Variant report

Variant	nsv904187
Chromosome Location	chr15:45438537-45507738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3716)
CpG islands
(count:3242)
Chromatin interactive
region (count:173)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3716 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:45490431-45491381	K562	blood:	n/a	n/a
2	ARID3A	chr15:45461405-45461740	K562	blood:	n/a	n/a
3	ARID3A	chr15:45492224-45493921	K562	blood:	n/a	n/a
4	ARID3A	chr15:45459297-45459300	K562	blood:	n/a	n/a
5	ARID3A	chr15:45490398-45491429	HepG2	liver:	n/a	n/a
6	ARID3A	chr15:45492302-45493782	HepG2	liver:	n/a	n/a
7	ARID3A	chr15:45459687-45459941	K562	blood:	n/a	n/a
8	ARID3A	chr15:45459757-45459773	HepG2	liver:	n/a	n/a
9	ATF1	chr15:45492250-45493674	K562	blood:	n/a	n/a
10	ATF1	chr15:45455746-45455775	K562	blood:	n/a	n/a
11	ATF1	chr15:45450234-45450549	K562	blood:	n/a	n/a
12	ATF1	chr15:45449331-45449609	K562	blood:	n/a	n/a
13	ATF1	chr15:45490564-45491354	K562	blood:	n/a	n/a
14	ATF2	chr15:45480522-45481055	GM12878	blood:	n/a	n/a
15	ATF2	chr15:45490517-45491137	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr15:45490435-45491152	GM12878	blood:	n/a	n/a
17	ATF2	chr15:45492448-45492885	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr15:45490645-45491402	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr15:45492476-45492928	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr15:45492283-45493559	GM12878	blood:	n/a	n/a
21	ATF2	chr15:45480577-45481067	GM12878	blood:	n/a	n/a
22	ATF2	chr15:45455191-45455598	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr15:45490453-45491410	GM12878	blood:	n/a	n/a
24	ATF2	chr15:45450203-45450634	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF2	chr15:45492093-45493483	GM12878	blood:	n/a	n/a
26	ATF2	chr15:45493038-45493556	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF3	chr15:45492164-45493894	A549	lung:	n/a	chr15:45492739-45492748
28	ATF3	chr15:45459029-45459297	K562	blood:	n/a	chr15:45459163-45459172
29	ATF3	chr15:45492182-45493825	HCT-116	colon:	n/a	chr15:45492739-45492748
30	ATF3	chr15:45490487-45491501	HCT-116	colon:	n/a	n/a
31	ATF3	chr15:45490355-45491389	A549	lung:	n/a	n/a
32	ATF3	chr15:45492171-45493834	HCT-116	colon:	n/a	chr15:45492739-45492748
33	ATF3	chr15:45490404-45491129	A549	lung:	n/a	n/a
34	ATF3	chr15:45492178-45493774	A549	lung:	n/a	chr15:45492739-45492748
35	ATF3	chr15:45490443-45491427	K562	blood:	n/a	n/a
36	ATF3	chr15:45490518-45491442	HCT-116	colon:	n/a	n/a
37	ATF3	chr15:45492155-45493807	K562	blood:	n/a	chr15:45492739-45492748
38	ATF3	chr15:45455123-45455624	H1-hESC	embryonic stem cell:	n/a	n/a
39	BACH1	chr15:45461468-45461661	K562	blood:	n/a	n/a
40	BACH1	chr15:45492332-45492894	K562	blood:	n/a	n/a
41	BACH1	chr15:45474989-45475559	K562	blood:	n/a	n/a
42	BACH1	chr15:45497056-45497102	H1-hESC	embryonic stem cell:	n/a	n/a
43	BACH1	chr15:45475206-45475637	H1-hESC	embryonic stem cell:	n/a	n/a
44	BACH1	chr15:45459461-45459883	H1-hESC	embryonic stem cell:	n/a	n/a
45	BACH1	chr15:45455222-45455621	H1-hESC	embryonic stem cell:	n/a	n/a
46	BACH1	chr15:45492395-45493433	H1-hESC	embryonic stem cell:	n/a	n/a
47	BACH1	chr15:45480450-45480957	H1-hESC	embryonic stem cell:	n/a	n/a
48	BATF	chr15:45493225-45493564	GM12878	blood:	n/a	n/a
49	BATF	chr15:45490608-45491049	GM12878	blood:	n/a	n/a
50	BATF	chr15:45480673-45480964	GM12878	blood:	n/a	n/a

(count:3242 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:45507695-45507745	IMR90	lung:	fetal
2	chr15:45492494-45492544	ECC-1	luminal epithelium:	n/a
3	chr15:45444627-45444677	LNCaP	prostate:	n/a
4	chr15:45457620-45457670	ProgFib	skin:	n/a
5	chr15:45493530-45493580	RPTEC	kidney:	n/a
6	chr15:45456024-45456074	Jurkat	blood:	n/a
7	chr15:45493530-45493580	Hela-S3	cervix:	n/a
8	chr15:45493438-45493488	GM06990	blood:	n/a
9	chr15:45494708-45494758	U87	brain:	n/a
10	chr15:45507695-45507745	IMR90	lung:	fetal
11	chr15:45492494-45492544	ECC-1	luminal epithelium:	n/a
12	chr15:45444627-45444677	LNCaP	prostate:	n/a
13	chr15:45457620-45457670	ProgFib	skin:	n/a
14	chr15:45493530-45493580	RPTEC	kidney:	n/a
15	chr15:45456024-45456074	Jurkat	blood:	n/a
16	chr15:45493530-45493580	Hela-S3	cervix:	n/a
17	chr15:45493438-45493488	GM06990	blood:	n/a
18	chr15:45494708-45494758	U87	brain:	n/a
19	chr15:45507695-45507745	AG09309	skin:	n/a
20	chr15:45444219-45444269	HCPEpiC	choroid plexus:	n/a
21	chr15:45480185-45480235	SAEC	small airway:	n/a
22	chr15:45476975-45477025	Jurkat	blood:	n/a
23	chr15:45480185-45480235	PrEC	prostate:	n/a
24	chr15:45492442-45492492	Jurkat	blood:	n/a
25	chr15:45476975-45477025	CMK	blood:	n/a
26	chr15:45461636-45461686	LNCaP	prostate:	n/a
27	chr15:45459467-45459517	HRPEpiC	eye:	n/a
28	chr15:45492927-45492977	PANC-1	pancreas:	n/a
29	chr15:45457620-45457670	GM12891	blood:	n/a
30	chr15:45475008-45475058	SK-N-MC	brain:	n/a
31	chr15:45444219-45444269	AG04449	skin:	fetal
32	chr15:45491101-45491151	Hepatocyte	liver:	n/a
33	chr15:45461444-45461494	GM12892	blood:	n/a
34	chr15:45494784-45494834	NH-A	brain:	n/a
35	chr15:45493530-45493580	GM12891	blood:	n/a
36	chr15:45458818-45458868	AG10803	skin:	n/a
37	chr15:45493207-45493257	SAEC	small airway:	n/a
38	chr15:45458906-45458956	SKMC	muscle:	n/a
39	chr15:45494784-45494834	CMK	blood:	n/a
40	chr15:45480917-45480967	BJ	skin:	n/a
41	chr15:45480917-45480967	HCT-116	colon:	n/a
42	chr15:45493327-45493377	BJ	skin:	n/a
43	chr15:45492494-45492544	HRPEpiC	eye:	n/a
44	chr15:45493327-45493377	HL-60	blood:	n/a
45	chr15:45456024-45456074	HRE	kidney:	n/a
46	chr15:45480788-45480838	AoSMC	blood vessel:	n/a
47	chr15:45494784-45494834	HEEpiC	esophagus:	n/a
48	chr15:45493207-45493257	Hela-S3	cervix:	n/a
49	chr15:45461444-45461494	HMEC	breast:	n/a
50	chr15:45487475-45487525	PANC-1	pancreas:	n/a

(count:173 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr15:45458782..45460452-chr15:45469150..45471146,2	MCF-7	breast:
2	chr15:45489573..45492565-chr15:45693942..45696435,3	MCF-7	breast:
3	chr15:45449920..45453086-chr15:45456416..45459415,4	K562	blood:
4	chr15:45457925..45460364-chr15:45492288..45495049,4	MCF-7	breast:
5	chr15:45435866..45441707-chr15:45442117..45446619,7	K562	blood:
6	chr11:62608445..62609565-chr15:45458977..45459729,4	Hela-S3	cervix:
7	chr15:45474491..45476700-chr15:45492364..45494168,2	K562	blood:
8	chr15:45457610..45461525-chr15:45477333..45480560,5	MCF-7	breast:
9	chr15:45417539..45419456-chr15:45453596..45456552,2	K562	blood:
10	chr15:45457588..45459238-chr15:45747257..45749159,2	K562	blood:
11	chr15:45457275..45460718-chr15:45477484..45481344,4	K562	blood:
12	chr15:45454280..45456253-chr15:45491439..45493847,2	K562	blood:
13	chr15:45491292..45493253-chr15:45693461..45696308,4	K562	blood:
14	chr15:45449920..45453086-chr15:45456416..45459415,4	K562	blood:
15	chr15:45458782..45460452-chr15:45469150..45471146,2	MCF-7	breast:
16	chr1:226250333..226250903-chr15:45490663..45491581,2	Hela-S3	cervix:
17	chr15:45471040..45471975-chr15:45749448..45750391,3	K562	blood:
18	chr15:45458776..45462841-chr15:45467209..45473486,10	K562	blood:
19	chr15:45490447..45491260-chr17:41444880..41445454,2	Hela-S3	cervix:
20	chr15:45454342..45456403-chr15:45741288..45744175,2	MCF-7	breast:
21	chr15:45457736..45460170-chr15:45478587..45480947,2	MCF-7	breast:
22	chr15:45453204..45457090-chr15:45457382..45460922,8	K562	blood:
23	chr15:45496656..45498769-chr15:45514443..45516075,2	K562	blood:
24	chr1:151254368..151255147-chr15:45459225..45460088,2	Hela-S3	cervix:
25	chr15:45444538..45447388-chr15:45455721..45457816,3	K562	blood:
26	chr15:45419682..45422492-chr15:45439633..45442095,2	K562	blood:
27	chr15:45458183..45460477-chr15:45504288..45505965,2	K562	blood:
28	chr15:45492950..45494986-chr15:45503176..45505025,2	MCF-7	breast:
29	chr15:45457999..45463256-chr15:45488727..45493013,8	K562	blood:
30	chr15:45477456..45480320-chr15:45491100..45493481,2	MCF-7	breast:
31	chr15:45439255..45441307-chr15:45447015..45449775,2	K562	blood:
32	chr15:45499576..45501512-chr15:45693488..45695611,2	K562	blood:
33	chr15:45493157..45493834-chr17:39844710..39845449,2	Hela-S3	cervix:
34	chr15:45458109..45460047-chr15:45475007..45477207,2	MCF-7	breast:
35	chr15:45465443..45468186-chr15:45479581..45482219,2	MCF-7	breast:
36	chr15:45490733..45493253-chr15:45692978..45696308,3	K562	blood:
37	chr15:45474753..45476915-chr15:45477928..45479578,2	MCF-7	breast:
38	chr15:45464999..45466823-chr15:45492725..45494339,3	K562	blood:
39	chr15:45478413..45480068-chr15:45482676..45485087,2	K562	blood:
40	chr12:49245617..49246517-chr15:45459356..45460000,2	Hela-S3	cervix:
41	chr15:45478077..45482452-chr15:45491020..45494377,5	MCF-7	breast:
42	chr15:45471459..45472025-chr15:45490883..45491405,2	MCF-7	breast:
43	chr15:45481165..45484027-chr15:45488390..45490198,2	K562	blood:
44	chr15:45491035..45492770-chr15:45505625..45508217,2	K562	blood:
45	chr15:45477456..45480320-chr15:45491100..45493481,2	MCF-7	breast:
46	chr15:45443966..45446125-chr15:45449579..45451751,2	K562	blood:
47	chr15:45457346..45461990-chr15:45488766..45494297,11	MCF-7	breast:
48	chr15:45497097..45498045-chr15:45559451..45560983,6	MCF-7	breast:
49	chr15:45494024..45495941-chr15:45555811..45558017,2	MCF-7	breast:
50	chr15:45458146..45462463-chr15:45465556..45468797,6	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SHF-1	chr15:45506646-45507242	ENSG00000261709.1
2	lnc-DUOX1-1	chr15:45462542-45462732	ENSG00000259519.1
3	lnc-DUOX1-1	chr15:45492056-45492156	ENSG00000259519.1
4	lnc-DUOXA1-2	chr15:45492523-45492830	ENSG00000260035.1
5	lnc-SHF-2	chr15:45459684-45459724	ENSG00000259539.1
6	lnc-DUOXA1-1	chr15:45490715-45491337	ENSG00000259932.1
7	lnc-SHF-2	chr15:45444862-45445415	ENSG00000259539.1

No data

Variant related genes	Relation type
ENSG00000259932	TF binding region
ENSG00000259539	TF binding region
SHF	TF binding region
ENSG00000260035	TF binding region
ENSG00000259338	TF binding region
ENSG00000261709	TF binding region
DUOX1	TF binding region
ENSG00000259519	TF binding region
ENSG00000259932	CpG island
ENSG00000259539	CpG island
SHF	CpG island
ENSG00000260035	CpG island
ENSG00000259338	CpG island
ENSG00000261709	CpG island
DUOX1	CpG island
ENSG00000259519	CpG island
ENSG00000173812	chromatin interactions
ENSG00000104164	chromatin interactions
ENSG00000259354	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000259520	chromatin interactions
ENSG00000138606	chromatin interactions
ENSG00000171766	chromatin interactions
ENSG00000260170	chromatin interactions
ENSG00000259932	chromatin interactions
ENSG00000232671	chromatin interactions
ENSG00000163041	chromatin interactions
ENSG00000122483	chromatin interactions
ENSG00000140474	chromatin interactions
ENSG00000138303	chromatin interactions
ENSG00000122966	chromatin interactions
ENSG00000260035	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000143373	chromatin interactions
ENSG00000171763	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000149925	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000261709	chromatin interactions
ENSG00000137857	chromatin interactions
ENSG00000174243	chromatin interactions
ENSG00000140254	chromatin interactions
ENSG00000259539	chromatin interactions
ENSG00000092853	chromatin interactions
ENSG00000068028	chromatin interactions
ENSG00000132570	chromatin interactions
ENSG00000259519	chromatin interactions
ENSG00000166295	chromatin interactions
ENSG00000259338	chromatin interactions

Extended variants
information (count: 2570 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:2570 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1648305	chr15:45438537-45438538	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145148172	chr15:45438545-45438546	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs572913326	chr15:45438632-45438633	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs544745603	chr15:45438642-45438643	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs564738757	chr15:45438667-45438668	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs533545465	chr15:45438682-45438683	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs550543704	chr15:45438715-45438716	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs563964007	chr15:45438745-45438746	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs188438573	chr15:45438779-45438780	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs537220305	chr15:45438800-45438801	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs549402105	chr15:45438809-45438810	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs75476720	chr15:45438860-45438861	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs535153323	chr15:45438992-45438993	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs115023918	chr15:45438997-45438998	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs562055093	chr15:45439059-45439060	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs571465912	chr15:45439064-45439065	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs55675432	chr15:45439077-45439078	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs147581515	chr15:45439087-45439088	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs573599398	chr15:45439101-45439102	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs181388715	chr15:45439150-45439151	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs116470495	chr15:45439191-45439192	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs572737054	chr15:45439294-45439295	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs115708559	chr15:45439332-45439333	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs564828210	chr15:45439367-45439368	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs578235461	chr15:45439380-45439381	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs544040383	chr15:45439407-45439408	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs184419497	chr15:45439481-45439482	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs368274327	chr15:45439590-45439591	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs116153032	chr15:45439609-45439610	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs375234264	chr15:45439628-45439629	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs143486047	chr15:45439651-45439652	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs200102941	chr15:45439652-45439653	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs559724860	chr15:45439654-45439655	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs528471741	chr15:45439673-45439674	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs551889836	chr15:45439690-45439691	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs146747045	chr15:45439691-45439692	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs201192500	chr15:45439695-45439696	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs369697625	chr15:45439708-45439709	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs550380679	chr15:45439723-45439724	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs367870737	chr15:45439733-45439734	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs371652459	chr15:45439761-45439762	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs148880743	chr15:45439768-45439769	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs143543011	chr15:45439820-45439821	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs370712979	chr15:45439821-45439822	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs567087120	chr15:45439838-45439839	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs202033460	chr15:45439842-45439843	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs151069906	chr15:45439849-45439850	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs374721890	chr15:45439851-45439852	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs552972667	chr15:45439863-45439864	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs376479106	chr15:45439884-45439885	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2669 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45426600-45440200	Weak transcription	HMEC	breast
2	chr15:45427600-45458600	Weak transcription	Right Atrium	heart
3	chr15:45428600-45444400	Weak transcription	Pancreas	Pancrea
4	chr15:45428600-45449000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr15:45429400-45443800	Weak transcription	Ovary	ovary
6	chr15:45430000-45441200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:45430200-45446200	Weak transcription	Brain Anterior Caudate	brain
8	chr15:45431400-45449000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr15:45431800-45442600	Weak transcription	Fetal Intestine Small	intestine
10	chr15:45434800-45457800	Weak transcription	Adipose Nuclei	Adipose
11	chr15:45435200-45444000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr15:45436400-45440000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:45436400-45444000	Weak transcription	Brain Hippocampus Middle	brain
14	chr15:45436600-45438800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:45437200-45438800	Weak transcription	Esophagus	oesophagus
16	chr15:45437800-45438800	Weak transcription	Lung	lung
17	chr15:45438200-45438600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:45438200-45438800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:45438200-45438800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:45438200-45438800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr15:45438200-45439000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:45438200-45439000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:45438200-45439400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:45438200-45439600	Enhancers	Placenta	Placenta
25	chr15:45438400-45439000	Enhancers	Gastric	stomach
26	chr15:45438400-45439000	Enhancers	Stomach Mucosa	stomach
27	chr15:45438400-45439200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr15:45438400-45441600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:45438400-45441600	Genic enhancers	NHEK	skin
30	chr15:45438400-45442600	Weak transcription	Spleen	Spleen
31	chr15:45438600-45438800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr15:45438600-45438800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr15:45438600-45438800	Enhancers	NHDF-Ad	bronchial
34	chr15:45438600-45439000	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr15:45438600-45439000	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr15:45438600-45439000	Enhancers	Osteobl	bone
37	chr15:45438800-45439000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr15:45438800-45439400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr15:45438800-45439600	Genic enhancers	Lung	lung
40	chr15:45438800-45440000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:45438800-45440400	Weak transcription	NHDF-Ad	bronchial
42	chr15:45438800-45440600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:45438800-45441600	Genic enhancers	Esophagus	oesophagus
44	chr15:45438800-45455000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr15:45439000-45439800	Weak transcription	Gastric	stomach
46	chr15:45439000-45440000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr15:45439000-45440400	Weak transcription	Osteobl	bone
48	chr15:45439000-45454800	Weak transcription	Stomach Mucosa	stomach
49	chr15:45439000-45457800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr15:45439000-45458000	Weak transcription	Rectal Mucosa Donor 29	rectum

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