Variant report

Variant	nsv888775
Chromosome Location	chr7:99940307-99961194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1391)
CpG islands
(count:305)
Chromatin interactive
region (count:42)
LncRNA
region (count:9)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:1391 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:99942479-99942739	K562	blood:	n/a	n/a
2	ATF1	chr7:99942460-99942769	K562	blood:	n/a	n/a
3	ATF2	chr7:99942273-99942839	GM12878	blood:	n/a	n/a
4	ATF2	chr7:99942368-99942771	GM12878	blood:	n/a	n/a
5	ATF2	chr7:99951201-99951635	GM12878	blood:	n/a	n/a
6	ATF3	chr7:99942337-99942735	K562	blood:	n/a	n/a
7	ATF3	chr7:99942464-99942678	GM12878	blood:	n/a	n/a
8	ATF3	chr7:99942209-99942369	K562	blood:	n/a	n/a
9	ATF3	chr7:99942478-99942769	GM12878	blood:	n/a	n/a
10	ATF3	chr7:99942419-99942692	K562	blood:	n/a	n/a
11	BACH1	chr7:99946781-99946896	K562	blood:	n/a	n/a
12	BATF	chr7:99942435-99942967	GM12878	blood:	n/a	n/a
13	BATF	chr7:99942414-99943143	GM12878	blood:	n/a	n/a
14	BATF	chr7:99942012-99942396	GM12878	blood:	n/a	n/a
15	BATF	chr7:99956227-99956510	GM12878	blood:	n/a	n/a
16	BCL11A	chr7:99942058-99942399	GM12878	blood:	n/a	n/a
17	BCL11A	chr7:99942034-99943146	GM12878	blood:	n/a	n/a
18	BCL11A	chr7:99956180-99956521	GM12878	blood:	n/a	n/a
19	BCL11A	chr7:99956300-99956507	GM12878	blood:	n/a	n/a
20	BCL11A	chr7:99942681-99943142	GM12878	blood:	n/a	n/a
21	BCL3	chr7:99942416-99942772	GM12878	blood:	n/a	n/a
22	BCLAF1	chr7:99942408-99942801	GM12878	blood:	n/a	n/a
23	BHLHE40	chr7:99942553-99942749	A549	lung:	n/a	n/a
24	BHLHE40	chr7:99942363-99942863	GM12878	blood:	n/a	n/a
25	BHLHE40	chr7:99942384-99942805	K562	blood:	n/a	n/a
26	BHLHE40	chr7:99951366-99951622	GM12878	blood:	n/a	n/a
27	BHLHE40	chr7:99942508-99942716	HepG2	liver:	n/a	n/a
28	BHLHE40	chr7:99956248-99956448	GM12878	blood:	n/a	n/a
29	CBX3	chr7:99941953-99943236	K562	blood:	n/a	n/a
30	CBX3	chr7:99942049-99942419	K562	blood:	n/a	n/a
31	CCNT2	chr7:99947619-99947638	K562	blood:	n/a	n/a
32	CEBPB	chr7:99942510-99942782	GM12878	blood:	n/a	n/a
33	CEBPB	chr7:99960837-99960867	K562	blood:	n/a	n/a
34	CEBPB	chr7:99941983-99943272	GM12878	blood:	n/a	n/a
35	CEBPB	chr7:99957894-99958017	HepG2	liver:	n/a	chr7:99957972-99957983 chr7:99957945-99957956
36	CEBPB	chr7:99957906-99958059	A549	lung:	n/a	chr7:99957972-99957983 chr7:99957945-99957956
37	CEBPB	chr7:99942015-99942810	K562	blood:	n/a	n/a
38	CEBPD	chr7:99941995-99942812	K562	blood:	n/a	n/a
39	CHD1	chr7:99942515-99942622	GM12878	blood:	n/a	n/a
40	CHD2	chr7:99950992-99951013	K562	blood:	n/a	n/a
41	CHD2	chr7:99951476-99951477	K562	blood:	n/a	n/a
42	CHD2	chr7:99942497-99942722	Hela-S3	cervix:	n/a	n/a
43	CHD2	chr7:99942428-99942759	GM12878	blood:	n/a	n/a
44	CHD2	chr7:99951349-99951379	GM12878	blood:	n/a	n/a
45	CREB1	chr7:99942471-99942790	GM12878	blood:	n/a	n/a
46	CTCF	chr7:99941920-99942070	HVMF	connective:	n/a	n/a
47	CTCF	chr7:99956205-99956366	GM13976	blood:	n/a	n/a
48	CTCF	chr7:99956160-99956310	AG09309	skin:	n/a	n/a
49	CTCF	chr7:99941900-99942050	GM06990	blood:	n/a	n/a
50	CTCF	chr7:99943020-99943170	NHLF	lung:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:99956107-99956157	HEEpiC	esophagus:	n/a
2	chr7:99955675-99955725	NHBE	bronchial:	n/a
3	chr7:99955675-99955725	NT2-D1	testis:	n/a
4	chr7:99954284-99954334	ovcar-3	ovarian:	n/a
5	chr7:99954188-99954238	NT2-D1	testis:	n/a
6	chr7:99954188-99954238	SAEC	small airway:	n/a
7	chr7:99956107-99956157	Caco-2	colon:	n/a
8	chr7:99954188-99954238	BJ	skin:	n/a
9	chr7:99954284-99954334	AoSMC	blood vessel:	n/a
10	chr7:99954400-99954450	Hepatocyte	liver:	n/a
11	chr7:99954400-99954450	NT2-D1	testis:	n/a
12	chr7:99954400-99954450	GM12891	blood:	n/a
13	chr7:99956107-99956157	GM19239	blood:	n/a
14	chr7:99955675-99955725	HRCEpiC	kidney:	n/a
15	chr7:99954400-99954450	MCF10A-Er-Src	breast:	n/a
16	chr7:99955675-99955725	Caco-2	colon:	n/a
17	chr7:99954284-99954334	GM12878	blood:	n/a
18	chr7:99955675-99955725	GM12891	blood:	n/a
19	chr7:99956107-99956157	IMR90	lung:	fetal
20	chr7:99954188-99954238	GM06990	blood:	n/a
21	chr7:99954284-99954334	NB4	blood:	n/a
22	chr7:99956107-99956157	ovcar-3	ovarian:	n/a
23	chr7:99954400-99954450	K562	blood:	n/a
24	chr7:99954188-99954238	Caco-2	colon:	n/a
25	chr7:99956107-99956157	H1-hESC	embryonic stem cell:	embryo
26	chr7:99955675-99955725	HIPEpiC	eye:	n/a
27	chr7:99956107-99956157	MCF10A-Er-Src	breast:	n/a
28	chr7:99954400-99954450	AoSMC	blood vessel:	n/a
29	chr7:99954284-99954334	HCF	heart:	n/a
30	chr7:99955675-99955725	CMK	blood:	n/a
31	chr7:99955675-99955725	SK-N-SH_RA	brain:	n/a
32	chr7:99954188-99954238	BE2_C	brain:	n/a
33	chr7:99955675-99955725	RPTEC	kidney:	n/a
34	chr7:99954188-99954238	ECC-1	luminal epithelium:	n/a
35	chr7:99955675-99955725	HL-60	blood:	n/a
36	chr7:99955675-99955725	Hepatocyte	liver:	n/a
37	chr7:99955675-99955725	GM12892	blood:	n/a
38	chr7:99954400-99954450	AG10803	skin:	n/a
39	chr7:99954188-99954238	AG04450	lung:	fetal
40	chr7:99954400-99954450	BJ	skin:	n/a
41	chr7:99956107-99956157	GM12892	blood:	n/a
42	chr7:99954188-99954238	PFSK-1	brain:	n/a
43	chr7:99954400-99954450	AG09319	gingival:	n/a
44	chr7:99955675-99955725	NB4	blood:	n/a
45	chr7:99954284-99954334	HepG2	liver:	n/a
46	chr7:99954188-99954238	T-47D	breast:	n/a
47	chr7:99954188-99954238	K562	blood:	n/a
48	chr7:99955675-99955725	HCF	heart:	n/a
49	chr7:99955675-99955725	H1-hESC	embryonic stem cell:	embryo
50	chr7:99954188-99954238	GM12878	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:99954086..99956374-chr7:100025281..100027347,2	MCF-7	breast:
2	chr7:99939167..99940736-chr7:100025324..100028004,2	K562	blood:
3	chr7:99687225..99689222-chr7:99941208..99944059,2	K562	blood:
4	chr7:99959399..99961103-chr7:100026312..100027902,2	K562	blood:
5	chr7:99955962..99956763-chr7:100004904..100005531,2	MCF-7	breast:
6	chr7:99931911..99935442-chr7:99938364..99941933,5	MCF-7	breast:
7	chr7:99958168..99959923-chr7:100024944..100026496,2	MCF-7	breast:
8	chr7:99944424..99947012-chr7:99956430..99960852,3	K562	blood:
9	chr7:99947085..99950138-chr7:99951110..99954083,3	MCF-7	breast:
10	chr7:99935191..99937909-chr7:99939169..99942843,3	K562	blood:
11	chr7:99956811..99958852-chr7:99961278..99963272,2	MCF-7	breast:
12	chr7:99961125..99963572-chr7:99991510..99993149,2	K562	blood:
13	chr7:99947085..99950138-chr7:99951110..99954083,3	MCF-7	breast:
14	chr7:99956089..99957911-chr7:100026072..100027787,2	K562	blood:
15	chr7:99687321..99689541-chr7:99945764..99947709,2	K562	blood:
16	chr7:99942706..99944799-chr7:99946310..99948401,2	MCF-7	breast:
17	chr7:99942279..99946162-chr7:100025896..100028763,3	K562	blood:
18	chr7:99944662..99948099-chr7:100026325..100029465,3	K562	blood:
19	chr7:99955250..99958076-chr7:99963058..99965429,2	K562	blood:
20	chr7:99932234..99937909-chr7:99939373..99942446,6	K562	blood:
21	chr7:99945120..99946950-chr7:99959352..99960868,2	K562	blood:
22	chr7:99947002..99949719-chr7:99957525..99959319,2	MCF-7	breast:
23	chr7:99952374..99954979-chr7:99956728..99958286,2	MCF-7	breast:
24	chr7:99944424..99947012-chr7:99956430..99960852,3	K562	blood:
25	chr7:99943342..99945530-chr7:99954534..99957362,2	K562	blood:
26	chr7:99949776..99952306-chr7:99953744..99955368,3	K562	blood:
27	chr7:99953591..99956597-chr7:99962899..99966077,3	MCF-7	breast:
28	chr7:99955988..99956495-chr7:99971050..99971685,2	MCF-7	breast:
29	chr7:99697181..99698969-chr7:99947423..99949421,2	K562	blood:
30	chr7:99958632..99960421-chr7:100025075..100027973,2	K562	blood:
31	chr7:99942706..99944799-chr7:99946310..99948401,2	MCF-7	breast:
32	chr7:99943654..99945784-chr7:99961276..99963907,2	K562	blood:
33	chr7:99942281..99944536-chr7:100038040..100040733,2	K562	blood:
34	chr7:99949776..99952306-chr7:99953744..99955368,3	K562	blood:
35	chr7:99941834..99943595-chr7:99990991..99992805,2	K562	blood:
36	chr7:99945120..99946950-chr7:99959352..99960868,2	K562	blood:
37	chr7:99949872..99952951-chr7:100026343..100028648,3	K562	blood:
38	chr7:99942126..99946670-chr7:99946770..99950661,7	K562	blood:
39	chr7:99815070..99817106-chr7:99943505..99945105,2	MCF-7	breast:
40	chr7:99946355..99948169-chr7:99950950..99953351,3	K562	blood:
41	chr7:99941805..99944661-chr7:100026023..100029271,5	K562	blood:
42	chr7:99851711..99854330-chr7:99942995..99944936,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PILRB-1	chr7:99943488-99943591	NONHSAT122362
2	lnc-PILRB-1	chr7:99948879-99949033	ENSG00000272752.1
3	lnc-PILRB-1	chr7:99951543-99951635	ENSG00000272752.1
4	lnc-PILRB-1	chr7:99955843-99955915	ENSG00000272752.1
5	lnc-PILRB-1	chr7:99947340-99947781	NONHSAT122362
6	lnc-PILRB-1	chr7:99952766-99952863	ENSG00000272752.1
7	lnc-PILRB-1	chr7:99954373-99954506	ENSG00000272752.1
8	lnc-PILRB-1	chr7:99947422-99947510	NONHSAT122358
9	lnc-PILRB-1	chr7:99948875-99949033	NONHSAT122358

miRNA name	Chromosome Location	mirBase accession
hsa-miR-6840-3p	chr7:99954319-99954340	MIMAT0027583
hsa-miR-6840-5p	chr7:99954279-99954302	MIMAT0027582

No data

Variant related genes	Relation type
PMS2P1	TF binding region
PILRB	TF binding region
STAG3L5P-PVRIG2P-PILRB	TF binding region
PVRIG2P	TF binding region
PILRA	TF binding region
PMS2P1	CpG island
PILRB	CpG island
STAG3L5P-PVRIG2P-PILRB	CpG island
PVRIG2P	CpG island
PILRA	CpG island
ENSG00000272752	chromatin interactions
ENSG00000235333	chromatin interactions
ENSG00000121716	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000085514	chromatin interactions
ENSG00000213413	chromatin interactions
ENSG00000168090	chromatin interactions
ENSG00000166508	chromatin interactions
ENSG00000242294	chromatin interactions

Extended variants
information (count: 933 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:933 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13228694	chr7:99940307-99940308	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
2	rs189678442	chr7:99940371-99940372	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs372071619	chr7:99940384-99940385	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs564046267	chr7:99940389-99940390	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs528138992	chr7:99940413-99940414	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs546827047	chr7:99940415-99940416	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs182340142	chr7:99940427-99940428	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs375291675	chr7:99940470-99940471	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs550981859	chr7:99940500-99940501	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs3958474	chr7:99940542-99940543	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs549432733	chr7:99940557-99940558	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs3958473	chr7:99940558-99940559	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs569493851	chr7:99940566-99940567	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs6979910	chr7:99940630-99940631	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs551725509	chr7:99940634-99940635	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs567003638	chr7:99940636-99940637	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs534263594	chr7:99940655-99940656	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs28439159	chr7:99940657-99940658	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs574675190	chr7:99940665-99940666	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs534610903	chr7:99940731-99940732	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs535593054	chr7:99940761-99940762	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs188150997	chr7:99940764-99940765	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs556873942	chr7:99940771-99940772	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs143516354	chr7:99940783-99940784	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs192759849	chr7:99940818-99940819	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs575300708	chr7:99940829-99940830	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs533528810	chr7:99940835-99940836	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs564095380	chr7:99940845-99940846	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs146753772	chr7:99940865-99940866	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs539940210	chr7:99940933-99940934	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs538153027	chr7:99940949-99940950	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs561988174	chr7:99940955-99940956	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs529455653	chr7:99940973-99940974	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs185219195	chr7:99940974-99940975	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs188568019	chr7:99941005-99941006	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs372887186	chr7:99941008-99941009	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs35209832	chr7:99941082-99941083	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs563062592	chr7:99941095-99941096	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs858640	chr7:99941149-99941150	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs533643469	chr7:99941172-99941173	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs551511110	chr7:99941174-99941175	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs545538953	chr7:99941181-99941182	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs858641	chr7:99941215-99941216	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs557803889	chr7:99941265-99941266	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs527827546	chr7:99941278-99941279	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs549508754	chr7:99941318-99941319	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs76232357	chr7:99941334-99941335	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs567713141	chr7:99941355-99941356	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs372663583	chr7:99941425-99941426	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs557156098	chr7:99941434-99941435	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:900 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99934000-99977600	Weak transcription	Fetal Brain Male	brain
2	chr7:99934200-99940400	Weak transcription	Brain Anterior Caudate	brain
3	chr7:99934200-99941600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr7:99934200-99941600	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:99934200-99941800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:99934200-99941800	Weak transcription	Gastric	stomach
7	chr7:99934200-99942200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:99934200-99942400	Weak transcription	Fetal Lung	lung
9	chr7:99934200-99943600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:99934200-99943600	Weak transcription	HSMMtube	muscle
11	chr7:99934200-99944000	Weak transcription	Fetal Kidney	kidney
12	chr7:99934200-99950800	Weak transcription	Small Intestine	intestine
13	chr7:99934400-99940400	Weak transcription	Osteobl	bone
14	chr7:99934400-99941800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:99934400-99941800	Weak transcription	Pancreas	Pancrea
16	chr7:99934400-99942400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:99934400-99943800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:99934400-99944000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:99934400-99944200	Weak transcription	Colonic Mucosa	Colon
20	chr7:99934400-99944200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:99934400-99944200	Weak transcription	Ovary	ovary
22	chr7:99934400-99963400	Weak transcription	Psoas Muscle	Psoas
23	chr7:99934800-99940400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:99934800-99941800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:99934800-99944800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:99934800-99963800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:99935200-99940800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:99935200-99941400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:99935400-99940400	Weak transcription	HSMM	muscle
30	chr7:99935400-99941800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr7:99935400-99941800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr7:99935400-99942200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:99935400-99942400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:99935400-99942400	Strong transcription	Fetal Intestine Small	intestine
35	chr7:99935400-99942400	Weak transcription	NHLF	lung
36	chr7:99935400-99944000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr7:99935400-99944200	Weak transcription	Brain Germinal Matrix	brain
38	chr7:99935400-99962200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:99935400-99962400	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:99935600-99940800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:99935600-99940800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:99935600-99942200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:99935800-99940800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:99935800-99941000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr7:99935800-99941800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr7:99936000-99941400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr7:99936000-99941800	Weak transcription	Brain Substantia Nigra	brain
48	chr7:99936200-99940800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr7:99936600-99942400	Weak transcription	NHDF-Ad	bronchial
50	chr7:99937000-99941800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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