Variant report

Variant	esv3489278
Chromosome Location	chr8:1921020-1923843
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr8:1921474-1922031	H1-hESC	embryonic stem cell:	n/a	n/a
2	CCNT2	chr8:1921657-1922031	K562	blood:	n/a	n/a
3	CTCF	chr8:1921200-1921350	HPAF	blood vessel:	n/a	chr8:1921313-1921322
4	CTCF	chr8:1921200-1921350	BJ	skin:	n/a	chr8:1921313-1921322
5	CTCF	chr8:1921200-1921350	HPF	lung:	n/a	chr8:1921313-1921322
6	CTCF	chr8:1921460-1921610	SAEC	small airway:	n/a	n/a
7	CTCF	chr8:1921200-1921350	AG09319	gingival:	n/a	chr8:1921313-1921322
8	CTCF	chr8:1921220-1921370	AG09319	gingival:	n/a	chr8:1921313-1921322
9	CTCF	chr8:1921260-1921344	HUVEC	blood vessel:	n/a	chr8:1921313-1921322
10	CTCF	chr8:1921320-1921470	SAEC	small airway:	n/a	n/a
11	CTCF	chr8:1921220-1921370	HRE	kidney:	n/a	chr8:1921313-1921322
12	CTCF	chr8:1921263-1921356	Pancreas_OC	pancreas:	n/a	chr8:1921313-1921322
13	CTCF	chr8:1921020-1921310	RPTEC	kidney:	n/a	chr8:1921079-1921087
14	CTCF	chr8:1921280-1921430	HUVEC	blood vessel:	n/a	chr8:1921313-1921322
15	CTCF	chr8:1921260-1921410	HCM	heart:	n/a	chr8:1921313-1921322
16	CTCF	chr8:1921220-1921370	SK-N-SH_RA	brain:	n/a	chr8:1921313-1921322
17	CTCF	chr8:1921700-1921850	SK-N-SH_RA	brain:	n/a	chr8:1921786-1921799 chr8:1921788-1921798
18	CTCF	chr8:1921160-1921310	NHDF-neo	bronchial:	n/a	n/a
19	CTCF	chr8:1921200-1921350	AG10803	skin:	n/a	chr8:1921313-1921322
20	CTCF	chr8:1921280-1921430	HCPEpiC	choroid plexus:	n/a	chr8:1921313-1921322
21	CTCF	chr8:1921280-1921430	HPF	lung:	n/a	chr8:1921313-1921322
22	CTCF	chr8:1921280-1921430	HBMEC	blood vessel:	n/a	chr8:1921313-1921322
23	CTCF	chr8:1921240-1921390	HMF	breast:	n/a	chr8:1921313-1921322
24	CTCF	chr8:1921300-1921450	HepG2	liver:	n/a	chr8:1921313-1921322
25	CTCF	chr8:1921360-1921510	RPTEC	kidney:	n/a	n/a
26	CTCF	chr8:1921200-1921350	HCFaa	heart:	n/a	chr8:1921313-1921322
27	CTCF	chr8:1921300-1921450	BJ	skin:	n/a	chr8:1921313-1921322
28	CTCF	chr8:1921220-1921370	HUVEC	blood vessel:	n/a	chr8:1921313-1921322
29	CTCF	chr8:1921200-1921350	BE2_C	brain:	n/a	chr8:1921313-1921322
30	CTCF	chr8:1921769-1921812	MCF-7	breast:	n/a	chr8:1921786-1921799 chr8:1921788-1921798
31	CTCF	chr8:1921220-1921370	HRPEpiC	eye:	n/a	chr8:1921313-1921322
32	CTCF	chr8:1921080-1921230	HRE	kidney:	n/a	n/a
33	CTCF	chr8:1921240-1921390	SK-N-SH_RA	brain:	n/a	chr8:1921313-1921322
34	CTCF	chr8:1921200-1921350	HRPEpiC	eye:	n/a	chr8:1921313-1921322
35	CTCF	chr8:1921820-1921970	Caco-2	colon:	n/a	n/a
36	E2F4	chr8:1920862-1921165	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F6	chr8:1921902-1922039	K562	blood:	n/a	n/a
38	EGR1	chr8:1921549-1921695	GM12878	blood:	n/a	chr8:1921656-1921669 chr8:1921656-1921670 chr8:1921658-1921668 chr8:1921661-1921671
39	EGR1	chr8:1921398-1922134	ECC-1	luminal epithelium:	n/a	chr8:1921928-1921950 chr8:1921656-1921669 chr8:1921656-1921670 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1921658-1921668 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921661-1921671 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
40	EGR1	chr8:1921448-1922188	HCT-116	colon:	n/a	chr8:1921928-1921950 chr8:1921656-1921669 chr8:1921656-1921670 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1921658-1921668 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921661-1921671 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
41	EGR1	chr8:1921524-1921777	K562	blood:	n/a	chr8:1921656-1921669 chr8:1921656-1921670 chr8:1921658-1921668 chr8:1921661-1921671
42	EGR1	chr8:1921455-1921784	K562	blood:	n/a	chr8:1921656-1921669 chr8:1921656-1921670 chr8:1921658-1921668 chr8:1921661-1921671
43	EGR1	chr8:1921513-1922144	MCF-7	breast:	n/a	chr8:1921928-1921950 chr8:1921656-1921669 chr8:1921656-1921670 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1921658-1921668 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921661-1921671 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
44	EGR1	chr8:1922299-1922715	H1-hESC	embryonic stem cell:	n/a	chr8:1922498-1922511 chr8:1922498-1922511 chr8:1922345-1922358 chr8:1922499-1922508 chr8:1922498-1922511 chr8:1922483-1922493 chr8:1922498-1922511
45	EGR1	chr8:1921788-1922060	K562	blood:	n/a	chr8:1921928-1921950 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
46	EGR1	chr8:1921324-1922126	ECC-1	luminal epithelium:	n/a	chr8:1921928-1921950 chr8:1921656-1921669 chr8:1921656-1921670 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1921658-1921668 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921661-1921671 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
47	EGR1	chr8:1921750-1922123	H1-hESC	embryonic stem cell:	n/a	chr8:1921928-1921950 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
48	EGR1	chr8:1921306-1922283	HCT-116	colon:	n/a	chr8:1921928-1921950 chr8:1921656-1921669 chr8:1921656-1921670 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1921658-1921668 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921661-1921671 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
49	EGR1	chr8:1921780-1922071	K562	blood:	n/a	chr8:1921928-1921950 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
50	FOXP2	chr8:1922314-1922671	PFSK-1	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:1921560-1921610	HMEC	breast:	n/a
2	chr8:1921560-1921610	HMEC	breast:	n/a
3	chr8:1922810-1922860	PFSK-1	brain:	n/a
4	chr8:1921560-1921610	CMK	blood:	n/a
5	chr8:1921410-1921460	ovcar-3	ovarian:	n/a
6	chr8:1923115-1923165	AG04449	skin:	fetal
7	chr8:1921740-1921790	HCT-116	colon:	n/a
8	chr8:1923115-1923165	GM12891	blood:	n/a
9	chr8:1921328-1921378	Hepatocyte	liver:	n/a
10	chr8:1922372-1922422	HCM	heart:	n/a
11	chr8:1921740-1921790	HRCEpiC	kidney:	n/a
12	chr8:1921906-1921956	Jurkat	blood:	n/a
13	chr8:1922165-1922215	HRPEpiC	eye:	n/a
14	chr8:1923052-1923102	HIPEpiC	eye:	n/a
15	chr8:1921740-1921790	HAEpiC	amniotic membrane:	n/a
16	chr8:1921328-1921378	PANC-1	pancreas:	n/a
17	chr8:1921560-1921610	GM06990	blood:	n/a
18	chr8:1921165-1921215	ECC-1	luminal epithelium:	n/a
19	chr8:1921410-1921460	HNPCEpiC	eye:	n/a
20	chr8:1921740-1921790	GM12878	blood:	n/a
21	chr8:1922165-1922215	HRCEpiC	kidney:	n/a
22	chr8:1921410-1921460	BJ	skin:	n/a
23	chr8:1921369-1921419	U87	brain:	n/a
24	chr8:1923115-1923165	AG10803	skin:	n/a
25	chr8:1921165-1921215	IMR90	lung:	fetal
26	chr8:1921410-1921460	HPAEpiC	pulmonary alveolar:	n/a
27	chr8:1922810-1922860	HEK293	kidney:	embryo
28	chr8:1921410-1921460	PANC-1	pancreas:	n/a
29	chr8:1922165-1922215	T-47D	breast:	n/a
30	chr8:1921740-1921790	SK-N-SH	brain:	n/a
31	chr8:1921740-1921790	AoSMC	blood vessel:	n/a
32	chr8:1921165-1921215	NT2-D1	testis:	n/a
33	chr8:1921410-1921460	NHDF-neo	bronchial:	n/a
34	chr8:1921906-1921956	HEEpiC	esophagus:	n/a
35	chr8:1922372-1922422	ProgFib	skin:	n/a
36	chr8:1923052-1923102	CMK	blood:	n/a
37	chr8:1921328-1921378	SAEC	small airway:	n/a
38	chr8:1921369-1921419	T-47D	breast:	n/a
39	chr8:1921328-1921378	NHDF-neo	bronchial:	n/a
40	chr8:1923052-1923102	A549	lung:	n/a
41	chr8:1921328-1921378	HCF	heart:	n/a
42	chr8:1921740-1921790	HRPEpiC	eye:	n/a
43	chr8:1923115-1923165	ovcar-3	ovarian:	n/a
44	chr8:1921328-1921378	K562	blood:	n/a
45	chr8:1921560-1921610	HRPEpiC	eye:	n/a
46	chr8:1923115-1923165	SK-N-SH	brain:	n/a
47	chr8:1921560-1921610	RPTEC	kidney:	n/a
48	chr8:1921410-1921460	PFSK-1	brain:	n/a
49	chr8:1923052-1923102	AoSMC	blood vessel:	n/a
50	chr8:1922165-1922215	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1923575..1926096-chr8:1929371..1931428,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CSMD1-7	chr8:1921314-1921776	ENSG00000253764.1
2	lnc-CSMD1-7	chr8:1921314-1921511	ENSG00000253764.1
3	lnc-CSMD1-7	chr8:1920987-1921202	ENSG00000253764.1
4	lnc-ARHGEF10-1	chr8:1922984-1923480	ENSG00000270988.1
5	lnc-CSMD1-7	chr8:1922773-1922803	ENSG00000253764.1

Variant related genes	Relation type
ENSG00000270988	TF binding region
KBTBD11	TF binding region
ENSG00000253764	TF binding region
ENSG00000270988	CpG island
KBTBD11	CpG island
ENSG00000253764	CpG island

Extended variants
information (count: 141 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528774786	chr8:1921038-1921039	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs550335368	chr8:1921054-1921055	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs186785415	chr8:1921083-1921084	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs370703449	chr8:1921095-1921096	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs138028480	chr8:1921103-1921104	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs116941897	chr8:1921111-1921112	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs142595160	chr8:1921118-1921119	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs191631896	chr8:1921124-1921125	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs554624678	chr8:1921135-1921136	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs574638915	chr8:1921136-1921137	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs543384811	chr8:1921154-1921155	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs4557743	chr8:1921160-1921161	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs577010102	chr8:1921190-1921191	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs545088758	chr8:1921204-1921205	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
15	rs182205094	chr8:1921240-1921241	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs559584990	chr8:1921251-1921252	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs368099129	chr8:1921260-1921261	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs573204136	chr8:1921262-1921263	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs117671892	chr8:1921328-1921329	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs75642490	chr8:1921365-1921366	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs562081205	chr8:1921367-1921368	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs146326382	chr8:1921371-1921372	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs530400493	chr8:1921382-1921383	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs550255612	chr8:1921400-1921401	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs530987243	chr8:1921404-1921405	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs570225637	chr8:1921409-1921410	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs540766217	chr8:1921410-1921411	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs73184720	chr8:1921412-1921413	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs4633105	chr8:1921428-1921429	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs534721240	chr8:1921433-1921434	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs575096587	chr8:1921445-1921446	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs116540739	chr8:1921451-1921452	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs117248895	chr8:1921469-1921470	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs537349072	chr8:1921488-1921489	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs187240665	chr8:1921523-1921524	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs142868421	chr8:1921538-1921539	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs577071606	chr8:1921543-1921544	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs117769948	chr8:1921562-1921563	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs10216516	chr8:1921589-1921590	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs572191947	chr8:1921619-1921620	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs567124919	chr8:1921668-1921669	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs190829313	chr8:1921714-1921715	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs561333116	chr8:1921725-1921726	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs144204047	chr8:1921726-1921727	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs543810872	chr8:1921736-1921737	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs113519693	chr8:1921758-1921759	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs6982400	chr8:1921768-1921769	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs148718425	chr8:1921773-1921774	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs142455922	chr8:1921787-1921788	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island	3 gene(s)	Overlapped CNVs	n/a
50	rs528172482	chr8:1921891-1921892	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1913600-1921200	Weak transcription	Esophagus	oesophagus
2	chr8:1914600-1921200	Weak transcription	Left Ventricle	heart
3	chr8:1914800-1921200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:1916600-1921200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:1919000-1921400	Enhancers	Spleen	Spleen
6	chr8:1919600-1923000	Active TSS	Duodenum Mucosa	Duodenum
7	chr8:1919800-1923200	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr8:1920000-1922400	Active TSS	Colonic Mucosa	Colon
9	chr8:1920600-1921600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:1920600-1922800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:1920800-1921200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr8:1920800-1921200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr8:1920800-1921200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr8:1920800-1921200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr8:1920800-1921200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:1920800-1921200	Flanking Active TSS	Fetal Kidney	kidney
17	chr8:1920800-1921200	Active TSS	Fetal Muscle Trunk	muscle
18	chr8:1920800-1921200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr8:1920800-1921200	Flanking Bivalent TSS/Enh	Thymus	Thymus
20	chr8:1920800-1921400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr8:1920800-1921400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr8:1920800-1921600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr8:1920800-1921600	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr8:1920800-1921600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr8:1920800-1921600	Flanking Active TSS	Fetal Brain Female	brain
26	chr8:1920800-1921800	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr8:1920800-1921800	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr8:1920800-1921800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr8:1920800-1921800	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr8:1920800-1921800	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr8:1920800-1922000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:1920800-1922200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr8:1920800-1923200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:1920800-1923400	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr8:1920800-1923400	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr8:1921000-1921200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:1921000-1921200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:1921000-1921200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
39	chr8:1921000-1921200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:1921000-1921200	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:1921000-1921200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:1921000-1921200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr8:1921000-1921200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr8:1921000-1921200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:1921000-1921200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr8:1921000-1921200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:1921000-1921200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:1921000-1921200	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr8:1921000-1921200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr8:1921000-1921200	Flanking Active TSS	Fetal Intestine Large	intestine

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