Variant report

Variant	nsv5867
Chromosome Location	chr7:99766774-99799755
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:932)
CpG islands
(count:1652)
Chromatin interactive
region (count:53)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:932 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:99789523-99789556	K562	blood:	n/a	n/a
2	ARID3A	chr7:99774993-99775231	K562	blood:	n/a	n/a
3	ARID3A	chr7:99787661-99788019	K562	blood:	n/a	n/a
4	ATF1	chr7:99787776-99787991	K562	blood:	n/a	n/a
5	ATF1	chr7:99797716-99798175	K562	blood:	n/a	n/a
6	ATF2	chr7:99793579-99794110	GM12878	blood:	n/a	n/a
7	ATF2	chr7:99797635-99798231	GM12878	blood:	n/a	n/a
8	ATF2	chr7:99793594-99794068	GM12878	blood:	n/a	n/a
9	ATF3	chr7:99787600-99788077	K562	blood:	n/a	n/a
10	BACH1	chr7:99768819-99768999	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr7:99774790-99774807	K562	blood:	n/a	n/a
12	BATF	chr7:99794724-99795263	GM12878	blood:	n/a	n/a
13	BATF	chr7:99791772-99792003	GM12878	blood:	n/a	n/a
14	BATF	chr7:99791718-99791975	GM12878	blood:	n/a	n/a
15	BCL11A	chr7:99793731-99793986	GM12878	blood:	n/a	chr7:99793808-99793817
16	BCL11A	chr7:99797865-99798163	GM12878	blood:	n/a	n/a
17	BCL3	chr7:99775295-99775583	A549	lung:	n/a	n/a
18	BCLAF1	chr7:99797680-99798180	GM12878	blood:	n/a	chr7:99797710-99797719
19	BCLAF1	chr7:99793577-99794076	GM12878	blood:	n/a	chr7:99793808-99793817
20	BHLHE40	chr7:99793775-99793997	GM12878	blood:	n/a	n/a
21	BHLHE40	chr7:99797711-99798171	K562	blood:	n/a	n/a
22	BHLHE40	chr7:99797676-99798129	GM12878	blood:	n/a	n/a
23	BHLHE40	chr7:99775127-99775588	K562	blood:	n/a	n/a
24	BHLHE40	chr7:99775209-99775548	GM12878	blood:	n/a	n/a
25	BHLHE40	chr7:99789604-99789847	GM12878	blood:	n/a	n/a
26	BRCA1	chr7:99766774-99767016	HepG2	liver:	n/a	n/a
27	BRCA1	chr7:99775430-99775530	GM12878	blood:	n/a	n/a
28	BRCA1	chr7:99774749-99775129	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr7:99786769-99786836	H1-hESC	embryonic stem cell:	n/a	n/a
30	CBX3	chr7:99775027-99775776	K562	blood:	n/a	n/a
31	CBX3	chr7:99797600-99798270	K562	blood:	n/a	n/a
32	CBX3	chr7:99775217-99775585	K562	blood:	n/a	n/a
33	CCNT2	chr7:99774862-99775237	K562	blood:	n/a	chr7:99775070-99775079
34	CCNT2	chr7:99797820-99798114	K562	blood:	n/a	n/a
35	CEBPB	chr7:99774982-99775293	IMR90	lung:	n/a	n/a
36	CEBPB	chr7:99787742-99788023	A549	lung:	n/a	n/a
37	CEBPB	chr7:99775014-99775299	K562	blood:	n/a	n/a
38	CEBPB	chr7:99774987-99775308	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr7:99787728-99788031	IMR90	lung:	n/a	n/a
40	CEBPB	chr7:99789943-99790236	K562	blood:	n/a	chr7:99790097-99790108
41	CEBPB	chr7:99787684-99788054	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr7:99787718-99788137	A549	lung:	n/a	n/a
43	CEBPB	chr7:99789936-99790145	HepG2	liver:	n/a	chr7:99790097-99790108
44	CEBPB	chr7:99775071-99775537	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr7:99787597-99788134	K562	blood:	n/a	n/a
46	CEBPB	chr7:99775119-99775307	A549	lung:	n/a	n/a
47	CEBPB	chr7:99789953-99790151	A549	lung:	n/a	chr7:99790097-99790108
48	CEBPB	chr7:99789984-99790178	K562	blood:	n/a	chr7:99790097-99790108
49	CEBPB	chr7:99789405-99790280	IMR90	lung:	n/a	chr7:99790097-99790108
50	CEBPB	chr7:99790089-99790135	H1-hESC	embryonic stem cell:	n/a	chr7:99790097-99790108

(count:1652 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:99769558-99769608	NT2-D1	testis:	n/a
2	chr7:99771583-99771633	HCM	heart:	n/a
3	chr7:99767035-99767085	HepG2	liver:	n/a
4	chr7:99767134-99767184	MCF10A-Er-Src	breast:	n/a
5	chr7:99775012-99775062	ProgFib	skin:	n/a
6	chr7:99769558-99769608	NT2-D1	testis:	n/a
7	chr7:99771583-99771633	HCM	heart:	n/a
8	chr7:99767035-99767085	HepG2	liver:	n/a
9	chr7:99767134-99767184	MCF10A-Er-Src	breast:	n/a
10	chr7:99775012-99775062	ProgFib	skin:	n/a
11	chr7:99773786-99773836	NH-A	brain:	n/a
12	chr7:99775422-99775472	HRCEpiC	kidney:	n/a
13	chr7:99775422-99775472	A549	lung:	n/a
14	chr7:99778414-99778464	HCM	heart:	n/a
15	chr7:99775521-99775571	Hepatocyte	liver:	n/a
16	chr7:99767134-99767184	NH-A	brain:	n/a
17	chr7:99775043-99775093	U87	brain:	n/a
18	chr7:99775532-99775582	HEK293	kidney:	embryo
19	chr7:99775422-99775472	SK-N-SH_RA	brain:	n/a
20	chr7:99775521-99775571	SKMC	muscle:	n/a
21	chr7:99769602-99769652	HL-60	blood:	n/a
22	chr7:99775207-99775257	AG09319	gingival:	n/a
23	chr7:99769602-99769652	HRE	kidney:	n/a
24	chr7:99775179-99775229	ECC-1	luminal epithelium:	n/a
25	chr7:99768028-99768078	NH-A	brain:	n/a
26	chr7:99775179-99775229	Jurkat	blood:	n/a
27	chr7:99775012-99775062	HepG2	liver:	n/a
28	chr7:99767035-99767085	A549	lung:	n/a
29	chr7:99775521-99775571	K562	blood:	n/a
30	chr7:99771583-99771633	Jurkat	blood:	n/a
31	chr7:99775558-99775608	SK-N-SH	brain:	n/a
32	chr7:99775422-99775472	BE2_C	brain:	n/a
33	chr7:99775862-99775912	RPTEC	kidney:	n/a
34	chr7:99775422-99775472	ECC-1	luminal epithelium:	n/a
35	chr7:99768885-99768935	H1-hESC	embryonic stem cell:	embryo
36	chr7:99775422-99775472	NT2-D1	testis:	n/a
37	chr7:99768028-99768078	PFSK-1	brain:	n/a
38	chr7:99771508-99771558	HEK293	kidney:	embryo
39	chr7:99775508-99775558	ovcar-3	ovarian:	n/a
40	chr7:99771508-99771558	SKMC	muscle:	n/a
41	chr7:99775443-99775493	ovcar-3	ovarian:	n/a
42	chr7:99775443-99775493	U87	brain:	n/a
43	chr7:99775012-99775062	GM06990	blood:	n/a
44	chr7:99775521-99775571	HepG2	liver:	n/a
45	chr7:99774935-99774985	HAEpiC	amniotic membrane:	n/a
46	chr7:99775134-99775184	K562	blood:	n/a
47	chr7:99775422-99775472	NB4	blood:	n/a
48	chr7:99767035-99767085	IMR90	lung:	fetal
49	chr7:99775521-99775571	RPTEC	kidney:	n/a
50	chr7:99775558-99775608	HCM	heart:	n/a

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:99753430..99757124-chr7:99772344..99777147,8	MCF-7	breast:
2	chr7:99780980..99783660-chr7:99788379..99790159,2	K562	blood:
3	chr7:99797078..99799692-chr7:99801985..99803908,2	MCF-7	breast:
4	chr7:99687387..99689514-chr7:99773501..99775690,2	MCF-7	breast:
5	chr7:99697328..99700192-chr7:99766386..99767944,2	MCF-7	breast:
6	chr7:99767104..99770027-chr7:99772999..99775636,2	MCF-7	breast:
7	chr7:99767272..99770756-chr7:99771153..99775151,5	MCF-7	breast:
8	chr7:99684721..99686749-chr7:99787610..99789461,2	K562	blood:
9	chr7:99754722..99756227-chr7:99770103..99772274,2	MCF-7	breast:
10	chr7:99770423..99772860-chr7:100025787..100027522,2	MCF-7	breast:
11	chr7:99788520..99793018-chr7:99795326..99799356,4	K562	blood:
12	chr7:99771880..99773648-chr7:99773808..99775358,2	MCF-7	breast:
13	chr7:99745116..99747066-chr7:99785481..99787854,2	K562	blood:
14	chr7:99767272..99770756-chr7:99771153..99775151,5	MCF-7	breast:
15	chr7:99781434..99783294-chr7:100007370..100009844,2	K562	blood:
16	chr7:99794786..99797012-chr7:99801296..99803017,2	K562	blood:
17	chr7:99795781..99801540-chr7:99806649..99812120,7	K562	blood:
18	chr7:99763454..99766181-chr7:99772749..99774869,2	K562	blood:
19	chr7:99755258..99758996-chr7:99773394..99775783,3	MCF-7	breast:
20	chr7:99764650..99767201-chr7:99768632..99771682,4	MCF-7	breast:
21	chr7:99765936..99768056-chr7:99933468..99935315,2	MCF-7	breast:
22	chr7:99764650..99767201-chr7:99768632..99771682,4	MCF-7	breast:
23	chr7:99772958..99774501-chr7:99782024..99784023,2	MCF-7	breast:
24	chr7:99775409..99777327-chr7:99786470..99788338,2	K562	blood:
25	chr7:99799220..99802081-chr7:100025675..100027787,2	K562	blood:
26	chr7:99775736..99777302-chr7:99796060..99798252,2	K562	blood:
27	chr16:88796831..88799355-chr7:99773694..99775214,2	K562	blood:
28	chr7:99732120..99733625-chr7:99770101..99771753,2	K562	blood:
29	chr7:99753295..99755968-chr7:99764966..99767548,3	K562	blood:
30	chr7:99755120..99757903-chr7:99766969..99769742,4	K562	blood:
31	chr7:99723966..99726705-chr7:99773626..99776513,3	K562	blood:
32	chr7:99767011..99769810-chr7:99997937..100000138,2	MCF-7	breast:
33	chr7:99722989..99725299-chr7:99765858..99767612,2	MCF-7	breast:
34	chr7:99780980..99783660-chr7:99788379..99790159,2	K562	blood:
35	chr7:99761601..99763212-chr7:99780948..99783504,2	K562	blood:
36	chr7:99791489..99794024-chr7:99807798..99809792,2	K562	blood:
37	chr7:99796687..99799289-chr7:100025322..100027560,2	K562	blood:
38	chr7:99744806..99746598-chr7:99796497..99798549,2	K562	blood:
39	chr7:99754637..99756174-chr7:99779153..99781591,2	MCF-7	breast:
40	chr7:99754799..99757162-chr7:99770359..99773122,3	MCF-7	breast:
41	chr7:99790117..99792841-chr7:99796413..99798138,2	K562	blood:
42	chr7:99773665..99775916-chr7:99787263..99789556,2	MCF-7	breast:
43	chr7:99744806..99747397-chr7:99797049..99799857,2	K562	blood:
44	chr7:99751463..99761050-chr7:99772463..99778676,10	K562	blood:
45	chr7:99771880..99773648-chr7:99773808..99775358,2	MCF-7	breast:
46	chr7:99767104..99770027-chr7:99772999..99775636,2	MCF-7	breast:
47	chr7:99797808..99801591-chr7:99802250..99804535,3	K562	blood:
48	chr7:99717080..99719832-chr7:99772182..99775023,2	MCF-7	breast:
49	chr7:99789510..99791213-chr7:99808117..99810695,2	K562	blood:
50	chr7:99749770..99752333-chr7:99765768..99768227,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C7orf59-1	chr7:99778116-99778518	NONHSAT122344
2	lnc-C7orf59-1	chr7:99775560-99775628	NONHSAT122344

No data

Variant related genes	Relation type
GAL3ST4	TF binding region
STAG3	TF binding region
GPC2	TF binding region
GAL3ST4	CpG island
STAG3	CpG island
GPC2	CpG island
ENSG00000242294	chromatin interactions
ENSG00000146826	chromatin interactions
ENSG00000168090	chromatin interactions
ENSG00000188186	chromatin interactions
ENSG00000272752	chromatin interactions
ENSG00000121716	chromatin interactions
ENSG00000221838	chromatin interactions
ENSG00000066923	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000106290	chromatin interactions
ENSG00000266154	chromatin interactions
ENSG00000197093	chromatin interactions
ENSG00000224888	chromatin interactions
ENSG00000213420	chromatin interactions
ENSG00000166508	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000242798	chromatin interactions
ENSG00000239521	chromatin interactions
ENSG00000214309	chromatin interactions
ENSG00000166997	chromatin interactions

Extended variants
information (count: 1298 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1298 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571640577	chr7:99766813-99766814	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs186982357	chr7:99766860-99766861	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs554278777	chr7:99766870-99766871	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs536592259	chr7:99766915-99766916	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs546440510	chr7:99766926-99766927	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs397888876	chr7:99766945-99766946	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs568987908	chr7:99767086-99767087	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs373894935	chr7:99767106-99767107	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs572444704	chr7:99767114-99767115	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs540430374	chr7:99767134-99767135	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs555559275	chr7:99767145-99767146	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs574000314	chr7:99767170-99767171	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs368569206	chr7:99767178-99767179	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs190783766	chr7:99767252-99767253	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs10260650	chr7:99767269-99767270	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs185030605	chr7:99767317-99767318	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs560242676	chr7:99767349-99767350	Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs189831862	chr7:99767449-99767450	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs549177324	chr7:99767453-99767454	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs182522164	chr7:99767488-99767489	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs372290975	chr7:99767563-99767564	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs1918353	chr7:99767587-99767588	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs571836504	chr7:99767685-99767686	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs534789620	chr7:99767691-99767692	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs547427578	chr7:99767698-99767699	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs372290456	chr7:99767705-99767706	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs566185615	chr7:99767769-99767770	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs138791019	chr7:99767773-99767774	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs552804498	chr7:99767775-99767776	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs555622708	chr7:99767782-99767783	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs535396569	chr7:99767809-99767810	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs141656108	chr7:99767852-99767853	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs538022806	chr7:99767857-99767858	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs369621356	chr7:99767858-99767859	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs373220994	chr7:99767883-99767884	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs376498412	chr7:99767891-99767892	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs201638394	chr7:99767894-99767895	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs150534704	chr7:99767900-99767901	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs139536302	chr7:99767923-99767924	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs373173951	chr7:99767932-99767933	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs377442808	chr7:99767933-99767934	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs372657078	chr7:99767945-99767946	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs149415462	chr7:99768030-99768031	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs143144193	chr7:99768090-99768091	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs199992794	chr7:99768097-99768098	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs146672512	chr7:99768106-99768107	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs202235331	chr7:99768110-99768111	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs373845698	chr7:99768124-99768125	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs571825486	chr7:99768131-99768132	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs542340413	chr7:99768135-99768136	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Stenocardia	21860640	CNVD
Vasospasm	21860640	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
Acute lymphoblastic leukemia	21339820	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
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:1295 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99763800-99766800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
2	chr7:99763800-99767200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr7:99763800-99767200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:99764400-99766800	Flanking Active TSS	Fetal Thymus	thymus
5	chr7:99764600-99766800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
6	chr7:99764600-99767400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr7:99765000-99766800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr7:99765000-99766800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:99765000-99767200	Bivalent Enhancer	Fetal Brain Male	brain
10	chr7:99765400-99766800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
11	chr7:99765400-99766800	Bivalent/Poised TSS	Fetal Brain Female	brain
12	chr7:99765400-99768600	Weak transcription	Small Intestine	intestine
13	chr7:99765600-99766800	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr7:99765600-99766800	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr7:99765600-99766800	Flanking Bivalent TSS/Enh	HepG2	liver
16	chr7:99765800-99766800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr7:99765800-99766800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr7:99766000-99766800	Enhancers	Primary hematopoietic stem cells	blood
19	chr7:99766000-99766800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:99766000-99766800	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr7:99766000-99767000	Enhancers	Stomach Mucosa	stomach
22	chr7:99766000-99767200	Flanking Active TSS	Thymus	Thymus
23	chr7:99766000-99768800	Weak transcription	Lung	lung
24	chr7:99766200-99766800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:99766200-99766800	Flanking Active TSS	Fetal Muscle Trunk	muscle
26	chr7:99766200-99768600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:99766200-99768800	Weak transcription	Gastric	stomach
28	chr7:99766200-99768800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr7:99766200-99769000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr7:99766400-99766800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:99766400-99766800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr7:99766400-99766800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr7:99766400-99766800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr7:99766400-99766800	Bivalent Enhancer	Primary B cells from cord blood	blood
35	chr7:99766400-99766800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr7:99766400-99766800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:99766400-99766800	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr7:99766400-99766800	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr7:99766400-99766800	Flanking Active TSS	Fetal Lung	lung
40	chr7:99766400-99766800	Enhancers	Placenta	Placenta
41	chr7:99766400-99766800	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr7:99766400-99766800	Enhancers	Spleen	Spleen
43	chr7:99766400-99768800	Weak transcription	Esophagus	oesophagus
44	chr7:99766400-99768800	Weak transcription	HMEC	breast
45	chr7:99766400-99770000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr7:99766600-99766800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr7:99766600-99766800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:99766600-99766800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:99766600-99766800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:99766600-99766800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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