Variant report

Variant	nsv4343
Chromosome Location	chr1:209929932-209974877
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1263)
CpG islands
(count:1342)
Chromatin interactive
region (count:69)
LncRNA
region (count:26)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1263 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:209945569-209945736	K562	blood:	n/a	n/a
2	ATF1	chr1:209957683-209958314	K562	blood:	n/a	n/a
3	ATF1	chr1:209964314-209964451	K562	blood:	n/a	n/a
4	ATF2	chr1:209941631-209942217	GM12878	blood:	n/a	n/a
5	ATF2	chr1:209957633-209958519	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr1:209930143-209930708	GM12878	blood:	n/a	n/a
7	ATF2	chr1:209942654-209943198	GM12878	blood:	n/a	n/a
8	ATF2	chr1:209957469-209958435	GM12878	blood:	n/a	n/a
9	ATF2	chr1:209942490-209943373	GM12878	blood:	n/a	n/a
10	ATF2	chr1:209957579-209958367	GM12878	blood:	n/a	n/a
11	ATF2	chr1:209941740-209942168	GM12878	blood:	n/a	n/a
12	ATF2	chr1:209957556-209958343	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr1:209957648-209958313	A549	lung:	n/a	chr1:209957944-209957955 chr1:209957945-209957956 chr1:209957942-209957955 chr1:209957942-209957955 chr1:209957944-209957952 chr1:209957942-209957952 chr1:209957945-209957955 chr1:209957942-209957952 chr1:209957945-209957953 chr1:209957941-209957956 chr1:209957945-209957952 chr1:209957943-209957954 chr1:209957944-209957964 chr1:209957943-209957954
14	ATF3	chr1:209957616-209958135	A549	lung:	n/a	chr1:209957944-209957955 chr1:209957945-209957956 chr1:209957942-209957955 chr1:209957942-209957955 chr1:209957944-209957952 chr1:209957942-209957952 chr1:209957945-209957955 chr1:209957942-209957952 chr1:209957945-209957953 chr1:209957941-209957956 chr1:209957945-209957952 chr1:209957943-209957954 chr1:209957944-209957964 chr1:209957943-209957954
15	ATF3	chr1:209957677-209958179	K562	blood:	n/a	chr1:209957944-209957955 chr1:209957945-209957956 chr1:209957942-209957955 chr1:209957942-209957955 chr1:209957944-209957952 chr1:209957942-209957952 chr1:209957945-209957955 chr1:209957942-209957952 chr1:209957945-209957953 chr1:209957941-209957956 chr1:209957945-209957952 chr1:209957943-209957954 chr1:209957944-209957964 chr1:209957943-209957954
16	BACH1	chr1:209957609-209958583	K562	blood:	n/a	n/a
17	BACH1	chr1:209957488-209958303	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr1:209942577-209943140	GM12878	blood:	n/a	n/a
19	BATF	chr1:209939569-209939767	GM12878	blood:	n/a	n/a
20	BATF	chr1:209940502-209940754	GM12878	blood:	n/a	chr1:209940708-209940717
21	BATF	chr1:209941700-209942072	GM12878	blood:	n/a	n/a
22	BCL11A	chr1:209942763-209943062	GM12878	blood:	n/a	chr1:209942978-209942987
23	BCL11A	chr1:209942717-209943107	GM12878	blood:	n/a	chr1:209942978-209942987
24	BCL3	chr1:209942652-209943193	GM12878	blood:	n/a	chr1:209942978-209942987
25	BCL3	chr1:209957508-209958373	A549	lung:	n/a	chr1:209958008-209958017
26	BCL3	chr1:209941759-209942117	GM12878	blood:	n/a	n/a
27	BCL3	chr1:209957509-209958320	A549	lung:	n/a	chr1:209958008-209958017
28	BCLAF1	chr1:209957553-209958530	GM12878	blood:	n/a	chr1:209958008-209958017
29	BCLAF1	chr1:209941580-209942428	GM12878	blood:	n/a	n/a
30	BCLAF1	chr1:209942673-209943490	GM12878	blood:	n/a	chr1:209942978-209942987 chr1:209943261-209943270
31	BCLAF1	chr1:209942510-209943362	GM12878	blood:	n/a	chr1:209942978-209942987 chr1:209943261-209943270
32	BCLAF1	chr1:209957603-209958359	GM12878	blood:	n/a	chr1:209958008-209958017
33	BCLAF1	chr1:209941572-209942180	GM12878	blood:	n/a	n/a
34	BHLHE40	chr1:209957665-209958449	GM12878	blood:	n/a	n/a
35	BHLHE40	chr1:209939310-209939820	GM12878	blood:	n/a	n/a
36	BHLHE40	chr1:209957542-209958524	K562	blood:	n/a	n/a
37	BHLHE40	chr1:209929950-209930349	GM12878	blood:	n/a	n/a
38	BHLHE40	chr1:209941470-209942192	GM12878	blood:	n/a	n/a
39	BHLHE40	chr1:209939438-209939775	K562	blood:	n/a	n/a
40	BHLHE40	chr1:209942632-209943201	GM12878	blood:	n/a	n/a
41	BRCA1	chr1:209957676-209958227	GM12878	blood:	n/a	n/a
42	BRCA1	chr1:209957778-209958122	HepG2	liver:	n/a	n/a
43	BRCA1	chr1:209957435-209958264	H1-hESC	embryonic stem cell:	n/a	n/a
44	BRCA1	chr1:209942989-209943144	GM12878	blood:	n/a	n/a
45	BRCA1	chr1:209957501-209958507	Hela-S3	cervix:	n/a	n/a
46	CBX3	chr1:209957472-209958679	K562	blood:	n/a	chr1:209957492-209957503
47	CBX3	chr1:209957812-209958587	K562	blood:	n/a	n/a
48	CCNT2	chr1:209957728-209958221	K562	blood:	n/a	n/a
49	CCNT2	chr1:209970165-209970400	K562	blood:	n/a	n/a
50	CEBPB	chr1:209941704-209941929	Hela-S3	cervix:	n/a	chr1:209941761-209941774 chr1:209941763-209941772 chr1:209941763-209941772 chr1:209941761-209941772 chr1:209941763-209941772 chr1:209941762-209941773 chr1:209941761-209941774 chr1:209941763-209941772

(count:1342 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:209957652-209957702	RPTEC	kidney:	n/a
2	chr1:209942066-209942116	NH-A	brain:	n/a
3	chr1:209958035-209958085	NHBE	bronchial:	n/a
4	chr1:209957974-209958024	GM12891	blood:	n/a
5	chr1:209957974-209958024	Caco-2	colon:	n/a
6	chr1:209963840-209963890	HPAEpiC	pulmonary alveolar:	n/a
7	chr1:209956950-209957000	HCM	heart:	n/a
8	chr1:209957618-209957668	CMK	blood:	n/a
9	chr1:209942066-209942116	AG09309	skin:	n/a
10	chr1:209961872-209961922	AG09319	gingival:	n/a
11	chr1:209930127-209930177	RPTEC	kidney:	n/a
12	chr1:209958162-209958212	ECC-1	luminal epithelium:	n/a
13	chr1:209963087-209963137	SAEC	small airway:	n/a
14	chr1:209961872-209961922	SAEC	small airway:	n/a
15	chr1:209957965-209958015	PANC-1	pancreas:	n/a
16	chr1:209957965-209958015	NB4	blood:	n/a
17	chr1:209942066-209942116	HCM	heart:	n/a
18	chr1:209957974-209958024	BE2_C	brain:	n/a
19	chr1:209957618-209957668	HEK293	kidney:	embryo
20	chr1:209957652-209957702	HMEC	breast:	n/a
21	chr1:209957750-209957800	SK-N-SH_RA	brain:	n/a
22	chr1:209958026-209958076	BE2_C	brain:	n/a
23	chr1:209963087-209963137	T-47D	breast:	n/a
24	chr1:209963840-209963890	HNPCEpiC	eye:	n/a
25	chr1:209958035-209958085	SKMC	muscle:	n/a
26	chr1:209958162-209958212	HMEC	breast:	n/a
27	chr1:209957965-209958015	Caco-2	colon:	n/a
28	chr1:209930127-209930177	HCT-116	colon:	n/a
29	chr1:209957974-209958024	HRCEpiC	kidney:	n/a
30	chr1:209957652-209957702	Hela-S3	cervix:	n/a
31	chr1:209963087-209963137	BJ	skin:	n/a
32	chr1:209958162-209958212	IMR90	lung:	fetal
33	chr1:209958162-209958212	Jurkat	blood:	n/a
34	chr1:209963087-209963137	IMR90	lung:	fetal
35	chr1:209958030-209958080	PANC-1	pancreas:	n/a
36	chr1:209942066-209942116	AG09319	gingival:	n/a
37	chr1:209957601-209957651	NHDF-neo	bronchial:	n/a
38	chr1:209958162-209958212	AG09319	gingival:	n/a
39	chr1:209958035-209958085	GM12892	blood:	n/a
40	chr1:209943131-209943181	K562	blood:	n/a
41	chr1:209956950-209957000	HUVEC	blood vessel:	n/a
42	chr1:209957601-209957651	HPAEpiC	pulmonary alveolar:	n/a
43	chr1:209956565-209956615	NT2-D1	testis:	n/a
44	chr1:209930127-209930177	HPAEpiC	pulmonary alveolar:	n/a
45	chr1:209954182-209954232	A549	lung:	n/a
46	chr1:209957974-209958024	MCF10A-Er-Src	breast:	n/a
47	chr1:209956950-209957000	GM06990	blood:	n/a
48	chr1:209961872-209961922	GM12892	blood:	n/a
49	chr1:209958343-209958393	GM06990	blood:	n/a
50	chr1:209954182-209954232	HNPCEpiC	eye:	n/a

(count:69 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:209958606..209961246-chr1:209973550..209976119,2	MCF-7	breast:
2	chr1:209946631..209949857-chr1:209956266..209959109,3	MCF-7	breast:
3	chr1:209955520..209962214-chr1:209976009..209982555,8	K562	blood:
4	chr1:209935010..209937588-chr1:209955355..209957792,2	K562	blood:
5	chr1:209961589..209964126-chr1:209977817..209980811,2	MCF-7	breast:
6	chr1:209957820..209958586-chr4:100871003..100871812,2	Hela-S3	cervix:
7	chr1:209957348..209959526-chr1:209965730..209967837,2	K562	blood:
8	chr1:209968649..209970778-chr1:209979506..209982286,2	K562	blood:
9	chr1:209974477..209976962-chr1:209977891..209979469,2	MCF-7	breast:
10	chr1:28975040..28975849-chr1:209957310..209958006,2	Hela-S3	cervix:
11	chr1:209956289..209959543-chr1:209978892..209981541,4	K562	blood:
12	chr1:209957965..209959806-chr1:209959959..209962744,2	K562	blood:
13	chr1:209937467..209939616-chr1:209957476..209959399,2	K562	blood:
14	chr1:209940429..209942619-chr1:209957623..209959222,2	MCF-7	breast:
15	chr1:209953015..209954990-chr1:209956352..209958315,2	MCF-7	breast:
16	chr1:209940844..209943415-chr1:209955888..209958090,3	K562	blood:
17	chr1:209957348..209959526-chr1:209965730..209967837,2	K562	blood:
18	chr1:209955602..209959674-chr1:209962858..209967873,6	MCF-7	breast:
19	chr1:209961943..209965694-chr1:209969094..209971510,3	K562	blood:
20	chr1:209956612..209959583-chr1:209971561..209974310,2	MCF-7	breast:
21	chr1:209957410..209957938-chr15:44828799..44829767,2	Hela-S3	cervix:
22	chr1:209931478..209933302-chr1:209941660..209944063,2	K562	blood:
23	chr1:209950429..209953463-chr1:209956092..209959569,7	K562	blood:
24	chr1:209943015..209945017-chr1:209946674..209949825,3	K562	blood:
25	chr1:209969439..209971872-chr1:209988283..209991092,2	MCF-7	breast:
26	chr1:209802370..209804993-chr1:209955747..209957464,2	K562	blood:
27	chr1:209921622..209924785-chr1:209954989..209957828,3	MCF-7	breast:
28	chr1:209957184..209957885-chr19:47291566..47292284,2	NB4	blood:
29	chr1:209820434..209823363-chr1:209947209..209948890,2	K562	blood:
30	chr1:209928859..209930982-chr1:209946608..209948650,2	K562	blood:
31	chr1:209950429..209953463-chr1:209956092..209959569,7	K562	blood:
32	chr1:209956959..209959744-chr1:209961355..209963710,2	MCF-7	breast:
33	chr1:209961943..209965694-chr1:209969094..209971510,3	K562	blood:
34	chr1:209931478..209933302-chr1:209941660..209944063,2	K562	blood:
35	chr1:209963000..209964602-chr1:209967269..209969654,2	K562	blood:
36	chr1:209940844..209943415-chr1:209955888..209958090,3	K562	blood:
37	chr1:209947385..209948947-chr1:209955247..209957526,2	MCF-7	breast:
38	chr1:209954505..209956563-chr1:209958183..209960148,2	K562	blood:
39	chr1:209955222..209958022-chr1:210545930..210547914,2	K562	blood:
40	chr1:209955222..209959394-chr1:210545816..210547914,4	K562	blood:
41	chr1:209974237..209976657-chr1:209978058..209981003,3	K562	blood:
42	chr1:209957266..209960368-chr1:209964452..209967778,3	MCF-7	breast:
43	chr1:209958606..209961246-chr1:209973550..209976119,2	MCF-7	breast:
44	chr1:209955696..209959066-chr1:209962236..209965096,3	K562	blood:
45	chr1:209961819..209963516-chr1:209999792..210001663,2	K562	blood:
46	chr1:209957266..209960368-chr1:209964452..209967778,3	MCF-7	breast:
47	chr1:209940429..209942619-chr1:209957623..209959222,2	MCF-7	breast:
48	chr1:209957393..209958342-chr17:56736402..56737021,2	Hela-S3	cervix:
49	chr1:209947985..209951764-chr1:209952095..209954768,3	K562	blood:
50	chr1:209947385..209948947-chr1:209955247..209957526,2	MCF-7	breast:

(count:26 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSD11B1-4	chr1:209943366-209944059	NONHSAT009235
2	lnc-HSD11B1-4	chr1:209944247-209945468	NONHSAT009240
3	lnc-HSD11B1-4	chr1:209944409-209944784	NONHSAT009241
4	lnc-HSD11B1-4	chr1:209943729-209943753	NONHSAT009240
5	lnc-HSD11B1-4	chr1:209943688-209943793	NONHSAT009238
6	lnc-HSD11B1-3	chr1:209955401-209955652	NONHSAT009244
7	lnc-HSD11B1-3	chr1:209951712-209953951	NONHSAT009244
8	lnc-C1orf74-1	chr1:209960324-209960799	ENSG00000232222.1
9	lnc-HSD11B1-4	chr1:209944247-209945468	NONHSAT009238
10	lnc-HSD11B1-4	chr1:209945420-209945499	NONHSAT009236
11	lnc-HSD11B1-4	chr1:209944227-209944789	NONHSAT009236
12	lnc-C1orf74-2	chr1:209943688-209943821	NONHSAT009239
13	lnc-C1orf74-1	chr1:209960924-209961038	ENSG00000232222.1
14	lnc-HSD11B1-4	chr1:209944860-209945499	NONHSAT009242
15	lnc-HSD11B1-3	chr1:209933517-209933729	NONHSAT009232
16	lnc-HSD11B1-4	chr1:209944201-209944669	NONHSAT009242
17	lnc-HSD11B1-4	chr1:209943622-209943813	NONHSAT009237
18	lnc-HSD11B1-3	chr1:209954695-209954803	NONHSAT009244
19	lnc-HSD11B1-4	chr1:209943562-209944045	NONHSAT009236
20	lnc-TRAF3IP3-1	chr1:209929911-209930068	NONHSAT009231
21	lnc-HSD11B1-4	chr1:209943810-209943875	NONHSAT009241
22	lnc-C1orf74-2	chr1:209944455-209945468	NONHSAT009239
23	lnc-HSD11B1-3	chr1:209935860-209935941	NONHSAT009232
24	lnc-HSD11B1-3	chr1:209932379-209932479	NONHSAT009232
25	lnc-HSD11B1-4	chr1:209944421-209944469	NONHSAT009235
26	lnc-HSD11B1-4	chr1:209944790-209945471	NONHSAT009237

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	TRAF3IP3	hsa-miR-192-5p	chr1:209952704-209952724

Variant related genes	Relation type
TRAF3IP3	TF binding region
C1orf74	TF binding region
IRF6	TF binding region
ENSG00000232222	TF binding region
TRAF3IP3	CpG island
C1orf74	CpG island
IRF6	CpG island
ENSG00000232222	CpG island
ENSG00000009790	chromatin interactions
ENSG00000101138	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000200972	chromatin interactions
ENSG00000245322	chromatin interactions
ENSG00000162757	chromatin interactions
ENSG00000232222	chromatin interactions
ENSG00000164032	chromatin interactions
ENSG00000117595	chromatin interactions
ENSG00000104131	chromatin interactions
ENSG00000105281	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000179523	chromatin interactions
ENSG00000087586	chromatin interactions
ENSG00000117597	chromatin interactions
ENSG00000137486	chromatin interactions
FLT1	miRNA target sites
UBE2I	miRNA target sites

Extended variants
information (count: 1748 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1748 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541796717	chr1:209929954-209929955	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs553381359	chr1:209929955-209929956	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs149202330	chr1:209930018-209930019	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs184284764	chr1:209930110-209930111	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs565327384	chr1:209930140-209930141	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs539092716	chr1:209930152-209930153	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs557340718	chr1:209930154-209930155	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs575697739	chr1:209930214-209930215	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs199630010	chr1:209930215-209930216	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs373921043	chr1:209930225-209930226	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs543526860	chr1:209930280-209930281	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs555660449	chr1:209930299-209930300	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs574212963	chr1:209930353-209930354	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs367752583	chr1:209930362-209930363	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs189020566	chr1:209930417-209930418	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs533673089	chr1:209930493-209930494	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs545378471	chr1:209930506-209930507	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs563684754	chr1:209930542-209930543	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs192307980	chr1:209930578-209930579	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs11119336	chr1:209930585-209930586	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs568146026	chr1:209930590-209930591	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs568264746	chr1:209930593-209930594	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs113622644	chr1:209930603-209930604	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs529126944	chr1:209930608-209930609	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs547287006	chr1:209930615-209930616	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs145160998	chr1:209930616-209930617	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs536808701	chr1:209930638-209930639	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs4844893	chr1:209930678-209930679	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184892232	chr1:209930693-209930694	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs909710	chr1:209930694-209930695	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs138991206	chr1:209930708-209930709	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs555481128	chr1:209930717-209930718	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs531300504	chr1:209930729-209930730	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs190389179	chr1:209930774-209930775	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs150301665	chr1:209930782-209930783	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs541569952	chr1:209930793-209930794	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs553616333	chr1:209930826-209930827	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs36045845	chr1:209930857-209930858	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs539883463	chr1:209930948-209930949	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs578240743	chr1:209930979-209930980	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs545734393	chr1:209931024-209931025	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs142255994	chr1:209931051-209931052	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs553389527	chr1:209931065-209931066	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs530968332	chr1:209931096-209931097	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs115693201	chr1:209931097-209931098	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs4844894	chr1:209931129-209931130	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528579039	chr1:209931153-209931154	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs536169482	chr1:209931166-209931167	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs547155431	chr1:209931176-209931177	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs555749911	chr1:209931220-209931221	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1678 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209921400-209930000	Weak transcription	Right Ventricle	heart
2	chr1:209921800-209930000	Weak transcription	Stomach Mucosa	stomach
3	chr1:209921800-209940800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:209921800-209942000	Weak transcription	Pancreas	Pancrea
5	chr1:209922400-209931200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:209928600-209932000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr1:209928600-209932200	Flanking Active TSS	GM12878-XiMat	blood
8	chr1:209928800-209930400	Flanking Active TSS	Dnd41	blood
9	chr1:209928800-209931000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr1:209928800-209932200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr1:209928800-209932400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr1:209929000-209931200	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr1:209929000-209931800	Active TSS	Duodenum Mucosa	Duodenum
14	chr1:209929000-209932000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr1:209929000-209932200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:209929000-209932200	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr1:209929000-209932400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:209929000-209932800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:209929200-209930800	Active TSS	Primary T cells from cord blood	blood
20	chr1:209929200-209931200	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr1:209929200-209931400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:209929200-209931400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr1:209929400-209930000	Enhancers	Gastric	stomach
24	chr1:209929400-209930200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
25	chr1:209929400-209930400	Active TSS	Thymus	Thymus
26	chr1:209929400-209930800	Active TSS	Fetal Thymus	thymus
27	chr1:209929400-209931000	Active TSS	Primary T cells fromperipheralblood	blood
28	chr1:209929400-209931000	Active TSS	Liver	Liver
29	chr1:209929400-209931000	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr1:209929400-209931200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:209929400-209931200	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr1:209929400-209931200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:209929400-209931400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr1:209929400-209931400	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr1:209929400-209931400	Active TSS	Colonic Mucosa	Colon
36	chr1:209929400-209931800	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr1:209929400-209931800	Active TSS	Rectal Smooth Muscle	rectum
38	chr1:209929600-209930000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:209929600-209930000	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr1:209929600-209930400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:209929600-209930400	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr1:209929600-209930400	Enhancers	Lung	lung
43	chr1:209929600-209930600	Active TSS	Brain Hippocampus Middle	brain
44	chr1:209929600-209930800	Active TSS	Small Intestine	intestine
45	chr1:209929600-209931000	Active TSS	Esophagus	oesophagus
46	chr1:209929600-209931000	Active TSS	Spleen	Spleen
47	chr1:209929600-209931200	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr1:209929600-209931400	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr1:209929800-209930000	Active TSS	Fetal Intestine Small	intestine
50	chr1:209929800-209930000	Flanking Active TSS	Placenta	Placenta

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