Variant report

Variant	nsv524807
Chromosome Location	chr7:19714156-19803925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1546)
CpG islands
(count:1039)
Chromatin interactive
region (count:61)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:1546 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:19748511-19749067	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:19787415-19787750	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:19753305-19753588	K562	blood:	n/a	n/a
4	ARID3A	chr7:19794186-19794468	HepG2	liver:	n/a	n/a
5	ARID3A	chr7:19748325-19749082	K562	blood:	n/a	n/a
6	ARID3A	chr7:19747093-19747165	HepG2	liver:	n/a	n/a
7	ATF1	chr7:19751674-19751874	K562	blood:	n/a	n/a
8	ATF1	chr7:19716842-19717171	K562	blood:	n/a	n/a
9	ATF1	chr7:19747985-19749187	K562	blood:	n/a	n/a
10	ATF1	chr7:19793540-19793627	K562	blood:	n/a	n/a
11	ATF1	chr7:19719172-19719431	K562	blood:	n/a	n/a
12	ATF1	chr7:19753424-19753649	K562	blood:	n/a	n/a
13	ATF2	chr7:19748547-19748944	GM12878	blood:	n/a	n/a
14	ATF2	chr7:19748385-19749009	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr7:19748359-19748945	GM12878	blood:	n/a	n/a
16	ATF3	chr7:19748530-19748806	HepG2	liver:	n/a	chr7:19748662-19748671 chr7:19748660-19748669 chr7:19748661-19748681
17	ATF3	chr7:19748438-19748927	H1-hESC	embryonic stem cell:	n/a	chr7:19748662-19748671 chr7:19748660-19748669 chr7:19748661-19748681
18	ATF3	chr7:19748488-19748926	A549	lung:	n/a	chr7:19748662-19748671 chr7:19748660-19748669 chr7:19748661-19748681
19	ATF3	chr7:19748393-19748903	A549	lung:	n/a	chr7:19748662-19748671 chr7:19748660-19748669 chr7:19748661-19748681
20	ATF3	chr7:19748517-19748788	GM12878	blood:	n/a	chr7:19748662-19748671 chr7:19748660-19748669 chr7:19748661-19748681
21	ATF3	chr7:19748359-19748808	HepG2	liver:	n/a	chr7:19748662-19748671 chr7:19748660-19748669 chr7:19748661-19748681
22	ATF3	chr7:19748437-19748948	GM12878	blood:	n/a	chr7:19748662-19748671 chr7:19748660-19748669 chr7:19748661-19748681
23	ATF3	chr7:19748391-19748848	H1-hESC	embryonic stem cell:	n/a	chr7:19748662-19748671 chr7:19748660-19748669 chr7:19748661-19748681
24	ATF3	chr7:19748466-19748880	K562	blood:	n/a	chr7:19748662-19748671 chr7:19748660-19748669 chr7:19748661-19748681
25	BACH1	chr7:19794174-19794306	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr7:19783908-19783957	K562	blood:	n/a	n/a
27	BACH1	chr7:19783924-19783946	H1-hESC	embryonic stem cell:	n/a	n/a
28	BATF	chr7:19791718-19791977	GM12878	blood:	n/a	n/a
29	BCL3	chr7:19748375-19748963	A549	lung:	n/a	chr7:19748739-19748748
30	BCL3	chr7:19748380-19749011	A549	lung:	n/a	chr7:19748739-19748748
31	BCL3	chr7:19748425-19748903	GM12878	blood:	n/a	chr7:19748739-19748748
32	BCLAF1	chr7:19748349-19749031	GM12878	blood:	n/a	chr7:19748739-19748748
33	BCLAF1	chr7:19748376-19749011	GM12878	blood:	n/a	chr7:19748739-19748748
34	BHLHE40	chr7:19748217-19748961	HepG2	liver:	n/a	n/a
35	BHLHE40	chr7:19748487-19748984	GM12878	blood:	n/a	n/a
36	BHLHE40	chr7:19748226-19748966	K562	blood:	n/a	n/a
37	BRCA1	chr7:19748472-19749008	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr7:19748282-19748898	HepG2	liver:	n/a	n/a
39	BRCA1	chr7:19748482-19748975	GM12878	blood:	n/a	n/a
40	BRCA1	chr7:19748501-19748970	H1-hESC	embryonic stem cell:	n/a	n/a
41	CBX3	chr7:19748381-19749313	K562	blood:	n/a	n/a
42	CBX3	chr7:19748507-19749049	K562	blood:	n/a	n/a
43	CBX3	chr7:19728821-19729161	K562	blood:	n/a	n/a
44	CBX3	chr7:19748178-19749117	HCT-116	colon:	n/a	n/a
45	CCNT2	chr7:19748400-19748858	K562	blood:	n/a	n/a
46	CEBPB	chr7:19757921-19758120	IMR90	lung:	n/a	chr7:19757998-19758009 chr7:19757998-19758011
47	CEBPB	chr7:19748489-19748875	IMR90	lung:	n/a	n/a
48	CEBPB	chr7:19748463-19749216	K562	blood:	n/a	n/a
49	CEBPB	chr7:19748494-19748886	A549	lung:	n/a	n/a
50	CEBPB	chr7:19748432-19748889	HepG2	liver:	n/a	n/a

(count:1039 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:19750896-19750946	MCF10A-Er-Src	breast:	n/a
2	chr7:19736014-19736064	NT2-D1	testis:	n/a
3	chr7:19750896-19750946	MCF10A-Er-Src	breast:	n/a
4	chr7:19736014-19736064	NT2-D1	testis:	n/a
5	chr7:19759345-19759395	MCF-7	breast:	n/a
6	chr7:19748466-19748516	AG04450	lung:	fetal
7	chr7:19736014-19736064	Hela-S3	cervix:	n/a
8	chr7:19745167-19745217	AG09309	skin:	n/a
9	chr7:19748860-19748910	GM19239	blood:	n/a
10	chr7:19748670-19748720	K562	blood:	n/a
11	chr7:19748791-19748841	SKMC	muscle:	n/a
12	chr7:19745167-19745217	GM12892	blood:	n/a
13	chr7:19748663-19748713	Jurkat	blood:	n/a
14	chr7:19750896-19750946	HNPCEpiC	eye:	n/a
15	chr7:19800822-19800872	HCPEpiC	choroid plexus:	n/a
16	chr7:19748466-19748516	PFSK-1	brain:	n/a
17	chr7:19748791-19748841	GM12892	blood:	n/a
18	chr7:19759345-19759395	BE2_C	brain:	n/a
19	chr7:19745167-19745217	HMEC	breast:	n/a
20	chr7:19759345-19759395	SKMC	muscle:	n/a
21	chr7:19748663-19748713	MCF10A-Er-Src	breast:	n/a
22	chr7:19748663-19748713	HPAEpiC	pulmonary alveolar:	n/a
23	chr7:19745167-19745217	SAEC	small airway:	n/a
24	chr7:19800822-19800872	RPTEC	kidney:	n/a
25	chr7:19750896-19750946	T-47D	breast:	n/a
26	chr7:19748676-19748726	HRCEpiC	kidney:	n/a
27	chr7:19748289-19748339	LNCaP	prostate:	n/a
28	chr7:19748860-19748910	H1-hESC	embryonic stem cell:	embryo
29	chr7:19748676-19748726	AG04450	lung:	fetal
30	chr7:19748676-19748726	ECC-1	luminal epithelium:	n/a
31	chr7:19748670-19748720	A549	lung:	n/a
32	chr7:19748676-19748726	HRPEpiC	eye:	n/a
33	chr7:19750896-19750946	ovcar-3	ovarian:	n/a
34	chr7:19748860-19748910	PrEC	prostate:	n/a
35	chr7:19800822-19800872	NT2-D1	testis:	n/a
36	chr7:19745167-19745217	HCF	heart:	n/a
37	chr7:19748828-19748878	AG09319	gingival:	n/a
38	chr7:19800822-19800872	HepG2	liver:	n/a
39	chr7:19749584-19749634	GM12892	blood:	n/a
40	chr7:19748466-19748516	HIPEpiC	eye:	n/a
41	chr7:19748676-19748726	HepG2	liver:	n/a
42	chr7:19748860-19748910	SK-N-SH_RA	brain:	n/a
43	chr7:19748860-19748910	ovcar-3	ovarian:	n/a
44	chr7:19748828-19748878	PANC-1	pancreas:	n/a
45	chr7:19748676-19748726	LNCaP	prostate:	n/a
46	chr7:19748791-19748841	HCF	heart:	n/a
47	chr7:19749584-19749634	HCM	heart:	n/a
48	chr7:19748791-19748841	K562	blood:	n/a
49	chr7:19750896-19750946	HIPEpiC	eye:	n/a
50	chr7:19748812-19748862	IMR90	lung:	fetal

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:19745589..19748453-chr7:19756261..19758585,2	K562	blood:
2	chr7:19787119..19788036-chr7:20212233..20212913,3	MCF-7	breast:
3	chr7:19731763..19733279-chr7:19737270..19738844,2	K562	blood:
4	chr7:19733161..19734687-chr7:19743842..19746576,2	K562	blood:
5	chr7:19727945..19730939-chr7:19734576..19737484,2	MCF-7	breast:
6	chr12:103665222..103666141-chr7:19784414..19785287,2	MCF-7	breast:
7	chr7:19733366..19735226-chr7:19735376..19737263,2	K562	blood:
8	chr3:103005495..103006360-chr7:19768607..19769370,2	MCF-7	breast:
9	chr7:19794246..19794831-chr7:20237112..20238095,2	MCF-7	breast:
10	chr7:19751944..19753996-chr7:19755724..19758618,2	K562	blood:
11	chr7:19740790..19742645-chr7:19746038..19748708,3	MCF-7	breast:
12	chr7:19744806..19746976-chr7:19764199..19766778,2	K562	blood:
13	chr7:19752993..19753942-chr7:20637906..20638730,2	K562	blood:
14	chr7:19727945..19730939-chr7:19734576..19737484,2	MCF-7	breast:
15	chr7:19748857..19751346-chr7:20255213..20257656,2	K562	blood:
16	chr7:19731763..19733279-chr7:19737270..19738844,2	K562	blood:
17	chr7:19737378..19739669-chr7:19751275..19753137,2	K562	blood:
18	chr7:19753307..19753925-chr7:20350842..20351776,2	MCF-7	breast:
19	chr7:19737378..19739669-chr7:19751275..19753137,2	K562	blood:
20	chr7:19733366..19735226-chr7:19735376..19737263,2	K562	blood:
21	chr7:19748380..19750241-chr7:20367987..20371074,3	MCF-7	breast:
22	chr7:19744052..19746655-chr7:19747190..19748728,2	MCF-7	breast:
23	chr7:19737218..19740997-chr7:19747742..19750274,4	K562	blood:
24	chr7:6745135..6746643-chr7:19746904..19748412,2	K562	blood:
25	chr7:19733726..19735499-chr7:19769003..19770586,2	K562	blood:
26	chr7:19748410..19749328-chr7:19795554..19796376,2	K562	blood:
27	chr7:19748303..19750459-chr7:19762352..19765154,2	K562	blood:
28	chr11:11093304..11094946-chr7:19742471..19744480,2	K562	blood:
29	chr7:19733161..19736088-chr7:19743842..19746226,2	K562	blood:
30	chr7:1498311..1499123-chr7:19747847..19748457,2	MCF-7	breast:
31	chr7:19747635..19750382-chr7:19765985..19768350,2	K562	blood:
32	chr7:19745703..19747865-chr7:20271912..20273693,2	K562	blood:
33	chr7:19733619..19736349-chr7:19737994..19740967,3	K562	blood:
34	chr7:19753290..19754082-chr7:20637859..20638360,2	MCF-7	breast:
35	chr1:53018395..53019315-chr7:19748309..19748892,2	NB4	blood:
36	chr7:19793970..19794853-chr7:20212073..20212962,4	MCF-7	breast:
37	chr7:19751944..19753996-chr7:19755724..19758618,2	K562	blood:
38	chr7:19744052..19746655-chr7:19747190..19748728,2	MCF-7	breast:
39	chr7:19746667..19748260-chr7:20349219..20351649,2	K562	blood:
40	chr7:19745703..19748379-chr7:20271088..20273693,2	K562	blood:
41	chr7:19743433..19745474-chr7:19746532..19749255,3	K562	blood:
42	chr7:19758123..19760740-chr7:19763269..19766162,2	K562	blood:
43	chr7:19803019..19803764-chr9:116917466..116918072,2	MCF-7	breast:
44	chr7:19787167..19788042-chr7:20351032..20351709,3	K562	blood:
45	chr7:19796038..19798811-chr7:19801202..19803145,2	K562	blood:
46	chr7:19731093..19733268-chr7:19747397..19749038,2	K562	blood:
47	chr7:19740820..19745529-chr7:19747045..19749777,5	MCF-7	breast:
48	chr7:19747017..19748692-chr7:20457391..20459961,2	MCF-7	breast:
49	chr7:19733726..19735499-chr7:19769003..19770586,2	K562	blood:
50	chr7:19745984..19749899-chr7:19759208..19763203,4	K562	blood:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3146	chr7:19744989-19745010	MIMAT0015018

No data

Variant related genes	Relation type
TWISTNB	TF binding region
ENSG00000221576	TF binding region
MIR3146	TF binding region
TWISTNB	CpG island
ENSG00000221576	CpG island
MIR3146	CpG island
ENSG00000196739	chromatin interactions
ENSG00000134744	chromatin interactions
ENSG00000105849	chromatin interactions
ENSG00000221576	chromatin interactions
ENSG00000164631	chromatin interactions
ENSG00000233834	chromatin interactions
ENSG00000105855	chromatin interactions
ENSG00000183742	chromatin interactions
ENSG00000271133	chromatin interactions
ENSG00000164877	chromatin interactions
ENSG00000265932	chromatin interactions

Extended variants
information (count: 2939 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2939 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs992934	chr7:19714156-19714157	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553398023	chr7:19714241-19714242	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs574738967	chr7:19714244-19714245	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs182428402	chr7:19714268-19714269	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs563698908	chr7:19714271-19714272	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs76099292	chr7:19714272-19714273	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs546368268	chr7:19714282-19714283	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs80004862	chr7:19714295-19714296	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs528286929	chr7:19714311-19714312	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs187797031	chr7:19714329-19714330	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs528617017	chr7:19714382-19714383	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs561856251	chr7:19714420-19714421	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529216211	chr7:19714444-19714445	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550145736	chr7:19714473-19714474	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138625740	chr7:19714481-19714482	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539142264	chr7:19714482-19714483	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141198351	chr7:19714484-19714485	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551851246	chr7:19714493-19714494	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7794561	chr7:19714522-19714523	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs150305890	chr7:19714531-19714532	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs137880853	chr7:19714543-19714544	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370602107	chr7:19714547-19714548	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560071603	chr7:19714564-19714565	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193040710	chr7:19714591-19714592	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149541783	chr7:19714627-19714628	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147209329	chr7:19714649-19714650	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546282266	chr7:19714676-19714677	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6461460	chr7:19714680-19714681	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs568816528	chr7:19714708-19714709	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78240238	chr7:19714742-19714743	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572965817	chr7:19714756-19714757	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540032940	chr7:19714766-19714767	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561954636	chr7:19714769-19714770	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529164945	chr7:19714770-19714771	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79373569	chr7:19714827-19714828	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs555165634	chr7:19714870-19714871	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs185740159	chr7:19714900-19714901	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs532774181	chr7:19714917-19714918	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs565492078	chr7:19714931-19714932	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs551530694	chr7:19714958-19714959	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs117152873	chr7:19715021-19715022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189822659	chr7:19715029-19715030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571620489	chr7:19715048-19715049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546861342	chr7:19715072-19715073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568685862	chr7:19715088-19715089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142841664	chr7:19715104-19715105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557699599	chr7:19715109-19715110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370709821	chr7:19715182-19715183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557559597	chr7:19715203-19715204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558211379	chr7:19715224-19715225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
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
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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	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
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1025 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19713800-19715200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:19714000-19714200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:19714000-19714400	Enhancers	Dnd41	blood
4	chr7:19714000-19714400	Enhancers	Osteobl	bone
5	chr7:19714000-19714800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:19714000-19714800	Enhancers	HSMM	muscle
7	chr7:19714000-19715000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:19714000-19718000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:19714200-19714400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:19714200-19714800	Enhancers	NHEK	skin
11	chr7:19714400-19714600	Enhancers	Primary hematopoietic stem cells	blood
12	chr7:19714400-19714600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr7:19714400-19714800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:19714400-19714800	Flanking Active TSS	Osteobl	bone
15	chr7:19714400-19715800	Weak transcription	Dnd41	blood
16	chr7:19714600-19715800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:19714600-19715800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:19714800-19715000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:19714800-19715000	Enhancers	Osteobl	bone
20	chr7:19715200-19715600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:19715600-19718200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:19715800-19718000	Enhancers	Primary hematopoietic stem cells	blood
23	chr7:19715800-19718000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr7:19715800-19718000	Enhancers	Dnd41	blood
25	chr7:19716800-19717000	Active TSS	K562	blood
26	chr7:19716800-19717200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr7:19716800-19717400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:19717000-19717200	Flanking Active TSS	K562	blood
29	chr7:19717000-19717400	Enhancers	Primary B cells from peripheral blood	blood
30	chr7:19717000-19717400	Enhancers	Fetal Thymus	thymus
31	chr7:19717200-19717400	Enhancers	K562	blood
32	chr7:19717400-19720000	Weak transcription	K562	blood
33	chr7:19718000-19719400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:19718000-19720000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr7:19718200-19719200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:19719200-19720800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:19719400-19719600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:19720000-19720600	Enhancers	K562	blood
39	chr7:19728400-19728800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr7:19728800-19729000	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr7:19728800-19729000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr7:19728800-19729000	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr7:19728800-19729200	Active TSS	H9 Cell Line	embryonic stem cell
44	chr7:19728800-19729200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr7:19728800-19731400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:19729000-19729200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr7:19729000-19729200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr7:19729000-19729200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr7:19729000-19729400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr7:19729000-19729800	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links