Variant report

Variant	nsv1055549
Chromosome Location	chr20:52555871-52586281
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1177)
CpG islands
(count:61)
Chromatin interactive
region (count:204)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1177 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:52576860-52577060	HepG2	liver:	n/a	n/a
2	ARID3A	chr20:52556351-52556816	HepG2	liver:	n/a	n/a
3	ARID3A	chr20:52559568-52559737	HepG2	liver:	n/a	n/a
4	ARID3A	chr20:52571120-52571722	HepG2	liver:	n/a	n/a
5	ARID3A	chr20:52560256-52560607	HepG2	liver:	n/a	n/a
6	ARID3A	chr20:52560225-52560731	K562	blood:	n/a	n/a
7	ARID3A	chr20:52556328-52556808	K562	blood:	n/a	n/a
8	ATF1	chr20:52557797-52558059	K562	blood:	n/a	n/a
9	ATF1	chr20:52556460-52556792	K562	blood:	n/a	n/a
10	ATF1	chr20:52565841-52566144	K562	blood:	n/a	n/a
11	ATF2	chr20:52558530-52559147	GM12878	blood:	n/a	n/a
12	ATF2	chr20:52565628-52566196	GM12878	blood:	n/a	n/a
13	ATF2	chr20:52565475-52566218	GM12878	blood:	n/a	n/a
14	ATF2	chr20:52556332-52556992	GM12878	blood:	n/a	n/a
15	ATF2	chr20:52556289-52556872	GM12878	blood:	n/a	n/a
16	BATF	chr20:52556455-52556772	GM12878	blood:	n/a	n/a
17	BATF	chr20:52565806-52566182	GM12878	blood:	n/a	n/a
18	BCL11A	chr20:52565853-52566231	GM12878	blood:	n/a	chr20:52566014-52566023
19	BCL11A	chr20:52565821-52566231	GM12878	blood:	n/a	chr20:52566014-52566023
20	BCL3	chr20:52555964-52556839	A549	lung:	n/a	n/a
21	BCLAF1	chr20:52556129-52556825	GM12878	blood:	n/a	n/a
22	BCLAF1	chr20:52565762-52566258	GM12878	blood:	n/a	chr20:52566014-52566023
23	BCLAF1	chr20:52557691-52558037	GM12878	blood:	n/a	n/a
24	BCLAF1	chr20:52556036-52556925	GM12878	blood:	n/a	n/a
25	BHLHE40	chr20:52556434-52556908	GM12878	blood:	n/a	n/a
26	BHLHE40	chr20:52565660-52566200	GM12878	blood:	n/a	n/a
27	BHLHE40	chr20:52557840-52558030	GM12878	blood:	n/a	n/a
28	BHLHE40	chr20:52558636-52559157	GM12878	blood:	n/a	n/a
29	BHLHE40	chr20:52556472-52557350	K562	blood:	n/a	n/a
30	BRCA1	chr20:52556848-52556982	GM12878	blood:	n/a	n/a
31	BRCA1	chr20:52556188-52556734	HepG2	liver:	n/a	n/a
32	BRCA1	chr20:52559074-52559096	GM12878	blood:	n/a	n/a
33	CBX3	chr20:52556350-52556844	K562	blood:	n/a	n/a
34	CEBPB	chr20:52560304-52560555	HepG2	liver:	n/a	chr20:52560463-52560474
35	CEBPB	chr20:52577372-52577624	IMR90	lung:	n/a	n/a
36	CEBPB	chr20:52560320-52560622	Hela-S3	cervix:	n/a	chr20:52560463-52560474
37	CEBPB	chr20:52556111-52556817	HepG2	liver:	n/a	chr20:52556562-52556573
38	CEBPB	chr20:52571266-52571497	HepG2	liver:	n/a	n/a
39	CEBPB	chr20:52556151-52556815	K562	blood:	n/a	chr20:52556562-52556573
40	CEBPB	chr20:52560204-52560771	A549	lung:	n/a	chr20:52560463-52560474
41	CEBPB	chr20:52556156-52556956	HCT-116	colon:	n/a	chr20:52556562-52556573
42	CEBPB	chr20:52580675-52580790	K562	blood:	n/a	n/a
43	CEBPB	chr20:52571250-52571686	HepG2	liver:	n/a	n/a
44	CEBPB	chr20:52558817-52559092	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr20:52556164-52556754	K562	blood:	n/a	chr20:52556562-52556573
46	CEBPB	chr20:52560305-52560629	K562	blood:	n/a	chr20:52560463-52560474
47	CEBPB	chr20:52559579-52559778	HepG2	liver:	n/a	chr20:52559701-52559712
48	CEBPB	chr20:52559535-52559896	HepG2	liver:	n/a	chr20:52559701-52559712
49	CEBPB	chr20:52555797-52556902	A549	lung:	n/a	chr20:52556562-52556573
50	CEBPB	chr20:52555843-52556814	K562	blood:	n/a	chr20:52556562-52556573

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:52561293-52561343	Jurkat	blood:	n/a
2	chr20:52561293-52561343	SAEC	small airway:	n/a
3	chr20:52561293-52561343	GM19239	blood:	n/a
4	chr20:52561293-52561343	AG10803	skin:	n/a
5	chr20:52561293-52561343	BJ	skin:	n/a
6	chr20:52561293-52561343	Hela-S3	cervix:	n/a
7	chr20:52561293-52561343	AG04450	lung:	fetal
8	chr20:52561293-52561343	ProgFib	skin:	n/a
9	chr20:52561293-52561343	H1-hESC	embryonic stem cell:	embryo
10	chr20:52561293-52561343	HPAEpiC	pulmonary alveolar:	n/a
11	chr20:52561293-52561343	NHDF-neo	bronchial:	n/a
12	chr20:52561293-52561343	T-47D	breast:	n/a
13	chr20:52561293-52561343	HIPEpiC	eye:	n/a
14	chr20:52561293-52561343	Hepatocyte	liver:	n/a
15	chr20:52561293-52561343	HRCEpiC	kidney:	n/a
16	chr20:52561293-52561343	AoSMC	blood vessel:	n/a
17	chr20:52561293-52561343	GM12878	blood:	n/a
18	chr20:52561293-52561343	HCM	heart:	n/a
19	chr20:52561293-52561343	AG04449	skin:	fetal
20	chr20:52561293-52561343	HL-60	blood:	n/a
21	chr20:52561293-52561343	PFSK-1	brain:	n/a
22	chr20:52561293-52561343	RPTEC	kidney:	n/a
23	chr20:52561293-52561343	GM12892	blood:	n/a
24	chr20:52561293-52561343	HMEC	breast:	n/a
25	chr20:52561293-52561343	NHBE	bronchial:	n/a
26	chr20:52561293-52561343	MCF-7	breast:	n/a
27	chr20:52561293-52561343	Caco-2	colon:	n/a
28	chr20:52561293-52561343	ovcar-3	ovarian:	n/a
29	chr20:52561293-52561343	HUVEC	blood vessel:	n/a
30	chr20:52561293-52561343	AG09319	gingival:	n/a
31	chr20:52561293-52561343	HRPEpiC	eye:	n/a
32	chr20:52561293-52561343	LNCaP	prostate:	n/a
33	chr20:52561293-52561343	GM12891	blood:	n/a
34	chr20:52561293-52561343	NB4	blood:	n/a
35	chr20:52561293-52561343	A549	lung:	n/a
36	chr20:52561293-52561343	ECC-1	luminal epithelium:	n/a
37	chr20:52561293-52561343	K562	blood:	n/a
38	chr20:52561293-52561343	MCF10A-Er-Src	breast:	n/a
39	chr20:52561293-52561343	U87	brain:	n/a
40	chr20:52561293-52561343	AG09309	skin:	n/a
41	chr20:52561293-52561343	NT2-D1	testis:	n/a
42	chr20:52561293-52561343	HepG2	liver:	n/a
43	chr20:52561293-52561343	SK-N-SH	brain:	n/a
44	chr20:52561293-52561343	HCF	heart:	n/a
45	chr20:52561293-52561343	HEK293	kidney:	embryo
46	chr20:52561293-52561343	SKMC	muscle:	n/a
47	chr20:52561293-52561343	NH-A	brain:	n/a
48	chr20:52561293-52561343	HAEpiC	amniotic membrane:	n/a
49	chr20:52561293-52561343	HCPEpiC	choroid plexus:	n/a
50	chr20:52561293-52561343	HEEpiC	esophagus:	n/a

(count:204 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr20:52559543..52560922-chr20:52815975..52816881,12	MCF-7	breast:
2	chr20:52566447..52567172-chr3:63748625..63749461,2	MCF-7	breast:
3	chr20:52562683..52565163-chr6:10527281..10529505,2	MCF-7	breast:
4	chr20:52568956..52571954-chr20:53164781..53166681,2	MCF-7	breast:
5	chr1:218517145..218519838-chr20:52585608..52587180,2	MCF-7	breast:
6	chr20:52571088..52573644-chr20:55787288..55790114,2	MCF-7	breast:
7	chr17:59939073..59941275-chr20:52569043..52571152,2	MCF-7	breast:
8	chr17:57923947..57925959-chr20:52570541..52572581,2	MCF-7	breast:
9	chr2:114682272..114683887-chr20:52570600..52573468,2	MCF-7	breast:
10	chr20:52195014..52196203-chr20:52559962..52560949,9	MCF-7	breast:
11	chr20:52560304..52562724-chr20:52567019..52568776,2	K562	blood:
12	chr17:58145680..58147362-chr20:52554822..52556632,2	MCF-7	breast:
13	chr20:52585641..52588573-chr20:52841964..52844352,3	MCF-7	breast:
14	chr20:45825065..45825605-chr20:52556876..52557527,2	MCF-7	breast:
15	chr20:52562034..52564682-chr20:55844652..55847226,2	MCF-7	breast:
16	chr20:52195029..52195939-chr20:52561371..52562333,2	MCF-7	breast:
17	chr20:52573893..52576566-chr20:52684322..52688419,3	MCF-7	breast:
18	chr20:52573818..52574952-chr20:52679002..52679930,5	MCF-7	breast:
19	chr20:52559028..52559834-chr20:52567173..52568167,2	MCF-7	breast:
20	chr20:52576980..52579771-chr20:52581907..52583862,2	K562	blood:
21	chr19:36979934..36982567-chr20:52560633..52562262,2	MCF-7	breast:
22	chr20:52565056..52568176-chr20:55835450..55837434,3	MCF-7	breast:
23	chr20:52569573..52571763-chr20:55808708..55811189,2	MCF-7	breast:
24	chr14:102553293..102556081-chr20:52566903..52568431,2	MCF-7	breast:
25	chr17:56707619..56710170-chr20:52565363..52567557,2	MCF-7	breast:
26	chr20:52558852..52559549-chr9:123955298..123956099,2	MCF-7	breast:
27	chr20:52559960..52560536-chr20:52814702..52815370,2	MCF-7	breast:
28	chr20:52560079..52560605-chr8:43092410..43092931,2	MCF-7	breast:
29	chr20:52565107..52568649-chr20:52823684..52826196,6	MCF-7	breast:
30	chr20:52560012..52562267-chr20:55711106..55712686,2	MCF-7	breast:
31	chr20:52572049..52572593-chr9:87999913..88000433,2	MCF-7	breast:
32	chr17:59653156..59653811-chr20:52573593..52574534,2	MCF-7	breast:
33	chr17:57919574..57922169-chr20:52565236..52567154,2	MCF-7	breast:
34	chr20:52494576..52495179-chr20:52558539..52559209,2	MCF-7	breast:
35	chr20:52558981..52564129-chr20:55836783..55844481,11	MCF-7	breast:
36	chr20:52578883..52580609-chr20:52582194..52583717,2	K562	blood:
37	chr17:56708004..56710166-chr20:52580287..52582051,2	MCF-7	breast:
38	chr20:52554098..52560340-chr20:52684210..52688448,9	MCF-7	breast:
39	chr20:52573993..52574848-chr20:52673290..52674223,4	MCF-7	breast:
40	chr20:52559521..52560763-chr20:55798327..55799362,8	MCF-7	breast:
41	chr20:52563334..52564225-chr3:64097372..64098217,2	MCF-7	breast:
42	chr20:52532023..52532688-chr20:52555703..52556632,2	MCF-7	breast:
43	chr20:52561105..52561751-chr20:52678984..52679783,3	MCF-7	breast:
44	chr20:52560127..52560722-chr3:64009161..64009736,2	MCF-7	breast:
45	chr20:52554429..52556366-chr20:55834185..55835777,2	MCF-7	breast:
46	chr12:120729283..120731029-chr20:52576003..52578392,2	MCF-7	breast:
47	chr17:56735101..56737749-chr20:52575346..52577054,2	MCF-7	breast:
48	chr20:52554988..52556740-chr20:55798732..55800489,2	MCF-7	breast:
49	chr17:59938922..59941556-chr20:52559570..52562678,4	MCF-7	breast:
50	chr20:52576003..52577529-chr20:52812898..52814510,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PFDN4-1	chr20:52556699-52557137	XLOC_013571
2	lnc-PFDN4-1	chr20:52558714-52559047	XLOC_013571
3	lnc-PFDN4-3	chr20:52554774-52555874	NONHSAT080410
4	lnc-PFDN4-1	chr20:52557824-52557934	XLOC_013571

No data

Variant related genes	Relation type
ENSG00000236352	TF binding region
ENSG00000236352	CpG island
ENSG00000267137	chromatin interactions
ENSG00000168298	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000196562	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000136492	chromatin interactions
ENSG00000111846	chromatin interactions
ENSG00000232480	chromatin interactions
ENSG00000064787	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000203499	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000267309	chromatin interactions
ENSG00000265595	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000103266	chromatin interactions
ENSG00000186017	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000092969	chromatin interactions
ENSG00000236352	chromatin interactions
ENSG00000200997	chromatin interactions
ENSG00000005884	chromatin interactions
ENSG00000235415	chromatin interactions
ENSG00000047315	chromatin interactions
ENSG00000084092	chromatin interactions
ENSG00000101132	chromatin interactions
ENSG00000180891	chromatin interactions
ENSG00000124243	chromatin interactions
ENSG00000080824	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000235032	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000161999	chromatin interactions
ENSG00000202538	chromatin interactions

Extended variants
information (count: 1297 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1297 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187860318	chr20:52555898-52555899	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs556196268	chr20:52555903-52555904	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs142234945	chr20:52555910-52555911	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs560359257	chr20:52555911-52555912	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs112650009	chr20:52555916-52555917	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs532561000	chr20:52555929-52555930	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs191471756	chr20:52555930-52555931	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs151138363	chr20:52555957-52555958	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs6123328	chr20:52555977-52555978	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs548256424	chr20:52556003-52556004	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs559703251	chr20:52556019-52556020	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs886856	chr20:52556084-52556085	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs534061940	chr20:52556176-52556177	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
14	rs140054197	chr20:52556222-52556223	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
15	rs527952668	chr20:52556227-52556228	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
16	rs150302354	chr20:52556320-52556321	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
17	rs538789888	chr20:52556338-52556339	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
18	rs6068736	chr20:52556360-52556361	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
19	rs548917082	chr20:52556367-52556368	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
20	rs6064025	chr20:52556414-52556415	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
21	rs6022863	chr20:52556423-52556424	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs116708202	chr20:52556478-52556479	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
23	rs6068737	chr20:52556490-52556491	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
24	rs544478513	chr20:52556497-52556498	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
25	rs554294087	chr20:52556511-52556512	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
26	rs111959569	chr20:52556537-52556538	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
27	rs16998585	chr20:52556562-52556563	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs8117317	chr20:52556585-52556586	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
29	rs559778579	chr20:52556604-52556605	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
30	rs375726337	chr20:52556640-52556641	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
31	rs57373023	chr20:52556653-52556654	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
32	rs142108930	chr20:52556661-52556662	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
33	rs545961573	chr20:52556727-52556728	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
34	rs563214353	chr20:52556745-52556746	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
35	rs59660587	chr20:52556772-52556773	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
36	rs79038682	chr20:52556785-52556786	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
37	rs74894898	chr20:52556786-52556787	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
38	rs200936096	chr20:52556787-52556788	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
39	rs78428387	chr20:52556788-52556789	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
40	rs531947446	chr20:52556813-52556814	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
41	rs548842715	chr20:52556814-52556815	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
42	rs549547298	chr20:52556838-52556839	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
43	rs568410122	chr20:52556924-52556925	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
44	rs3185586	chr20:52556962-52556963	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs886855	chr20:52556970-52556971	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147088199	chr20:52556993-52556994	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
47	rs565552011	chr20:52556996-52556997	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
48	rs182646975	chr20:52556999-52557000	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
49	rs376535090	chr20:52557008-52557009	Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
50	rs552434349	chr20:52557009-52557010	Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:969 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52543600-52556000	Weak transcription	Aorta	Aorta
2	chr20:52549000-52558800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr20:52550000-52556800	Enhancers	Primary B cells from peripheral blood	blood
4	chr20:52550400-52557400	Enhancers	Placenta	Placenta
5	chr20:52551200-52556200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr20:52551200-52556400	Weak transcription	Psoas Muscle	Psoas
7	chr20:52551800-52556200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr20:52551800-52557000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr20:52552000-52556000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr20:52552000-52556000	Weak transcription	NH-A	brain
11	chr20:52552000-52556800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr20:52552000-52565200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr20:52552200-52556000	Weak transcription	Fetal Kidney	kidney
14	chr20:52552200-52556000	Weak transcription	Small Intestine	intestine
15	chr20:52552200-52556000	Weak transcription	Thymus	Thymus
16	chr20:52552200-52556000	Enhancers	GM12878-XiMat	blood
17	chr20:52552200-52556200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr20:52552200-52557000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr20:52552200-52565400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr20:52552400-52566000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr20:52552600-52556000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr20:52552600-52556000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr20:52552600-52556000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr20:52552600-52556000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr20:52552600-52556000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr20:52552600-52556000	Weak transcription	Fetal Muscle Leg	muscle
27	chr20:52552600-52556000	Weak transcription	Left Ventricle	heart
28	chr20:52552600-52556000	Weak transcription	Lung	lung
29	chr20:52552600-52556000	Weak transcription	HUVEC	blood vessel
30	chr20:52552600-52556200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr20:52552600-52556200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr20:52552600-52556200	Weak transcription	Fetal Thymus	thymus
33	chr20:52552600-52556400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr20:52552600-52556400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr20:52552600-52557400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr20:52552600-52557800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr20:52552600-52564400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr20:52552800-52556000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr20:52552800-52556600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr20:52552800-52560200	Weak transcription	Primary T cells from cord blood	blood
41	chr20:52552800-52560200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr20:52553000-52556200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr20:52553000-52556400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr20:52553600-52556000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr20:52553800-52556000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr20:52553800-52556000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr20:52553800-52556400	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr20:52553800-52558600	Enhancers	HepG2	liver
49	chr20:52554000-52556000	Weak transcription	Ovary	ovary
50	chr20:52554000-52557000	Weak transcription	Fetal Stomach	stomach

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