Variant report

Variant	nsv1066564
Chromosome Location	chr19:20056348-20595412
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2640)
CpG islands
(count:3180)
Chromatin interactive
region (count:24)
LncRNA
region (count:62)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:2640 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:20103566-20103765	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:20150099-20150414	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:20162795-20163547	HepG2	liver:	n/a	n/a
4	ARID3A	chr19:20277796-20277995	HepG2	liver:	n/a	n/a
5	ATF1	chr19:20277755-20278020	K562	blood:	n/a	n/a
6	ATF1	chr19:20349244-20349443	K562	blood:	n/a	n/a
7	ATF1	chr19:20289866-20289929	K562	blood:	n/a	n/a
8	ATF1	chr19:20344010-20344175	K562	blood:	n/a	n/a
9	ATF1	chr19:20153260-20153552	K562	blood:	n/a	n/a
10	ATF1	chr19:20162792-20163523	K562	blood:	n/a	n/a
11	ATF1	chr19:20357835-20358030	K562	blood:	n/a	n/a
12	ATF2	chr19:20278020-20278358	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr19:20348954-20349352	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr19:20193391-20193678	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr19:20162692-20163573	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr19:20213875-20214282	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr19:20067472-20067936	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF3	chr19:20188548-20188771	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr19:20149962-20150229	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr19:20478616-20479240	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr19:20349018-20349218	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr19:20111633-20111647	K562	blood:	n/a	n/a
23	BACH1	chr19:20213028-20213042	H1-hESC	embryonic stem cell:	n/a	n/a
24	BATF	chr19:20290881-20291101	GM12878	blood:	n/a	chr19:20291013-20291024 chr19:20291014-20291024
25	BATF	chr19:20272241-20272396	GM12878	blood:	n/a	n/a
26	BATF	chr19:20172606-20172805	GM12878	blood:	n/a	n/a
27	BATF	chr19:20169491-20169839	GM12878	blood:	n/a	chr19:20169641-20169652 chr19:20169642-20169652
28	BATF	chr19:20460030-20460189	GM12878	blood:	n/a	chr19:20460120-20460131 chr19:20460121-20460131
29	BATF	chr19:20290857-20291100	GM12878	blood:	n/a	chr19:20291013-20291024 chr19:20291014-20291024
30	BATF	chr19:20461481-20461636	GM12878	blood:	n/a	n/a
31	BATF	chr19:20071227-20071388	GM12878	blood:	n/a	n/a
32	BATF	chr19:20169489-20169738	GM12878	blood:	n/a	chr19:20169641-20169652 chr19:20169642-20169652
33	BATF	chr19:20461475-20461637	GM12878	blood:	n/a	n/a
34	BHLHE40	chr19:20162803-20163166	K562	blood:	n/a	n/a
35	BHLHE40	chr19:20471668-20471688	K562	blood:	n/a	n/a
36	BHLHE40	chr19:20343872-20344192	K562	blood:	n/a	n/a
37	BHLHE40	chr19:20070163-20070165	K562	blood:	n/a	n/a
38	BHLHE40	chr19:20163508-20163708	GM12878	blood:	n/a	n/a
39	BRCA1	chr19:20426599-20426652	GM12878	blood:	n/a	n/a
40	BRCA1	chr19:20328741-20328829	H1-hESC	embryonic stem cell:	n/a	n/a
41	BRCA1	chr19:20162632-20162998	HepG2	liver:	n/a	n/a
42	BRCA1	chr19:20149987-20150214	H1-hESC	embryonic stem cell:	n/a	n/a
43	BRCA1	chr19:20348754-20348954	H1-hESC	embryonic stem cell:	n/a	n/a
44	BRCA1	chr19:20278082-20278233	H1-hESC	embryonic stem cell:	n/a	n/a
45	CBX3	chr19:20069962-20070297	K562	blood:	n/a	n/a
46	CBX3	chr19:20077721-20077986	K562	blood:	n/a	n/a
47	CBX3	chr19:20077683-20078014	K562	blood:	n/a	n/a
48	CEBPB	chr19:20297059-20297284	MCF-7	breast:	n/a	chr19:20297167-20297178
49	CEBPB	chr19:20355557-20355801	IMR90	lung:	n/a	chr19:20355678-20355689
50	CEBPB	chr19:20264117-20264431	MCF-7	breast:	n/a	n/a

(count:3180 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:20150232-20150282	GM12892	blood:	n/a
2	chr19:20585212-20585262	PANC-1	pancreas:	n/a
3	chr19:20278051-20278101	NB4	blood:	n/a
4	chr19:20349303-20349353	BJ	skin:	n/a
5	chr19:20278051-20278101	HCM	heart:	n/a
6	chr19:20187337-20187387	HCPEpiC	choroid plexus:	n/a
7	chr19:20188738-20188788	IMR90	lung:	fetal
8	chr19:20150943-20150993	AG04450	lung:	fetal
9	chr19:20150232-20150282	GM12892	blood:	n/a
10	chr19:20585212-20585262	PANC-1	pancreas:	n/a
11	chr19:20278051-20278101	NB4	blood:	n/a
12	chr19:20349303-20349353	BJ	skin:	n/a
13	chr19:20278051-20278101	HCM	heart:	n/a
14	chr19:20187337-20187387	HCPEpiC	choroid plexus:	n/a
15	chr19:20188738-20188788	IMR90	lung:	fetal
16	chr19:20150943-20150993	AG04450	lung:	fetal
17	chr19:20188738-20188788	MCF-7	breast:	n/a
18	chr19:20278059-20278109	T-47D	breast:	n/a
19	chr19:20149684-20149734	HCPEpiC	choroid plexus:	n/a
20	chr19:20150242-20150292	HMEC	breast:	n/a
21	chr19:20585212-20585262	SK-N-SH	brain:	n/a
22	chr19:20585206-20585256	PrEC	prostate:	n/a
23	chr19:20187307-20187357	PrEC	prostate:	n/a
24	chr19:20349250-20349300	SK-N-SH	brain:	n/a
25	chr19:20278423-20278473	SKMC	muscle:	n/a
26	chr19:20277919-20277969	HMEC	breast:	n/a
27	chr19:20163027-20163077	PFSK-1	brain:	n/a
28	chr19:20277051-20277101	GM12892	blood:	n/a
29	chr19:20152700-20152750	HCPEpiC	choroid plexus:	n/a
30	chr19:20585206-20585256	NB4	blood:	n/a
31	chr19:20150943-20150993	HCM	heart:	n/a
32	chr19:20149831-20149881	GM12878	blood:	n/a
33	chr19:20585206-20585256	GM12891	blood:	n/a
34	chr19:20149684-20149734	NHBE	bronchial:	n/a
35	chr19:20576478-20576528	AG04449	skin:	fetal
36	chr19:20276916-20276966	AoSMC	blood vessel:	n/a
37	chr19:20162840-20162890	HNPCEpiC	eye:	n/a
38	chr19:20163027-20163077	LNCaP	prostate:	n/a
39	chr19:20278051-20278101	SK-N-SH_RA	brain:	n/a
40	chr19:20278059-20278109	MCF-7	breast:	n/a
41	chr19:20349250-20349300	GM06990	blood:	n/a
42	chr19:20349303-20349353	SAEC	small airway:	n/a
43	chr19:20278423-20278473	ProgFib	skin:	n/a
44	chr19:20278144-20278194	HEEpiC	esophagus:	n/a
45	chr19:20188738-20188788	SKMC	muscle:	n/a
46	chr19:20349250-20349300	NT2-D1	testis:	n/a
47	chr19:20369061-20369111	HCPEpiC	choroid plexus:	n/a
48	chr19:20349252-20349302	HAEpiC	amniotic membrane:	n/a
49	chr19:20585206-20585256	SAEC	small airway:	n/a
50	chr19:20277051-20277101	GM12878	blood:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19743070..19745753-chr19:20069128..20070689,2	MCF-7	breast:
2	chr19:20153292..20157209-chr19:20159968..20162896,6	MCF-7	breast:
3	chr19:19772761..19775083-chr19:20066186..20068546,2	MCF-7	breast:
4	chr19:20150205..20157347-chr19:20159192..20163449,8	MCF-7	breast:
5	chr19:19886225..19889076-chr19:20160261..20164492,4	MCF-7	breast:
6	chr19:20159294..20161641-chr19:20161675..20163278,2	MCF-7	breast:
7	chr19:20158142..20160017-chr19:20161211..20163624,2	MCF-7	breast:
8	chr19:20160443..20163353-chr19:20178782..20180876,2	MCF-7	breast:
9	chr19:19976102..19978027-chr19:20081868..20083854,2	K562	blood:
10	chr19:20125599..20128590-chr19:20148799..20150667,2	MCF-7	breast:
11	chr19:20048311..20052863-chr19:20053827..20056431,4	K562	blood:
12	chr19:20124182..20126498-chr19:20128063..20130239,2	MCF-7	breast:
13	chr19:20153292..20157209-chr19:20159968..20162896,6	MCF-7	breast:
14	chr19:20124182..20126498-chr19:20128063..20130239,2	MCF-7	breast:
15	chr19:20107929..20110799-chr19:21687232..21688823,2	MCF-7	breast:
16	chr19:20142180..20144378-chr19:20148043..20150229,2	MCF-7	breast:
17	chr19:20161148..20163684-chr19:20228612..20230172,2	MCF-7	breast:
18	chr19:20160443..20163353-chr19:20178782..20180876,2	MCF-7	breast:
19	chr19:20159294..20161641-chr19:20161675..20163278,2	MCF-7	breast:
20	chr19:20142180..20144378-chr19:20148043..20150229,2	MCF-7	breast:
21	chr19:19886850..19889020-chr19:20162387..20164184,2	MCF-7	breast:
22	chr19:20161148..20163684-chr19:20228612..20230172,2	MCF-7	breast:
23	chr19:20158142..20160017-chr19:20161211..20163624,2	MCF-7	breast:
24	chr19:19887367..19888020-chr19:20162266..20162852,2	MCF-7	breast:

(count:62 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF682-3	chr19:20242703-20242756	NONHSAT063631
2	lnc-ZNF737-3	chr19:20575923-20579006	NONHSAT063654
3	lnc-ZNF682-1	chr19:20326955-20328125	ENSG00000251268
4	lnc-ZNF682-3	chr19:20243270-20243396	NONHSAT063631
5	lnc-ZNF93-1	chr19:20073928-20074273	ENSG00000267268.1
6	lnc-ZNF486-7	chr19:20188846-20188944	NONHSAT063624
7	lnc-ZNF486-5	chr19:20359861-20359993	NONHSAT063644
8	lnc-ZNF486-9	chr19:20591746-20591845	NONHSAT063655
9	lnc-ZNF486-5	chr19:20361026-20361104	NONHSAT063644
10	lnc-ZNF737-3	chr19:20519759-20519854	NONHSAT063652
11	lnc-ZNF682-1	chr19:20331132-20331228	ENSG00000251268
12	lnc-ZNF682-4	chr19:20285822-20286138	NONHSAT063634
13	lnc-ZNF486-8	chr19:20462311-20462888	NONHSAT063650
14	lnc-ZNF682-5	chr19:20318001-20320598	NONHSAT063637
15	lnc-ZNF682-3	chr19:20349097-20349240	ENSG00000267383.2
16	lnc-ZNF737-3	chr19:20578626-20579006	NR_036455
17	lnc-ZNF682-2	chr19:20190979-20191348	NONHSAT063625
18	lnc-ZNF506-8	chr19:20141526-20141691	NONHSAT063621
19	lnc-ZNF682-4	chr19:20287656-20287872	NONHSAT063634
20	lnc-ZNF737-3	chr19:20509467-20509847	NONHSAT063652
21	lnc-ZNF737-3	chr19:20451177-20451910	NONHSAT063649
22	lnc-ZNF486-1	chr19:20359548-20359682	XLOC_012999
23	lnc-ZNF93-1	chr19:20067547-20067825	ENSG00000267268.1
24	lnc-ZNF90-2	chr19:20173564-20174129	NONHSAT063623
25	lnc-ZNF486-1	chr19:20359091-20359256	XLOC_012999
26	lnc-ZNF506-8	chr19:20141802-20141922	NONHSAT063621
27	lnc-ZNF90-3	chr19:20144253-20144356	NONHSAT063622
28	lnc-ZNF682-6	chr19:20331406-20332995	NONHSAT063639
29	lnc-ZNF737-3	chr19:20516818-20516941	NONHSAT063652
30	lnc-ZNF737-3	chr19:20591750-20591824	NR_036455
31	lnc-ZNF682-7	chr19:20434801-20435377	NONHSAT063647
32	lnc-ZNF486-6	chr19:20378626-20379200	NONHSAT063645
33	lnc-ZNF737-3	chr19:20486769-20486818	NONHSAT063648
34	lnc-ZNF682-3	chr19:20349097-20349261	ENSG00000267383.2
35	lnc-ZNF682-3	chr19:20236228-20236318	ENSG00000267383.2
36	lnc-ZNF682-3	chr19:20243270-20243396	ENSG00000267383.2
37	lnc-ZNF682-2	chr19:20190627-20190757	NONHSAT063625
38	lnc-ZNF682-3	chr19:20338819-20339292	ENSG00000267383.2
39	lnc-ZNF486-4	chr19:20235815-20235952	NONHSAT063627
40	lnc-ZNF737-3	chr19:20591750-20591824	NONHSAT063654
41	lnc-ZNF737-3	chr19:20515776-20516941	NONHSAT063653
42	lnc-ZNF682-3	chr19:20236354-20236592	ENSG00000267383.2
43	lnc-ZNF486-3	chr19:20332678-20333272	NONHSAT063642
44	lnc-ZNF486-7	chr19:20190596-20191128	NONHSAT063624
45	lnc-ZNF682-3	chr19:20431995-20432114	ENSG00000267383.2
46	lnc-ZNF486-4	chr19:20231633-20232155	NONHSAT063627
47	lnc-ZNF682-3	chr19:20412118-20412196	ENSG00000267383.2
48	lnc-ZNF506-8	chr19:20150152-20150259	NONHSAT063621
49	lnc-ZNF93-1	chr19:20069298-20069363	ENSG00000267268.1
50	lnc-ZNF682-3	chr19:20351309-20351446	ENSG00000267383.2

miRNA name	Chromosome Location	mirBase accession
hsa-miR-1270	chr19:20510129-20510151	MIMAT0005924
hsa-miR-1270	chr19:20579288-20579310	MIMAT0005924_1

No data

Variant related genes	Relation type
ZNF486	TF binding region
ENSG00000224864	TF binding region
ENSG00000269055	TF binding region
ENSG00000267771	TF binding region
MIR1270-2	TF binding region
ENSG00000240673	TF binding region
ENSG00000269154	TF binding region
ENSG00000268174	TF binding region
ENSG00000269274	TF binding region
MIR1270-1	TF binding region
ENSG00000264441	TF binding region
ENSG00000268070	TF binding region
ENSG00000271524	TF binding region
ZNF682	TF binding region
ENSG00000270716	TF binding region
ENSG00000266609	TF binding region
ENSG00000268620	TF binding region
ENSG00000221181	TF binding region
ENSG00000267220	TF binding region
ENSG00000271638	TF binding region
ENSG00000213985	TF binding region
ENSG00000269372	TF binding region
ZNF826P	TF binding region
ENSG00000267641	TF binding region
ZNF90	TF binding region
ENSG00000271704	TF binding region
ENSG00000267383	TF binding region
ZNF486	CpG island
ENSG00000224864	CpG island
ENSG00000269055	CpG island
ENSG00000267771	CpG island
MIR1270-2	CpG island
ENSG00000240673	CpG island
ENSG00000269154	CpG island
ENSG00000268174	CpG island
ENSG00000269274	CpG island
MIR1270-1	CpG island
ENSG00000264441	CpG island
ENSG00000268070	CpG island
ENSG00000271524	CpG island
ZNF682	CpG island
ENSG00000270716	CpG island
ENSG00000266609	CpG island
ENSG00000268620	CpG island
ENSG00000221181	CpG island
ENSG00000267220	CpG island
ENSG00000271638	CpG island
ENSG00000213985	CpG island
ENSG00000269372	CpG island
ZNF826P	CpG island
ENSG00000267641	CpG island
ZNF90	CpG island
ENSG00000271704	CpG island
ENSG00000267383	CpG island
ENSG00000266904	chromatin interactions
ENSG00000268461	chromatin interactions
ENSG00000197013	chromatin interactions
ENSG00000105726	chromatin interactions
ENSG00000268070	chromatin interactions
ENSG00000267419	chromatin interactions
ENSG00000256771	chromatin interactions
ENSG00000197124	chromatin interactions
FXN	Mature miRNA region
UBAP2L	miRNA target sites
ARID3B	miRNA target sites

Extended variants
information (count: 19360 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:19360 , 50 per page) page: 1 2 3 4 5 6 7 ... 388

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7258519	chr19:20056348-20056349	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554005686	chr19:20056380-20056381	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs536351241	chr19:20056399-20056400	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs180699523	chr19:20056421-20056422	Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs559489212	chr19:20056441-20056442	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs57920747	chr19:20056443-20056444	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs562803624	chr19:20056456-20056457	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs575915125	chr19:20056480-20056481	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs544975286	chr19:20056540-20056541	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs564567507	chr19:20056560-20056561	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs527382909	chr19:20056606-20056607	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs59932376	chr19:20056625-20056626	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs186040001	chr19:20056628-20056629	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs386807568	chr19:20056654-20056655	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs55700550	chr19:20056655-20056656	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs202104010	chr19:20056670-20056671	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs540996086	chr19:20056690-20056691	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs189349435	chr19:20056743-20056744	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs538188787	chr19:20056763-20056764	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs551727577	chr19:20056769-20056770	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs368512143	chr19:20056835-20056836	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs534277646	chr19:20056867-20056868	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs554317702	chr19:20056872-20056873	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs527698171	chr19:20056887-20056888	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs573832875	chr19:20056950-20056951	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs140771571	chr19:20056967-20056968	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs181174214	chr19:20056972-20056973	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs576265567	chr19:20056980-20056981	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs545023161	chr19:20057006-20057007	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs558121800	chr19:20057096-20057097	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs149695005	chr19:20057132-20057133	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs147759067	chr19:20057201-20057202	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs185771924	chr19:20057202-20057203	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs560675072	chr19:20057231-20057232	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs528259523	chr19:20057341-20057342	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs529429824	chr19:20057373-20057374	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs543188663	chr19:20057374-20057375	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs562966662	chr19:20057385-20057386	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs532026653	chr19:20057400-20057401	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs551826491	chr19:20057406-20057407	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs560740213	chr19:20057451-20057452	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs73530999	chr19:20057462-20057463	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs116764190	chr19:20057491-20057492	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs114409195	chr19:20057499-20057500	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs567748342	chr19:20057532-20057533	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs141146075	chr19:20057545-20057546	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs556321294	chr19:20057604-20057605	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs563486489	chr19:20057652-20057653	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs147104658	chr19:20057665-20057666	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs532220527	chr19:20057699-20057700	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Nasopharyngeal cancer	20548289	CNVD
Schizophrenia	20967226	CNVD
Colorectal cancer	20459617	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Type 2 diabetes	21526130	CNVD
Acute myeloid leukemia	20962326	CNVD
Glioma	20126413	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Obesity	21131291	CNVD
Bipolar disorder	19214233	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Autism	20841430	CNVD
Autism	19492091	CNVD

Chromatin state (count:5785 , 50 per page) page: 1 2 3 4 5 6 7 ... 116

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20055000-20057800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:20056200-20057800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr19:20058200-20059200	ZNF genes & repeats	Dnd41	blood
4	chr19:20059200-20060400	Enhancers	Dnd41	blood
5	chr19:20064800-20065800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr19:20064800-20066000	Enhancers	Ovary	ovary
7	chr19:20067200-20067400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr19:20067200-20067400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:20067200-20067400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:20067200-20067400	Active TSS	Brain Germinal Matrix	brain
11	chr19:20067200-20067600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:20067200-20067600	Enhancers	Fetal Brain Male	brain
13	chr19:20067200-20067800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:20067200-20067800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr19:20067200-20067800	Active TSS	Fetal Brain Female	brain
16	chr19:20067400-20067600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
17	chr19:20067400-20067600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr19:20067400-20067600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:20067400-20067600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr19:20067400-20067800	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr19:20067400-20067800	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr19:20067400-20067800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:20067400-20067800	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr19:20067400-20067800	Enhancers	Fetal Muscle Trunk	muscle
25	chr19:20067600-20067800	Active TSS	H1 Cell Line	embryonic stem cell
26	chr19:20067600-20067800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr19:20067800-20068000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr19:20067800-20071400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:20069800-20070000	Enhancers	Primary T cells fromperipheralblood	blood
30	chr19:20069800-20070200	Enhancers	Primary B cells from peripheral blood	blood
31	chr19:20069800-20070200	Active TSS	Brain Anterior Caudate	brain
32	chr19:20070000-20070200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr19:20070000-20070200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr19:20070000-20070200	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr19:20070000-20070200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr19:20070000-20070200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr19:20070000-20070200	Enhancers	Adipose Nuclei	Adipose
38	chr19:20076800-20077800	ZNF genes & repeats	Spleen	Spleen
39	chr19:20076800-20078400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
40	chr19:20077400-20078000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
41	chr19:20103800-20106800	Weak transcription	Esophagus	oesophagus
42	chr19:20105000-20105200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr19:20105200-20105400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
44	chr19:20105400-20112800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr19:20106800-20107000	ZNF genes & repeats	Esophagus	oesophagus
46	chr19:20107400-20118600	Weak transcription	Right Atrium	heart
47	chr19:20108200-20109000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr19:20108400-20109000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
49	chr19:20108600-20109000	Enhancers	Brain Substantia Nigra	brain
50	chr19:20109000-20115400	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links