Variant report

Variant	esv1831516
Chromosome Location	chr20:52437245-52514913
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2254)
CpG islands
(count:305)
Chromatin interactive
region (count:387)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2254 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:52489013-52489352	K562	blood:	n/a	n/a
2	ARID3A	chr20:52495155-52495568	HepG2	liver:	n/a	chr20:52495325-52495341 chr20:52495326-52495342
3	ARID3A	chr20:52481623-52482109	HepG2	liver:	n/a	n/a
4	ARID3A	chr20:52445714-52447174	K562	blood:	n/a	n/a
5	ARID3A	chr20:52446511-52447138	HepG2	liver:	n/a	n/a
6	ARID3A	chr20:52480376-52481195	HepG2	liver:	n/a	n/a
7	ARID3A	chr20:52482763-52483907	HepG2	liver:	n/a	n/a
8	ARID3A	chr20:52509709-52509991	K562	blood:	n/a	n/a
9	ARID3A	chr20:52512060-52512251	K562	blood:	n/a	n/a
10	ARID3A	chr20:52486307-52486677	HepG2	liver:	n/a	n/a
11	ARID3A	chr20:52487263-52487350	K562	blood:	n/a	n/a
12	ATF1	chr20:52509520-52510138	K562	blood:	n/a	n/a
13	ATF1	chr20:52492139-52492368	K562	blood:	n/a	n/a
14	ATF2	chr20:52456007-52456359	GM12878	blood:	n/a	n/a
15	ATF2	chr20:52454463-52454730	GM12878	blood:	n/a	n/a
16	ATF2	chr20:52450417-52450965	GM12878	blood:	n/a	n/a
17	ATF2	chr20:52446504-52447757	GM12878	blood:	n/a	n/a
18	ATF2	chr20:52463605-52464315	GM12878	blood:	n/a	n/a
19	ATF2	chr20:52509369-52510359	GM12878	blood:	n/a	n/a
20	ATF2	chr20:52446683-52447461	GM12878	blood:	n/a	n/a
21	ATF2	chr20:52509327-52511105	GM12878	blood:	n/a	n/a
22	ATF2	chr20:52450515-52450965	GM12878	blood:	n/a	n/a
23	ATF2	chr20:52489029-52489786	GM12878	blood:	n/a	n/a
24	ATF2	chr20:52485951-52486774	GM12878	blood:	n/a	n/a
25	ATF2	chr20:52485991-52486725	GM12878	blood:	n/a	n/a
26	ATF2	chr20:52489221-52489699	GM12878	blood:	n/a	n/a
27	ATF3	chr20:52445400-52446351	A549	lung:	n/a	n/a
28	ATF3	chr20:52492107-52492469	K562	blood:	n/a	n/a
29	ATF3	chr20:52492119-52492364	K562	blood:	n/a	n/a
30	BACH1	chr20:52501750-52501761	H1-hESC	embryonic stem cell:	n/a	n/a
31	BATF	chr20:52486055-52486655	GM12878	blood:	n/a	n/a
32	BATF	chr20:52509486-52510137	GM12878	blood:	n/a	n/a
33	BATF	chr20:52447181-52447361	GM12878	blood:	n/a	n/a
34	BATF	chr20:52443581-52443847	GM12878	blood:	n/a	n/a
35	BATF	chr20:52486101-52486576	GM12878	blood:	n/a	n/a
36	BATF	chr20:52447096-52447373	GM12878	blood:	n/a	n/a
37	BATF	chr20:52509386-52510211	GM12878	blood:	n/a	n/a
38	BCL11A	chr20:52509429-52510213	GM12878	blood:	n/a	n/a
39	BCL11A	chr20:52456026-52456343	GM12878	blood:	n/a	n/a
40	BCL11A	chr20:52509424-52510255	GM12878	blood:	n/a	n/a
41	BCL11A	chr20:52486267-52486603	GM12878	blood:	n/a	n/a
42	BCL3	chr20:52444538-52446335	A549	lung:	n/a	chr20:52446126-52446135 chr20:52446245-52446254
43	BCL3	chr20:52509700-52510181	GM12878	blood:	n/a	n/a
44	BCL3	chr20:52509439-52510267	GM12878	blood:	n/a	n/a
45	BCL3	chr20:52485902-52486618	GM12878	blood:	n/a	n/a
46	BCL3	chr20:52486033-52486871	A549	lung:	n/a	n/a
47	BCL3	chr20:52458887-52459236	GM12878	blood:	n/a	n/a
48	BCLAF1	chr20:52450308-52451007	GM12878	blood:	n/a	n/a
49	BCLAF1	chr20:52486018-52486664	GM12878	blood:	n/a	n/a
50	BCLAF1	chr20:52509343-52510275	GM12878	blood:	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	chr20:52492248-52492298	SKMC	muscle:	n/a
2	chr20:52493220-52493270	GM12878	blood:	n/a
3	chr20:52493596-52493646	NB4	blood:	n/a
4	chr20:52493220-52493270	ECC-1	luminal epithelium:	n/a
5	chr20:52493596-52493646	HRCEpiC	kidney:	n/a
6	chr20:52492209-52492259	PANC-1	pancreas:	n/a
7	chr20:52493238-52493288	Hela-S3	cervix:	n/a
8	chr20:52493220-52493270	Hela-S3	cervix:	n/a
9	chr20:52493596-52493646	HCF	heart:	n/a
10	chr20:52493596-52493646	Caco-2	colon:	n/a
11	chr20:52492209-52492259	Hela-S3	cervix:	n/a
12	chr20:52492248-52492298	SK-N-SH	brain:	n/a
13	chr20:52492209-52492259	PrEC	prostate:	n/a
14	chr20:52492248-52492298	HCM	heart:	n/a
15	chr20:52493596-52493646	LNCaP	prostate:	n/a
16	chr20:52492209-52492259	HCF	heart:	n/a
17	chr20:52493238-52493288	SK-N-SH	brain:	n/a
18	chr20:52492209-52492259	Caco-2	colon:	n/a
19	chr20:52492209-52492259	HL-60	blood:	n/a
20	chr20:52493220-52493270	NB4	blood:	n/a
21	chr20:52493596-52493646	AoSMC	blood vessel:	n/a
22	chr20:52492209-52492259	HNPCEpiC	eye:	n/a
23	chr20:52492248-52492298	T-47D	breast:	n/a
24	chr20:52492248-52492298	LNCaP	prostate:	n/a
25	chr20:52492209-52492259	K562	blood:	n/a
26	chr20:52493238-52493288	ECC-1	luminal epithelium:	n/a
27	chr20:52493238-52493288	AG04449	skin:	fetal
28	chr20:52493596-52493646	AG10803	skin:	n/a
29	chr20:52492209-52492259	HMEC	breast:	n/a
30	chr20:52492248-52492298	HEEpiC	esophagus:	n/a
31	chr20:52492248-52492298	NT2-D1	testis:	n/a
32	chr20:52492209-52492259	NHDF-neo	bronchial:	n/a
33	chr20:52493220-52493270	HIPEpiC	eye:	n/a
34	chr20:52493238-52493288	LNCaP	prostate:	n/a
35	chr20:52493220-52493270	SAEC	small airway:	n/a
36	chr20:52492248-52492298	HRE	kidney:	n/a
37	chr20:52492248-52492298	SK-N-MC	brain:	n/a
38	chr20:52492209-52492259	GM19239	blood:	n/a
39	chr20:52492248-52492298	AoSMC	blood vessel:	n/a
40	chr20:52493238-52493288	BE2_C	brain:	n/a
41	chr20:52493238-52493288	PrEC	prostate:	n/a
42	chr20:52493596-52493646	HUVEC	blood vessel:	n/a
43	chr20:52493220-52493270	NT2-D1	testis:	n/a
44	chr20:52493596-52493646	AG04449	skin:	fetal
45	chr20:52493238-52493288	NT2-D1	testis:	n/a
46	chr20:52493238-52493288	GM19239	blood:	n/a
47	chr20:52493238-52493288	SKMC	muscle:	n/a
48	chr20:52493596-52493646	BE2_C	brain:	n/a
49	chr20:52493238-52493288	HAEpiC	amniotic membrane:	n/a
50	chr20:52493596-52493646	ovcar-3	ovarian:	n/a

(count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Distal block	Cell Line	Cell type
1	chr20:52455663..52458624-chr20:52464778..52466415,2	K562	blood:
2	chr20:52195131..52196364-chr20:52481323..52482833,5	MCF-7	breast:
3	chr20:52476331..52478777-chr20:52492357..52493924,2	K562	blood:
4	chr20:52508084..52511476-chr20:55839330..55841787,4	MCF-7	breast:
5	chr20:52209805..52211171-chr20:52486045..52486721,5	MCF-7	breast:
6	chr20:52402683..52403207-chr20:52444983..52445959,2	MCF-7	breast:
7	chr20:52482916..52483597-chr20:52531915..52532688,3	MCF-7	breast:
8	chr20:52372168..52373252-chr20:52486020..52486949,8	MCF-7	breast:
9	chr20:52478179..52488683-chr20:55835744..55846940,26	MCF-7	breast:
10	chr20:52493164..52496400-chr20:52505534..52507273,4	K562	blood:
11	chr20:52500665..52501486-chr21:39381096..39382052,2	MCF-7	breast:
12	chr20:52488130..52488636-chr20:52532185..52533145,2	MCF-7	breast:
13	chr1:113247492..113249614-chr20:52480900..52482881,2	MCF-7	breast:
14	chr20:52405785..52406558-chr20:52486542..52487158,2	MCF-7	breast:
15	chr20:49327701..49329366-chr20:52480366..52482846,2	MCF-7	breast:
16	chr20:52237447..52238009-chr20:52486273..52486872,2	MCF-7	breast:
17	chr20:52366518..52369128-chr20:52482212..52484704,2	K562	blood:
18	chr20:52198566..52199340-chr20:52486130..52486973,2	MCF-7	breast:
19	chr20:52403342..52404336-chr20:52481470..52481988,2	MCF-7	breast:
20	chr20:52390427..52391199-chr20:52468797..52469307,2	MCF-7	breast:
21	chr20:52370915..52371906-chr20:52486506..52487009,2	MCF-7	breast:
22	chr20:52444785..52445389-chr20:52486199..52486870,2	MCF-7	breast:
23	chr20:52229027..52230007-chr20:52485802..52487058,7	MCF-7	breast:
24	chr17:56707630..56709159-chr20:52486995..52489742,2	MCF-7	breast:
25	chr1:46171138..46171687-chr20:52490756..52491385,2	MCF-7	breast:
26	chr20:52471901..52491673-chr20:55835708..55845674,34	MCF-7	breast:
27	chr20:52498095..52500309-chr20:52514634..52517144,2	K562	blood:
28	chr20:52486331..52486995-chr20:56784636..56785193,2	MCF-7	breast:
29	chr17:59490690..59492764-chr20:52480509..52482719,2	MCF-7	breast:
30	chr20:52479383..52482682-chr20:52485789..52487570,3	K562	blood:
31	chr20:52479837..52482598-chr22:27915640..27918350,2	MCF-7	breast:
32	chr20:52480778..52483491-chr8:116980046..116982684,2	MCF-7	breast:
33	chr20:52483037..52485677-chr9:12813088..12815674,2	MCF-7	breast:
34	chr13:28501323..28502030-chr20:52481842..52482437,2	MCF-7	breast:
35	chr20:52369629..52371487-chr20:52444483..52447130,3	K562	blood:
36	chr20:52480366..52482280-chr5:10249549..10251992,2	MCF-7	breast:
37	chr20:52488667..52491302-chr20:52499908..52502050,2	K562	blood:
38	chr20:52486162..52487003-chr20:52560102..52560781,3	MCF-7	breast:
39	chr17:59491669..59494227-chr20:52486642..52489549,2	MCF-7	breast:
40	chr20:52402635..52403327-chr20:52480213..52481045,2	MCF-7	breast:
41	chr20:52439309..52439863-chr20:52449043..52450008,2	MCF-7	breast:
42	chr17:57183000..57185082-chr20:52441701..52443951,2	MCF-7	breast:
43	chr20:52482153..52483628-chr20:52522532..52523384,3	MCF-7	breast:
44	chr20:52447680..52450529-chr3:63838228..63840003,2	MCF-7	breast:
45	chr17:59713012..59713653-chr20:52486037..52486698,3	MCF-7	breast:
46	chr20:52445630..52448175-chr20:52453269..52455432,3	K562	blood:
47	chr20:52462539..52463292-chr20:52480478..52481273,2	MCF-7	breast:
48	chr20:52278383..52278965-chr20:52482508..52483417,2	MCF-7	breast:
49	chr17:57917983..57919742-chr20:52443624..52445975,2	MCF-7	breast:
50	chr20:52373784..52374675-chr20:52482911..52483518,2	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSHZ2-4	chr20:52463387-52463584	XLOC_013570
2	lnc-TSHZ2-4	chr20:52465950-52466616	NONHSAT080405
3	lnc-TSHZ2-4	chr20:52464584-52464747	XLOC_013570
4	lnc-TSHZ2-4	chr20:52466270-52466442	XLOC_013570
5	lnc-TSHZ2-4	chr20:52463253-52463584	NONHSAT080405
6	lnc-PFDN4-6	chr20:52469245-52470170	NONHSAT080408
7	lnc-TSHZ2-4	chr20:52464562-52464737	XLOC_013570
8	lnc-PFDN4-6	chr20:52470249-52470254	NONHSAT080408
9	lnc-BCAS1-1	chr20:52443658-52443822	NONHSAT080403
10	lnc-TSHZ2-4	chr20:52465059-52465091	NONHSAT080405
11	lnc-TSHZ2-4	chr20:52468733-52468982	NONHSAT080405
12	lnc-TSHZ2-4	chr20:52464362-52465029	NONHSAT080405

No data

Variant related genes	Relation type
SUMO1P1	TF binding region
SUMO1P1	CpG island
ENSG00000139318	chromatin interactions
ENSG00000170832	chromatin interactions
ENSG00000233895	chromatin interactions
ENSG00000136492	chromatin interactions
ENSG00000179818	chromatin interactions
ENSG00000154217	chromatin interactions
ENSG00000133805	chromatin interactions
ENSG00000155366	chromatin interactions
ENSG00000150756	chromatin interactions
ENSG00000103227	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000114850	chromatin interactions
ENSG00000267882	chromatin interactions
ENSG00000160190	chromatin interactions
ENSG00000046647	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000108424	chromatin interactions
ENSG00000187742	chromatin interactions
ENSG00000108395	chromatin interactions
ENSG00000197323	chromatin interactions
ENSG00000108423	chromatin interactions
ENSG00000168298	chromatin interactions
ENSG00000259146	chromatin interactions
ENSG00000180573	chromatin interactions
ENSG00000163618	chromatin interactions
ENSG00000156976	chromatin interactions
ENSG00000265595	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000235448	chromatin interactions
ENSG00000184640	chromatin interactions
ENSG00000184924	chromatin interactions
ENSG00000229947	chromatin interactions
ENSG00000184009	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000124766	chromatin interactions
ENSG00000235415	chromatin interactions
ENSG00000135048	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000224738	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000163191	chromatin interactions
ENSG00000263826	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000106069	chromatin interactions
ENSG00000150753	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000242622	chromatin interactions
ENSG00000225563	chromatin interactions
ENSG00000259349	chromatin interactions
ENSG00000163655	chromatin interactions
ENSG00000226124	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000054793	chromatin interactions
ENSG00000241721	chromatin interactions
ENSG00000260793	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000197555	chromatin interactions
ENSG00000184863	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000267100	chromatin interactions
ENSG00000268628	chromatin interactions
ENSG00000178104	chromatin interactions
ENSG00000169564	chromatin interactions
ENSG00000180596	chromatin interactions
ENSG00000137259	chromatin interactions
ENSG00000163349	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000101115	chromatin interactions
ENSG00000213888	chromatin interactions
ENSG00000127328	chromatin interactions
ENSG00000236352	chromatin interactions
ENSG00000235527	chromatin interactions
ENSG00000216895	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000013288	chromatin interactions
ENSG00000129351	chromatin interactions
ENSG00000111057	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000267064	chromatin interactions
ENSG00000082701	chromatin interactions
ENSG00000135452	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000229848	chromatin interactions
ENSG00000127124	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000062725	chromatin interactions
ENSG00000231119	chromatin interactions
ENSG00000064787	chromatin interactions
ENSG00000108312	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000100105	chromatin interactions
ENSG00000126756	chromatin interactions
ENSG00000164823	chromatin interactions
TAOK1	miRNA target sites
TARBP1	miRNA target sites

Extended variants
information (count: 3611 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:3611 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577538166	chr20:52437258-52437259	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs543315157	chr20:52437259-52437260	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs111621761	chr20:52437337-52437338	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs78195199	chr20:52437366-52437367	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs185162455	chr20:52437395-52437396	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs6097603	chr20:52437400-52437401	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs6022779	chr20:52437475-52437476	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs552027842	chr20:52437476-52437477	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs532355359	chr20:52437500-52437501	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565447425	chr20:52437505-52437506	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs189972841	chr20:52437555-52437556	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs6091749	chr20:52437575-52437576	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs565986818	chr20:52437601-52437602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs567946366	chr20:52437616-52437617	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs370911104	chr20:52437622-52437623	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545198985	chr20:52437657-52437658	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375751987	chr20:52437690-52437691	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs6091750	chr20:52437699-52437700	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs182917465	chr20:52437730-52437731	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs566652269	chr20:52437784-52437785	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs116034353	chr20:52437805-52437806	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs557545284	chr20:52437808-52437809	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs117918485	chr20:52437813-52437814	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs11467896	chr20:52437827-52437828	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs75050964	chr20:52437841-52437842	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs537353193	chr20:52437849-52437850	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs138968721	chr20:52437888-52437889	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs573866563	chr20:52437907-52437908	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs6126976	chr20:52437920-52437921	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs559366882	chr20:52437928-52437929	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs188370725	chr20:52437959-52437960	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs372449133	chr20:52437976-52437977	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs374408232	chr20:52437983-52437984	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs565482738	chr20:52437986-52437987	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs368430272	chr20:52437987-52437988	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs143844209	chr20:52438001-52438002	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs561456616	chr20:52438060-52438061	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs6068681	chr20:52438061-52438062	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs546610909	chr20:52438064-52438065	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs546396105	chr20:52438071-52438072	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs34193630	chr20:52438072-52438073	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs368884283	chr20:52438085-52438086	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs6097604	chr20:52438179-52438180	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs536887714	chr20:52438224-52438225	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs557098794	chr20:52438234-52438235	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs573876506	chr20:52438268-52438269	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs536515992	chr20:52438347-52438348	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs191557916	chr20:52438435-52438436	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs79378869	chr20:52438439-52438440	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs545018478	chr20:52438477-52438478	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myelodysplastic syndrome	21251322	CNVD
Ductal carcinoma	22052326	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Ovarian cancer	22174824	CNVD
Lung cancer	16740712	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16620391	CNVD
Okamoto syndrome	17623483	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Cervical cancer	16585170	CNVD
Ovarian cancer	20844748	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20459607	CNVD
Gastric cancer	18160780	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:2807 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52426200-52456200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:52431600-52439400	Weak transcription	A549	lung
3	chr20:52435400-52442200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr20:52436000-52439400	Weak transcription	Thymus	Thymus
5	chr20:52436200-52437400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr20:52436400-52437600	Enhancers	Pancreas	Pancrea
7	chr20:52436800-52441200	Weak transcription	HepG2	liver
8	chr20:52437000-52439600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr20:52437600-52442600	Weak transcription	Pancreas	Pancrea
10	chr20:52439400-52440000	Enhancers	Thymus	Thymus
11	chr20:52439400-52440000	ZNF genes & repeats	A549	lung
12	chr20:52439600-52440000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr20:52440000-52441400	Weak transcription	A549	lung
14	chr20:52440000-52442600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr20:52440000-52444800	Weak transcription	Thymus	Thymus
16	chr20:52440600-52441400	Enhancers	Primary hematopoietic stem cells	blood
17	chr20:52440800-52445400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr20:52441000-52441200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr20:52441000-52443000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr20:52441000-52445000	Enhancers	Fetal Stomach	stomach
21	chr20:52441200-52446000	Enhancers	HepG2	liver
22	chr20:52441400-52441600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr20:52441400-52441600	Enhancers	Colon Smooth Muscle	Colon
24	chr20:52441400-52441600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr20:52441400-52442000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr20:52441400-52442000	Enhancers	Small Intestine	intestine
27	chr20:52441400-52442400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr20:52441400-52442600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr20:52441400-52443200	Weak transcription	Fetal Intestine Small	intestine
30	chr20:52441400-52443200	Enhancers	A549	lung
31	chr20:52441400-52443800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr20:52441600-52444600	Weak transcription	Colon Smooth Muscle	Colon
33	chr20:52441600-52445200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr20:52441800-52443400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr20:52441800-52444400	Enhancers	Fetal Lung	lung
36	chr20:52442000-52442200	Enhancers	Primary T cells from cord blood	blood
37	chr20:52442000-52442200	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr20:52442000-52442200	Enhancers	Fetal Kidney	kidney
39	chr20:52442000-52442200	Enhancers	Stomach Mucosa	stomach
40	chr20:52442000-52443600	Weak transcription	Small Intestine	intestine
41	chr20:52442000-52444600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr20:52442200-52442400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr20:52442200-52442400	Enhancers	Duodenum Mucosa	Duodenum
44	chr20:52442200-52443400	Weak transcription	Primary T cells from cord blood	blood
45	chr20:52442200-52443600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr20:52442400-52442800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr20:52442400-52443400	Weak transcription	Fetal Kidney	kidney
48	chr20:52442400-52443600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr20:52442400-52444800	Weak transcription	Stomach Mucosa	stomach
50	chr20:52442400-52445000	Weak transcription	Duodenum Mucosa	Duodenum

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