Variant report

Variant	nsv878536
Chromosome Location	chr4:7102597-7142868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:959)
CpG islands
(count:1224)
Chromatin interactive
region (count:40)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:959 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr4:7122098-7122348	K562	blood:	n/a	n/a
2	BACH1	chr4:7105314-7105465	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr4:7133556-7133887	GM12878	blood:	n/a	n/a
4	BCL3	chr4:7135011-7135294	GM12878	blood:	n/a	n/a
5	BCL3	chr4:7133549-7133962	GM12878	blood:	n/a	n/a
6	BHLHE40	chr4:7105336-7105646	K562	blood:	n/a	n/a
7	BHLHE40	chr4:7126714-7127101	K562	blood:	n/a	n/a
8	BHLHE40	chr4:7104815-7104956	K562	blood:	n/a	n/a
9	BHLHE40	chr4:7107217-7107412	K562	blood:	n/a	n/a
10	BHLHE40	chr4:7103753-7104166	GM12878	blood:	n/a	n/a
11	BHLHE40	chr4:7129458-7129606	K562	blood:	n/a	n/a
12	BHLHE40	chr4:7103743-7104167	K562	blood:	n/a	n/a
13	BHLHE40	chr4:7105183-7105776	HepG2	liver:	n/a	n/a
14	BHLHE40	chr4:7129826-7130186	K562	blood:	n/a	chr4:7130017-7130026
15	BRCA1	chr4:7105407-7105588	HepG2	liver:	n/a	n/a
16	BRCA1	chr4:7105871-7105910	HepG2	liver:	n/a	n/a
17	CBX3	chr4:7134685-7135077	K562	blood:	n/a	n/a
18	CBX3	chr4:7134741-7135064	K562	blood:	n/a	n/a
19	CCNT2	chr4:7104691-7105294	K562	blood:	n/a	n/a
20	CEBPB	chr4:7108265-7108459	K562	blood:	n/a	chr4:7108367-7108378
21	CEBPB	chr4:7127770-7128098	K562	blood:	n/a	chr4:7127957-7127968
22	CEBPB	chr4:7108245-7108467	IMR90	lung:	n/a	chr4:7108367-7108378
23	CEBPB	chr4:7127867-7128099	HepG2	liver:	n/a	chr4:7127957-7127968
24	CEBPB	chr4:7126425-7126668	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr4:7108227-7108494	HepG2	liver:	n/a	chr4:7108367-7108378
26	CEBPB	chr4:7126761-7127241	IMR90	lung:	n/a	chr4:7127078-7127089
27	CEBPB	chr4:7127760-7128075	K562	blood:	n/a	chr4:7127957-7127968
28	CEBPB	chr4:7124201-7124223	K562	blood:	n/a	chr4:7124210-7124223
29	CEBPD	chr4:7103881-7104207	HepG2	liver:	n/a	n/a
30	CEBPD	chr4:7104915-7105175	HepG2	liver:	n/a	n/a
31	CHD2	chr4:7122096-7122393	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr4:7104819-7105480	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr4:7105020-7105542	HepG2	liver:	n/a	n/a
34	CHD2	chr4:7104789-7104974	K562	blood:	n/a	n/a
35	CHD2	chr4:7122140-7122405	K562	blood:	n/a	n/a
36	CHD2	chr4:7104986-7105031	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr4:7104884-7105175	A549	lung:	n/a	n/a
38	CTCF	chr4:7103711-7104068	GM12891	blood:	n/a	n/a
39	CTCF	chr4:7104620-7104770	GM12874	blood:	n/a	n/a
40	CTCF	chr4:7103880-7104030	Caco-2	colon:	n/a	n/a
41	CTCF	chr4:7104148-7104292	GM19239	blood:	n/a	n/a
42	CTCF	chr4:7126873-7127019	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr4:7132377-7133247	GM19239	blood:	n/a	n/a
44	CTCF	chr4:7103778-7104022	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr4:7128038-7128370	K562	blood:	n/a	n/a
46	CTCF	chr4:7104800-7104950	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr4:7135600-7135750	K562	blood:	n/a	n/a
48	CTCF	chr4:7133360-7133758	GM19239	blood:	n/a	n/a
49	CTCF	chr4:7104136-7104231	GM12891	blood:	n/a	n/a
50	CTCF	chr4:7103880-7104030	GM12873	blood:	n/a	n/a

(count:1224 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:7105272-7105322	GM12878	blood:	n/a
2	chr4:7105262-7105312	HUVEC	blood vessel:	n/a
3	chr4:7131247-7131297	SK-N-SH	brain:	n/a
4	chr4:7106195-7106245	PrEC	prostate:	n/a
5	chr4:7105272-7105322	GM12878	blood:	n/a
6	chr4:7105262-7105312	HUVEC	blood vessel:	n/a
7	chr4:7131247-7131297	SK-N-SH	brain:	n/a
8	chr4:7106195-7106245	PrEC	prostate:	n/a
9	chr4:7114046-7114096	GM12878	blood:	n/a
10	chr4:7104195-7104245	BE2_C	brain:	n/a
11	chr4:7105573-7105623	NH-A	brain:	n/a
12	chr4:7131478-7131528	AG09309	skin:	n/a
13	chr4:7129440-7129490	HAEpiC	amniotic membrane:	n/a
14	chr4:7105115-7105165	AoSMC	blood vessel:	n/a
15	chr4:7129517-7129567	ovcar-3	ovarian:	n/a
16	chr4:7131478-7131528	SAEC	small airway:	n/a
17	chr4:7131061-7131111	GM12878	blood:	n/a
18	chr4:7131136-7131186	PFSK-1	brain:	n/a
19	chr4:7131061-7131111	HEK293	kidney:	embryo
20	chr4:7114046-7114096	SK-N-MC	brain:	n/a
21	chr4:7131061-7131111	MCF-7	breast:	n/a
22	chr4:7131478-7131528	GM12891	blood:	n/a
23	chr4:7105272-7105322	HNPCEpiC	eye:	n/a
24	chr4:7106023-7106073	PANC-1	pancreas:	n/a
25	chr4:7106023-7106073	GM12891	blood:	n/a
26	chr4:7131061-7131111	NHBE	bronchial:	n/a
27	chr4:7114012-7114062	PFSK-1	brain:	n/a
28	chr4:7129517-7129567	PrEC	prostate:	n/a
29	chr4:7114046-7114096	AG04449	skin:	fetal
30	chr4:7114046-7114096	HNPCEpiC	eye:	n/a
31	chr4:7129517-7129567	LNCaP	prostate:	n/a
32	chr4:7137270-7137320	HCT-116	colon:	n/a
33	chr4:7129440-7129490	ProgFib	skin:	n/a
34	chr4:7131061-7131111	HL-60	blood:	n/a
35	chr4:7131478-7131528	ProgFib	skin:	n/a
36	chr4:7114046-7114096	HCF	heart:	n/a
37	chr4:7131478-7131528	NB4	blood:	n/a
38	chr4:7129517-7129567	PFSK-1	brain:	n/a
39	chr4:7104897-7104947	BJ	skin:	n/a
40	chr4:7105115-7105165	PANC-1	pancreas:	n/a
41	chr4:7137270-7137320	AG04449	skin:	fetal
42	chr4:7114046-7114096	ovcar-3	ovarian:	n/a
43	chr4:7126882-7126932	Caco-2	colon:	n/a
44	chr4:7126882-7126932	CMK	blood:	n/a
45	chr4:7126882-7126932	NB4	blood:	n/a
46	chr4:7137270-7137320	CMK	blood:	n/a
47	chr4:7105262-7105312	HRE	kidney:	n/a
48	chr4:7126882-7126932	GM06990	blood:	n/a
49	chr4:7131403-7131453	BE2_C	brain:	n/a
50	chr4:7105573-7105623	NHDF-neo	bronchial:	n/a

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7137877..7139888-chr4:7141542..7144010,2	K562	blood:
2	chr4:7103913..7106622-chr4:7111535..7115141,3	K562	blood:
3	chr4:7137877..7139888-chr4:7141542..7144010,2	K562	blood:
4	chr4:7127382..7129975-chr4:7130114..7132149,2	MCF-7	breast:
5	chr4:6783899..6786313-chr4:7103315..7105730,2	K562	blood:
6	chr4:7103913..7106622-chr4:7111535..7115141,3	K562	blood:
7	chr4:7115313..7118277-chr4:7121147..7123527,2	MCF-7	breast:
8	chr4:7120740..7122988-chr4:7129086..7130661,2	MCF-7	breast:
9	chr4:7127382..7129975-chr4:7130114..7132149,2	MCF-7	breast:
10	chr4:7124347..7127288-chr4:7130183..7132382,4	K562	blood:
11	chr4:7067941..7072292-chr4:7099619..7103393,4	MCF-7	breast:
12	chr4:7115313..7118277-chr4:7121147..7123527,2	MCF-7	breast:
13	chr4:7105423..7108283-chr4:7118442..7120103,2	MCF-7	breast:
14	chr4:7105809..7107677-chr4:7109830..7111435,2	K562	blood:
15	chr4:7043790..7046279-chr4:7102506..7105292,2	K562	blood:
16	chr4:7105147..7106911-chr4:7141540..7143652,2	K562	blood:
17	chr4:7125529..7126029-chr6:30710536..30711392,2	Hela-S3	cervix:
18	chr4:7139914..7141449-chr4:7146735..7149339,2	MCF-7	breast:
19	chr4:7103913..7105517-chr4:7112314..7115141,2	K562	blood:
20	chr4:7103774..7104291-chr4:7158329..7158835,2	MCF-7	breast:
21	chr4:7137877..7139569-chr4:7141210..7143042,2	K562	blood:
22	chr4:7121664..7124511-chr4:7134767..7137572,2	K562	blood:
23	chr4:7137877..7139569-chr4:7141210..7143042,2	K562	blood:
24	chr4:7114517..7116267-chr4:7117721..7119678,2	K562	blood:
25	chr4:7098558..7101540-chr4:7102623..7104219,2	MCF-7	breast:
26	chr4:7141966..7143676-chr4:7149053..7151015,2	MCF-7	breast:
27	chr4:7136644..7138277-chr4:7150802..7153276,2	MCF-7	breast:
28	chr4:7121664..7124511-chr4:7134767..7137572,2	K562	blood:
29	chr4:7077408..7080531-chr4:7105216..7108085,3	K562	blood:
30	chr4:7103913..7105517-chr4:7112314..7115141,2	K562	blood:
31	chr4:7103610..7105955-chr4:7121635..7124295,2	K562	blood:
32	chr4:7105147..7106911-chr4:7141540..7143652,2	K562	blood:
33	chr4:7139362..7141199-chr4:7148526..7151413,2	K562	blood:
34	chr4:7105423..7108283-chr4:7118442..7120103,2	MCF-7	breast:
35	chr4:7120740..7122988-chr4:7129086..7130661,2	MCF-7	breast:
36	chr4:7106689..7108245-chr4:7109405..7112071,2	MCF-7	breast:
37	chr4:7105809..7107677-chr4:7109830..7111435,2	K562	blood:
38	chr4:7106689..7108245-chr4:7109405..7112071,2	MCF-7	breast:
39	chr4:7124347..7127288-chr4:7130183..7132382,4	K562	blood:
40	chr4:7114517..7116267-chr4:7117721..7119678,2	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRPEL1-1	chr4:7104995-7105056	ENSG00000245562
2	lnc-GRPEL1-2	chr4:7132607-7132626	XLOC_003873
3	lnc-GRPEL1-1	chr4:7104995-7105103	XLOC_003872
4	lnc-GRPEL1-1	chr4:7104995-7105139	NONHSAT095046
5	lnc-GRPEL1-2	chr4:7132819-7133131	XLOC_003873
6	lnc-GRPEL1-2	chr4:7132540-7133055	NONHSAT095050
7	lnc-GRPEL1-1	chr4:7102967-7105112	ENSG00000245468
8	lnc-GRPEL1-2	chr4:7133632-7133655	NONHSAT095050
9	lnc-GRPEL1-1	chr4:7104995-7105107	ENSG00000245562
10	lnc-GRPEL1-1	chr4:7104995-7105186	XLOC_003872
11	lnc-GRPEL1-5	chr4:7142541-7142755	NONHSAT095052
12	lnc-GRPEL1-5	chr4:7142852-7143049	NONHSAT095052

No data

Variant related genes	Relation type
ENSG00000245468	TF binding region
RN7SKP36	TF binding region
ENSG00000245468	CpG island
RN7SKP36	CpG island
ENSG00000173013	chromatin interactions
ENSG00000272273	chromatin interactions
ENSG00000173011	chromatin interactions
ENSG00000245468	chromatin interactions
ENSG00000200867	chromatin interactions
ENSG00000109519	chromatin interactions
ENSG00000170871	chromatin interactions
KDELC2	miRNA target sites
SPIN4	miRNA target sites
RIOK3	miRNA target sites
RBM19	miRNA target sites

Extended variants
information (count: 2010 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2010 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386671150	chr4:7102597-7102598	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs370381909	chr4:7102611-7102612	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs373162536	chr4:7102645-7102646	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs143112975	chr4:7102684-7102685	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs59299170	chr4:7102760-7102761	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs571922583	chr4:7102765-7102766	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs55699025	chr4:7102826-7102827	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs140325394	chr4:7102860-7102861	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs150217847	chr4:7102865-7102866	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs554354837	chr4:7102937-7102938	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs113978738	chr4:7102944-7102945	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs543241881	chr4:7102958-7102959	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs113811831	chr4:7103032-7103033	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs576640897	chr4:7103041-7103042	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs543714630	chr4:7103101-7103102	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs145651668	chr4:7103167-7103168	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs58590543	chr4:7103189-7103190	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs532810459	chr4:7103202-7103203	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs551049564	chr4:7103221-7103222	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs114868732	chr4:7103297-7103298	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs527471439	chr4:7103319-7103320	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
22	rs113955367	chr4:7103414-7103415	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs141826187	chr4:7103429-7103430	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs59635181	chr4:7103432-7103433	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs201825712	chr4:7103436-7103437	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs201046881	chr4:7103441-7103442	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs181681070	chr4:7103452-7103453	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs75399670	chr4:7103466-7103467	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs6837966	chr4:7103479-7103480	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs35177489	chr4:7103533-7103534	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs115488754	chr4:7103551-7103552	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs539076802	chr4:7103553-7103554	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs367554393	chr4:7103579-7103580	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs113899218	chr4:7103598-7103599	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs58189621	chr4:7103641-7103642	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs572532361	chr4:7103647-7103648	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs536361588	chr4:7103657-7103658	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs555103384	chr4:7103671-7103672	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs576564243	chr4:7103703-7103704	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs186169517	chr4:7103812-7103813	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs576200206	chr4:7103818-7103819	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs567259427	chr4:7103820-7103821	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs369847655	chr4:7103834-7103835	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs200063433	chr4:7103842-7103843	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs397810591	chr4:7103843-7103844	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs544630934	chr4:7103873-7103874	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs114315057	chr4:7103891-7103892	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs111986826	chr4:7104009-7104010	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
49	rs190489562	chr4:7104065-7104066	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
50	rs56140231	chr4:7104093-7104094	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:938 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7091600-7103600	Weak transcription	Brain Angular Gyrus	brain
2	chr4:7092000-7103600	Weak transcription	Aorta	Aorta
3	chr4:7092000-7103600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:7098000-7103400	Weak transcription	Ovary	ovary
5	chr4:7098200-7103600	Weak transcription	Fetal Brain Male	brain
6	chr4:7100000-7103200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:7100600-7103800	Weak transcription	HSMMtube	muscle
8	chr4:7101200-7103200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:7101800-7103200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr4:7102000-7103000	Weak transcription	Brain Substantia Nigra	brain
11	chr4:7102000-7103200	Weak transcription	Fetal Brain Female	brain
12	chr4:7102000-7103400	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:7102000-7103600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:7103000-7103600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:7103000-7103600	Enhancers	Primary B cells from peripheral blood	blood
16	chr4:7103000-7103600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr4:7103000-7103600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr4:7103000-7103600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr4:7103000-7103600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr4:7103000-7103600	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr4:7103000-7103600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:7103000-7103600	Enhancers	Brain Substantia Nigra	brain
23	chr4:7103000-7103600	Enhancers	Thymus	Thymus
24	chr4:7103000-7103800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr4:7103000-7104600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:7103000-7104600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:7103000-7104600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:7103200-7103400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
29	chr4:7103200-7103400	Bivalent/Poised TSS	GM12878-XiMat	blood
30	chr4:7103200-7103400	Flanking Active TSS	HSMM	muscle
31	chr4:7103200-7103600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr4:7103200-7103600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:7103200-7103600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr4:7103200-7103600	Enhancers	Primary T cells from cord blood	blood
35	chr4:7103200-7103600	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr4:7103200-7103600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr4:7103200-7103600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:7103200-7103600	Enhancers	Brain Anterior Caudate	brain
39	chr4:7103200-7103600	Enhancers	Brain Cingulate Gyrus	brain
40	chr4:7103200-7103600	Enhancers	Fetal Brain Female	brain
41	chr4:7103200-7103600	Enhancers	Fetal Stomach	stomach
42	chr4:7103200-7103600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr4:7103200-7104000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr4:7103200-7104000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr4:7103200-7104000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr4:7103200-7105400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
47	chr4:7103400-7103600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr4:7103400-7103600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr4:7103400-7103600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr4:7103400-7103600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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