-2	chr6:101335104-101335291	NONHSAT114164
7	lnc-ASCC3-2	chr6:101334427-101334598	NONHSAT114164
8	lnc-GRIK2-4	chr6:101391882-101391952	NONHSAT114166
9	lnc-ASCC3-2	chr6:101334755-101334895	NONHSAT114164
10	lnc-GRIK2-5	chr6:101337479-101338214	NONHSAT114165
11	lnc-GRIK2-4	chr6:101377136-101377267	NONHSAT114166
12	lnc-GRIK2-2	chr6:101329347-101330863	ENSG00000260000.2
13	lnc-GRIK2-2	chr6:101329347-101330847	ENSG00000260000.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ASCC3	hsa-miR-30a-5p	chr6:101305993-101306014
2	ASCC3	hsa-miR-16-5p	chr6:101304922-101304942

Variant related genes	Relation type
ENSG00000238999	TF binding region
ENSG00000270987	TF binding region
ASCC3	TF binding region
ENSG00000260000	TF binding region
ENSG00000238999	CpG island
ENSG00000270987	CpG island
ASCC3	CpG island
ENSG00000260000	CpG island
ENSG00000260000	chromatin interactions
ENSG00000250312	chromatin interactions
ENSG00000149679	chromatin interactions
ENSG00000164465	chromatin interactions
ENSG00000270987	chromatin interactions
ENSG00000134419	chromatin interactions
ENSG00000112249	chromatin interactions

Extended variants
information (count: 5385 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:5385 , 50 per page) page: 1 2 3 4 5 6 7 ... 108

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188769435	chr6:101277902-101277903	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6917195	chr6:101277926-101277927	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs555231963	chr6:101277932-101277933	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554768932	chr6:101277933-101277934	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574371734	chr6:101277946-101277947	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566612732	chr6:101277989-101277990	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553299530	chr6:101278037-101278038	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552902416	chr6:101278078-101278079	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577609958	chr6:101278122-101278123	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117469849	chr6:101278159-101278160	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117680584	chr6:101278177-101278178	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575715782	chr6:101278195-101278196	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117064774	chr6:101278261-101278262	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561540963	chr6:101278294-101278295	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528735314	chr6:101278301-101278302	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540928517	chr6:101278316-101278317	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs13209283	chr6:101278366-101278367	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182034951	chr6:101278368-101278369	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9498402	chr6:101278398-101278399	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs372378697	chr6:101278441-101278442	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367944780	chr6:101278447-101278448	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370563540	chr6:101278472-101278473	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9485414	chr6:101278488-101278489	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs529808890	chr6:101278536-101278537	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73506919	chr6:101278543-101278544	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566662241	chr6:101278580-101278581	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17061152	chr6:101278582-101278583	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552043299	chr6:101278589-101278590	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151142669	chr6:101278602-101278603	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574988613	chr6:101278644-101278645	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556952136	chr6:101278649-101278650	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140235125	chr6:101278661-101278662	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536756072	chr6:101278663-101278664	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189755071	chr6:101278705-101278706	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181408884	chr6:101278733-101278734	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185276117	chr6:101278828-101278829	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369665886	chr6:101278831-101278832	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577631888	chr6:101278911-101278912	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190030968	chr6:101278924-101278925	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546019798	chr6:101278928-101278929	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111978961	chr6:101279000-101279001	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs705592	chr6:101279036-101279037	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs181774271	chr6:101279046-101279047	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550826306	chr6:101279063-101279064	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560029005	chr6:101279065-101279066	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527467760	chr6:101279086-101279087	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551976095	chr6:101279115-101279116	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146855693	chr6:101279126-101279127	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567620411	chr6:101279174-101279175	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372665595	chr6:101279184-101279185	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Ependymoma	16718352	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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1830 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101184400-101304600	Weak transcription	Hela-S3	cervix
2	chr6:101212000-101281400	Weak transcription	Aorta	Aorta
3	chr6:101213600-101281600	Weak transcription	Gastric	stomach
4	chr6:101214800-101281600	Weak transcription	Left Ventricle	heart
5	chr6:101215200-101311400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:101226000-101281400	Weak transcription	HUVEC	blood vessel
7	chr6:101233600-101306600	Weak transcription	K562	blood
8	chr6:101238000-101296200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:101244600-101296200	Weak transcription	NH-A	brain
10	chr6:101249400-101298200	Weak transcription	A549	lung
11	chr6:101252200-101293800	Weak transcription	HMEC	breast
12	chr6:101252200-101295600	Weak transcription	NHDF-Ad	bronchial
13	chr6:101253200-101294800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:101253400-101284400	Weak transcription	Primary B cells from cord blood	blood
15	chr6:101253400-101295600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr6:101253400-101295800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:101253400-101304200	Weak transcription	Primary T cells from cord blood	blood
18	chr6:101253600-101284000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:101253800-101292600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr6:101253800-101295600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:101257600-101294200	Weak transcription	Osteobl	bone
22	chr6:101258200-101295600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:101261400-101279400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr6:101264000-101295600	Weak transcription	HepG2	liver
25	chr6:101266400-101281400	Weak transcription	Pancreas	Pancrea
26	chr6:101268600-101278800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:101269000-101279200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr6:101269000-101281600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr6:101269200-101279800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:101269200-101326600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:101271200-101296000	Weak transcription	Ovary	ovary
32	chr6:101271400-101296000	Weak transcription	HSMMtube	muscle
33	chr6:101272200-101289800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:101273600-101291200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr6:101274400-101279200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:101274600-101295600	Weak transcription	Fetal Thymus	thymus
37	chr6:101274800-101282000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:101275000-101279200	Weak transcription	Liver	Liver
39	chr6:101275200-101278800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:101275800-101314400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr6:101276200-101278000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:101276200-101278000	ZNF genes & repeats	Fetal Intestine Small	intestine
43	chr6:101276200-101278600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:101276200-101278600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:101276600-101284400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:101276600-101294200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:101276600-101295400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr6:101276800-101278000	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr6:101277000-101290000	Weak transcription	Fetal Lung	lung
50	chr6:101277000-101295600	Weak transcription	Primary B cells from peripheral blood	blood

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