Variant report

Variant	esv3428881
Chromosome Location	chr7:27169177-27171225
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:318)
CpG islands
(count:1470)
Chromatin interactive
region (count:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:27170387-27170832	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:27169747-27169948	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:27171211-27171232	HepG2	liver:	n/a	n/a
4	ATF3	chr7:27170448-27170879	HepG2	liver:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
5	ATF3	chr7:27170457-27170634	GM12878	blood:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
6	ATF3	chr7:27170355-27170818	H1-hESC	embryonic stem cell:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
7	ATF3	chr7:27170360-27170771	GM12878	blood:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
8	ATF3	chr7:27170368-27170749	HepG2	liver:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
9	ATF3	chr7:27170463-27170795	H1-hESC	embryonic stem cell:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
10	BACH1	chr7:27170493-27170903	H1-hESC	embryonic stem cell:	n/a	n/a
11	BHLHE40	chr7:27170273-27170880	HepG2	liver:	n/a	n/a
12	BRCA1	chr7:27170756-27170901	HepG2	liver:	n/a	n/a
13	CEBPD	chr7:27170377-27170919	HepG2	liver:	n/a	n/a
14	CEBPD	chr7:27169660-27170031	HepG2	liver:	n/a	n/a
15	CHD2	chr7:27170291-27170928	H1-hESC	embryonic stem cell:	n/a	chr7:27170554-27170564
16	CHD2	chr7:27170224-27170858	HepG2	liver:	n/a	chr7:27170554-27170564
17	CHD2	chr7:27169720-27169725	Hela-S3	cervix:	n/a	n/a
18	CHD2	chr7:27170256-27170940	Hela-S3	cervix:	n/a	chr7:27170554-27170564
19	CREB1	chr7:27170419-27170834	A549	lung:	n/a	n/a
20	CREB1	chr7:27170190-27171057	HepG2	liver:	n/a	n/a
21	CTBP2	chr7:27170118-27171082	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr7:27169720-27169870	HepG2	liver:	n/a	n/a
23	CTCF	chr7:27169751-27169898	HepG2	liver:	n/a	n/a
24	CTCF	chr7:27169700-27169850	BJ	skin:	n/a	n/a
25	CTCF	chr7:27169681-27169978	Fibrobl	skin:	n/a	n/a
26	CTCF	chr7:27169720-27169870	HMF	breast:	n/a	n/a
27	CTCF	chr7:27169760-27169910	Caco-2	colon:	n/a	n/a
28	CTCF	chr7:27170105-27170126	MCF-7	breast:	n/a	n/a
29	CTCF	chr7:27169700-27169850	AG09309	skin:	n/a	n/a
30	CTCF	chr7:27169700-27169850	NHEK	skin:	n/a	n/a
31	CTCF	chr7:27169661-27170006	IMR90	lung:	n/a	n/a
32	CTCF	chr7:27169680-27169830	GM12864	blood:	n/a	n/a
33	CTCF	chr7:27170580-27170730	Caco-2	colon:	n/a	n/a
34	CTCF	chr7:27169740-27169890	RPTEC	kidney:	n/a	n/a
35	CTCF	chr7:27169720-27169870	AoAF	blood vessel:	n/a	n/a
36	CTCF	chr7:27169620-27169770	HFF	foreskin:	n/a	n/a
37	CTCF	chr7:27170093-27170101	MCF-7	breast:	n/a	n/a
38	CTCF	chr7:27169720-27169870	Caco-2	colon:	n/a	n/a
39	CTCF	chr7:27169760-27169910	AG10803	skin:	n/a	n/a
40	CTCF	chr7:27169784-27169903	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr7:27169720-27169870	NHLF	lung:	n/a	n/a
42	CTCF	chr7:27169935-27169938	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr7:27169740-27169890	GM12869	blood:	n/a	n/a
44	CTCF	chr7:27169720-27169870	AG04449	skin:	n/a	n/a
45	CTCF	chr7:27169741-27169915	MCF-7	breast:	n/a	n/a
46	CTCF	chr7:27169740-27169890	NB4	blood:	n/a	n/a
47	CTCF	chr7:27169720-27169870	HL-60	blood:	n/a	n/a
48	CTCF	chr7:27169750-27169751	Lung_OC	lung:	n/a	n/a
49	CTCF	chr7:27169705-27169962	NHEK	skin:	n/a	n/a
50	CTCF	chr7:27169765-27169868	HUVEC	blood vessel:	n/a	n/a

(count:1470 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27170892-27170942	AG09309	skin:	n/a
2	chr7:27170755-27170805	HNPCEpiC	eye:	n/a
3	chr7:27170961-27171011	SKMC	muscle:	n/a
4	chr7:27170394-27170444	HAEpiC	amniotic membrane:	n/a
5	chr7:27171051-27171101	HEK293	kidney:	embryo
6	chr7:27171154-27171204	SK-N-SH	brain:	n/a
7	chr7:27170892-27170942	AG09309	skin:	n/a
8	chr7:27170755-27170805	HNPCEpiC	eye:	n/a
9	chr7:27170961-27171011	SKMC	muscle:	n/a
10	chr7:27170394-27170444	HAEpiC	amniotic membrane:	n/a
11	chr7:27171051-27171101	HEK293	kidney:	embryo
12	chr7:27171154-27171204	SK-N-SH	brain:	n/a
13	chr7:27170892-27170942	PANC-1	pancreas:	n/a
14	chr7:27169740-27169790	NHDF-neo	bronchial:	n/a
15	chr7:27170554-27170604	GM12878	blood:	n/a
16	chr7:27169740-27169790	GM12891	blood:	n/a
17	chr7:27170412-27170462	GM19239	blood:	n/a
18	chr7:27170554-27170604	RPTEC	kidney:	n/a
19	chr7:27169136-27169186	HPAEpiC	pulmonary alveolar:	n/a
20	chr7:27170412-27170462	HRE	kidney:	n/a
21	chr7:27169208-27169258	NHBE	bronchial:	n/a
22	chr7:27170755-27170805	GM12878	blood:	n/a
23	chr7:27171203-27171253	HRPEpiC	eye:	n/a
24	chr7:27170554-27170604	HUVEC	blood vessel:	n/a
25	chr7:27170880-27170930	NH-A	brain:	n/a
26	chr7:27169136-27169186	AG09319	gingival:	n/a
27	chr7:27170832-27170882	GM12878	blood:	n/a
28	chr7:27171051-27171101	RPTEC	kidney:	n/a
29	chr7:27170313-27170363	AG10803	skin:	n/a
30	chr7:27171154-27171204	NB4	blood:	n/a
31	chr7:27170388-27170438	HepG2	liver:	n/a
32	chr7:27170313-27170363	ECC-1	luminal epithelium:	n/a
33	chr7:27170819-27170869	HMEC	breast:	n/a
34	chr7:27170819-27170869	ovcar-3	ovarian:	n/a
35	chr7:27171051-27171101	U87	brain:	n/a
36	chr7:27171154-27171204	HL-60	blood:	n/a
37	chr7:27171051-27171101	AG09309	skin:	n/a
38	chr7:27171154-27171204	ProgFib	skin:	n/a
39	chr7:27171203-27171253	PFSK-1	brain:	n/a
40	chr7:27169674-27169724	HCF	heart:	n/a
41	chr7:27171154-27171204	NHBE	bronchial:	n/a
42	chr7:27171203-27171253	NH-A	brain:	n/a
43	chr7:27169740-27169790	HUVEC	blood vessel:	n/a
44	chr7:27171051-27171101	AG10803	skin:	n/a
45	chr7:27170961-27171011	HCF	heart:	n/a
46	chr7:27170880-27170930	GM12892	blood:	n/a
47	chr7:27170554-27170604	HEEpiC	esophagus:	n/a
48	chr7:27170394-27170444	AG04450	lung:	fetal
49	chr7:27171213-27171263	HCF	heart:	n/a
50	chr7:27170313-27170363	LNCaP	prostate:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:27170045..27170565-chr8:87526350..87526968,3	MCF-7	breast:
2	chr14:55517858..55520148-chr7:27170683..27172278,2	MCF-7	breast:
3	chr7:26902547..26905705-chr7:27166224..27172586,14	MCF-7	breast:
4	chr7:26897524..26906359-chr7:27169396..27177834,18	MCF-7	breast:
5	chr7:27163696..27168800-chr7:27169622..27172644,4	K562	blood:
6	chr7:27170859..27172913-chr7:27177037..27178772,2	K562	blood:
7	chr7:27154191..27156761-chr7:27169805..27172339,2	MCF-7	breast:
8	chr7:26903161..26904431-chr7:27170079..27171250,4	MCF-7	breast:
9	chr7:27161653..27164579-chr7:27169154..27171048,2	MCF-7	breast:
10	chr7:27169441..27172151-chr7:27190133..27191991,3	MCF-7	breast:
11	chr7:27164893..27167743-chr7:27169622..27171494,2	K562	blood:
12	chr7:26894678..26896550-chr7:27170054..27174548,4	MCF-7	breast:
13	chr3:186284854..186285731-chr7:27170175..27170751,2	NB4	blood:
14	chr7:26898807..26900434-chr7:27171032..27173228,2	MCF-7	breast:
15	chr7:27170268..27172208-chr7:27181167..27182998,2	MCF-7	breast:
16	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-EVX1-8	chr7:27169596-27169767	ENSG00000254369

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
ENSG00000113838	chromatin interactions
ENSG00000106006	chromatin interactions
ENSG00000090520	chromatin interactions
ENSG00000085719	chromatin interactions
ENSG00000253552	chromatin interactions
ENSG00000005020	chromatin interactions
ENSG00000176623	chromatin interactions
ENSG00000105997	chromatin interactions
ENSG00000168175	chromatin interactions
ENSG00000106004	chromatin interactions
ENSG00000155229	chromatin interactions
RAPGEF4	miRNA target sites

Extended variants
information (count: 71 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41303381	chr7:27169201-27169202	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs374455430	chr7:27169205-27169206	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs181341224	chr7:27169218-27169219	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs145416440	chr7:27169251-27169252	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs527593831	chr7:27169264-27169265	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs547666569	chr7:27169358-27169359	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs17449108	chr7:27169369-27169370	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs6957209	chr7:27169388-27169389	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs371502063	chr7:27169399-27169400	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs536412763	chr7:27169417-27169418	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs549643528	chr7:27169483-27169484	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs569710239	chr7:27169565-27169566	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs574989954	chr7:27169585-27169586	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs538292146	chr7:27169600-27169601	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
15	rs558119579	chr7:27169613-27169614	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
16	rs6943542	chr7:27169617-27169618	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs534222726	chr7:27169684-27169685	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
18	rs563712719	chr7:27169698-27169699	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
19	rs554415472	chr7:27169709-27169710	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
20	rs529903815	chr7:27169768-27169769	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs200014123	chr7:27169794-27169795	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs556430778	chr7:27169804-27169805	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	5 gene(s)	Overlapped CNVs	n/a
23	rs376607993	chr7:27169814-27169815	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
24	rs13246087	chr7:27169819-27169820	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
25	rs13246088	chr7:27169821-27169822	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
26	rs200965871	chr7:27169829-27169830	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
27	rs112274824	chr7:27169876-27169877	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
28	rs565283516	chr7:27169902-27169903	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
29	rs112585575	chr7:27169921-27169922	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

Variant related diseases (count:84)

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

Chromatin state (count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27146400-27169600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:27152800-27169400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:27155600-27169400	Weak transcription	Hela-S3	cervix
4	chr7:27156200-27169200	Weak transcription	Osteobl	bone
5	chr7:27162800-27169600	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr7:27163200-27170600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:27164200-27169600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:27164400-27169200	Weak transcription	NHDF-Ad	bronchial
9	chr7:27164600-27169400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:27164600-27169400	Weak transcription	HMEC	breast
11	chr7:27165600-27169200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:27167000-27169400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:27167800-27171000	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr7:27168000-27169400	Weak transcription	HSMMtube	muscle
15	chr7:27168400-27169200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
16	chr7:27168400-27169200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
17	chr7:27168400-27169600	Flanking Active TSS	Rectal Smooth Muscle	rectum
18	chr7:27168400-27169600	Enhancers	Spleen	Spleen
19	chr7:27168400-27169800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
20	chr7:27168400-27169800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr7:27168600-27169200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr7:27168600-27169200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:27168600-27169200	Enhancers	A549	lung
24	chr7:27168800-27169200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:27168800-27169200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:27168800-27169200	Enhancers	Colon Smooth Muscle	Colon
27	chr7:27168800-27169200	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
28	chr7:27168800-27169200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr7:27168800-27169400	Flanking Active TSS	Psoas Muscle	Psoas
30	chr7:27168800-27169600	Flanking Active TSS	Fetal Intestine Large	intestine
31	chr7:27168800-27169800	Flanking Active TSS	Colonic Mucosa	Colon
32	chr7:27168800-27170800	Active TSS	Esophagus	oesophagus
33	chr7:27168800-27170800	Active TSS	Lung	lung
34	chr7:27168800-27171400	Active TSS	Fetal Kidney	kidney
35	chr7:27168800-27171800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr7:27169000-27169200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:27169000-27169200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:27169000-27169200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:27169000-27169200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr7:27169000-27169200	Bivalent Enhancer	Liver	Liver
41	chr7:27169000-27169200	Enhancers	NHEK	skin
42	chr7:27169000-27169400	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr7:27169000-27169400	Bivalent Enhancer	Right Ventricle	heart
44	chr7:27169000-27169400	Enhancers	Stomach Mucosa	stomach
45	chr7:27169000-27169600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:27169000-27169600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr7:27169000-27169600	Flanking Active TSS	HepG2	liver
48	chr7:27169000-27169800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:27169000-27169800	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr7:27169000-27169800	Flanking Active TSS	Fetal Muscle Trunk	muscle

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