Variant report

Variant	esv2759514
Chromosome Location	chr7:16236162-16527390
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2558)
CpG islands
(count:2690)
Chromatin interactive
region (count:253)
LncRNA
region (count:49)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2558 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:16471381-16472335	K562	blood:	n/a	n/a
2	ARID3A	chr7:16300636-16301991	K562	blood:	n/a	n/a
3	ARID3A	chr7:16249884-16249963	K562	blood:	n/a	n/a
4	ARID3A	chr7:16460669-16460758	K562	blood:	n/a	n/a
5	ARID3A	chr7:16439551-16439741	HepG2	liver:	n/a	n/a
6	ARID3A	chr7:16299684-16300431	K562	blood:	n/a	n/a
7	ARID3A	chr7:16308350-16309290	K562	blood:	n/a	n/a
8	ARID3A	chr7:16457669-16457783	K562	blood:	n/a	n/a
9	ARID3A	chr7:16495363-16495428	K562	blood:	n/a	n/a
10	ARID3A	chr7:16304739-16305925	K562	blood:	n/a	n/a
11	ARID3A	chr7:16471884-16472097	HepG2	liver:	n/a	n/a
12	ARID3A	chr7:16315775-16315950	K562	blood:	n/a	n/a
13	ARID3A	chr7:16307063-16308041	K562	blood:	n/a	n/a
14	ARID3A	chr7:16358762-16358838	K562	blood:	n/a	n/a
15	ARID3A	chr7:16460094-16460425	K562	blood:	n/a	n/a
16	ARID3A	chr7:16316566-16316667	K562	blood:	n/a	n/a
17	ARID3A	chr7:16459362-16459750	K562	blood:	n/a	n/a
18	ARID3A	chr7:16505139-16505775	K562	blood:	n/a	n/a
19	ARID3A	chr7:16461914-16463016	K562	blood:	n/a	chr7:16462172-16462188
20	ARID3A	chr7:16524530-16524826	HepG2	liver:	n/a	n/a
21	ARID3A	chr7:16395882-16396058	K562	blood:	n/a	n/a
22	ARID3A	chr7:16302411-16302607	K562	blood:	n/a	n/a
23	ARID3A	chr7:16299083-16299409	K562	blood:	n/a	n/a
24	ARID3A	chr7:16503037-16504167	K562	blood:	n/a	n/a
25	ARID3A	chr7:16473205-16473834	K562	blood:	n/a	n/a
26	ARID3A	chr7:16511670-16511947	HepG2	liver:	n/a	n/a
27	ARID3A	chr7:16461163-16461514	K562	blood:	n/a	n/a
28	ARID3A	chr7:16252388-16252536	K562	blood:	n/a	n/a
29	ARID3A	chr7:16514797-16514866	K562	blood:	n/a	n/a
30	ARID3A	chr7:16456572-16456868	K562	blood:	n/a	n/a
31	ATF1	chr7:16505212-16505815	K562	blood:	n/a	n/a
32	ATF1	chr7:16429321-16429351	K562	blood:	n/a	n/a
33	ATF1	chr7:16308377-16309311	K562	blood:	n/a	n/a
34	ATF1	chr7:16468387-16468718	K562	blood:	n/a	n/a
35	ATF1	chr7:16462512-16463042	K562	blood:	n/a	n/a
36	ATF1	chr7:16301437-16301703	K562	blood:	n/a	n/a
37	ATF1	chr7:16416812-16417091	K562	blood:	n/a	n/a
38	ATF1	chr7:16524430-16524691	K562	blood:	n/a	n/a
39	ATF1	chr7:16266719-16266733	K562	blood:	n/a	n/a
40	ATF1	chr7:16304760-16305221	K562	blood:	n/a	n/a
41	ATF1	chr7:16451661-16451777	K562	blood:	n/a	n/a
42	ATF1	chr7:16385921-16386215	K562	blood:	n/a	n/a
43	ATF1	chr7:16456591-16456804	K562	blood:	n/a	n/a
44	ATF1	chr7:16387453-16387736	K562	blood:	n/a	n/a
45	ATF1	chr7:16300049-16300351	K562	blood:	n/a	n/a
46	ATF1	chr7:16471797-16472094	K562	blood:	n/a	n/a
47	ATF3	chr7:16308269-16309108	K562	blood:	n/a	n/a
48	BACH1	chr7:16316614-16316635	K562	blood:	n/a	n/a
49	BACH1	chr7:16441300-16441318	H1-hESC	embryonic stem cell:	n/a	n/a
50	BACH1	chr7:16328920-16329240	K562	blood:	n/a	n/a

(count:2690 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:16437298-16437348	NH-A	brain:	n/a
2	chr7:16438851-16438901	HNPCEpiC	eye:	n/a
3	chr7:16436998-16437048	HepG2	liver:	n/a
4	chr7:16460779-16460829	CMK	blood:	n/a
5	chr7:16501619-16501669	T-47D	breast:	n/a
6	chr7:16460435-16460485	HCPEpiC	choroid plexus:	n/a
7	chr7:16437298-16437348	NH-A	brain:	n/a
8	chr7:16438851-16438901	HNPCEpiC	eye:	n/a
9	chr7:16436998-16437048	HepG2	liver:	n/a
10	chr7:16460779-16460829	CMK	blood:	n/a
11	chr7:16501619-16501669	T-47D	breast:	n/a
12	chr7:16460435-16460485	HCPEpiC	choroid plexus:	n/a
13	chr7:16505589-16505639	MCF10A-Er-Src	breast:	n/a
14	chr7:16505617-16505667	BJ	skin:	n/a
15	chr7:16461062-16461112	GM12892	blood:	n/a
16	chr7:16460779-16460829	Hela-S3	cervix:	n/a
17	chr7:16437447-16437497	NH-A	brain:	n/a
18	chr7:16462463-16462513	MCF10A-Er-Src	breast:	n/a
19	chr7:16460965-16461015	HRCEpiC	kidney:	n/a
20	chr7:16438394-16438444	HCPEpiC	choroid plexus:	n/a
21	chr7:16460965-16461015	RPTEC	kidney:	n/a
22	chr7:16438316-16438366	MCF10A-Er-Src	breast:	n/a
23	chr7:16505409-16505459	SK-N-SH_RA	brain:	n/a
24	chr7:16505592-16505642	BJ	skin:	n/a
25	chr7:16461064-16461114	AG04450	lung:	fetal
26	chr7:16464635-16464685	NHBE	bronchial:	n/a
27	chr7:16505664-16505714	HEK293	kidney:	embryo
28	chr7:16501619-16501669	U87	brain:	n/a
29	chr7:16438394-16438444	HIPEpiC	eye:	n/a
30	chr7:16438075-16438125	ProgFib	skin:	n/a
31	chr7:16438465-16438515	NHBE	bronchial:	n/a
32	chr7:16439534-16439584	SKMC	muscle:	n/a
33	chr7:16506521-16506571	AoSMC	blood vessel:	n/a
34	chr7:16505589-16505639	U87	brain:	n/a
35	chr7:16438702-16438752	SK-N-MC	brain:	n/a
36	chr7:16439847-16439897	IMR90	lung:	fetal
37	chr7:16438465-16438515	K562	blood:	n/a
38	chr7:16505664-16505714	HAEpiC	amniotic membrane:	n/a
39	chr7:16439847-16439897	HCM	heart:	n/a
40	chr7:16459464-16459514	HCF	heart:	n/a
41	chr7:16505589-16505639	AG04449	skin:	fetal
42	chr7:16460435-16460485	ovcar-3	ovarian:	n/a
43	chr7:16439993-16440043	HCPEpiC	choroid plexus:	n/a
44	chr7:16439254-16439304	HIPEpiC	eye:	n/a
45	chr7:16505409-16505459	AG04449	skin:	fetal
46	chr7:16437447-16437497	SK-N-SH_RA	brain:	n/a
47	chr7:16505617-16505667	NB4	blood:	n/a
48	chr7:16439993-16440043	SKMC	muscle:	n/a
49	chr7:16439534-16439584	HRCEpiC	kidney:	n/a
50	chr7:16461077-16461127	HRPEpiC	eye:	n/a

(count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr7:16328237..16331121-chr7:16335386..16337666,3	K562	blood:
2	chr7:16161067..16163627-chr7:16461364..16462917,2	K562	blood:
3	chr7:16446305..16449837-chr7:16459881..16462752,5	MCF-7	breast:
4	chr7:16406566..16408387-chr7:16416040..16418438,2	K562	blood:
5	chr7:16272248..16274869-chr7:16305157..16307096,2	K562	blood:
6	chr7:16375946..16378002-chr7:16389862..16391543,2	MCF-7	breast:
7	chr7:16433382..16436329-chr7:16629318..16633087,3	K562	blood:
8	chr7:16429864..16431992-chr7:16432066..16434396,2	K562	blood:
9	chr7:16304631..16307990-chr7:16437547..16440554,3	K562	blood:
10	chr7:16328237..16331121-chr7:16335386..16337666,3	K562	blood:
11	chr7:16381261..16383873-chr7:16387372..16389637,2	K562	blood:
12	chr7:16474055..16476846-chr7:16478477..16481176,2	K562	blood:
13	chr7:16382268..16383861-chr7:16437645..16440357,2	K562	blood:
14	chr7:16317326..16322342-chr7:16324212..16328939,6	K562	blood:
15	chr7:16404670..16406505-chr7:16408648..16410407,2	MCF-7	breast:
16	chr7:16448885..16451156-chr7:16453310..16455004,2	MCF-7	breast:
17	chr7:16460318..16460856-chr9:132718251..132719193,2	NB4	blood:
18	chr7:16358608..16360256-chr7:16374793..16376621,2	K562	blood:
19	chr7:16271772..16276074-chr7:16279630..16282231,4	K562	blood:
20	chr7:16402270..16404238-chr7:16406373..16408999,2	K562	blood:
21	chr7:16371339..16372978-chr7:16382400..16384507,2	K562	blood:
22	chr7:16272248..16275452-chr7:16305157..16308165,4	K562	blood:
23	chr7:16475707..16477810-chr7:16493923..16496726,2	K562	blood:
24	chr7:16319990..16321982-chr7:16331383..16333480,3	K562	blood:
25	chr7:16456001..16461931-chr7:16682283..16687700,6	K562	blood:
26	chr7:16325178..16329293-chr7:16335508..16338297,3	K562	blood:
27	chr7:16438588..16440667-chr7:16440672..16442750,2	K562	blood:
28	chr7:16510217..16512329-chr7:16516477..16519268,2	K562	blood:
29	chr7:16406566..16408387-chr7:16416040..16418438,2	K562	blood:
30	chr7:16154506..16156134-chr7:16470584..16472097,2	MCF-7	breast:
31	chr7:16343653..16345575-chr7:16349935..16352190,3	K562	blood:
32	chr7:16371339..16372978-chr7:16382400..16384507,2	K562	blood:
33	chr7:16430102..16432686-chr7:16459442..16462077,2	MCF-7	breast:
34	chr7:16263097..16266771-chr7:16270720..16274586,3	K562	blood:
35	chr7:16471505..16472469-chr7:16603743..16605144,6	K562	blood:
36	chr7:16468224..16469938-chr7:16474022..16476641,2	K562	blood:
37	chr7:16473934..16476388-chr7:16667166..16670049,2	K562	blood:
38	chr7:16470473..16472842-chr7:16474555..16477082,2	K562	blood:
39	chr7:16467203..16469517-chr7:16495684..16498438,2	K562	blood:
40	chr7:16470473..16472842-chr7:16474555..16477082,2	K562	blood:
41	chr1:27971742..27974518-chr7:16485125..16487982,2	MCF-7	breast:
42	chr7:16332474..16335082-chr7:16341108..16343730,3	K562	blood:
43	chr7:16444286..16446056-chr7:16454023..16455999,2	K562	blood:
44	chr7:16451377..16453700-chr7:16455359..16457041,2	MCF-7	breast:
45	chr7:16427726..16430162-chr7:16435410..16438091,2	MCF-7	breast:
46	chr7:16329930..16331923-chr7:16630143..16632289,2	K562	blood:
47	chr7:16263097..16266771-chr7:16270720..16274586,3	K562	blood:
48	chr7:16443928..16446056-chr7:16453024..16455999,2	K562	blood:
49	chr7:16271837..16274588-chr7:16275186..16279473,3	K562	blood:
50	chr7:16526991..16528708-chr7:16530657..16533220,2	K562	blood:

(count:49 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC006035.2-6	chr7:16248570-16248890	NONHSAT119291
2	lnc-AC006035.2-1	chr7:16276934-16276977	NONHSAT119292
3	lnc-AC006035.2-1	chr7:16276934-16277035	NONHSAT119295
4	lnc-AC006035.2-1	chr7:16287510-16287714	ENSG00000229688.3
5	lnc-AC006035.2-1	chr7:16250111-16250228	NONHSAT119292
6	lnc-AC006035.2-1	chr7:16305852-16305936	NONHSAT119293
7	lnc-AC006035.2-1	chr7:16276934-16277038	NONHSAT119294
8	lnc-AC006035.2-1	chr7:16301527-16301721	NONHSAT119294
9	lnc-AC006035.2-1	chr7:16305852-16305936	NONHSAT119295
10	lnc-AC006035.2-1	chr7:16268049-16268246	ucscGeneNc_uc003stf_2
11	lnc-AC006035.2-1	chr7:16276934-16277038	NONHSAT119293
12	lnc-AC006035.2-1	chr7:16308482-16310229	NONHSAT119294
13	lnc-AC006035.2-1	chr7:16276934-16276977	ENSG00000229688
14	lnc-AC006035.2-1	chr7:16275527-16275604	NONHSAT119295
15	lnc-AC006035.2-1	chr7:16275527-16275604	NONHSAT119292
16	lnc-AC006035.2-1	chr7:16308482-16310229	ENSG00000229688
17	lnc-AC006035.2-1	chr7:16250169-16250228	ENSG00000229688
18	lnc-AC006035.2-1	chr7:16308482-16310229	NONHSAT119293
19	lnc-AC006035.2-1	chr7:16301524-16301721	ENSG00000229688
20	lnc-AC006035.2-1	chr7:16308482-16309502	NONHSAT119295
21	lnc-AC006035.2-1	chr7:16305852-16305936	NONHSAT119294
22	lnc-AC006035.2-1	chr7:16250118-16250228	NONHSAT119294
23	lnc-AC006035.2-1	chr7:16243459-16243563	ucscGeneNc_uc003stf_2
24	lnc-AC006035.2-1	chr7:16305852-16305936	ENSG00000229688
25	lnc-AC006035.2-1	chr7:16250167-16250228	ENSG00000229688.3
26	lnc-AC006035.2-1	chr7:16250113-16250228	ENSG00000229688
27	lnc-AC006035.2-1	chr7:16310630-16310643	NONHSAT119294
28	lnc-AC006035.2-1	chr7:16250130-16250228	NONHSAT119295
29	lnc-AC006035.2-1	chr7:16276934-16277031	ENSG00000229688.3
30	lnc-AC006035.2-1	chr7:16272377-16272461	ucscGeneNc_uc003stf_2
31	lnc-AC006035.2-1	chr7:16255958-16256194	ENSG00000229688.3
32	lnc-AC006035.2-1	chr7:16305852-16305936	NONHSAT119292
33	lnc-AC006035.2-1	chr7:16305852-16305936	ENSG00000229688
34	lnc-AC006035.2-1	chr7:16301524-16301721	NONHSAT119293
35	lnc-AC006035.2-1	chr7:16310142-16310229	ENSG00000241044
36	lnc-AC006035.2-1	chr7:16276934-16277035	ENSG00000229688.3
37	lnc-AC006035.2-1	chr7:16250130-16250228	NONHSAT119296
38	lnc-AC006035.2-1	chr7:16275527-16275604	ENSG00000229688
39	lnc-AC006035.2-1	chr7:16308874-16309215	ENSG00000241044
40	lnc-AC006035.2-1	chr7:16276934-16277038	ENSG00000229688
41	lnc-AC006035.2-1	chr7:16308482-16308872	ENSG00000229688
42	lnc-AC006035.2-1	chr7:16308482-16309502	NONHSAT119296
43	lnc-AC006035.2-1	chr7:16275007-16276752	ucscGeneNc_uc003stf_2
44	lnc-AC006035.2-1	chr7:16250132-16250228	ENSG00000229688.3
45	lnc-AC006035.2-1	chr7:16305852-16305936	NONHSAT119296
46	lnc-AC006035.2-1	chr7:16308482-16310229	NONHSAT119292
47	lnc-AC006035.2-1	chr7:16288360-16288362	NONHSAT119294
48	lnc-AC006035.2-1	chr7:16256009-16256194	ENSG00000229688.3
49	lnc-AC006035.2-1	chr7:16250111-16250228	NONHSAT119293

No data

Variant related genes	Relation type
RPL36AP29	TF binding region
ENSG00000272537	TF binding region
ISPD-AS1	TF binding region
ISPD	TF binding region
SOSTDC1	TF binding region
RPL36AP29	CpG island
ENSG00000272537	CpG island
ISPD-AS1	CpG island
ISPD	CpG island
SOSTDC1	CpG island
ENSG00000136261	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000224683	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000229688	chromatin interactions
ENSG00000106524	chromatin interactions
ENSG00000272537	chromatin interactions
ENSG00000214960	chromatin interactions
ENSG00000106537	chromatin interactions
ENSG00000171243	chromatin interactions
ENSG00000127870	chromatin interactions
HAS3	miRNA target sites
TTC8	miRNA target sites
SEC63	miRNA target sites
RANBP9	miRNA target sites
GLTP	miRNA target sites
RSRC2	miRNA target sites
DIS3L	miRNA target sites
CDKN1B	miRNA target sites
ERCC4	miRNA target sites
LMLN	miRNA target sites

Extended variants
information (count: 12161 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:12161 , 50 per page) page: 1 2 3 4 5 6 7 ... 244

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17672457	chr7:16236162-16236163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558265568	chr7:16236175-16236176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17672493	chr7:16236184-16236185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs181578087	chr7:16236234-16236235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17616119	chr7:16236276-16236277	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs370956084	chr7:16236285-16236286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533375884	chr7:16236289-16236290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561558217	chr7:16236297-16236298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185346248	chr7:16236319-16236320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114855866	chr7:16236392-16236393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144926906	chr7:16236407-16236408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530206891	chr7:16236414-16236415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147955523	chr7:16236489-16236490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535387300	chr7:16236506-16236507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556721148	chr7:16236509-16236510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149043005	chr7:16236523-16236524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73058562	chr7:16236536-16236537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367566052	chr7:16236555-16236556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552198294	chr7:16236576-16236577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143017272	chr7:16236579-16236580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76827378	chr7:16236590-16236591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569146579	chr7:16236594-16236595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148187045	chr7:16236607-16236608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201135323	chr7:16236652-16236653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529592952	chr7:16236691-16236692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544883324	chr7:16236730-16236731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548369699	chr7:16236756-16236757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563060419	chr7:16236768-16236769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533519569	chr7:16236774-16236775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117801803	chr7:16236775-16236776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190244920	chr7:16236800-16236801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528219038	chr7:16236834-16236835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546166233	chr7:16236844-16236845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181936236	chr7:16236862-16236863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567474857	chr7:16236891-16236892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75887715	chr7:16236939-16236940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77440836	chr7:16236940-16236941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187439631	chr7:16236962-16236963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200498584	chr7:16236986-16236987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535098531	chr7:16237034-16237035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs36045109	chr7:16237052-16237053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189602463	chr7:16237061-16237062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536416654	chr7:16237065-16237066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572530417	chr7:16237066-16237067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116869225	chr7:16237101-16237102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557710975	chr7:16237105-16237106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543165325	chr7:16237126-16237127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10232023	chr7:16237180-16237181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs113463085	chr7:16237197-16237198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561226183	chr7:16237208-16237209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	19805367	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD

Chromatin state (count:1994 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16234000-16236200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:16234000-16238400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:16234400-16238400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:16234400-16238600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:16234800-16244000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:16235200-16236600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:16236200-16237000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:16237000-16238200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:16238200-16239000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:16238400-16239000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:16238400-16239800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:16238600-16238800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr7:16238600-16239000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:16238800-16239000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr7:16238800-16241200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:16239000-16240800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:16239000-16244000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:16239800-16244200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:16240200-16240800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:16240200-16242200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:16240400-16240600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:16240600-16242000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:16240800-16241200	Weak transcription	Left Ventricle	heart
24	chr7:16240800-16241400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr7:16240800-16241400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:16241200-16241400	Enhancers	Left Ventricle	heart
27	chr7:16241200-16241600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr7:16241200-16243200	Enhancers	HUVEC	blood vessel
29	chr7:16241400-16244000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr7:16241400-16244000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:16241400-16256400	Weak transcription	Left Ventricle	heart
32	chr7:16241600-16244400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr7:16242000-16242200	Enhancers	Fetal Heart	heart
34	chr7:16242000-16243200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:16242000-16243400	Enhancers	HMEC	breast
36	chr7:16242000-16243400	Enhancers	NHEK	skin
37	chr7:16242200-16242600	Enhancers	Fetal Lung	lung
38	chr7:16242200-16243200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:16242200-16243200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:16242600-16244000	Weak transcription	Fetal Lung	lung
41	chr7:16242600-16244200	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr7:16242800-16250000	Weak transcription	Gastric	stomach
43	chr7:16243000-16244800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr7:16243400-16245000	Enhancers	Fetal Brain Male	brain
45	chr7:16244000-16244200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:16244000-16244600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr7:16244000-16245400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr7:16244000-16245400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr7:16244000-16245400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr7:16244000-16245600	Enhancers	Fetal Lung	lung

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