Variant report

Variant	nsv971144
Chromosome Location	chr7:121950027-121953468
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:550)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr7:121950643-121951014	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr7:121951869-121951873	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr7:121950430-121950606	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr7:121950368-121950523	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr7:121950743-121950984	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD1	chr7:121950056-121951096	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr7:121950655-121950954	H1-hESC	embryonic stem cell:	n/a	n/a
8	CREB1	chr7:121951832-121952166	H1-hESC	embryonic stem cell:	n/a	chr7:121951966-121951979
9	CREB1	chr7:121951779-121952143	HepG2	liver:	n/a	chr7:121951966-121951979
10	CREB1	chr7:121951459-121952279	H1-hESC	embryonic stem cell:	n/a	chr7:121951966-121951979
11	CTBP2	chr7:121950185-121951225	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr7:121950822-121950925	H1-hESC	embryonic stem cell:	n/a	chr7:121950889-121950905
13	CTCF	chr7:121950804-121951072	H1-hESC	embryonic stem cell:	n/a	chr7:121950889-121950905
14	CTCF	chr7:121950819-121950821	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr7:121950820-121950970	HBMEC	blood vessel:	n/a	chr7:121950889-121950905
16	CTCF	chr7:121950620-121950770	GM12871	blood:	n/a	n/a
17	CTCF	chr7:121950856-121950962	Medullo	brain:	n/a	chr7:121950889-121950905
18	CTCF	chr7:121950800-121950950	HA-sp	spinal cord:	n/a	chr7:121950889-121950905
19	CTCF	chr7:121952240-121952390	SAEC	small airway:	n/a	n/a
20	E2F6	chr7:121951311-121952074	H1-hESC	embryonic stem cell:	n/a	chr7:121951969-121951978 chr7:121951583-121951595 chr7:121951967-121951976
21	EBF1	chr7:121950423-121950457	GM12878	blood:	n/a	n/a
22	EGR1	chr7:121950559-121951016	H1-hESC	embryonic stem cell:	n/a	chr7:121950894-121950904 chr7:121950892-121950905
23	EP300	chr7:121950618-121951010	H1-hESC	embryonic stem cell:	n/a	chr7:121950897-121950906 chr7:121950652-121950668
24	GTF2F1	chr7:121951548-121951741	H1-hESC	embryonic stem cell:	n/a	n/a
25	GTF2F1	chr7:121950691-121950891	H1-hESC	embryonic stem cell:	n/a	n/a
26	GTF2F1	chr7:121952286-121952288	H1-hESC	embryonic stem cell:	n/a	n/a
27	HDAC2	chr7:121950707-121950958	H1-hESC	embryonic stem cell:	n/a	n/a
28	JUN	chr7:121950769-121951188	H1-hESC	embryonic stem cell:	n/a	n/a
29	JUN	chr7:121951802-121951920	H1-hESC	embryonic stem cell:	n/a	n/a
30	JUND	chr7:121950746-121950897	H1-hESC	embryonic stem cell:	n/a	n/a
31	JUND	chr7:121950583-121951006	H1-hESC	embryonic stem cell:	n/a	n/a
32	JUND	chr7:121951853-121952195	H1-hESC	embryonic stem cell:	n/a	chr7:121951968-121951977
33	MAX	chr7:121951381-121951709	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr7:121950428-121951107	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAX	chr7:121950598-121951073	H1-hESC	embryonic stem cell:	n/a	n/a
36	MXI1	chr7:121950412-121951166	H1-hESC	embryonic stem cell:	n/a	n/a
37	MXI1	chr7:121951890-121951894	H1-hESC	embryonic stem cell:	n/a	n/a
38	NANOG	chr7:121950620-121950932	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr7:121950612-121950937	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr7:121950613-121950895	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr7:121950652-121950838	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr7:121951929-121952578	SK-N-MC	brain:	n/a	n/a
43	POLR2A	chr7:121951460-121952465	H1-neurons	neurons:	n/a	n/a
44	POLR2A	chr7:121950205-121951238	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr7:121952587-121956328	SK-N-MC	brain:	n/a	n/a
46	POLR2A	chr7:121949597-121950660	H1-neurons	neurons:	n/a	n/a
47	POLR2A	chr7:121949496-121954156	SK-N-MC	brain:	n/a	n/a
48	POLR2A	chr7:121951787-121952245	H1-neurons	neurons:	n/a	n/a
49	POLR2A	chr7:121950731-121951868	SK-N-MC	brain:	n/a	n/a
50	RAD21	chr7:121950548-121951053	H1-hESC	embryonic stem cell:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:121950282-121950332	IMR90	lung:	fetal
2	chr7:121950282-121950332	IMR90	lung:	fetal
3	chr7:121950429-121950479	HMEC	breast:	n/a
4	chr7:121950924-121950974	NT2-D1	testis:	n/a
5	chr7:121951055-121951105	ProgFib	skin:	n/a
6	chr7:121950975-121951025	U87	brain:	n/a
7	chr7:121951055-121951105	PANC-1	pancreas:	n/a
8	chr7:121950198-121950248	Hela-S3	cervix:	n/a
9	chr7:121950282-121950332	A549	lung:	n/a
10	chr7:121951055-121951105	HIPEpiC	eye:	n/a
11	chr7:121950506-121950556	PFSK-1	brain:	n/a
12	chr7:121950924-121950974	Hepatocyte	liver:	n/a
13	chr7:121951055-121951105	IMR90	lung:	fetal
14	chr7:121950926-121950976	PANC-1	pancreas:	n/a
15	chr7:121950506-121950556	HCT-116	colon:	n/a
16	chr7:121950924-121950974	SAEC	small airway:	n/a
17	chr7:121950924-121950974	AG09309	skin:	n/a
18	chr7:121950429-121950479	NHBE	bronchial:	n/a
19	chr7:121950282-121950332	AG10803	skin:	n/a
20	chr7:121950282-121950332	HEEpiC	esophagus:	n/a
21	chr7:121950506-121950556	MCF10A-Er-Src	breast:	n/a
22	chr7:121950926-121950976	ECC-1	luminal epithelium:	n/a
23	chr7:121950926-121950976	Hepatocyte	liver:	n/a
24	chr7:121951055-121951105	Hepatocyte	liver:	n/a
25	chr7:121951055-121951105	GM06990	blood:	n/a
26	chr7:121951622-121951672	HUVEC	blood vessel:	n/a
27	chr7:121950282-121950332	LNCaP	prostate:	n/a
28	chr7:121951055-121951105	T-47D	breast:	n/a
29	chr7:121950924-121950974	HCF	heart:	n/a
30	chr7:121950282-121950332	BE2_C	brain:	n/a
31	chr7:121950924-121950974	HAEpiC	amniotic membrane:	n/a
32	chr7:121950198-121950248	H1-hESC	embryonic stem cell:	embryo
33	chr7:121950429-121950479	GM06990	blood:	n/a
34	chr7:121950926-121950976	IMR90	lung:	fetal
35	chr7:121950429-121950479	H1-hESC	embryonic stem cell:	embryo
36	chr7:121950198-121950248	HEK293	kidney:	embryo
37	chr7:121950282-121950332	SAEC	small airway:	n/a
38	chr7:121950198-121950248	HCF	heart:	n/a
39	chr7:121950975-121951025	SAEC	small airway:	n/a
40	chr7:121950924-121950974	SKMC	muscle:	n/a
41	chr7:121951055-121951105	GM19239	blood:	n/a
42	chr7:121950926-121950976	Caco-2	colon:	n/a
43	chr7:121950926-121950976	GM06990	blood:	n/a
44	chr7:121951055-121951105	SK-N-SH	brain:	n/a
45	chr7:121950429-121950479	SKMC	muscle:	n/a
46	chr7:121950429-121950479	GM12878	blood:	n/a
47	chr7:121950282-121950332	HL-60	blood:	n/a
48	chr7:121951622-121951672	GM12892	blood:	n/a
49	chr7:121951622-121951672	Jurkat	blood:	n/a
50	chr7:121950429-121950479	HCF	heart:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121944178..121945755-chr7:121949719..121951349,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPRZ1-2	chr7:121949638-121950131	NONHSAT123029

No data

Variant related genes	Relation type
FEZF1	TF binding region
FEZF1	CpG island
ENSG00000128610	chromatin interactions
ENSG00000230316	chromatin interactions

Extended variants
information (count: 121 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535472010	chr7:121950035-121950036	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs555483895	chr7:121950054-121950055	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs115266018	chr7:121950062-121950063	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs541149247	chr7:121950097-121950098	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs80320650	chr7:121950126-121950127	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs557949132	chr7:121950145-121950146	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs577775544	chr7:121950186-121950187	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs535370683	chr7:121950249-121950250	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs543349934	chr7:121950261-121950262	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs3958045	chr7:121950273-121950274	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs13230723	chr7:121950292-121950293	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs13230896	chr7:121950297-121950298	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs34084017	chr7:121950346-121950347	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs5887080	chr7:121950350-121950351	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs531593531	chr7:121950372-121950373	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs541849142	chr7:121950380-121950381	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs373920620	chr7:121950406-121950407	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs561771803	chr7:121950496-121950497	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs112884086	chr7:121950513-121950514	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs547497146	chr7:121950574-121950575	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs564478047	chr7:121950653-121950654	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs533619863	chr7:121950720-121950721	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs374119079	chr7:121950721-121950722	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs550196118	chr7:121950777-121950778	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs570358941	chr7:121950796-121950797	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs79891053	chr7:121950817-121950818	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs370577485	chr7:121950849-121950850	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs548970389	chr7:121950850-121950851	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs371182692	chr7:121950851-121950852	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs565695610	chr7:121950871-121950872	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs534663312	chr7:121950876-121950877	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs189372416	chr7:121950933-121950934	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs374040411	chr7:121950934-121950935	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs140729399	chr7:121950954-121950955	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs7779018	chr7:121950965-121950966	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs556953792	chr7:121950969-121950970	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs550900239	chr7:121950972-121950973	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs573852450	chr7:121950981-121950982	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs367871316	chr7:121951020-121951021	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs181826164	chr7:121951054-121951055	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs561708653	chr7:121951058-121951059	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs185363296	chr7:121951089-121951090	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs541126387	chr7:121951194-121951195	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs564642239	chr7:121951203-121951204	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs533344576	chr7:121951250-121951251	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs550375900	chr7:121951307-121951308	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs563751515	chr7:121951374-121951375	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs529577074	chr7:121951394-121951395	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs561240115	chr7:121951402-121951403	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs565632366	chr7:121951412-121951413	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121940000-121951000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:121946600-121951000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:121946800-121950200	Weak transcription	Gastric	stomach
4	chr7:121947400-121951200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:121947600-121950200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
6	chr7:121947600-121950200	Weak transcription	Right Ventricle	heart
7	chr7:121947800-121950200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
8	chr7:121947800-121950400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
9	chr7:121948800-121950200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
10	chr7:121948800-121950800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:121949000-121950200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:121949400-121950200	Active TSS	Right Atrium	heart
13	chr7:121949400-121952200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
14	chr7:121949600-121950200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
15	chr7:121949800-121950200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:121949800-121950200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:121949800-121950200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
18	chr7:121949800-121950200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:121949800-121950200	Bivalent Enhancer	Liver	Liver
20	chr7:121949800-121950200	Bivalent Enhancer	Fetal Heart	heart
21	chr7:121949800-121951200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:121950000-121950200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
23	chr7:121950000-121950200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:121950000-121950200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
25	chr7:121950000-121950200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:121950000-121950200	Bivalent Enhancer	Adipose Nuclei	Adipose
27	chr7:121950000-121950200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
28	chr7:121950000-121950200	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:121950000-121950200	Bivalent Enhancer	Brain Substantia Nigra	brain
30	chr7:121950000-121950200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr7:121950000-121950200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
32	chr7:121950000-121950200	Flanking Bivalent TSS/Enh	HepG2	liver
33	chr7:121950000-121950200	Bivalent Enhancer	NHLF	lung
34	chr7:121950000-121950400	Bivalent Enhancer	Fetal Lung	lung
35	chr7:121950000-121950400	Active TSS	Ovary	ovary
36	chr7:121950000-121950600	Bivalent/Poised TSS	Aorta	Aorta
37	chr7:121950000-121950600	Bivalent/Poised TSS	A549	lung
38	chr7:121950000-121950800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
39	chr7:121950000-121951000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:121950000-121951000	Bivalent/Poised TSS	HSMM	muscle
41	chr7:121950000-121951000	Flanking Bivalent TSS/Enh	NH-A	brain
42	chr7:121950000-121951000	Bivalent/Poised TSS	NHDF-Ad	bronchial
43	chr7:121950000-121951000	Bivalent/Poised TSS	Osteobl	bone
44	chr7:121950000-121952200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
45	chr7:121950000-121952200	Active TSS	H9 Cell Line	embryonic stem cell
46	chr7:121950000-121952200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chr7:121950000-121952400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:121950200-121950400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr7:121950200-121950400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
50	chr7:121950200-121950400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links