Variant report

Variant	esv20678
Chromosome Location	chr7:101457194-101460796
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	chr7:101457908-101458208	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:101459122-101459322	K562	blood:	n/a	n/a
3	ARID3A	chr7:101457931-101458268	K562	blood:	n/a	n/a
4	ARID3A	chr7:101457553-101457564	K562	blood:	n/a	n/a
5	ARID3A	chr7:101458733-101458746	K562	blood:	n/a	n/a
6	ARID3A	chr7:101459131-101459413	HepG2	liver:	n/a	n/a
7	ATF2	chr7:101458101-101458498	GM12878	blood:	n/a	n/a
8	ATF3	chr7:101457363-101457672	K562	blood:	n/a	n/a
9	ATF3	chr7:101457418-101457586	GM12878	blood:	n/a	n/a
10	BACH1	chr7:101457603-101458687	K562	blood:	n/a	n/a
11	BACH1	chr7:101457199-101459068	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr7:101457516-101458463	A549	lung:	n/a	chr7:101457612-101457625 chr7:101457901-101457910 chr7:101457611-101457624
13	BCL3	chr7:101457787-101458519	A549	lung:	n/a	chr7:101457901-101457910
14	BCLAF1	chr7:101459102-101459390	GM12878	blood:	n/a	chr7:101459194-101459203 chr7:101459195-101459208 chr7:101459191-101459200 chr7:101459190-101459203 chr7:101459192-101459205 chr7:101459193-101459206
15	BCLAF1	chr7:101458272-101458826	GM12878	blood:	n/a	n/a
16	BCLAF1	chr7:101457355-101457766	GM12878	blood:	n/a	chr7:101457612-101457625 chr7:101457379-101457388 chr7:101457380-101457393 chr7:101457611-101457624
17	BHLHE40	chr7:101457347-101457733	A549	lung:	n/a	chr7:101457525-101457534 chr7:101457526-101457535 chr7:101457526-101457535
18	BHLHE40	chr7:101460410-101461301	K562	blood:	n/a	chr7:101460862-101460871 chr7:101460862-101460871
19	BHLHE40	chr7:101457327-101459370	HepG2	liver:	n/a	chr7:101457525-101457534 chr7:101459184-101459200 chr7:101459190-101459206 chr7:101457526-101457535 chr7:101457526-101457535
20	BHLHE40	chr7:101460395-101461320	HepG2	liver:	n/a	chr7:101460862-101460871 chr7:101460862-101460871 chr7:101460397-101460413
21	BHLHE40	chr7:101457090-101459369	K562	blood:	n/a	chr7:101457525-101457534 chr7:101459184-101459200 chr7:101459190-101459206 chr7:101457526-101457535 chr7:101457526-101457535
22	BHLHE40	chr7:101460385-101461244	GM12878	blood:	n/a	chr7:101460862-101460871 chr7:101460862-101460871 chr7:101460397-101460413
23	BHLHE40	chr7:101460711-101461216	A549	lung:	n/a	chr7:101460862-101460871 chr7:101460862-101460871
24	BHLHE40	chr7:101460741-101460945	HepG2	liver:	n/a	chr7:101460862-101460871 chr7:101460862-101460871
25	BHLHE40	chr7:101457382-101457624	HepG2	liver:	n/a	chr7:101457525-101457534 chr7:101457526-101457535 chr7:101457526-101457535
26	BHLHE40	chr7:101457373-101457700	HepG2	liver:	n/a	chr7:101457525-101457534 chr7:101457526-101457535 chr7:101457526-101457535
27	BHLHE40	chr7:101456922-101459373	GM12878	blood:	n/a	chr7:101457525-101457534 chr7:101459184-101459200 chr7:101459190-101459206 chr7:101457526-101457535 chr7:101457526-101457535
28	BRCA1	chr7:101456809-101458457	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr7:101459233-101459305	Hela-S3	cervix:	n/a	n/a
30	CBX3	chr7:101457349-101457748	K562	blood:	n/a	n/a
31	CBX3	chr7:101457037-101457798	K562	blood:	n/a	n/a
32	CCNT2	chr7:101459826-101461251	K562	blood:	n/a	n/a
33	CCNT2	chr7:101457374-101457839	K562	blood:	n/a	chr7:101457374-101457383
34	CCNT2	chr7:101458354-101459570	K562	blood:	n/a	chr7:101459541-101459550 chr7:101458875-101458884 chr7:101458998-101459007
35	CEBPB	chr7:101458017-101458543	GM12878	blood:	n/a	n/a
36	CEBPB	chr7:101457801-101458438	K562	blood:	n/a	n/a
37	CEBPB	chr7:101456838-101458561	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr7:101459164-101459413	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr7:101459231-101459395	K562	blood:	n/a	n/a
40	CEBPD	chr7:101459070-101459452	HepG2	liver:	n/a	n/a
41	CEBPD	chr7:101458512-101458754	HepG2	liver:	n/a	n/a
42	CEBPD	chr7:101458792-101459017	HepG2	liver:	n/a	n/a
43	CEBPD	chr7:101457437-101457695	HepG2	liver:	n/a	n/a
44	CEBPD	chr7:101458795-101459003	HepG2	liver:	n/a	n/a
45	CHD1	chr7:101457526-101459461	GM12878	blood:	n/a	n/a
46	CHD1	chr7:101459801-101462372	IMR90	lung:	n/a	chr7:101460415-101460425
47	CHD1	chr7:101457396-101459725	IMR90	lung:	n/a	n/a
48	CHD1	chr7:101460514-101460951	GM12878	blood:	n/a	n/a
49	CHD2	chr7:101458159-101458235	HepG2	liver:	n/a	n/a
50	CHD2	chr7:101459157-101459312	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:101459954-101460004	GM12892	blood:	n/a
2	chr7:101459954-101460004	GM12892	blood:	n/a
3	chr7:101459386-101459436	GM12878	blood:	n/a
4	chr7:101457812-101457862	GM06990	blood:	n/a
5	chr7:101459292-101459342	BE2_C	brain:	n/a
6	chr7:101459024-101459074	Caco-2	colon:	n/a
7	chr7:101459954-101460004	AG09319	gingival:	n/a
8	chr7:101459292-101459342	ProgFib	skin:	n/a
9	chr7:101459954-101460004	HEEpiC	esophagus:	n/a
10	chr7:101457447-101457497	GM12878	blood:	n/a
11	chr7:101459386-101459436	NT2-D1	testis:	n/a
12	chr7:101457359-101457409	HUVEC	blood vessel:	n/a
13	chr7:101459283-101459333	GM12878	blood:	n/a
14	chr7:101459024-101459074	PrEC	prostate:	n/a
15	chr7:101457175-101457225	AG04449	skin:	fetal
16	chr7:101459283-101459333	GM12891	blood:	n/a
17	chr7:101458740-101458790	HMEC	breast:	n/a
18	chr7:101459024-101459074	NH-A	brain:	n/a
19	chr7:101457447-101457497	AG09319	gingival:	n/a
20	chr7:101457359-101457409	AG04450	lung:	fetal
21	chr7:101459024-101459074	LNCaP	prostate:	n/a
22	chr7:101460415-101460465	AG04449	skin:	fetal
23	chr7:101457647-101457697	HL-60	blood:	n/a
24	chr7:101457359-101457409	AoSMC	blood vessel:	n/a
25	chr7:101457175-101457225	ECC-1	luminal epithelium:	n/a
26	chr7:101459024-101459074	AG10803	skin:	n/a
27	chr7:101458433-101458483	HAEpiC	amniotic membrane:	n/a
28	chr7:101457812-101457862	SK-N-MC	brain:	n/a
29	chr7:101458740-101458790	BJ	skin:	n/a
30	chr7:101458433-101458483	BJ	skin:	n/a
31	chr7:101459024-101459074	AG04449	skin:	fetal
32	chr7:101457359-101457409	HRE	kidney:	n/a
33	chr7:101458365-101458415	AG09309	skin:	n/a
34	chr7:101458365-101458415	BJ	skin:	n/a
35	chr7:101458433-101458483	PFSK-1	brain:	n/a
36	chr7:101457447-101457497	HUVEC	blood vessel:	n/a
37	chr7:101458740-101458790	MCF10A-Er-Src	breast:	n/a
38	chr7:101457447-101457497	ECC-1	luminal epithelium:	n/a
39	chr7:101460415-101460465	HIPEpiC	eye:	n/a
40	chr7:101457647-101457697	U87	brain:	n/a
41	chr7:101459292-101459342	NHBE	bronchial:	n/a
42	chr7:101458433-101458483	NT2-D1	testis:	n/a
43	chr7:101458365-101458415	HUVEC	blood vessel:	n/a
44	chr7:101457447-101457497	SK-N-SH_RA	brain:	n/a
45	chr7:101459386-101459436	AG10803	skin:	n/a
46	chr7:101457359-101457409	BJ	skin:	n/a
47	chr7:101459024-101459074	NT2-D1	testis:	n/a
48	chr7:101458365-101458415	AG04449	skin:	fetal
49	chr7:101459386-101459436	RPTEC	kidney:	n/a
50	chr7:101457447-101457497	HMEC	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:201682650..201683305-chr7:101457575..101458388,2	Hela-S3	cervix:
2	chr7:101451313..101452903-chr7:101455577..101457484,2	K562	blood:
3	chr15:52469891..52472535-chr7:101457623..101459859,2	MCF-7	breast:
4	chr7:101330663..101332938-chr7:101456021..101458863,3	K562	blood:
5	chr1:6268950..6269450-chr7:101457184..101457840,2	MCF-7	breast:
6	chr20:39764220..39767002-chr7:101458142..101460292,2	MCF-7	breast:
7	chr7:101456128..101458480-chr7:101471279..101473363,2	K562	blood:
8	chr7:101195035..101196752-chr7:101457071..101459067,2	MCF-7	breast:
9	chr7:101331319..101332632-chr7:101457135..101458012,7	MCF-7	breast:
10	chr7:101456296..101461488-chr7:101913983..101918398,7	MCF-7	breast:
11	chr13:48611688..48613332-chr7:101457559..101460225,2	MCF-7	breast:
12	chr7:101448496..101448999-chr7:101457160..101457885,2	MCF-7	breast:
13	chr7:101457570..101460867-chr7:101928374..101931760,6	MCF-7	breast:
14	chr1:6267970..6270950-chr7:101455402..101457329,2	K562	blood:
15	chr2:207024339..207026427-chr7:101458417..101459962,2	MCF-7	breast:
16	chr12:56572158..56573016-chr7:101457560..101458297,2	Hela-S3	cervix:
17	chr7:101245091..101246357-chr7:101457101..101458459,9	MCF-7	breast:
18	chr7:101271948..101273835-chr7:101457651..101460196,2	MCF-7	breast:
19	chr7:101457026..101461124-chr7:101554455..101559051,6	MCF-7	breast:
20	chr7:101245522..101246394-chr7:101457419..101458061,2	K562	blood:
21	chr7:101331265..101332297-chr7:101457072..101458122,8	K562	blood:
22	chr1:156084197..156084939-chr7:101457529..101458250,2	Hela-S3	cervix:
23	chr7:101338626..101341236-chr7:101455601..101457433,2	K562	blood:
24	chr16:2818449..2821278-chr7:101459206..101460777,2	MCF-7	breast:
25	chr7:101456865..101462678-chr7:101466062..101470276,9	MCF-7	breast:
26	chr10:126849675..126850175-chr7:101459356..101459877,2	Hela-S3	cervix:
27	chr1:149222882..149224744-chr7:101459055..101461575,2	MCF-7	breast:
28	chr7:101185071..101186578-chr7:101457268..101458103,4	MCF-7	breast:
29	chr12:125398918..125401326-chr7:101458032..101459768,2	K562	blood:
30	chr12:53297960..53298460-chr7:101458053..101458556,2	Hela-S3	cervix:
31	chr3:127394387..127395170-chr7:101458070..101458842,2	Hela-S3	cervix:
32	chr7:101455693..101458203-chr7:101915599..101917150,2	MCF-7	breast:
33	chr7:101331355..101332298-chr7:101457115..101458094,12	MCF-7	breast:
34	chr1:28836517..28839239-chr7:101457794..101459450,2	MCF-7	breast:
35	chr11:134527652..134528152-chr7:101457119..101458073,2	K562	blood:

Variant related genes	Relation type
CUX1	TF binding region
CUX1	CpG island
ENSG00000206737	chromatin interactions
ENSG00000160999	chromatin interactions
ENSG00000160963	chromatin interactions
ENSG00000259294	chromatin interactions
ENSG00000150991	chromatin interactions
ENSG00000265864	chromatin interactions
ENSG00000136159	chromatin interactions
ENSG00000160789	chromatin interactions
ENSG00000114626	chromatin interactions
ENSG00000139613	chromatin interactions
ENSG00000114942	chromatin interactions
ENSG00000180198	chromatin interactions
ENSG00000226648	chromatin interactions
ENSG00000167978	chromatin interactions
ENSG00000265345	chromatin interactions
ENSG00000069966	chromatin interactions
ENSG00000106436	chromatin interactions
ENSG00000116251	chromatin interactions
ENSG00000158286	chromatin interactions
ENSG00000259577	chromatin interactions
ENSG00000124181	chromatin interactions
ENSG00000136143	chromatin interactions
ENSG00000175029	chromatin interactions
ENSG00000257923	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368401346	chr7:101457260-101457261	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs539426436	chr7:101457286-101457287	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs576013397	chr7:101457366-101457367	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs557419395	chr7:101457372-101457373	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs12539667	chr7:101457378-101457379	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs572646465	chr7:101457418-101457419	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs539928587	chr7:101457493-101457494	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs78053614	chr7:101457497-101457498	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs397949810	chr7:101457498-101457499	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs113661222	chr7:101457588-101457589	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs536699801	chr7:101457601-101457602	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs141015582	chr7:101457611-101457612	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs371562619	chr7:101457680-101457681	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs544044783	chr7:101457737-101457738	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs562812005	chr7:101457742-101457743	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs567008268	chr7:101457786-101457787	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs76299140	chr7:101457798-101457799	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs537478812	chr7:101457828-101457829	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs73712554	chr7:101457829-101457830	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs564465252	chr7:101457840-101457841	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs528631954	chr7:101457882-101457883	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs150190354	chr7:101457885-101457886	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs71559430	chr7:101457914-101457915	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs73712555	chr7:101457917-101457918	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs577023396	chr7:101457954-101457955	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs116944819	chr7:101457977-101457978	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs191433058	chr7:101458089-101458090	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
28	rs530324437	chr7:101458142-101458143	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
29	rs10257345	chr7:101458144-101458145	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs572486476	chr7:101458190-101458191	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
31	rs533518887	chr7:101458197-101458198	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
32	rs184152015	chr7:101458215-101458216	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
33	rs11761339	chr7:101458429-101458430	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
34	rs559367504	chr7:101458439-101458440	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
35	rs544399632	chr7:101458456-101458457	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
36	rs34923282	chr7:101458512-101458513	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
37	rs577909816	chr7:101458519-101458520	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
38	rs544958711	chr7:101458538-101458539	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
39	rs10257848	chr7:101458552-101458553	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs528517004	chr7:101458557-101458558	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
41	rs527252143	chr7:101458562-101458563	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
42	rs552305318	chr7:101458578-101458579	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
43	rs546981045	chr7:101458590-101458591	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs562171182	chr7:101458602-101458603	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	rs139202931	chr7:101458613-101458614	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs529320867	chr7:101458654-101458655	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
47	rs374946927	chr7:101458701-101458702	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
48	rs570524136	chr7:101458725-101458726	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
49	rs369968836	chr7:101458731-101458732	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
50	rs35110270	chr7:101458755-101458756	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	19907438	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:450 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101436800-101457400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:101456400-101457400	Enhancers	Small Intestine	intestine
3	chr7:101456600-101457200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
4	chr7:101456600-101457400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:101456600-101457600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:101456800-101457200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:101456800-101457200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:101456800-101457200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:101456800-101457200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:101456800-101457200	Enhancers	Brain Hippocampus Middle	brain
11	chr7:101456800-101457200	Enhancers	Fetal Intestine Small	intestine
12	chr7:101456800-101457200	Enhancers	Fetal Stomach	stomach
13	chr7:101456800-101457200	Flanking Active TSS	A549	lung
14	chr7:101456800-101457200	Flanking Active TSS	K562	blood
15	chr7:101456800-101457200	Enhancers	NHDF-Ad	bronchial
16	chr7:101456800-101457400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr7:101456800-101457400	Enhancers	Liver	Liver
18	chr7:101456800-101457400	Enhancers	Fetal Thymus	thymus
19	chr7:101456800-101459400	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr7:101456800-101460800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:101457000-101457200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr7:101457000-101457200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:101457000-101457200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr7:101457000-101457200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
25	chr7:101457000-101457200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
26	chr7:101457000-101457200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:101457000-101457200	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr7:101457000-101457200	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr7:101457000-101457200	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr7:101457000-101457200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr7:101457000-101457200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr7:101457000-101457200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:101457000-101457200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:101457000-101457200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr7:101457000-101457200	Enhancers	Duodenum Mucosa	Duodenum
36	chr7:101457000-101457200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr7:101457000-101457200	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr7:101457000-101457200	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr7:101457000-101457200	Enhancers	Stomach Mucosa	stomach
40	chr7:101457000-101457200	Enhancers	HUVEC	blood vessel
41	chr7:101457000-101457200	Enhancers	Osteobl	bone
42	chr7:101457000-101457400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr7:101457000-101457400	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr7:101457000-101457400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr7:101457000-101457400	Enhancers	HepG2	liver
46	chr7:101457000-101457600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:101457000-101457600	Active TSS	Stomach Smooth Muscle	stomach
48	chr7:101457000-101457600	Active TSS	HMEC	breast
49	chr7:101457000-101457600	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr7:101457000-101457600	Active TSS	NHEK	skin

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