Variant report

Variant	esv1824277
Chromosome Location	chr7:27169934-27176966
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:701)
CpG islands
(count:1771)
Chromatin interactive
region (count:38)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:701 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:27175249-27176352	HepG2	liver:	n/a	chr7:27176106-27176122
2	ARID3A	chr7:27171211-27171232	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:27170387-27170832	HepG2	liver:	n/a	n/a
4	ARID3A	chr7:27173264-27173893	HepG2	liver:	n/a	n/a
5	ARID3A	chr7:27169747-27169948	HepG2	liver:	n/a	n/a
6	ATF1	chr7:27176092-27176357	K562	blood:	n/a	n/a
7	ATF1	chr7:27175464-27175813	K562	blood:	n/a	n/a
8	ATF2	chr7:27173974-27174382	GM12878	blood:	n/a	n/a
9	ATF2	chr7:27173946-27174397	GM12878	blood:	n/a	n/a
10	ATF3	chr7:27170448-27170879	HepG2	liver:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
11	ATF3	chr7:27170463-27170795	H1-hESC	embryonic stem cell:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
12	ATF3	chr7:27175370-27176398	A549	lung:	n/a	n/a
13	ATF3	chr7:27170457-27170634	GM12878	blood:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
14	ATF3	chr7:27170368-27170749	HepG2	liver:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
15	ATF3	chr7:27170360-27170771	GM12878	blood:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
16	ATF3	chr7:27170355-27170818	H1-hESC	embryonic stem cell:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
17	BACH1	chr7:27170493-27170903	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr7:27174043-27174335	GM12878	blood:	n/a	chr7:27174182-27174193
19	BATF	chr7:27174042-27174424	GM12878	blood:	n/a	chr7:27174182-27174193
20	BCL11A	chr7:27174091-27174316	GM12878	blood:	n/a	n/a
21	BCL3	chr7:27175356-27176364	A549	lung:	n/a	n/a
22	BCL3	chr7:27174044-27174332	GM12878	blood:	n/a	n/a
23	BCL3	chr7:27175412-27176007	A549	lung:	n/a	n/a
24	BHLHE40	chr7:27174905-27175057	GM12878	blood:	n/a	n/a
25	BHLHE40	chr7:27170273-27170880	HepG2	liver:	n/a	n/a
26	BHLHE40	chr7:27174031-27174323	GM12878	blood:	n/a	n/a
27	BRCA1	chr7:27170756-27170901	HepG2	liver:	n/a	n/a
28	CEBPB	chr7:27174098-27174399	HepG2	liver:	n/a	chr7:27174227-27174240 chr7:27174382-27174394
29	CEBPB	chr7:27173765-27174446	IMR90	lung:	n/a	chr7:27174227-27174240 chr7:27174382-27174394
30	CEBPB	chr7:27176730-27177224	IMR90	lung:	n/a	n/a
31	CEBPB	chr7:27173981-27174510	HCT-116	colon:	n/a	chr7:27174227-27174240 chr7:27174382-27174394
32	CEBPB	chr7:27175361-27176008	A549	lung:	n/a	n/a
33	CEBPB	chr7:27175459-27176389	IMR90	lung:	n/a	n/a
34	CEBPB	chr7:27174066-27174397	A549	lung:	n/a	chr7:27174227-27174240 chr7:27174382-27174394
35	CEBPB	chr7:27174090-27174310	Hela-S3	cervix:	n/a	chr7:27174227-27174240
36	CEBPB	chr7:27173651-27173877	HepG2	liver:	n/a	n/a
37	CEBPB	chr7:27175585-27175909	HepG2	liver:	n/a	n/a
38	CEBPD	chr7:27170377-27170919	HepG2	liver:	n/a	n/a
39	CEBPD	chr7:27169660-27170031	HepG2	liver:	n/a	n/a
40	CHD1	chr7:27172934-27188024	IMR90	lung:	n/a	chr7:27183718-27183728 chr7:27179430-27179440
41	CHD2	chr7:27175517-27175890	HepG2	liver:	n/a	n/a
42	CHD2	chr7:27170224-27170858	HepG2	liver:	n/a	chr7:27170554-27170564
43	CHD2	chr7:27170256-27170940	Hela-S3	cervix:	n/a	chr7:27170554-27170564
44	CHD2	chr7:27170291-27170928	H1-hESC	embryonic stem cell:	n/a	chr7:27170554-27170564
45	CREB1	chr7:27176099-27176327	A549	lung:	n/a	n/a
46	CREB1	chr7:27170419-27170834	A549	lung:	n/a	n/a
47	CREB1	chr7:27175403-27176386	HepG2	liver:	n/a	n/a
48	CREB1	chr7:27175378-27175965	HepG2	liver:	n/a	n/a
49	CREB1	chr7:27175576-27175957	A549	lung:	n/a	n/a
50	CREB1	chr7:27170190-27171057	HepG2	liver:	n/a	n/a

(count:1771 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27173776-27173826	HAEpiC	amniotic membrane:	n/a
2	chr7:27170388-27170438	SKMC	muscle:	n/a
3	chr7:27173776-27173826	HAEpiC	amniotic membrane:	n/a
4	chr7:27170388-27170438	SKMC	muscle:	n/a
5	chr7:27170241-27170291	IMR90	lung:	fetal
6	chr7:27176127-27176177	HCPEpiC	choroid plexus:	n/a
7	chr7:27171203-27171253	AG09309	skin:	n/a
8	chr7:27173480-27173530	AG09309	skin:	n/a
9	chr7:27170241-27170291	K562	blood:	n/a
10	chr7:27171051-27171101	H1-hESC	embryonic stem cell:	embryo
11	chr7:27170994-27171044	NHBE	bronchial:	n/a
12	chr7:27173776-27173826	HMEC	breast:	n/a
13	chr7:27175152-27175202	SK-N-MC	brain:	n/a
14	chr7:27170554-27170604	GM12892	blood:	n/a
15	chr7:27171213-27171263	HNPCEpiC	eye:	n/a
16	chr7:27171528-27171578	PrEC	prostate:	n/a
17	chr7:27170961-27171011	SAEC	small airway:	n/a
18	chr7:27170241-27170291	MCF10A-Er-Src	breast:	n/a
19	chr7:27171051-27171101	HCF	heart:	n/a
20	chr7:27171051-27171101	SK-N-MC	brain:	n/a
21	chr7:27170241-27170291	H1-hESC	embryonic stem cell:	embryo
22	chr7:27173776-27173826	AG04449	skin:	fetal
23	chr7:27171154-27171204	SAEC	small airway:	n/a
24	chr7:27170552-27170602	A549	lung:	n/a
25	chr7:27170755-27170805	NHDF-neo	bronchial:	n/a
26	chr7:27171051-27171101	RPTEC	kidney:	n/a
27	chr7:27170994-27171044	GM06990	blood:	n/a
28	chr7:27176127-27176177	HUVEC	blood vessel:	n/a
29	chr7:27170552-27170602	HEK293	kidney:	embryo
30	chr7:27170994-27171044	U87	brain:	n/a
31	chr7:27175152-27175202	A549	lung:	n/a
32	chr7:27170717-27170767	HNPCEpiC	eye:	n/a
33	chr7:27172631-27172681	BE2_C	brain:	n/a
34	chr7:27170832-27170882	AoSMC	blood vessel:	n/a
35	chr7:27170832-27170882	HEK293	kidney:	embryo
36	chr7:27170388-27170438	AG04449	skin:	fetal
37	chr7:27170388-27170438	GM06990	blood:	n/a
38	chr7:27170819-27170869	Caco-2	colon:	n/a
39	chr7:27173776-27173826	HepG2	liver:	n/a
40	chr7:27176127-27176177	MCF10A-Er-Src	breast:	n/a
41	chr7:27170554-27170604	SK-N-SH	brain:	n/a
42	chr7:27170819-27170869	AG10803	skin:	n/a
43	chr7:27170994-27171044	AG04450	lung:	fetal
44	chr7:27172631-27172681	Caco-2	colon:	n/a
45	chr7:27170819-27170869	Jurkat	blood:	n/a
46	chr7:27171203-27171253	CMK	blood:	n/a
47	chr7:27170880-27170930	SK-N-SH	brain:	n/a
48	chr7:27171401-27171451	Jurkat	blood:	n/a
49	chr7:27171154-27171204	ECC-1	luminal epithelium:	n/a
50	chr7:27170832-27170882	GM06990	blood:	n/a

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:26903264..26905993-chr7:27172832..27179682,7	MCF-7	breast:
2	chr7:26902547..26905705-chr7:27166224..27172586,14	MCF-7	breast:
3	chr7:26721088..26721712-chr7:27175807..27176765,2	MCF-7	breast:
4	chr7:27154191..27156761-chr7:27169805..27172339,2	MCF-7	breast:
5	chr7:27164893..27167743-chr7:27169622..27171494,2	K562	blood:
6	7:27082525-27089724..7:27176959-27181770	Hela-S3	cervix:
7	chr7:27163696..27168800-chr7:27169622..27172644,4	K562	blood:
8	chr14:55517858..55520148-chr7:27170683..27172278,2	MCF-7	breast:
9	7:27158219-27162022..7:27173201-27176959	H1-hESC	embryonic stem cell:	embryo
10	7:27017279-27025474..7:27176959-27181770	Hela-S3	cervix:
11	chr3:186284854..186285731-chr7:27170175..27170751,2	NB4	blood:
12	chr7:27168902..27171913-chr7:27172340..27176747,4	K562	blood:
13	chr7:27134844..27136914-chr7:27174495..27176327,2	MCF-7	breast:
14	chr7:26899720..26900649-chr7:27175363..27176615,9	MCF-7	breast:
15	chr7:26725771..26726610-chr7:27176008..27176865,3	MCF-7	breast:
16	7:27143270-27156413..7:27173201-27176959	H1-hESC	embryonic stem cell:	embryo
17	chr7:26893107..26894049-chr7:27175583..27176696,5	MCF-7	breast:
18	chr7:27176885..27178847-chr7:27180948..27184346,3	K562	blood:
19	chr7:27170045..27170565-chr8:87526350..87526968,3	MCF-7	breast:
20	chr7:26894678..26896550-chr7:27170054..27174548,4	MCF-7	breast:
21	chr7:27175229..27177750-chr7:27182506..27185033,2	MCF-7	breast:
22	chr7:26899915..26900635-chr7:27175507..27176745,4	MCF-7	breast:
23	7:27173201-27176959..7:27238414-27242313	H1-hESC	embryonic stem cell:	embryo
24	chr7:27176401..27178574-chr7:27179994..27182011,2	K562	blood:
25	chr7:27170268..27172208-chr7:27181167..27182998,2	MCF-7	breast:
26	7:27162022-27164727..7:27176959-27181770	H1-hESC	embryonic stem cell:	embryo
27	chr7:26903826..26904489-chr7:27175411..27176270,2	MCF-7	breast:
28	chr7:27169441..27172151-chr7:27190133..27191991,3	MCF-7	breast:
29	chr7:26903161..26904431-chr7:27170079..27171250,4	MCF-7	breast:
30	chr7:26892969..26894016-chr7:27175632..27176342,3	MCF-7	breast:
31	7:27173201-27176959..7:27203007-27207968	H1-hESC	embryonic stem cell:	embryo
32	chr7:26897524..26906359-chr7:27169396..27177834,18	MCF-7	breast:
33	chr7:27170859..27172913-chr7:27177037..27178772,2	K562	blood:
34	chr7:26893161..26894119-chr7:27175695..27176233,2	K562	blood:
35	chr7:27161653..27164579-chr7:27169154..27171048,2	MCF-7	breast:
36	chr7:26895304..26897479-chr7:27176431..27178268,2	MCF-7	breast:
37	chr7:26898807..26900434-chr7:27171032..27173228,2	MCF-7	breast:
38	chr10:99257811..99258591-chr7:27170109..27170609,2	NB4	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EVX1-10	chr7:27173700-27173921	ENSG00000253552

No data

Variant related genes	Relation type
HOXA-AS3	TF binding region
HOXA3	TF binding region
HOXA4	TF binding region
HOXA-AS3	CpG island
HOXA3	CpG island
HOXA4	CpG island
ENSG00000078399	chromatin interactions
ENSG00000005020	chromatin interactions
ENSG00000197576	chromatin interactions
ENSG00000105991	chromatin interactions
ENSG00000105997	chromatin interactions
ENSG00000085719	chromatin interactions
ENSG00000106006	chromatin interactions
ENSG00000213786	chromatin interactions
ENSG00000254369	chromatin interactions
ENSG00000253552	chromatin interactions
ENSG00000226059	chromatin interactions
ENSG00000090520	chromatin interactions
ENSG00000176623	chromatin interactions
ENSG00000155229	chromatin interactions
ENSG00000243766	chromatin interactions
ENSG00000113838	chromatin interactions
ENSG00000106004	chromatin interactions
ENSG00000233429	chromatin interactions
ENSG00000168175	chromatin interactions
ENSG00000106031	chromatin interactions
LRRC40	miRNA target sites

Extended variants
information (count: 246 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:246 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10251056	chr7:27169934-27169935	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs540982908	chr7:27169939-27169940	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs561219190	chr7:27169977-27169978	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs190762351	chr7:27170074-27170075	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs6944345	chr7:27170145-27170146	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs6962314	chr7:27170159-27170160	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs77150951	chr7:27170168-27170169	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs532084815	chr7:27170188-27170189	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs551806691	chr7:27170190-27170191	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs559797480	chr7:27170198-27170199	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs1050272	chr7:27170236-27170237	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs148653911	chr7:27170275-27170276	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs1050271	chr7:27170281-27170282	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs144521145	chr7:27170286-27170287	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs565355921	chr7:27170301-27170302	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs147843309	chr7:27170307-27170308	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs373676990	chr7:27170316-27170317	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs199548066	chr7:27170338-27170339	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs141143994	chr7:27170344-27170345	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs534305733	chr7:27170366-27170367	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs554199651	chr7:27170412-27170413	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs567948173	chr7:27170514-27170515	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs536488915	chr7:27170528-27170529	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs556727783	chr7:27170545-27170546	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs576664025	chr7:27170570-27170571	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs10225507	chr7:27170583-27170584	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs559060909	chr7:27170614-27170615	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs572506592	chr7:27170616-27170617	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs541392926	chr7:27170637-27170638	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs561074696	chr7:27170653-27170654	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs529990763	chr7:27170675-27170676	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs6461988	chr7:27170706-27170707	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs563143864	chr7:27170728-27170729	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs548053168	chr7:27170730-27170731	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs376069426	chr7:27170757-27170758	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs181715293	chr7:27170833-27170834	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs530894762	chr7:27170842-27170843	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs528124852	chr7:27170869-27170870	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs73288595	chr7:27170877-27170878	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs550780393	chr7:27171073-27171074	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs567321284	chr7:27171129-27171130	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs143237428	chr7:27171146-27171147	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs536956405	chr7:27171229-27171230	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs546447746	chr7:27171312-27171313	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs570278653	chr7:27171313-27171314	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs187393466	chr7:27171334-27171335	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs566132950	chr7:27171346-27171347	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs370340348	chr7:27171409-27171410	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs573490778	chr7:27171410-27171411	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs114694893	chr7:27171412-27171413	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:567 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27163200-27170600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:27167800-27171000	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr7:27168800-27170800	Active TSS	Esophagus	oesophagus
4	chr7:27168800-27170800	Active TSS	Lung	lung
5	chr7:27168800-27171400	Active TSS	Fetal Kidney	kidney
6	chr7:27168800-27171800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr7:27169000-27170600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:27169000-27170600	Active TSS	Pancreas	Pancrea
9	chr7:27169000-27170800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr7:27169000-27170800	Bivalent/Poised TSS	Fetal Lung	lung
11	chr7:27169000-27171200	Active TSS	Aorta	Aorta
12	chr7:27169000-27171400	Active TSS	Right Atrium	heart
13	chr7:27169200-27170600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr7:27169200-27170800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:27169200-27170800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:27169200-27170800	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr7:27169200-27170800	Active TSS	Fetal Stomach	stomach
18	chr7:27169200-27170800	Active TSS	HSMM	muscle
19	chr7:27169200-27170800	Bivalent/Poised TSS	NH-A	brain
20	chr7:27169200-27170800	Active TSS	NHDF-Ad	bronchial
21	chr7:27169400-27170000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr7:27169400-27170000	Bivalent/Poised TSS	Right Ventricle	heart
23	chr7:27169400-27170200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
24	chr7:27169400-27170200	Flanking Active TSS	HMEC	breast
25	chr7:27169400-27170400	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr7:27169400-27170600	Active TSS	Ovary	ovary
27	chr7:27169400-27170800	Active TSS	Colon Smooth Muscle	Colon
28	chr7:27169400-27170800	Active TSS	Duodenum Mucosa	Duodenum
29	chr7:27169400-27170800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
30	chr7:27169400-27170800	Bivalent/Poised TSS	Placenta Amnion	Placenta Amnion
31	chr7:27169400-27171000	Active TSS	Psoas Muscle	Psoas
32	chr7:27169400-27171000	Active TSS	HSMMtube	muscle
33	chr7:27169400-27171200	Active TSS	A549	lung
34	chr7:27169600-27170000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:27169600-27170200	Weak transcription	Stomach Mucosa	stomach
36	chr7:27169600-27170400	Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr7:27169600-27170600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr7:27169600-27170800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:27169600-27170800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr7:27169600-27170800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:27169600-27170800	Active TSS	Fetal Intestine Large	intestine
42	chr7:27169600-27170800	Active TSS	Gastric	stomach
43	chr7:27169600-27170800	Bivalent/Poised TSS	Left Ventricle	heart
44	chr7:27169600-27170800	Active TSS	Small Intestine	intestine
45	chr7:27169600-27170800	Active TSS	Stomach Smooth Muscle	stomach
46	chr7:27169600-27170800	Active TSS	HepG2	liver
47	chr7:27169600-27170800	Active TSS	NHEK	skin
48	chr7:27169600-27171000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:27169600-27171000	Active TSS	Rectal Smooth Muscle	rectum
50	chr7:27169600-27171000	Active TSS	Thymus	Thymus

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