Variant report

Variant	esv3424281
Chromosome Location	chr7:27237577-27241175
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:155)
CpG islands
(count:735)
Chromatin interactive
region (count:10)
LncRNA
region (count:42)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:155 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr7:27239932-27239942	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD2	chr7:27239972-27240015	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr7:27239642-27240298	Hela-S3	cervix:	n/a	n/a
4	CREB1	chr7:27239286-27240202	A549	lung:	n/a	n/a
5	CTBP2	chr7:27238575-27239234	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTBP2	chr7:27239696-27240391	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr7:27240760-27240910	AG09319	gingival:	n/a	n/a
8	CTCF	chr7:27240880-27241030	GM12864	blood:	n/a	n/a
9	CTCF	chr7:27239901-27239975	MCF-7	breast:	n/a	n/a
10	CTCF	chr7:27238960-27239110	HCT-116	colon:	n/a	n/a
11	CTCF	chr7:27240800-27240950	AG09319	gingival:	n/a	n/a
12	CTCF	chr7:27238940-27239090	AG04449	skin:	n/a	n/a
13	CTCF	chr7:27240760-27240910	Caco-2	colon:	n/a	n/a
14	CTCF	chr7:27240700-27240850	BJ	skin:	n/a	n/a
15	CTCF	chr7:27240820-27240970	HMF	breast:	n/a	n/a
16	CTCF	chr7:27239620-27239770	Caco-2	colon:	n/a	n/a
17	CTCF	chr7:27240820-27240970	NHDF-neo	bronchial:	n/a	n/a
18	CTCF	chr7:27240859-27240937	MCF-7	breast:	n/a	n/a
19	CTCF	chr7:27240800-27240950	NB4	blood:	n/a	n/a
20	CTCF	chr7:27240820-27240970	AG10803	skin:	n/a	n/a
21	CTCF	chr7:27240887-27240943	Fibrobl	skin:	n/a	n/a
22	CTCF	chr7:27240834-27240957	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr7:27240780-27240930	AG10803	skin:	n/a	n/a
24	CTCF	chr7:27239560-27239710	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr7:27240720-27240870	A549	lung:	n/a	n/a
26	CTCF	chr7:27240760-27240910	AG09309	skin:	n/a	n/a
27	CTCF	chr7:27239903-27239962	MCF-7	breast:	n/a	n/a
28	CTCF	chr7:27238980-27239130	HEK293	kidney:	n/a	n/a
29	CTCF	chr7:27240800-27240950	NHDF-neo	bronchial:	n/a	n/a
30	CTCF	chr7:27240800-27240950	GM06990	blood:	n/a	n/a
31	CTCF	chr7:27240112-27240163	MCF-7	breast:	n/a	n/a
32	CTCF	chr7:27240780-27240930	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr7:27240104-27240111	MCF-7	breast:	n/a	n/a
34	CTCF	chr7:27239336-27239414	MCF-7	breast:	n/a	n/a
35	CTCF	chr7:27238980-27239130	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr7:27240855-27240944	NHEK	skin:	n/a	n/a
37	CTCF	chr7:27240740-27240890	MCF-7	breast:	n/a	n/a
38	CTCF	chr7:27238840-27238990	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr7:27238040-27238190	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr7:27240780-27240930	MCF-7	breast:	n/a	n/a
41	E2F6	chr7:27238704-27239250	A549	lung:	n/a	chr7:27239019-27239034
42	E2F6	chr7:27238895-27239293	H1-hESC	embryonic stem cell:	n/a	chr7:27239019-27239034
43	E2F6	chr7:27239491-27240324	A549	lung:	n/a	chr7:27239849-27239858
44	EGR1	chr7:27239790-27239953	K562	blood:	n/a	chr7:27239838-27239848 chr7:27239845-27239855
45	ELK1	chr7:27238953-27238955	Hela-S3	cervix:	n/a	n/a
46	ELK1	chr7:27240263-27240463	Hela-S3	cervix:	n/a	n/a
47	GABPA	chr7:27238822-27239271	H1-hESC	embryonic stem cell:	n/a	n/a
48	GTF2F1	chr7:27240215-27240448	Hela-S3	cervix:	n/a	n/a
49	HA-E2F1	chr7:27238955-27240153	Hela-S3	cervix:	n/a	chr7:27239849-27239858
50	HA-E2F1	chr7:27239614-27240361	MCF-7	breast:	n/a	chr7:27239849-27239858

(count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27239701-27239751	Hela-S3	cervix:	n/a
2	chr7:27239556-27239606	NH-A	brain:	n/a
3	chr7:27240246-27240296	SK-N-SH_RA	brain:	n/a
4	chr7:27239701-27239751	Hela-S3	cervix:	n/a
5	chr7:27239556-27239606	NH-A	brain:	n/a
6	chr7:27240246-27240296	SK-N-SH_RA	brain:	n/a
7	chr7:27239728-27239778	HepG2	liver:	n/a
8	chr7:27239556-27239606	K562	blood:	n/a
9	chr7:27240758-27240808	Jurkat	blood:	n/a
10	chr7:27238910-27238960	PFSK-1	brain:	n/a
11	chr7:27239701-27239751	NHBE	bronchial:	n/a
12	chr7:27239728-27239778	SAEC	small airway:	n/a
13	chr7:27239728-27239778	SKMC	muscle:	n/a
14	chr7:27240758-27240808	LNCaP	prostate:	n/a
15	chr7:27237893-27237943	Jurkat	blood:	n/a
16	chr7:27239728-27239778	U87	brain:	n/a
17	chr7:27240251-27240301	HUVEC	blood vessel:	n/a
18	chr7:27239701-27239751	AG10803	skin:	n/a
19	chr7:27240251-27240301	NH-A	brain:	n/a
20	chr7:27238279-27238329	SK-N-SH_RA	brain:	n/a
21	chr7:27240758-27240808	ovcar-3	ovarian:	n/a
22	chr7:27239556-27239606	SAEC	small airway:	n/a
23	chr7:27240181-27240231	Jurkat	blood:	n/a
24	chr7:27240181-27240231	MCF10A-Er-Src	breast:	n/a
25	chr7:27239556-27239606	AG04449	skin:	fetal
26	chr7:27237893-27237943	HL-60	blood:	n/a
27	chr7:27238910-27238960	ProgFib	skin:	n/a
28	chr7:27239763-27239813	SK-N-SH	brain:	n/a
29	chr7:27239701-27239751	NB4	blood:	n/a
30	chr7:27238279-27238329	SK-N-SH	brain:	n/a
31	chr7:27238910-27238960	MCF10A-Er-Src	breast:	n/a
32	chr7:27238910-27238960	H1-hESC	embryonic stem cell:	embryo
33	chr7:27238910-27238960	AG09309	skin:	n/a
34	chr7:27238279-27238329	HCT-116	colon:	n/a
35	chr7:27239763-27239813	Hela-S3	cervix:	n/a
36	chr7:27240758-27240808	GM19239	blood:	n/a
37	chr7:27238910-27238960	ovcar-3	ovarian:	n/a
38	chr7:27239728-27239778	Hela-S3	cervix:	n/a
39	chr7:27239763-27239813	GM19239	blood:	n/a
40	chr7:27239024-27239074	SK-N-SH	brain:	n/a
41	chr7:27240246-27240296	NB4	blood:	n/a
42	chr7:27238279-27238329	AG09309	skin:	n/a
43	chr7:27238279-27238329	BJ	skin:	n/a
44	chr7:27240181-27240231	BE2_C	brain:	n/a
45	chr7:27239763-27239813	HAEpiC	amniotic membrane:	n/a
46	chr7:27239556-27239606	HEK293	kidney:	embryo
47	chr7:27240251-27240301	T-47D	breast:	n/a
48	chr7:27238279-27238329	MCF10A-Er-Src	breast:	n/a
49	chr7:27238279-27238329	Jurkat	blood:	n/a
50	chr7:27239728-27239778	SK-N-SH_RA	brain:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:27162022-27164727..7:27238414-27242313	H1-hESC	embryonic stem cell:	embryo
2	7:27181770-27195105..7:27230275-27238414	GM12878	blood:
3	7:27130634-27137201..7:27230275-27238414	H1-hESC	embryonic stem cell:	embryo
4	7:27061277-27071265..7:27238414-27242313	Hela-S3	cervix:
5	7:27216170-27221403..7:27230275-27238414	H1-hESC	embryonic stem cell:	embryo
6	7:27230275-27238414..7:27282073-27287306	H1-hESC	embryonic stem cell:	embryo
7	chr7:27232082..27233586-chr7:27238989..27241639,2	MCF-7	breast:
8	chr7:27236687..27240147-chr7:27700482..27703881,4	MCF-7	breast:
9	7:27203007-27207968..7:27230275-27238414	H1-hESC	embryonic stem cell:	embryo
10	7:27165488-27167947..7:27230275-27238414	H1-hESC	embryonic stem cell:	embryo

(count:42 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EVX1-3	chr7:27240040-27240140	NR_037843
2	lnc-EVX1-3	chr7:27240040-27240140	ENSG00000243766
3	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766
4	lnc-EVX1-3	chr7:27240242-27241306	ENSG00000243766
5	lnc-EVX1-3	chr7:27240242-27241306	ENSG00000243766
6	lnc-EVX1-3	chr7:27240040-27240140	ENSG00000243766
7	lnc-EVX1-3	chr7:27240242-27240855	ENSG00000243766
8	lnc-EVX1-3	chr7:27238194-27238360	ENSG00000243766
9	lnc-EVX1-3	chr7:27240242-27242441	ENSG00000243766
10	lnc-EVX1-3	chr7:27240040-27240140	ENSG00000243766
11	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766.3
12	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766
13	lnc-EVX1-3	chr7:27240242-27241306	ENSG00000243766
14	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766.3
15	lnc-EVX1-3	chr7:27240242-27242441	ENSG00000243766
16	lnc-EVX1-3	chr7:27240242-27242441	ENSG00000243766
17	lnc-EVX1-3	chr7:27240242-27241442	ENSG00000243766.3
18	lnc-EVX1-3	chr7:27240040-27240140	ENSG00000243766
19	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766
20	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766
21	lnc-EVX1-3	chr7:27238194-27238360	ENSG00000243766
22	lnc-EVX1-3	chr7:27238194-27238360	ENSG00000243766
23	lnc-EVX1-3	chr7:27238194-27238360	ENSG00000243766
24	lnc-EVX1-3	chr7:27240242-27241442	ENSG00000243766.3
25	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766.3
26	lnc-EVX1-3	chr7:27240242-27241306	ENSG00000243766
27	lnc-EVX1-3	chr7:27240242-27242441	ENSG00000243766
28	lnc-EVX1-3	chr7:27240242-27241306	ENSG00000243766
29	lnc-EVX1-3	chr7:27240242-27240855	ENSG00000243766
30	lnc-EVX1-3	chr7:27240242-27241442	ENSG00000243766.3
31	lnc-EVX1-3	chr7:27238194-27238360	ENSG00000243766
32	lnc-EVX1-3	chr7:27240242-27241442	ENSG00000243766.3
33	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766
34	lnc-EVX1-3	chr7:27240242-27240855	ENSG00000243766
35	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766.3
36	lnc-EVX1-3	chr7:27240242-27240855	ENSG00000243766
37	lnc-EVX1-3	chr7:27240242-27242441	ENSG00000243766
38	lnc-EVX1-3	chr7:27240242-27240855	ENSG00000243766
39	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766.3
40	lnc-EVX1-3	chr7:27240040-27240140	ENSG00000243766
41	lnc-EVX1-3	chr7:27240242-27241442	ENSG00000243766.3
42	lnc-EVX1-3	chr7:27240242-27242257	NR_037843

No data

Variant related genes	Relation type
HOTTIP	TF binding region
HOXA13	TF binding region
ENSG00000253508	TF binding region
HOTTIP	CpG island
HOXA13	CpG island
ENSG00000253508	CpG island
ENSG00000253552	chromatin interactions
ENSG00000106006	chromatin interactions
ENSG00000253508	chromatin interactions
ENSG00000253293	chromatin interactions
ENSG00000253405	chromatin interactions
ENSG00000254369	chromatin interactions
ENSG00000106038	chromatin interactions
ENSG00000272801	chromatin interactions
ENSG00000273433	chromatin interactions
ENSG00000106049	chromatin interactions
ENSG00000106004	chromatin interactions
ENSG00000105991	chromatin interactions
ENSG00000257184	chromatin interactions
ENSG00000105997	chromatin interactions
ENSG00000266055	chromatin interactions
ENSG00000078399	chromatin interactions
ENSG00000214869	chromatin interactions
ENSG00000233429	chromatin interactions
HOXA11	lncRNA
HOXA9	lncRNA
HOXA13	lncRNA
HOXA7	lncRNA
HOXA10	lncRNA

Extended variants
information (count: 154 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:154 , 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	rs539703551	chr7:27237611-27237612	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
2	rs386711532	chr7:27237620-27237621	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
3	rs531905343	chr7:27237623-27237624	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
4	rs552000250	chr7:27237650-27237651	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
5	rs17472448	chr7:27237670-27237671	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs41303372	chr7:27237704-27237705	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
7	rs527841320	chr7:27237734-27237735	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
8	rs556198527	chr7:27237739-27237740	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
9	rs138250182	chr7:27237766-27237767	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
10	rs199530619	chr7:27237767-27237768	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
11	rs368079328	chr7:27237768-27237769	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
12	rs536675514	chr7:27237790-27237791	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
13	rs375825948	chr7:27237793-27237794	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
14	rs121912542	chr7:27237870-27237871	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
15	rs104894019	chr7:27237877-27237878	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
16	rs368423493	chr7:27237889-27237890	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
17	rs149615551	chr7:27237908-27237909	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs372300565	chr7:27237913-27237914	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
19	rs138584447	chr7:27237961-27237962	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
20	rs569973492	chr7:27237973-27237974	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
21	rs35608915	chr7:27237982-27237983	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
22	rs76529896	chr7:27238022-27238023	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
23	rs146259736	chr7:27238031-27238032	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
24	rs112749872	chr7:27238056-27238057	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
25	rs142315866	chr7:27238060-27238061	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
26	rs558767863	chr7:27238144-27238145	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
27	rs541839880	chr7:27238161-27238162	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
28	rs572286744	chr7:27238187-27238188	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs534783166	chr7:27238195-27238196	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
30	rs17472455	chr7:27238197-27238198	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs185939258	chr7:27238222-27238223	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
32	rs142077238	chr7:27238258-27238259	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
33	rs563137358	chr7:27238272-27238273	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
34	rs73073442	chr7:27238287-27238288	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs540841405	chr7:27238333-27238334	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
36	rs146295885	chr7:27238334-27238335	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
37	rs191977375	chr7:27238349-27238350	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
38	rs547560209	chr7:27238354-27238355	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
39	rs560444465	chr7:27238395-27238396	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs139530252	chr7:27238396-27238397	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs79988965	chr7:27238454-27238455	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs530127624	chr7:27238466-27238467	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs550195290	chr7:27238525-27238526	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs35940334	chr7:27238532-27238533	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs569953293	chr7:27238581-27238582	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs538981525	chr7:27238584-27238585	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs111606303	chr7:27238602-27238603	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs552522740	chr7:27238637-27238638	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs552794674	chr7:27238646-27238647	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs568133680	chr7:27238647-27238648	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:511 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27233000-27238200	Weak transcription	Pancreas	Pancrea
2	chr7:27233200-27238000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:27234200-27238200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
4	chr7:27236000-27238200	Enhancers	A549	lung
5	chr7:27236400-27240200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
6	chr7:27236800-27238600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:27237000-27239000	Bivalent/Poised TSS	Osteobl	bone
8	chr7:27237000-27240000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr7:27237200-27237600	Active TSS	Colonic Mucosa	Colon
10	chr7:27237200-27237600	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
11	chr7:27237200-27238400	Bivalent Enhancer	Dnd41	blood
12	chr7:27237200-27238600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
13	chr7:27237200-27238800	Bivalent/Poised TSS	Small Intestine	intestine
14	chr7:27237200-27239000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
15	chr7:27237200-27240400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:27237200-27240800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
17	chr7:27237400-27237600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:27237400-27237600	Flanking Bivalent TSS/Enh	Hela-S3	cervix
19	chr7:27237400-27238000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:27237400-27238600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:27237400-27238600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
22	chr7:27237400-27238600	Bivalent/Poised TSS	Placenta	Placenta
23	chr7:27237400-27238600	Active TSS	Right Atrium	heart
24	chr7:27237400-27239000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
25	chr7:27237400-27239000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:27237400-27240200	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
27	chr7:27237600-27237800	Active TSS	Hela-S3	cervix
28	chr7:27237600-27238000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
29	chr7:27237600-27238400	Bivalent/Poised TSS	NHDF-Ad	bronchial
30	chr7:27237600-27238600	Bivalent/Poised TSS	Colonic Mucosa	Colon
31	chr7:27237600-27238800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
32	chr7:27237800-27238000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr7:27237800-27238400	Flanking Active TSS	Hela-S3	cervix
34	chr7:27237800-27238600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
35	chr7:27237800-27238600	Bivalent Enhancer	HUVEC	blood vessel
36	chr7:27237800-27238800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
37	chr7:27237800-27239000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:27237800-27239000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
39	chr7:27237800-27239600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr7:27237800-27239600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr7:27237800-27240000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
42	chr7:27238000-27238200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:27238000-27238200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:27238000-27238200	Bivalent Enhancer	Left Ventricle	heart
45	chr7:27238000-27238200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
46	chr7:27238000-27238200	Bivalent Enhancer	Spleen	Spleen
47	chr7:27238000-27238600	Bivalent Enhancer	Primary T cells from cord blood	blood
48	chr7:27238000-27238800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
49	chr7:27238000-27238800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:27238000-27238800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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