Variant report

Variant	nsv1060552
Chromosome Location	chr20:53234716-53655115
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2274)
CpG islands
(count:61)
Chromatin interactive
region (count:613)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2274 , 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	chr20:53285229-53285418	HepG2	liver:	n/a	n/a
2	ARID3A	chr20:53266042-53266377	HepG2	liver:	n/a	n/a
3	ARID3A	chr20:53263433-53263656	K562	blood:	n/a	n/a
4	ATF2	chr20:53282346-53282739	GM12878	blood:	n/a	n/a
5	ATF2	chr20:53250327-53250881	GM12878	blood:	n/a	n/a
6	BACH1	chr20:53390992-53391376	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr20:53389155-53389194	K562	blood:	n/a	n/a
8	BACH1	chr20:53362373-53362692	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr20:53250383-53250733	GM12878	blood:	n/a	n/a
10	BATF	chr20:53278427-53278669	GM12878	blood:	n/a	n/a
11	BATF	chr20:53249891-53250215	GM12878	blood:	n/a	n/a
12	BATF	chr20:53282318-53282726	GM12878	blood:	n/a	chr20:53282450-53282458 chr20:53282540-53282551
13	BATF	chr20:53249776-53250220	GM12878	blood:	n/a	n/a
14	BCL11A	chr20:53250419-53250782	GM12878	blood:	n/a	n/a
15	BCL11A	chr20:53250441-53250837	GM12878	blood:	n/a	n/a
16	BCL11A	chr20:53282282-53282641	GM12878	blood:	n/a	n/a
17	BCL11A	chr20:53600254-53600554	GM12878	blood:	n/a	n/a
18	BHLHE40	chr20:53612302-53612352	GM12878	blood:	n/a	n/a
19	BHLHE40	chr20:53600200-53600670	GM12878	blood:	n/a	n/a
20	BHLHE40	chr20:53263408-53263798	HepG2	liver:	n/a	n/a
21	BHLHE40	chr20:53308834-53308988	HepG2	liver:	n/a	n/a
22	BHLHE40	chr20:53250427-53250904	GM12878	blood:	n/a	n/a
23	BHLHE40	chr20:53265995-53266325	HepG2	liver:	n/a	n/a
24	BHLHE40	chr20:53263438-53263831	K562	blood:	n/a	n/a
25	BHLHE40	chr20:53263400-53263784	GM12878	blood:	n/a	n/a
26	BRCA1	chr20:53626795-53626807	HepG2	liver:	n/a	n/a
27	BRCA1	chr20:53285230-53285335	HepG2	liver:	n/a	n/a
28	BRCA1	chr20:53444927-53444966	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr20:53480814-53481010	HepG2	liver:	n/a	n/a
30	CEBPB	chr20:53266060-53266353	K562	blood:	n/a	n/a
31	CEBPB	chr20:53323830-53324008	HepG2	liver:	n/a	n/a
32	CEBPB	chr20:53490291-53490957	MCF-7	breast:	n/a	n/a
33	CEBPB	chr20:53569812-53570006	HepG2	liver:	n/a	chr20:53569919-53569930
34	CEBPB	chr20:53284121-53284447	HepG2	liver:	n/a	n/a
35	CEBPB	chr20:53258530-53258603	HepG2	liver:	n/a	n/a
36	CEBPB	chr20:53594013-53594153	HepG2	liver:	n/a	n/a
37	CEBPB	chr20:53490407-53490734	HepG2	liver:	n/a	n/a
38	CEBPB	chr20:53635138-53635433	IMR90	lung:	n/a	chr20:53635293-53635304
39	CEBPB	chr20:53475413-53475670	IMR90	lung:	n/a	chr20:53475550-53475561
40	CEBPB	chr20:53266060-53266392	HepG2	liver:	n/a	n/a
41	CEBPB	chr20:53357772-53358044	HepG2	liver:	n/a	chr20:53357898-53357909 chr20:53357898-53357911 chr20:53357900-53357911 chr20:53357900-53357909
42	CEBPB	chr20:53495802-53496162	HepG2	liver:	n/a	chr20:53495978-53495989 chr20:53495976-53495989 chr20:53495976-53495989 chr20:53495976-53495987 chr20:53495976-53495989
43	CEBPB	chr20:53514127-53514411	HepG2	liver:	n/a	n/a
44	CEBPB	chr20:53478006-53478267	HepG2	liver:	n/a	chr20:53478140-53478151
45	CEBPB	chr20:53266006-53266394	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr20:53299471-53299615	HepG2	liver:	n/a	chr20:53299528-53299541 chr20:53299528-53299539 chr20:53299530-53299541
47	CEBPB	chr20:53357902-53357950	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPB	chr20:53635138-53635469	HepG2	liver:	n/a	chr20:53635293-53635304
49	CEBPB	chr20:53362738-53363078	HepG2	liver:	n/a	chr20:53362916-53362927
50	CEBPB	chr20:53495824-53496161	IMR90	lung:	n/a	chr20:53495978-53495989 chr20:53495976-53495989 chr20:53495976-53495989 chr20:53495976-53495987 chr20:53495976-53495989

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:53267575-53267625	U87	brain:	n/a
2	chr20:53267575-53267625	HNPCEpiC	eye:	n/a
3	chr20:53267575-53267625	HCT-116	colon:	n/a
4	chr20:53267575-53267625	PANC-1	pancreas:	n/a
5	chr20:53267575-53267625	PFSK-1	brain:	n/a
6	chr20:53267575-53267625	Hepatocyte	liver:	n/a
7	chr20:53267575-53267625	HUVEC	blood vessel:	n/a
8	chr20:53267575-53267625	AG09309	skin:	n/a
9	chr20:53267575-53267625	HPAEpiC	pulmonary alveolar:	n/a
10	chr20:53267575-53267625	NT2-D1	testis:	n/a
11	chr20:53267575-53267625	SKMC	muscle:	n/a
12	chr20:53267575-53267625	T-47D	breast:	n/a
13	chr20:53267575-53267625	HIPEpiC	eye:	n/a
14	chr20:53267575-53267625	BE2_C	brain:	n/a
15	chr20:53267575-53267625	SK-N-MC	brain:	n/a
16	chr20:53267575-53267625	HRCEpiC	kidney:	n/a
17	chr20:53267575-53267625	NH-A	brain:	n/a
18	chr20:53267575-53267625	GM12892	blood:	n/a
19	chr20:53267575-53267625	HRPEpiC	eye:	n/a
20	chr20:53267575-53267625	HCM	heart:	n/a
21	chr20:53267575-53267625	CMK	blood:	n/a
22	chr20:53267575-53267625	HepG2	liver:	n/a
23	chr20:53267575-53267625	HEEpiC	esophagus:	n/a
24	chr20:53267575-53267625	Jurkat	blood:	n/a
25	chr20:53267575-53267625	ECC-1	luminal epithelium:	n/a
26	chr20:53267575-53267625	HCPEpiC	choroid plexus:	n/a
27	chr20:53267575-53267625	MCF-7	breast:	n/a
28	chr20:53267575-53267625	PrEC	prostate:	n/a
29	chr20:53267575-53267625	GM12891	blood:	n/a
30	chr20:53267575-53267625	AG04450	lung:	fetal
31	chr20:53267575-53267625	SK-N-SH_RA	brain:	n/a
32	chr20:53267575-53267625	AG10803	skin:	n/a
33	chr20:53267575-53267625	Hela-S3	cervix:	n/a
34	chr20:53267575-53267625	ProgFib	skin:	n/a
35	chr20:53267575-53267625	K562	blood:	n/a
36	chr20:53267575-53267625	SK-N-SH	brain:	n/a
37	chr20:53267575-53267625	NB4	blood:	n/a
38	chr20:53267575-53267625	GM19239	blood:	n/a
39	chr20:53267575-53267625	MCF10A-Er-Src	breast:	n/a
40	chr20:53267575-53267625	H1-hESC	embryonic stem cell:	embryo
41	chr20:53267575-53267625	AG04449	skin:	fetal
42	chr20:53267575-53267625	Caco-2	colon:	n/a
43	chr20:53267575-53267625	HL-60	blood:	n/a
44	chr20:53267575-53267625	NHBE	bronchial:	n/a
45	chr20:53267575-53267625	AG09319	gingival:	n/a
46	chr20:53267575-53267625	NHDF-neo	bronchial:	n/a
47	chr20:53267575-53267625	GM06990	blood:	n/a
48	chr20:53267575-53267625	HRE	kidney:	n/a
49	chr20:53267575-53267625	LNCaP	prostate:	n/a
50	chr20:53267575-53267625	ovcar-3	ovarian:	n/a

(count:613 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Distal block	Cell Line	Cell type
1	chr20:53421068..53421889-chr20:53508493..53509173,2	MCF-7	breast:
2	chr20:53296551..53298207-chr20:53342710..53343895,13	MCF-7	breast:
3	chr20:53469608..53471175-chr20:53474621..53476655,2	MCF-7	breast:
4	chr20:53327023..53327572-chr20:53337636..53338159,2	MCF-7	breast:
5	chr20:53596599..53597549-chr20:54756410..54757311,4	MCF-7	breast:
6	chr17:59939806..59941342-chr20:53462560..53465065,2	MCF-7	breast:
7	chr20:53305624..53307221-chr20:53307239..53309787,2	MCF-7	breast:
8	chr20:47521695..47522213-chr20:53263102..53263773,2	MCF-7	breast:
9	chr20:53229800..53233428-chr20:53242430..53245775,3	MCF-7	breast:
10	chr20:53502716..53505426-chr20:53509353..53511541,3	MCF-7	breast:
11	chr17:59648813..59649546-chr20:53544658..53545268,2	MCF-7	breast:
12	chr17:56707799..56709704-chr20:53250270..53252481,2	MCF-7	breast:
13	chr20:53239460..53242242-chr20:53249088..53250613,2	MCF-7	breast:
14	chr20:52852339..52854018-chr20:53262598..53264931,2	MCF-7	breast:
15	chr1:150951796..150952519-chr20:53263209..53263715,2	MCF-7	breast:
16	chr1:109692092..109694035-chr20:53309033..53311303,2	MCF-7	breast:
17	chr20:52812210..52813082-chr20:53265676..53266276,2	MCF-7	breast:
18	chr20:52719607..52720196-chr20:53263139..53264090,2	K562	blood:
19	chr20:53297264..53297860-chr20:53322089..53322721,2	MCF-7	breast:
20	chr20:52679438..52680357-chr20:53433878..53434462,2	MCF-7	breast:
21	chr20:53283290..53284914-chr3:64513834..64516578,2	MCF-7	breast:
22	chr20:53433876..53434707-chr3:64703627..64704149,2	MCF-7	breast:
23	chr20:52840058..52843007-chr20:53284448..53286480,2	MCF-7	breast:
24	chr20:53528909..53530872-chr20:53533679..53535897,2	MCF-7	breast:
25	chr20:53487853..53490611-chr20:53501403..53504058,2	MCF-7	breast:
26	chr20:52711973..52715362-chr20:53262880..53265739,4	MCF-7	breast:
27	chr20:53465234..53466924-chr20:53468831..53471072,3	MCF-7	breast:
28	chr20:53538982..53541725-chr20:53555678..53557256,2	MCF-7	breast:
29	chr17:56734864..56737981-chr20:53266638..53268279,3	MCF-7	breast:
30	chr20:53267329..53270165-chr20:53282445..53284109,2	MCF-7	breast:
31	chr20:53326475..53327028-chr20:53343245..53344069,2	MCF-7	breast:
32	chr20:53287233..53287980-chr20:53296972..53297626,2	MCF-7	breast:
33	chr20:53073207..53074105-chr20:53262668..53263905,3	MCF-7	breast:
34	chr20:53337604..53339390-chr20:53341221..53343407,2	MCF-7	breast:
35	chr20:52852335..52854423-chr20:53245467..53248244,2	MCF-7	breast:
36	chr20:53334316..53336914-chr6:88181967..88183814,2	MCF-7	breast:
37	chr20:53392950..53395782-chr3:73159953..73161543,2	MCF-7	breast:
38	chr20:53446437..53449220-chr20:53453881..53456288,2	MCF-7	breast:
39	chr20:53426751..53427257-chr20:53479843..53480812,2	MCF-7	breast:
40	chr1:116385508..116386069-chr20:53333945..53334581,2	MCF-7	breast:
41	chr20:53344453..53347418-chr20:53540200..53542440,2	MCF-7	breast:
42	chr20:52720086..52722033-chr20:53263584..53267279,3	MCF-7	breast:
43	chr20:52684308..52686791-chr20:53262542..53265361,3	MCF-7	breast:
44	chr17:56735402..56737734-chr20:53294537..53297494,2	MCF-7	breast:
45	chr20:53410492..53411348-chrX:69233025..69233547,2	MCF-7	breast:
46	chr20:53300267..53303161-chr20:53305385..53308089,2	MCF-7	breast:
47	chr20:53297039..53297648-chr3:64543662..64544449,2	MCF-7	breast:
48	chr20:53297264..53297860-chr20:53322089..53322721,2	MCF-7	breast:
49	chr20:53533974..53538629-chr20:53538672..53542933,6	MCF-7	breast:
50	chr20:53524084..53526221-chr20:53527180..53529602,2	MCF-7	breast:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DOK5-2	chr20:53501484-53501794	NONHSAT080422
2	lnc-DOK5-2	chr20:53472998-53473191	l_2141_chr20:53472997-53476730_testes
3	lnc-DOK5-2	chr20:53498810-53498914	NONHSAT080422
4	lnc-DOK5-2	chr20:53473010-53473191	NONHSAT080423
5	lnc-DOK5-2	chr20:53475816-53476015	NONHSAT080423
6	lnc-DOK5-2	chr20:53475816-53476015	NONHSAT080422
7	lnc-DOK5-2	chr20:53476505-53476958	l_2141_chr20:53472997-53476730_testes
8	lnc-CYP24A1-2	chr20:53473422-53473555	NONHSAT080421
9	lnc-DOK5-2	chr20:53475812-53476015	l_2141_chr20:53472997-53476730_testes
10	lnc-DOK5-2	chr20:53472988-53473191	NONHSAT080422
11	lnc-DOK5-2	chr20:53502282-53502378	NONHSAT080422
12	lnc-DOK5-2	chr20:53488074-53488248	NONHSAT080422
13	lnc-DOK5-2	chr20:53476505-53476735	NONHSAT080423
14	lnc-DOK5-2	chr20:53518036-53518159	NONHSAT080422
15	lnc-CYP24A1-2	chr20:53477014-53477142	NONHSAT080421
16	lnc-CYP24A1-2	chr20:53470281-53472307	NONHSAT080421
17	lnc-DOK5-2	chr20:53516762-53516885	NONHSAT080422

No data

Variant related genes	Relation type
RNU4ATAC7P	TF binding region
RNU4ATAC7P	CpG island
ENSG00000164961	chromatin interactions
ENSG00000169242	chromatin interactions
ENSG00000156831	chromatin interactions
ENSG00000265595	chromatin interactions
ENSG00000108106	chromatin interactions
ENSG00000196562	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000221995	chromatin interactions
ENSG00000101132	chromatin interactions
ENSG00000115844	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000255438	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000264063	chromatin interactions
ENSG00000252089	chromatin interactions
ENSG00000271982	chromatin interactions
ENSG00000156471	chromatin interactions
ENSG00000236352	chromatin interactions
ENSG00000128534	chromatin interactions
ENSG00000255568	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000164414	chromatin interactions
ENSG00000156469	chromatin interactions
ENSG00000124243	chromatin interactions
ENSG00000265681	chromatin interactions
ENSG00000101134	chromatin interactions
ENSG00000064787	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000253128	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000180694	chromatin interactions
ENSG00000163638	chromatin interactions
ENSG00000136492	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000144579	chromatin interactions
ENSG00000246792	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000196924	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000094631	chromatin interactions
ENSG00000171634	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000100227	chromatin interactions
ENSG00000019186	chromatin interactions
ENSG00000254024	chromatin interactions
ENSG00000088205	chromatin interactions
ENSG00000069849	chromatin interactions
ENSG00000251184	chromatin interactions
ENSG00000083307	chromatin interactions
ENSG00000238141	chromatin interactions
ENSG00000206602	chromatin interactions

Extended variants
information (count: 9971 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:9971 , 50 per page) page: 1 2 3 4 5 6 7 ... 200

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565678985	chr20:53234716-53234717	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567597856	chr20:53234739-53234740	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34232628	chr20:53234889-53234890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79846492	chr20:53234891-53234892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs397864449	chr20:53234900-53234901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74626609	chr20:53234901-53234902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145759062	chr20:53234945-53234946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148942725	chr20:53234976-53234977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576385996	chr20:53234985-53234986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4581960	chr20:53235008-53235009	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs557156541	chr20:53235041-53235042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78661647	chr20:53235048-53235049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112821796	chr20:53235072-53235073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188450762	chr20:53235073-53235074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367845932	chr20:53235084-53235085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559024719	chr20:53235117-53235118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374247529	chr20:53235121-53235122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193216254	chr20:53235240-53235241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs137994090	chr20:53235251-53235252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6068917	chr20:53235277-53235278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541255192	chr20:53235290-53235291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571101192	chr20:53235324-53235325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529602161	chr20:53235338-53235339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116435520	chr20:53235370-53235371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111923948	chr20:53235374-53235375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115803135	chr20:53235382-53235383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2904385	chr20:53235387-53235388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs59023490	chr20:53235402-53235403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6014085	chr20:53235403-53235404	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs561137332	chr20:53235485-53235486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574841596	chr20:53235546-53235547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201182837	chr20:53235561-53235562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs72338710	chr20:53235562-53235563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs202246268	chr20:53235564-53235565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs386394045	chr20:53235572-53235573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs58380468	chr20:53235596-53235597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs71836272	chr20:53235603-53235604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11468808	chr20:53235608-53235609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs71196459	chr20:53235613-53235614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142592920	chr20:53235652-53235653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542709646	chr20:53235692-53235693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191399200	chr20:53235694-53235695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563790229	chr20:53235727-53235728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183935652	chr20:53235741-53235742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4996783	chr20:53235811-53235812	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs550994510	chr20:53235911-53235912	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs570886235	chr20:53235918-53235919	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs551063456	chr20:53235968-53235969	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs531126892	chr20:53235975-53235976	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs550954841	chr20:53235983-53235984	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Melanoma	17363583	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:729 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53204600-53240600	Weak transcription	Left Ventricle	heart
2	chr20:53215200-53236400	Weak transcription	Aorta	Aorta
3	chr20:53217000-53235800	Weak transcription	Brain Germinal Matrix	brain
4	chr20:53217400-53240600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr20:53221600-53239000	Weak transcription	Osteobl	bone
6	chr20:53227400-53235600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr20:53227600-53235000	Weak transcription	Fetal Brain Male	brain
8	chr20:53227800-53239000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr20:53229000-53235800	Weak transcription	Fetal Lung	lung
10	chr20:53229200-53240600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr20:53231400-53236000	Weak transcription	Fetal Brain Female	brain
12	chr20:53233200-53237800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr20:53234000-53234800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr20:53234200-53235200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr20:53234600-53236200	Enhancers	Fetal Muscle Leg	muscle
16	chr20:53234800-53235200	Enhancers	Psoas Muscle	Psoas
17	chr20:53234800-53238200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr20:53235000-53236200	Enhancers	Fetal Muscle Trunk	muscle
19	chr20:53235000-53241600	Enhancers	Fetal Brain Male	brain
20	chr20:53235200-53235800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr20:53235200-53236000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr20:53235200-53250400	Weak transcription	Psoas Muscle	Psoas
23	chr20:53235600-53235800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr20:53235600-53236400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr20:53235800-53236000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr20:53235800-53236000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr20:53235800-53236000	Enhancers	Pancreas	Pancrea
28	chr20:53235800-53236000	Enhancers	Hela-S3	cervix
29	chr20:53235800-53236200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr20:53235800-53236200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr20:53235800-53236200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr20:53235800-53236200	Enhancers	Brain Cingulate Gyrus	brain
33	chr20:53235800-53236200	Enhancers	Brain Germinal Matrix	brain
34	chr20:53235800-53236200	Enhancers	Fetal Lung	lung
35	chr20:53235800-53236200	Enhancers	Right Atrium	heart
36	chr20:53235800-53236200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr20:53235800-53236600	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr20:53235800-53236600	Enhancers	HSMMtube	muscle
39	chr20:53236000-53236200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr20:53236000-53236200	Bivalent Enhancer	Hela-S3	cervix
41	chr20:53236000-53236600	Enhancers	Brain Anterior Caudate	brain
42	chr20:53236000-53236600	Enhancers	Fetal Heart	heart
43	chr20:53236000-53238000	Enhancers	Fetal Brain Female	brain
44	chr20:53236000-53238800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr20:53236000-53241800	Weak transcription	Pancreas	Pancrea
46	chr20:53236200-53236600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr20:53236200-53238400	Weak transcription	Brain Germinal Matrix	brain
48	chr20:53236200-53238400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr20:53236200-53238400	Weak transcription	Fetal Muscle Leg	muscle
50	chr20:53236200-53238600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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