Variant report

Variant	nsv1019670
Chromosome Location	chr6:81086504-81569984
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2511)
CpG islands
(count:366)
Chromatin interactive
region (count:37)
LncRNA
region (count:58)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2511 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:81233387-81233833	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:81383144-81383289	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:81178014-81178558	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:81236915-81238174	HepG2	liver:	n/a	n/a
5	ARID3A	chr6:81213448-81213851	HepG2	liver:	n/a	n/a
6	ARID3A	chr6:81348526-81348723	HepG2	liver:	n/a	n/a
7	ARID3A	chr6:81218332-81219179	HepG2	liver:	n/a	n/a
8	BACH1	chr6:81233340-81233540	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr6:81250971-81251188	GM12878	blood:	n/a	n/a
10	BATF	chr6:81092591-81092738	GM12878	blood:	n/a	n/a
11	BATF	chr6:81197933-81198186	GM12878	blood:	n/a	n/a
12	BATF	chr6:81163931-81164208	GM12878	blood:	n/a	n/a
13	BATF	chr6:81348490-81348663	GM12878	blood:	n/a	chr6:81348581-81348592 chr6:81348582-81348592
14	BCL11A	chr6:81164068-81164236	GM12878	blood:	n/a	n/a
15	BCL11A	chr6:81163909-81164238	GM12878	blood:	n/a	n/a
16	BCL3	chr6:81253516-81253752	GM12878	blood:	n/a	n/a
17	BHLHE40	chr6:81473026-81473180	GM12878	blood:	n/a	n/a
18	BHLHE40	chr6:81213410-81213759	HepG2	liver:	n/a	n/a
19	BHLHE40	chr6:81236966-81237738	HepG2	liver:	n/a	n/a
20	BHLHE40	chr6:81218529-81218978	HepG2	liver:	n/a	n/a
21	BHLHE40	chr6:81145349-81145398	GM12878	blood:	n/a	n/a
22	BHLHE40	chr6:81163920-81164330	GM12878	blood:	n/a	n/a
23	BRCA1	chr6:81259042-81259178	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr6:81350130-81350139	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr6:81250843-81251214	Hela-S3	cervix:	n/a	n/a
26	CBX3	chr6:81348261-81348886	HCT-116	colon:	n/a	n/a
27	CBX3	chr6:81245604-81246020	HCT-116	colon:	n/a	n/a
28	CBX3	chr6:81250692-81251437	HCT-116	colon:	n/a	n/a
29	CBX3	chr6:81233225-81233635	HCT-116	colon:	n/a	n/a
30	CBX3	chr6:81348257-81348942	HCT-116	colon:	n/a	n/a
31	CEBPB	chr6:81167012-81167422	Hela-S3	cervix:	n/a	chr6:81167259-81167267
32	CEBPB	chr6:81328726-81329139	IMR90	lung:	n/a	n/a
33	CEBPB	chr6:81519027-81519285	Hela-S3	cervix:	n/a	chr6:81519135-81519146
34	CEBPB	chr6:81213464-81213792	HepG2	liver:	n/a	n/a
35	CEBPB	chr6:81438090-81438429	A549	lung:	n/a	chr6:81438268-81438281 chr6:81438269-81438280
36	CEBPB	chr6:81159340-81159381	IMR90	lung:	n/a	n/a
37	CEBPB	chr6:81218608-81218987	IMR90	lung:	n/a	chr6:81218792-81218801 chr6:81218790-81218801 chr6:81218792-81218803
38	CEBPB	chr6:81258297-81258625	IMR90	lung:	n/a	n/a
39	CEBPB	chr6:81166932-81167493	IMR90	lung:	n/a	chr6:81167259-81167267
40	CEBPB	chr6:81518980-81519280	HepG2	liver:	n/a	chr6:81519135-81519146
41	CEBPB	chr6:81381845-81381960	A549	lung:	n/a	chr6:81381914-81381925 chr6:81381913-81381924 chr6:81381915-81381924
42	CEBPB	chr6:81317393-81318164	Hela-S3	cervix:	n/a	chr6:81317605-81317618 chr6:81317606-81317617 chr6:81317605-81317616 chr6:81317605-81317618
43	CEBPB	chr6:81134992-81135210	HepG2	liver:	n/a	chr6:81135037-81135048 chr6:81135037-81135050 chr6:81135038-81135049 chr6:81135039-81135048
44	CEBPB	chr6:81169761-81170098	IMR90	lung:	n/a	chr6:81169948-81169965 chr6:81169951-81169962 chr6:81169953-81169964 chr6:81169951-81169964
45	CEBPB	chr6:81400436-81400715	IMR90	lung:	n/a	n/a
46	CEBPB	chr6:81218637-81218947	H1-hESC	embryonic stem cell:	n/a	chr6:81218792-81218801 chr6:81218790-81218801 chr6:81218792-81218803
47	CEBPB	chr6:81148241-81148920	HCT-116	colon:	n/a	n/a
48	CEBPB	chr6:81516597-81516856	IMR90	lung:	n/a	n/a
49	CEBPB	chr6:81218601-81218983	HepG2	liver:	n/a	chr6:81218792-81218801 chr6:81218790-81218801 chr6:81218792-81218803
50	CEBPB	chr6:81317402-81317780	A549	lung:	n/a	chr6:81317605-81317618 chr6:81317606-81317617 chr6:81317605-81317616 chr6:81317605-81317618

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:81134616-81134666	HL-60	blood:	n/a
2	chr6:81283368-81283418	SK-N-SH	brain:	n/a
3	chr6:81283368-81283418	AG04449	skin:	fetal
4	chr6:81233028-81233078	HEEpiC	esophagus:	n/a
5	chr6:81252663-81252713	A549	lung:	n/a
6	chr6:81283368-81283418	GM12878	blood:	n/a
7	chr6:81252663-81252713	AoSMC	blood vessel:	n/a
8	chr6:81283368-81283418	LNCaP	prostate:	n/a
9	chr6:81233028-81233078	NH-A	brain:	n/a
10	chr6:81134616-81134666	SK-N-SH_RA	brain:	n/a
11	chr6:81134616-81134666	IMR90	lung:	fetal
12	chr6:81233028-81233078	SK-N-MC	brain:	n/a
13	chr6:81259014-81259064	GM12891	blood:	n/a
14	chr6:81348044-81348094	AG09319	gingival:	n/a
15	chr6:81233028-81233078	GM12892	blood:	n/a
16	chr6:81283368-81283418	PrEC	prostate:	n/a
17	chr6:81283368-81283418	HEEpiC	esophagus:	n/a
18	chr6:81348044-81348094	HepG2	liver:	n/a
19	chr6:81252663-81252713	RPTEC	kidney:	n/a
20	chr6:81348044-81348094	SK-N-SH	brain:	n/a
21	chr6:81134616-81134666	AG09309	skin:	n/a
22	chr6:81283368-81283418	NT2-D1	testis:	n/a
23	chr6:81348044-81348094	Jurkat	blood:	n/a
24	chr6:81283368-81283418	ovcar-3	ovarian:	n/a
25	chr6:81134616-81134666	HRCEpiC	kidney:	n/a
26	chr6:81348044-81348094	HIPEpiC	eye:	n/a
27	chr6:81252663-81252713	HUVEC	blood vessel:	n/a
28	chr6:81283368-81283418	MCF10A-Er-Src	breast:	n/a
29	chr6:81252663-81252713	ovcar-3	ovarian:	n/a
30	chr6:81259014-81259064	Jurkat	blood:	n/a
31	chr6:81252663-81252713	HCF	heart:	n/a
32	chr6:81259014-81259064	HMEC	breast:	n/a
33	chr6:81252663-81252713	HIPEpiC	eye:	n/a
34	chr6:81233028-81233078	HNPCEpiC	eye:	n/a
35	chr6:81348044-81348094	SK-N-MC	brain:	n/a
36	chr6:81259014-81259064	MCF10A-Er-Src	breast:	n/a
37	chr6:81134616-81134666	MCF-7	breast:	n/a
38	chr6:81233028-81233078	HRPEpiC	eye:	n/a
39	chr6:81283368-81283418	HRCEpiC	kidney:	n/a
40	chr6:81348044-81348094	HRPEpiC	eye:	n/a
41	chr6:81348044-81348094	HUVEC	blood vessel:	n/a
42	chr6:81134616-81134666	NB4	blood:	n/a
43	chr6:81134616-81134666	GM12891	blood:	n/a
44	chr6:81259014-81259064	HCPEpiC	choroid plexus:	n/a
45	chr6:81233028-81233078	MCF-7	breast:	n/a
46	chr6:81134616-81134666	HMEC	breast:	n/a
47	chr6:81233028-81233078	H1-hESC	embryonic stem cell:	embryo
48	chr6:81252663-81252713	MCF-7	breast:	n/a
49	chr6:81259014-81259064	RPTEC	kidney:	n/a
50	chr6:81259014-81259064	BJ	skin:	n/a

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:81314911..81315522-chr6:81785483..81786072,2	MCF-7	breast:
2	chr6:81521173..81524093-chr6:81524294..81526151,2	MCF-7	breast:
3	chr6:81213174..81214838-chr6:81216651..81219122,2	MCF-7	breast:
4	chr6:81521173..81524093-chr6:81524294..81526151,2	MCF-7	breast:
5	chr6:81298968..81300811-chr6:81302050..81303773,2	MCF-7	breast:
6	chr6:81159444..81161746-chr6:81166176..81167812,2	MCF-7	breast:
7	chr6:81249220..81251616-chr6:81254290..81256470,2	MCF-7	breast:
8	chr6:81264062..81265646-chr6:81268549..81270670,2	MCF-7	breast:
9	chr6:81069036..81071236-chr6:81098177..81100852,2	K562	blood:
10	chr6:81412447..81415147-chr6:82462041..82464477,2	K562	blood:
11	chr6:81047988..81048553-chr6:81186140..81186935,2	MCF-7	breast:
12	chr6:81159444..81161746-chr6:81166176..81167812,2	MCF-7	breast:
13	chr6:81409393..81411160-chr6:81414205..81416230,2	K562	blood:
14	chr6:81298968..81300811-chr6:81302050..81303773,2	MCF-7	breast:
15	chr6:81254930..81257563-chr6:81262833..81265650,2	K562	blood:
16	chr6:81249220..81251616-chr6:81254290..81256470,2	MCF-7	breast:
17	chr6:81213174..81214838-chr6:81216651..81219122,2	MCF-7	breast:
18	chr6:81475807..81477610-chr6:81479287..81482021,2	MCF-7	breast:
19	chr6:81047651..81048631-chr6:81237581..81238534,2	MCF-7	breast:
20	chr6:81244830..81247376-chr6:81252160..81253797,2	MCF-7	breast:
21	chr16:28172997..28173848-chr6:81237133..81237839,2	MCF-7	breast:
22	chr6:81475807..81477610-chr6:81479287..81482021,2	MCF-7	breast:
23	chr6:81383718..81384315-chr6:81452032..81452789,2	MCF-7	breast:
24	chr6:81452134..81452854-chr6:82175477..82176222,3	MCF-7	breast:
25	chr6:81244830..81247376-chr6:81252160..81253797,2	MCF-7	breast:
26	chr6:81409393..81411160-chr6:81414205..81416230,2	K562	blood:
27	chr6:80843054..80844740-chr6:81198148..81200503,2	MCF-7	breast:
28	chr6:81168885..81171049-chr6:81175786..81177907,2	MCF-7	breast:
29	chr6:81047806..81048624-chr6:81314824..81315362,2	MCF-7	breast:
30	chr6:81383718..81384315-chr6:81452032..81452789,2	MCF-7	breast:
31	chr6:81260471..81262004-chr6:81266433..81268034,2	MCF-7	breast:
32	chr6:81254930..81257563-chr6:81262833..81265650,2	K562	blood:
33	chr6:81432843..81435749-chr6:81437769..81439688,2	MCF-7	breast:
34	chr6:81432843..81435749-chr6:81437769..81439688,2	MCF-7	breast:
35	chr6:80924251..80924826-chr6:81185969..81186765,2	MCF-7	breast:
36	chr6:81266263..81267805-chr6:81274227..81276426,2	MCF-7	breast:
37	chr6:81264062..81265646-chr6:81268549..81270670,2	MCF-7	breast:

(count:58 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BCKDHB-1	chr6:81172589-81172913	XLOC_005365
2	lnc-BCKDHB-7	chr6:81209892-81209974	NONHSAT113738
3	lnc-BCKDHB-1	chr6:81175464-81175644	XLOC_005365
4	lnc-BCKDHB-1	chr6:81153115-81153255	XLOC_005365
5	lnc-BCKDHB-7	chr6:81209892-81209974	NONHSAT113739
6	lnc-BCKDHB-1	chr6:81153073-81153257	XLOC_005365
7	lnc-BCKDHB-1	chr6:81162874-81162978	ENSG00000233967.2
8	lnc-BCKDHB-1	chr6:81172589-81172924	XLOC_005365
9	lnc-BCKDHB-1	chr6:81162874-81162978	XLOC_005365
10	lnc-BCKDHB-1	chr6:81175464-81175572	XLOC_005365
11	lnc-BCKDHB-7	chr6:81220546-81220626	l_3211_chr6:81209944-81229502_76bGuttman_hES
12	lnc-BCKDHB-7	chr6:81220546-81220756	NONHSAT113739
13	lnc-BCKDHB-7	chr6:81232183-81232363	NONHSAT113737
14	lnc-BCKDHB-7	chr6:81220546-81220756	NONHSAT113738
15	lnc-BCKDHB-1	chr6:81162851-81162978	XLOC_005365
16	lnc-BCKDHB-1	chr6:81162874-81162975	XLOC_005365
17	lnc-BCKDHB-7	chr6:81219593-81219697	NONHSAT113737
18	lnc-BCKDHB-1	chr6:81163827-81163845	XLOC_005365
19	lnc-BCKDHB-7	chr6:81229308-81229508	NONHSAT113737
20	lnc-BCKDHB-1	chr6:81163827-81164037	XLOC_005365
21	lnc-BCKDHB-1	chr6:81172589-81172632	XLOC_005365
22	lnc-BCKDHB-7	chr6:81219570-81219697	NONHSAT113738
23	lnc-BCKDHB-1	chr6:81153061-81153255	XLOC_005365
24	lnc-BCKDHB-7	chr6:81229308-81229643	NONHSAT113739
25	lnc-BCKDHB-7	chr6:81229427-81229502	l_3211_chr6:81209944-81229502_76bGuttman_hES
26	lnc-BCKDHB-2	chr6:81176675-81178797	ENSG00000260645.1
27	lnc-BCKDHB-1	chr6:81172589-81172924	ENSG00000233967.2
28	lnc-BCKDHB-1	chr6:81163827-81163944	NONHSAT113727
29	lnc-BCKDHB-1	chr6:81172589-81172878	XLOC_005365
30	lnc-BCKDHB-1	chr6:81162851-81162978	XLOC_005365
31	lnc-BCKDHB-1	chr6:81172589-81172770	ENSG00000233967.2
32	lnc-BCKDHB-7	chr6:81219593-81219697	l_3211_chr6:81209944-81229502_76bGuttman_hES
33	lnc-BCKDHB-1	chr6:81162916-81162978	ENSG00000233967.2
34	lnc-BCKDHB-1	chr6:81163827-81163944	XLOC_005365
35	lnc-BCKDHB-1	chr6:81172589-81172789	XLOC_005365
36	lnc-BCKDHB-7	chr6:81232183-81232291	NONHSAT113738
37	lnc-BCKDHB-1	chr6:81162874-81162978	XLOC_005365
38	lnc-BCKDHB-1	chr6:81153002-81153255	XLOC_005365
39	lnc-BCKDHB-7	chr6:81219570-81219697	NONHSAT113739
40	lnc-BCKDHB-1	chr6:81162874-81162978	NONHSAT113727
41	lnc-BCKDHB-1	chr6:81128031-81128066	XLOC_005365
42	lnc-BCKDHB-1	chr6:81153173-81153255	XLOC_005365
43	lnc-BCKDHB-1	chr6:81172589-81172871	NONHSAT113727
44	lnc-BCKDHB-1	chr6:81153107-81153255	ENSG00000233967.2
45	lnc-BCKDHB-7	chr6:81209945-81209974	l_3211_chr6:81209944-81229502_76bGuttman_hES
46	lnc-BCKDHB-1	chr6:81172589-81172789	XLOC_005365
47	lnc-BCKDHB-1	chr6:81163827-81164037	XLOC_005365
48	lnc-BCKDHB-1	chr6:81162874-81162978	XLOC_005365
49	lnc-BCKDHB-5	chr6:81150447-81150889	NONHSAT113726
50	lnc-BCKDHB-1	chr6:81162874-81162978	XLOC_005365

No data

Variant related genes	Relation type
ENSG00000216352	TF binding region
ENSG00000260645	TF binding region
ENSG00000233967	TF binding region
ENSG00000219361	TF binding region
ENSG00000181705	TF binding region
RPL17P25	TF binding region
ENSG00000216352	CpG island
ENSG00000260645	CpG island
ENSG00000233967	CpG island
ENSG00000219361	CpG island
ENSG00000181705	CpG island
RPL17P25	CpG island
ENSG00000216352	chromatin interactions
ENSG00000112773	chromatin interactions
ENSG00000260645	chromatin interactions
MARCH4	miRNA target sites
PTEN	miRNA target sites
CTDSP2	miRNA target sites
MED28	miRNA target sites
DNAJA1	miRNA target sites
RABEP1	miRNA target sites
CD44	miRNA target sites
DMXL2	miRNA target sites
CTDSP1	miRNA target sites
CTDSPL	miRNA target sites

Extended variants
information (count: 13219 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:13219 , 50 per page) page: 1 2 3 4 5 6 7 ... 265

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192695570	chr6:81086512-81086513	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs184361662	chr6:81086517-81086518	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs550716388	chr6:81086571-81086572	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs145423778	chr6:81086596-81086597	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs146522647	chr6:81086607-81086608	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs189112508	chr6:81086608-81086609	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs875466	chr6:81086630-81086631	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs534952035	chr6:81086662-81086663	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs571135788	chr6:81086679-81086680	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs558098670	chr6:81086727-81086728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577977364	chr6:81086744-81086745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543643536	chr6:81086750-81086751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200676391	chr6:81086758-81086759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs397762104	chr6:81086775-81086776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557150898	chr6:81086867-81086868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573718840	chr6:81086909-81086910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542352013	chr6:81086914-81086915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141070771	chr6:81086915-81086916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150161743	chr6:81086924-81086925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35514295	chr6:81086938-81086939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528092966	chr6:81086947-81086948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544577918	chr6:81086951-81086952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538289174	chr6:81086978-81086979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373537004	chr6:81086979-81086980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565243416	chr6:81087039-81087040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531070199	chr6:81087062-81087063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556274402	chr6:81087084-81087085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550802479	chr6:81087099-81087100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567756986	chr6:81087125-81087126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547541962	chr6:81087135-81087136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530240504	chr6:81087138-81087139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72894103	chr6:81087139-81087140	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs143027247	chr6:81087141-81087142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370267526	chr6:81087176-81087177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539055980	chr6:81087198-81087199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148205455	chr6:81087225-81087226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553949103	chr6:81087227-81087228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386703072	chr6:81087243-81087244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6454157	chr6:81087244-81087245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs111549271	chr6:81087397-81087398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2082998	chr6:81087443-81087444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs552816999	chr6:81087453-81087454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539224234	chr6:81087462-81087463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572851241	chr6:81087479-81087480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548031748	chr6:81087521-81087522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544614648	chr6:81087559-81087560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564530905	chr6:81087618-81087619	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs150332583	chr6:81087652-81087653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184659007	chr6:81087674-81087675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561563780	chr6:81087675-81087676	Weak transcription	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	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
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Obesity	21131291	CNVD
Cancer	20164919	CNVD

Chromatin state (count:1673 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81078600-81105800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:81084200-81101000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:81084400-81103200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:81092000-81092800	Enhancers	Fetal Heart	heart
5	chr6:81092200-81093000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr6:81092200-81093000	Enhancers	Osteobl	bone
7	chr6:81092400-81092800	Enhancers	Brain Germinal Matrix	brain
8	chr6:81092400-81093000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:81092600-81093000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:81092600-81093000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:81092600-81093000	Enhancers	HSMM	muscle
12	chr6:81092600-81093000	Enhancers	NHDF-Ad	bronchial
13	chr6:81093000-81100800	Weak transcription	HSMM	muscle
14	chr6:81096600-81105200	Weak transcription	Brain Substantia Nigra	brain
15	chr6:81096800-81103800	Weak transcription	Right Ventricle	heart
16	chr6:81097400-81103000	Weak transcription	Left Ventricle	heart
17	chr6:81097600-81098400	Weak transcription	Pancreas	Pancrea
18	chr6:81097600-81103000	Weak transcription	Aorta	Aorta
19	chr6:81097800-81104200	Weak transcription	Liver	Liver
20	chr6:81098200-81105400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:81098400-81099800	Strong transcription	Pancreas	Pancrea
22	chr6:81098600-81101000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:81099800-81101000	Weak transcription	Pancreas	Pancrea
24	chr6:81100600-81101200	ZNF genes & repeats	Ovary	ovary
25	chr6:81101000-81101200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:81101000-81101400	Enhancers	H9 Cell Line	embryonic stem cell
27	chr6:81101000-81101400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr6:81101000-81101400	ZNF genes & repeats	Pancreas	Pancrea
29	chr6:81101000-81101600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr6:81101000-81101600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:81101600-81103200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:81103000-81103400	ZNF genes & repeats	Aorta	Aorta
33	chr6:81103000-81103400	ZNF genes & repeats	Left Ventricle	heart
34	chr6:81103000-81103400	ZNF genes & repeats	Pancreas	Pancrea
35	chr6:81103200-81103400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:81103200-81103400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
37	chr6:81103400-81105000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:81103400-81105400	Weak transcription	Pancreas	Pancrea
39	chr6:81103800-81104400	Weak transcription	Primary T cells from cord blood	blood
40	chr6:81103800-81105400	Weak transcription	Psoas Muscle	Psoas
41	chr6:81104000-81104400	Weak transcription	Fetal Stomach	stomach
42	chr6:81104200-81104600	ZNF genes & repeats	Liver	Liver
43	chr6:81104400-81104600	Enhancers	Fetal Stomach	stomach
44	chr6:81104600-81105400	Weak transcription	Fetal Stomach	stomach
45	chr6:81104600-81107000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:81104800-81106400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
47	chr6:81105000-81106000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:81105200-81106000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:81105400-81105600	ZNF genes & repeats	Psoas Muscle	Psoas
50	chr6:81105400-81105800	ZNF genes & repeats	Fetal Stomach	stomach

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