Variant report

Variant	esv3436798
Chromosome Location	chr5:7849477-7852325
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	ARID3A	chr5:7851690-7852042	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:7851207-7851276	HepG2	liver:	n/a	n/a
3	BRCA1	chr5:7851287-7851336	H1-hESC	embryonic stem cell:	n/a	n/a
4	BRCA1	chr5:7851556-7851578	HepG2	liver:	n/a	n/a
5	BRCA1	chr5:7851878-7852007	GM12878	blood:	n/a	n/a
6	CEBPB	chr5:7851667-7852079	HepG2	liver:	n/a	n/a
7	CHD2	chr5:7850058-7850060	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr5:7851249-7851343	HepG2	liver:	n/a	n/a
9	CHD2	chr5:7850459-7850649	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr5:7851100-7851646	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr5:7850000-7850150	NHLF	lung:	n/a	n/a
12	CTCF	chr5:7849980-7850130	MCF-7	breast:	n/a	n/a
13	CTCF	chr5:7850060-7850210	HCPEpiC	choroid plexus:	n/a	chr5:7850135-7850156 chr5:7850147-7850154 chr5:7850140-7850158
14	CTCF	chr5:7851220-7851370	HCM	heart:	n/a	n/a
15	CTCF	chr5:7849869-7850345	SK-N-SH	brain:	n/a	chr5:7850135-7850156 chr5:7849883-7849896 chr5:7850147-7850154 chr5:7850140-7850158
16	CTCF	chr5:7851228-7851311	Medullo	brain:	n/a	n/a
17	CTCF	chr5:7851180-7851330	NHDF-neo	bronchial:	n/a	n/a
18	CTCF	chr5:7850076-7850240	MCF-7	breast:	n/a	chr5:7850135-7850156 chr5:7850147-7850154 chr5:7850140-7850158
19	CTCF	chr5:7851221-7851366	MCF-7	breast:	n/a	n/a
20	CTCF	chr5:7851200-7851350	HBMEC	blood vessel:	n/a	n/a
21	CTCF	chr5:7851200-7851350	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr5:7851200-7851350	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr5:7850080-7850230	GM06990	blood:	n/a	chr5:7850135-7850156 chr5:7850147-7850154 chr5:7850140-7850158
24	CTCF	chr5:7850080-7850230	HepG2	liver:	n/a	chr5:7850135-7850156 chr5:7850147-7850154 chr5:7850140-7850158
25	CTCF	chr5:7851160-7851310	HRE	kidney:	n/a	n/a
26	CTCF	chr5:7851180-7851330	HFF-Myc	foreskin:	n/a	n/a
27	CTCF	chr5:7850020-7850170	Caco-2	colon:	n/a	chr5:7850135-7850156 chr5:7850147-7850154 chr5:7850140-7850158
28	CTCF	chr5:7851282-7851309	GM10266	blood:	n/a	n/a
29	CTCF	chr5:7850100-7850250	HBMEC	blood vessel:	n/a	chr5:7850135-7850156 chr5:7850147-7850154 chr5:7850140-7850158
30	CTCF	chr5:7851220-7851370	HEK293	kidney:	n/a	n/a
31	CTCF	chr5:7851180-7851330	HA-sp	spinal cord:	n/a	n/a
32	CTCF	chr5:7851200-7851350	HA-sp	spinal cord:	n/a	n/a
33	CTCF	chr5:7851273-7851303	GM10248	blood:	n/a	n/a
34	CTCF	chr5:7851180-7851330	GM12873	blood:	n/a	n/a
35	CTCF	chr5:7850113-7850210	Medullo	brain:	n/a	chr5:7850135-7850156 chr5:7850147-7850154 chr5:7850140-7850158
36	CTCF	chr5:7851220-7851370	AG09319	gingival:	n/a	n/a
37	CTCF	chr5:7850004-7850249	HepG2	liver:	n/a	chr5:7850135-7850156 chr5:7850147-7850154 chr5:7850140-7850158
38	CTCF	chr5:7851240-7851390	HepG2	liver:	n/a	n/a
39	CTCF	chr5:7850114-7850187	GM12891	blood:	n/a	chr5:7850135-7850156 chr5:7850147-7850154 chr5:7850140-7850158
40	CTCF	chr5:7851160-7851310	GM12868	blood:	n/a	n/a
41	CTCF	chr5:7851100-7851250	BE2_C	brain:	n/a	n/a
42	CTCF	chr5:7849970-7850307	H1-hESC	embryonic stem cell:	n/a	chr5:7850135-7850156 chr5:7850147-7850154 chr5:7850140-7850158
43	CTCF	chr5:7849960-7850110	HRE	kidney:	n/a	n/a
44	CTCF	chr5:7850080-7850230	HRE	kidney:	n/a	chr5:7850135-7850156 chr5:7850147-7850154 chr5:7850140-7850158
45	CTCF	chr5:7850100-7850250	HCPEpiC	choroid plexus:	n/a	chr5:7850135-7850156 chr5:7850147-7850154 chr5:7850140-7850158
46	CTCF	chr5:7851240-7851390	NHEK	skin:	n/a	n/a
47	CTCF	chr5:7850047-7850204	SK-N-SH_RA	brain:	n/a	chr5:7850135-7850156 chr5:7850147-7850154 chr5:7850140-7850158
48	CTCF	chr5:7851200-7851350	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr5:7850100-7850250	HA-sp	spinal cord:	n/a	chr5:7850135-7850156 chr5:7850147-7850154 chr5:7850140-7850158
50	CTCF	chr5:7850260-7850410	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:7852098-7852148	SKMC	muscle:	n/a
2	chr5:7852098-7852148	SKMC	muscle:	n/a
3	chr5:7852098-7852148	ProgFib	skin:	n/a
4	chr5:7851280-7851330	CMK	blood:	n/a
5	chr5:7850922-7850972	HPAEpiC	pulmonary alveolar:	n/a
6	chr5:7850070-7850120	HCF	heart:	n/a
7	chr5:7851681-7851731	GM12892	blood:	n/a
8	chr5:7851681-7851731	Caco-2	colon:	n/a
9	chr5:7851396-7851446	AoSMC	blood vessel:	n/a
10	chr5:7851280-7851330	HepG2	liver:	n/a
11	chr5:7850438-7850488	ProgFib	skin:	n/a
12	chr5:7851407-7851457	HCT-116	colon:	n/a
13	chr5:7851231-7851281	IMR90	lung:	fetal
14	chr5:7850070-7850120	CMK	blood:	n/a
15	chr5:7850327-7850377	ECC-1	luminal epithelium:	n/a
16	chr5:7850438-7850488	PrEC	prostate:	n/a
17	chr5:7851407-7851457	BE2_C	brain:	n/a
18	chr5:7851681-7851731	AG10803	skin:	n/a
19	chr5:7851681-7851731	ovcar-3	ovarian:	n/a
20	chr5:7851396-7851446	HMEC	breast:	n/a
21	chr5:7850203-7850253	SK-N-SH_RA	brain:	n/a
22	chr5:7851031-7851081	HRE	kidney:	n/a
23	chr5:7849836-7849886	HCM	heart:	n/a
24	chr5:7850922-7850972	SK-N-MC	brain:	n/a
25	chr5:7852098-7852148	HepG2	liver:	n/a
26	chr5:7850922-7850972	GM12892	blood:	n/a
27	chr5:7850327-7850377	RPTEC	kidney:	n/a
28	chr5:7850203-7850253	HEK293	kidney:	embryo
29	chr5:7849836-7849886	SKMC	muscle:	n/a
30	chr5:7850327-7850377	HPAEpiC	pulmonary alveolar:	n/a
31	chr5:7849599-7849649	RPTEC	kidney:	n/a
32	chr5:7851231-7851281	HUVEC	blood vessel:	n/a
33	chr5:7850070-7850120	HNPCEpiC	eye:	n/a
34	chr5:7849836-7849886	AG09309	skin:	n/a
35	chr5:7849599-7849649	AG09309	skin:	n/a
36	chr5:7851031-7851081	GM12891	blood:	n/a
37	chr5:7851681-7851731	MCF-7	breast:	n/a
38	chr5:7851487-7851537	NB4	blood:	n/a
39	chr5:7850070-7850120	HUVEC	blood vessel:	n/a
40	chr5:7851396-7851446	HCF	heart:	n/a
41	chr5:7851407-7851457	HCM	heart:	n/a
42	chr5:7851407-7851457	SAEC	small airway:	n/a
43	chr5:7851487-7851537	HMEC	breast:	n/a
44	chr5:7851280-7851330	HMEC	breast:	n/a
45	chr5:7851487-7851537	ovcar-3	ovarian:	n/a
46	chr5:7851681-7851731	HRPEpiC	eye:	n/a
47	chr5:7850922-7850972	HL-60	blood:	n/a
48	chr5:7849836-7849886	RPTEC	kidney:	n/a
49	chr5:7850438-7850488	LNCaP	prostate:	n/a
50	chr5:7850922-7850972	NT2-D1	testis:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:7848000..7849611-chr5:7874287..7876692,2	MCF-7	breast:
2	chr5:7849253..7853514-chr5:7868734..7871211,5	MCF-7	breast:
3	chr5:7843515..7845259-chr5:7848179..7851160,2	MCF-7	breast:
4	chr5:7850851..7852971-chr5:7863121..7865145,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTRR-7	chr5:7850990-7851698	NONHSAT100256
2	lnc-MTRR-7	chr5:7851313-7851698	NONHSAT100259
3	lnc-MTRR-7	chr5:7851299-7851698	NONHSAT100257

Variant related genes	Relation type
MTRR	TF binding region
C5orf49	TF binding region
MTRR	CpG island
C5orf49	CpG island
ENSG00000124275	chromatin interactions
ENSG00000124279	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187555025	chr5:7849486-7849487	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs551465371	chr5:7849492-7849493	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs73737642	chr5:7849499-7849500	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs527505638	chr5:7849519-7849520	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs547680924	chr5:7849551-7849552	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs326201	chr5:7849593-7849594	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs150300630	chr5:7849599-7849600	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs555476438	chr5:7849600-7849601	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs569276156	chr5:7849648-7849649	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs191376555	chr5:7849675-7849676	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs144877082	chr5:7849773-7849774	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs574169470	chr5:7849811-7849812	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs141114683	chr5:7849843-7849844	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs73032303	chr5:7849861-7849862	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs144844916	chr5:7849868-7849869	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs573989311	chr5:7849881-7849882	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs35855646	chr5:7849889-7849890	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs3216725	chr5:7849934-7849935	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs326202	chr5:7849989-7849990	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs562302469	chr5:7850002-7850003	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs2277001	chr5:7850040-7850041	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs1563911	chr5:7850055-7850056	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs2277000	chr5:7850066-7850067	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs34778699	chr5:7850073-7850074	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs73032305	chr5:7850116-7850117	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs547593845	chr5:7850144-7850145	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs539173707	chr5:7850150-7850151	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs529939504	chr5:7850155-7850156	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs115742067	chr5:7850160-7850161	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs182102990	chr5:7850182-7850183	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs569113803	chr5:7850205-7850206	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs138755181	chr5:7850251-7850252	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs557761556	chr5:7850273-7850274	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs113804423	chr5:7850322-7850323	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs151261942	chr5:7850345-7850346	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs56216818	chr5:7850355-7850356	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs326203	chr5:7850363-7850364	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs574185911	chr5:7850405-7850406	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs141797095	chr5:7850451-7850452	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs556837992	chr5:7850466-7850467	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs575913456	chr5:7850503-7850504	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs544973415	chr5:7850534-7850535	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs564903697	chr5:7850539-7850540	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs192871247	chr5:7850561-7850562	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs326204	chr5:7850609-7850610	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs185357041	chr5:7850719-7850720	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs190209972	chr5:7850785-7850786	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs416178	chr5:7850831-7850832	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs547389546	chr5:7850899-7850900	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs451999	chr5:7850911-7850912	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD

Chromatin state (count:487 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7849000-7849600	Enhancers	Fetal Brain Male	brain
2	chr5:7849000-7850200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:7849000-7851000	Weak transcription	HSMM	muscle
4	chr5:7849200-7849600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
5	chr5:7849200-7849800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:7849200-7849800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:7849400-7849600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
8	chr5:7849400-7849600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
9	chr5:7849400-7849600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:7849400-7849600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr5:7849400-7849600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
12	chr5:7849400-7849600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:7849400-7849600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:7849400-7849600	Enhancers	Brain Anterior Caudate	brain
15	chr5:7849400-7849600	Active TSS	Brain Cingulate Gyrus	brain
16	chr5:7849400-7849600	Enhancers	Brain Germinal Matrix	brain
17	chr5:7849400-7849600	Enhancers	Brain Hippocampus Middle	brain
18	chr5:7849400-7849600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr5:7849400-7849600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:7849400-7849600	Enhancers	Fetal Brain Female	brain
21	chr5:7849400-7849600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
22	chr5:7849400-7849800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
23	chr5:7849400-7849800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr5:7849400-7849800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
25	chr5:7849400-7850000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:7849400-7850000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr5:7849400-7850400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:7849600-7849800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:7849600-7849800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:7849600-7849800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:7849600-7849800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:7849600-7849800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:7849600-7849800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:7849600-7849800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:7849600-7849800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr5:7849600-7849800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr5:7849600-7849800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
38	chr5:7849600-7849800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
39	chr5:7849600-7849800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
40	chr5:7849600-7849800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
41	chr5:7849600-7849800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
42	chr5:7849600-7849800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
43	chr5:7849600-7849800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:7849600-7849800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:7849600-7849800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
46	chr5:7849600-7849800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:7849600-7849800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:7849600-7849800	Bivalent Enhancer	Adipose Nuclei	Adipose
49	chr5:7849600-7849800	Bivalent Enhancer	Brain Substantia Nigra	brain
50	chr5:7849600-7849800	Bivalent Enhancer	Colon Smooth Muscle	Colon

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