Variant report

Variant	esv3528681
Chromosome Location	chr1:247277979-247283377
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	ATF2	chr1:247282209-247282493	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr1:247282166-247282519	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr1:247282190-247282604	HepG2	liver:	n/a	n/a
4	CBX3	chr1:247279022-247279825	K562	blood:	n/a	n/a
5	CBX3	chr1:247280963-247282452	K562	blood:	n/a	n/a
6	CBX3	chr1:247279956-247280480	K562	blood:	n/a	n/a
7	CBX3	chr1:247278814-247282541	K562	blood:	n/a	n/a
8	CBX3	chr1:247280516-247280801	K562	blood:	n/a	n/a
9	CHD2	chr1:247282281-247282544	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr1:247282300-247282450	GM12875	blood:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
11	CTCF	chr1:247282320-247282470	NHEK	skin:	n/a	chr1:247282440-247282461 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456
12	CTCF	chr1:247282360-247282510	HCT-116	colon:	n/a	chr1:247282440-247282461 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456
13	CTCF	chr1:247282275-247282492	Gliobla	brain:	n/a	chr1:247282440-247282461 chr1:247282312-247282330 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456 chr1:247282308-247282317 chr1:247282314-247282327
14	CTCF	chr1:247282275-247282461	LNCaP	prostate:	n/a	chr1:247282440-247282461 chr1:247282312-247282330 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456 chr1:247282308-247282317 chr1:247282314-247282327
15	CTCF	chr1:247282220-247282370	GM12865	blood:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
16	CTCF	chr1:247282249-247282507	ECC-1	luminal epithelium:	n/a	chr1:247282440-247282461 chr1:247282312-247282330 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456 chr1:247282308-247282317 chr1:247282314-247282327
17	CTCF	chr1:247282273-247282459	GM10248	blood:	n/a	chr1:247282312-247282330 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456 chr1:247282308-247282317 chr1:247282314-247282327
18	CTCF	chr1:247282216-247282520	Hela-S3	cervix:	n/a	chr1:247282440-247282461 chr1:247282312-247282330 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456 chr1:247282308-247282317 chr1:247282314-247282327
19	CTCF	chr1:247282275-247282525	GM19240	blood:	n/a	chr1:247282440-247282461 chr1:247282312-247282330 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456 chr1:247282308-247282317 chr1:247282314-247282327
20	CTCF	chr1:247282260-247282527	GM12878	blood:	n/a	chr1:247282440-247282461 chr1:247282312-247282330 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456 chr1:247282308-247282317 chr1:247282314-247282327
21	CTCF	chr1:247282280-247282430	GM06990	blood:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
22	CTCF	chr1:247282426-247282437	GM13977	blood:	n/a	n/a
23	CTCF	chr1:247282257-247282513	HepG2	liver:	n/a	chr1:247282440-247282461 chr1:247282312-247282330 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456 chr1:247282308-247282317 chr1:247282314-247282327
24	CTCF	chr1:247282260-247282410	A549	lung:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
25	CTCF	chr1:247282565-247282567	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr1:247282260-247282530	HFF-Myc	foreskin:	n/a	chr1:247282440-247282461 chr1:247282312-247282330 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456 chr1:247282308-247282317 chr1:247282314-247282327
27	CTCF	chr1:247282300-247282450	HPAF	blood vessel:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
28	CTCF	chr1:247282280-247282430	HUVEC	blood vessel:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
29	CTCF	chr1:247282240-247282390	GM12870	blood:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
30	CTCF	chr1:247282367-247282448	MCF-7	breast:	n/a	n/a
31	CTCF	chr1:247282320-247282470	GM12871	blood:	n/a	chr1:247282440-247282461 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456
32	CTCF	chr1:247282246-247282498	GM19238	blood:	n/a	chr1:247282440-247282461 chr1:247282312-247282330 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456 chr1:247282308-247282317 chr1:247282314-247282327
33	CTCF	chr1:247282224-247282515	GM12892	blood:	n/a	chr1:247282440-247282461 chr1:247282312-247282330 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456 chr1:247282308-247282317 chr1:247282314-247282327
34	CTCF	chr1:247282360-247282510	HFF	foreskin:	n/a	chr1:247282440-247282461 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456
35	CTCF	chr1:247282340-247282490	GM12873	blood:	n/a	chr1:247282440-247282461 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456
36	CTCF	chr1:247282280-247282430	BE2_C	brain:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
37	CTCF	chr1:247282325-247282349	MCF-7	breast:	n/a	n/a
38	CTCF	chr1:247282286-247282406	Pancreas_OC	pancreas:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
39	CTCF	chr1:247282320-247282470	HepG2	liver:	n/a	chr1:247282440-247282461 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456
40	CTCF	chr1:247282307-247282472	GM10266	blood:	n/a	chr1:247282440-247282461 chr1:247282312-247282330 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456 chr1:247282308-247282317 chr1:247282314-247282327
41	CTCF	chr1:247282300-247282450	GM12871	blood:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
42	CTCF	chr1:247282266-247282358	GM19239	blood:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
43	CTCF	chr1:247282300-247282450	AG09319	gingival:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
44	CTCF	chr1:247282320-247282470	AG09309	skin:	n/a	chr1:247282440-247282461 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456
45	CTCF	chr1:247282300-247282450	HFF-Myc	foreskin:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
46	CTCF	chr1:247282320-247282470	GM12867	blood:	n/a	chr1:247282440-247282461 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456
47	CTCF	chr1:247282209-247282501	HepG2	liver:	n/a	chr1:247282440-247282461 chr1:247282312-247282330 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456 chr1:247282308-247282317 chr1:247282314-247282327
48	CTCF	chr1:247282225-247282563	H1-hESC	embryonic stem cell:	n/a	chr1:247282440-247282461 chr1:247282312-247282330 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456 chr1:247282308-247282317 chr1:247282314-247282327
49	CTCF	chr1:247282320-247282470	HBMEC	blood vessel:	n/a	chr1:247282440-247282461 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456
50	CTCF	chr1:247282190-247282740	A549	lung:	n/a	chr1:247282440-247282461 chr1:247282312-247282330 chr1:247282711-247282724 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456 chr1:247282308-247282317 chr1:247282664-247282673 chr1:247282314-247282327

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:247282458-247282508	HCT-116	colon:	n/a
2	chr1:247282458-247282508	HCT-116	colon:	n/a
3	chr1:247279205-247279255	HEK293	kidney:	embryo
4	chr1:247282458-247282508	HPAEpiC	pulmonary alveolar:	n/a
5	chr1:247282458-247282508	HCPEpiC	choroid plexus:	n/a
6	chr1:247279205-247279255	SK-N-SH	brain:	n/a
7	chr1:247279205-247279255	AG10803	skin:	n/a
8	chr1:247279205-247279255	GM12891	blood:	n/a
9	chr1:247278828-247278878	NT2-D1	testis:	n/a
10	chr1:247279205-247279255	HAEpiC	amniotic membrane:	n/a
11	chr1:247279205-247279255	A549	lung:	n/a
12	chr1:247278828-247278878	HPAEpiC	pulmonary alveolar:	n/a
13	chr1:247279205-247279255	GM06990	blood:	n/a
14	chr1:247282458-247282508	HL-60	blood:	n/a
15	chr1:247278828-247278878	A549	lung:	n/a
16	chr1:247278828-247278878	SK-N-MC	brain:	n/a
17	chr1:247279205-247279255	ProgFib	skin:	n/a
18	chr1:247282458-247282508	GM06990	blood:	n/a
19	chr1:247278828-247278878	HMEC	breast:	n/a
20	chr1:247279205-247279255	Caco-2	colon:	n/a
21	chr1:247279205-247279255	HMEC	breast:	n/a
22	chr1:247278828-247278878	HIPEpiC	eye:	n/a
23	chr1:247279205-247279255	HEEpiC	esophagus:	n/a
24	chr1:247282458-247282508	Jurkat	blood:	n/a
25	chr1:247282458-247282508	PFSK-1	brain:	n/a
26	chr1:247282458-247282508	BE2_C	brain:	n/a
27	chr1:247282458-247282508	HRPEpiC	eye:	n/a
28	chr1:247282458-247282508	HIPEpiC	eye:	n/a
29	chr1:247279205-247279255	GM19239	blood:	n/a
30	chr1:247279205-247279255	T-47D	breast:	n/a
31	chr1:247279205-247279255	HNPCEpiC	eye:	n/a
32	chr1:247279205-247279255	NHDF-neo	bronchial:	n/a
33	chr1:247278828-247278878	SKMC	muscle:	n/a
34	chr1:247282458-247282508	HNPCEpiC	eye:	n/a
35	chr1:247282458-247282508	AG09309	skin:	n/a
36	chr1:247278828-247278878	U87	brain:	n/a
37	chr1:247282458-247282508	Hepatocyte	liver:	n/a
38	chr1:247279205-247279255	SKMC	muscle:	n/a
39	chr1:247279205-247279255	HL-60	blood:	n/a
40	chr1:247278828-247278878	HRCEpiC	kidney:	n/a
41	chr1:247282458-247282508	ProgFib	skin:	n/a
42	chr1:247279205-247279255	BE2_C	brain:	n/a
43	chr1:247279205-247279255	SAEC	small airway:	n/a
44	chr1:247279205-247279255	H1-hESC	embryonic stem cell:	embryo
45	chr1:247282458-247282508	T-47D	breast:	n/a
46	chr1:247279205-247279255	SK-N-MC	brain:	n/a
47	chr1:247282458-247282508	ECC-1	luminal epithelium:	n/a
48	chr1:247279205-247279255	HepG2	liver:	n/a
49	chr1:247282458-247282508	NH-A	brain:	n/a
50	chr1:247279205-247279255	AG04450	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr1:247261271..247263933-chr1:247276366..247278097,2	K562	blood:
2	chr1:247274786..247276587-chr1:247277453..247279795,2	MCF-7	breast:
3	chr1:247241666..247243646-chr1:247278123..247279948,2	K562	blood:
4	chr1:247276067..247278651-chr1:247493890..247496062,2	MCF-7	breast:
5	chr1:247262370..247270931-chr1:247272613..247278774,19	MCF-7	breast:
6	chr1:247092146..247096759-chr1:247274350..247278356,6	MCF-7	breast:
7	chr1:247273239..247275061-chr1:247277041..247280302,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NLRP3-9	chr1:247282971-247283580	NONHSAT010752

Variant related genes	Relation type
C1orf229	TF binding region
FGFR3P6	TF binding region
C1orf229	CpG island
FGFR3P6	CpG island
ENSG00000162714	chromatin interactions
ENSG00000221953	chromatin interactions
ENSG00000135747	chromatin interactions
ENSG00000153207	chromatin interactions
ENSG00000188295	chromatin interactions

Extended variants
information (count: 190 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12068730	chr1:247278012-247278013	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534126114	chr1:247278018-247278019	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs529685993	chr1:247278082-247278083	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs141060877	chr1:247278088-247278089	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs187239177	chr1:247278118-247278119	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs60176339	chr1:247278125-247278126	Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs534588348	chr1:247278135-247278136	Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs553310215	chr1:247278188-247278189	Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs571606134	chr1:247278220-247278221	Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs112474547	chr1:247278228-247278229	Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs537176199	chr1:247278245-247278246	Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs556241409	chr1:247278271-247278272	Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs557022226	chr1:247278286-247278287	Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs567592231	chr1:247278291-247278292	Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs536256486	chr1:247278310-247278311	Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs552902348	chr1:247278416-247278417	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs74931093	chr1:247278445-247278446	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs78664116	chr1:247278451-247278452	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs555731259	chr1:247278459-247278460	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs558500048	chr1:247278490-247278491	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs575393669	chr1:247278492-247278493	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs544019042	chr1:247278498-247278499	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs150238870	chr1:247278508-247278509	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs575220877	chr1:247278517-247278518	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs74152932	chr1:247278545-247278546	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs540257074	chr1:247278551-247278552	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs78258766	chr1:247278591-247278592	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs138938562	chr1:247278650-247278651	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs370438403	chr1:247278659-247278660	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs116941563	chr1:247278660-247278661	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs565384008	chr1:247278680-247278681	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs531123563	chr1:247278683-247278684	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs6664694	chr1:247278707-247278708	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
34	rs115320974	chr1:247278774-247278775	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs577635111	chr1:247278795-247278796	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs140296841	chr1:247278798-247278799	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs546625116	chr1:247278818-247278819	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs145305431	chr1:247278828-247278829	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs74152933	chr1:247278860-247278861	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs558805724	chr1:247278884-247278885	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs77841444	chr1:247278902-247278903	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs149455475	chr1:247278925-247278926	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs114820836	chr1:247278930-247278931	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs376969661	chr1:247278966-247278967	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs544981819	chr1:247278987-247278988	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs144181288	chr1:247279001-247279002	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs368366620	chr1:247279033-247279034	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs76170357	chr1:247279057-247279058	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs560215957	chr1:247279064-247279065	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs375971058	chr1:247279065-247279066	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:30)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20435627	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247275600-247279200	Flanking Active TSS	HepG2	liver
2	chr1:247276000-247278400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:247276600-247284600	Weak transcription	Right Ventricle	heart
4	chr1:247276800-247278800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:247276800-247278800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:247276800-247283000	Weak transcription	Spleen	Spleen
7	chr1:247277000-247278600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:247278400-247278600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:247278600-247278800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:247278600-247278800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:247278800-247279000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:247278800-247279000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:247278800-247279200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:247279000-247279200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:247279000-247290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:247279200-247282400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:247282200-247282600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:247282200-247283600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:247282400-247283800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:247282600-247291000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:247283000-247283800	ZNF genes & repeats	Spleen	Spleen

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