Variant report

Variant	nsv882842
Chromosome Location	chr5:128301971-128552706
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2526)
CpG islands
(count:1098)
Chromatin interactive
region (count:159)
LncRNA
region (count:2)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:2526 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:128417730-128419210	K562	blood:	n/a	n/a
2	ARID3A	chr5:128437572-128437824	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:128430810-128431105	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:128409288-128409814	K562	blood:	n/a	n/a
5	ARID3A	chr5:128434326-128434720	K562	blood:	n/a	n/a
6	ARID3A	chr5:128462410-128462655	HepG2	liver:	n/a	n/a
7	ARID3A	chr5:128365722-128365760	K562	blood:	n/a	n/a
8	ARID3A	chr5:128430945-128431135	K562	blood:	n/a	n/a
9	ARID3A	chr5:128419602-128419698	K562	blood:	n/a	n/a
10	ARID3A	chr5:128410691-128410815	K562	blood:	n/a	n/a
11	ARID3A	chr5:128429860-128430427	HepG2	liver:	n/a	n/a
12	ARID3A	chr5:128432166-128432721	K562	blood:	n/a	n/a
13	ARID3A	chr5:128430146-128430369	K562	blood:	n/a	n/a
14	ARID3A	chr5:128354593-128355004	K562	blood:	n/a	n/a
15	ARID3A	chr5:128439331-128439368	K562	blood:	n/a	n/a
16	ATF1	chr5:128410619-128410876	K562	blood:	n/a	n/a
17	ATF1	chr5:128387115-128387315	K562	blood:	n/a	n/a
18	ATF1	chr5:128458434-128458583	K562	blood:	n/a	n/a
19	ATF1	chr5:128417960-128418781	K562	blood:	n/a	n/a
20	ATF1	chr5:128399520-128399851	K562	blood:	n/a	n/a
21	ATF1	chr5:128354631-128354921	K562	blood:	n/a	n/a
22	ATF1	chr5:128414202-128414744	K562	blood:	n/a	n/a
23	ATF1	chr5:128539048-128539092	K562	blood:	n/a	n/a
24	ATF3	chr5:128414346-128414733	K562	blood:	n/a	n/a
25	BACH1	chr5:128430057-128431207	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr5:128409424-128409483	K562	blood:	n/a	n/a
27	BACH1	chr5:128426181-128426193	K562	blood:	n/a	n/a
28	BACH1	chr5:128380645-128380692	K562	blood:	n/a	n/a
29	BACH1	chr5:128302295-128302396	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr5:128440730-128440910	K562	blood:	n/a	n/a
31	BACH1	chr5:128440593-128440880	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr5:128441766-128441769	K562	blood:	n/a	n/a
33	BATF	chr5:128455752-128456029	GM12878	blood:	n/a	n/a
34	BATF	chr5:128455684-128456273	GM12878	blood:	n/a	n/a
35	BCL11A	chr5:128430889-128431160	GM12878	blood:	n/a	n/a
36	BCL11A	chr5:128410492-128410820	GM12878	blood:	n/a	chr5:128410749-128410758
37	BCL3	chr5:128430739-128431229	GM12878	blood:	n/a	chr5:128431162-128431171
38	BCL3	chr5:128430426-128431258	A549	lung:	n/a	chr5:128431162-128431171
39	BCL3	chr5:128429714-128430117	A549	lung:	n/a	n/a
40	BCLAF1	chr5:128429983-128430701	GM12878	blood:	n/a	chr5:128430287-128430300 chr5:128430222-128430235 chr5:128430398-128430411
41	BCLAF1	chr5:128429846-128430852	GM12878	blood:	n/a	chr5:128430287-128430300 chr5:128430222-128430235 chr5:128430398-128430411
42	BHLHE40	chr5:128465789-128465856	A549	lung:	n/a	n/a
43	BHLHE40	chr5:128429793-128431232	K562	blood:	n/a	chr5:128430403-128430419 chr5:128430395-128430411
44	BHLHE40	chr5:128429897-128431132	HepG2	liver:	n/a	chr5:128430403-128430419 chr5:128430395-128430411
45	BHLHE40	chr5:128419554-128419803	K562	blood:	n/a	n/a
46	BHLHE40	chr5:128418003-128418806	K562	blood:	n/a	n/a
47	BHLHE40	chr5:128429985-128431274	GM12878	blood:	n/a	chr5:128430403-128430419 chr5:128430395-128430411
48	BHLHE40	chr5:128450383-128450407	A549	lung:	n/a	n/a
49	BHLHE40	chr5:128409215-128409433	K562	blood:	n/a	n/a
50	BRCA1	chr5:128430495-128431065	HepG2	liver:	n/a	n/a

(count:1098 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:128430255-128430305	BE2_C	brain:	n/a
2	chr5:128337585-128337635	HCT-116	colon:	n/a
3	chr5:128320387-128320437	GM12892	blood:	n/a
4	chr5:128429156-128429206	HCPEpiC	choroid plexus:	n/a
5	chr5:128430241-128430291	HCM	heart:	n/a
6	chr5:128320387-128320437	GM12878	blood:	n/a
7	chr5:128430983-128431033	HAEpiC	amniotic membrane:	n/a
8	chr5:128430255-128430305	NHBE	bronchial:	n/a
9	chr5:128302248-128302298	Jurkat	blood:	n/a
10	chr5:128433455-128433505	HMEC	breast:	n/a
11	chr5:128452311-128452361	ovcar-3	ovarian:	n/a
12	chr5:128448807-128448857	ovcar-3	ovarian:	n/a
13	chr5:128430241-128430291	AG04450	lung:	fetal
14	chr5:128430169-128430219	HepG2	liver:	n/a
15	chr5:128430169-128430219	Hepatocyte	liver:	n/a
16	chr5:128430255-128430305	AG04449	skin:	fetal
17	chr5:128430169-128430219	BJ	skin:	n/a
18	chr5:128429903-128429953	HMEC	breast:	n/a
19	chr5:128431096-128431146	HCM	heart:	n/a
20	chr5:128430093-128430143	HRCEpiC	kidney:	n/a
21	chr5:128430259-128430309	HRE	kidney:	n/a
22	chr5:128337585-128337635	MCF10A-Er-Src	breast:	n/a
23	chr5:128430663-128430713	U87	brain:	n/a
24	chr5:128430663-128430713	GM19239	blood:	n/a
25	chr5:128430255-128430305	BJ	skin:	n/a
26	chr5:128430241-128430291	HL-60	blood:	n/a
27	chr5:128337585-128337635	HNPCEpiC	eye:	n/a
28	chr5:128337585-128337635	PFSK-1	brain:	n/a
29	chr5:128431061-128431111	MCF10A-Er-Src	breast:	n/a
30	chr5:128452311-128452361	GM12878	blood:	n/a
31	chr5:128433455-128433505	MCF-7	breast:	n/a
32	chr5:128430169-128430219	SKMC	muscle:	n/a
33	chr5:128448807-128448857	AoSMC	blood vessel:	n/a
34	chr5:128430259-128430309	HRCEpiC	kidney:	n/a
35	chr5:128429903-128429953	HIPEpiC	eye:	n/a
36	chr5:128430255-128430305	T-47D	breast:	n/a
37	chr5:128430259-128430309	PANC-1	pancreas:	n/a
38	chr5:128448807-128448857	HMEC	breast:	n/a
39	chr5:128303903-128303953	ovcar-3	ovarian:	n/a
40	chr5:128430983-128431033	HL-60	blood:	n/a
41	chr5:128452311-128452361	HepG2	liver:	n/a
42	chr5:128448807-128448857	Caco-2	colon:	n/a
43	chr5:128430255-128430305	GM19239	blood:	n/a
44	chr5:128430255-128430305	SK-N-MC	brain:	n/a
45	chr5:128303903-128303953	GM19239	blood:	n/a
46	chr5:128430093-128430143	HL-60	blood:	n/a
47	chr5:128448807-128448857	AG09309	skin:	n/a
48	chr5:128303903-128303953	NT2-D1	testis:	n/a
49	chr5:128431061-128431111	HPAEpiC	pulmonary alveolar:	n/a
50	chr5:128430169-128430219	HUVEC	blood vessel:	n/a

(count:159 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr5:128429310..128432556-chr5:128440701..128444260,6	MCF-7	breast:
2	chr5:128404714..128406266-chr5:128419188..128421176,2	MCF-7	breast:
3	chr2:27804565..27805161-chr5:128429874..128430374,2	NB4	blood:
4	chr5:128309200..128312027-chr5:128312366..128314966,3	K562	blood:
5	chr5:128501908..128504511-chr5:128797973..128800671,2	MCF-7	breast:
6	chr5:128373872..128376064-chr5:128416925..128419708,2	K562	blood:
7	chr5:128241389..128241984-chr5:128470334..128471103,2	MCF-7	breast:
8	chr5:128438691..128440626-chr5:128444757..128447692,2	K562	blood:
9	chr5:128446074..128449776-chr5:128450937..128454358,4	K562	blood:
10	chr5:128299750..128303179-chr5:128428591..128431385,3	MCF-7	breast:
11	chr5:128463517..128466232-chr5:128467484..128470221,2	MCF-7	breast:
12	chr5:128372433..128375040-chr5:128377244..128379501,2	K562	blood:
13	chr5:128475005..128477113-chr5:128505141..128506795,2	MCF-7	breast:
14	chr5:128513155..128513936-chr5:128690914..128691572,4	MCF-7	breast:
15	chr5:128430725..128432817-chr5:128449870..128452474,3	K562	blood:
16	chr5:128451572..128454294-chr5:128458058..128461292,3	K562	blood:
17	chr5:128433949..128434874-chr5:128513202..128513912,2	MCF-7	breast:
18	chr5:128514742..128517177-chr5:128522195..128524803,2	MCF-7	breast:
19	chr5:128475005..128477113-chr5:128505141..128506795,2	MCF-7	breast:
20	chr5:128241322..128241829-chr5:128430596..128431143,2	MCF-7	breast:
21	chr5:128407857..128410588-chr5:128417931..128419586,2	K562	blood:
22	chr5:128362321..128365288-chr5:128368258..128370064,2	K562	blood:
23	chr5:128464646..128465365-chr5:128512968..128513960,3	MCF-7	breast:
24	chr5:128240890..128241833-chr5:128471115..128471772,2	MCF-7	breast:
25	chr5:128470876..128472594-chr5:128472847..128476147,3	K562	blood:
26	chr5:128507699..128508883-chr5:129103268..129104196,8	MCF-7	breast:
27	chr5:128429168..128432125-chr5:128436653..128441500,7	MCF-7	breast:
28	chr5:128464646..128465258-chr5:128513053..128513960,2	MCF-7	breast:
29	chr5:128512367..128515269-chr5:128795837..128799200,3	MCF-7	breast:
30	chr5:128453538..128456511-chr5:128465200..128466831,2	MCF-7	breast:
31	chr5:128289643..128291319-chr5:128306001..128308500,2	K562	blood:
32	chr5:128407922..128411228-chr5:128426698..128431846,6	MCF-7	breast:
33	chr5:128405381..128408939-chr5:128411989..128414861,3	K562	blood:
34	chr5:128372433..128375040-chr5:128377244..128379501,2	K562	blood:
35	chr5:60627981..60628508-chr5:128430013..128430866,2	HCT-116	colon:
36	chr5:128437573..128439694-chr5:128442037..128444712,2	MCF-7	breast:
37	chr5:128429580..128432261-chr5:128453645..128456486,2	MCF-7	breast:
38	chr5:128433582..128436325-chr5:128460643..128463570,2	MCF-7	breast:
39	chr5:128373872..128376064-chr5:128416925..128419708,2	K562	blood:
40	chr5:128463517..128466232-chr5:128467484..128470221,2	MCF-7	breast:
41	chr5:128430025..128430550-chr6:111408327..111408827,2	HCT-116	colon:
42	chr5:128429052..128430822-chr5:128440263..128442695,2	K562	blood:
43	chr5:128430956..128433116-chr5:128435843..128437863,3	MCF-7	breast:
44	chr5:128422228..128425056-chr5:128428398..128430336,2	K562	blood:
45	chr5:128421308..128428287-chr5:128428713..128431869,7	MCF-7	breast:
46	chr16:67260767..67261329-chr5:128430498..128431009,2	Hela-S3	cervix:
47	chr20:48907747..48910180-chr5:128428330..128430095,2	MCF-7	breast:
48	chr5:128429088..128431633-chr5:128448995..128451106,2	MCF-7	breast:
49	chr5:128465342..128468762-chr5:128469203..128471352,3	K562	blood:
50	chr5:128464646..128465365-chr5:128512968..128513960,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ISOC1-2	chr5:128419938-128420050	NONHSAT103665
2	lnc-ISOC1-2	chr5:128422957-128423875	NONHSAT103665

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4633-3p	chr5:128433430-128433451	MIMAT0019690
hsa-miR-4633-5p	chr5:128433395-128433414	MIMAT0019689

No data

Variant related genes	Relation type
MIR4633	TF binding region
ISOC1	TF binding region
MIR4633	CpG island
ISOC1	CpG island
ENSG00000066583	chromatin interactions
ENSG00000125122	chromatin interactions
ENSG00000237102	chromatin interactions
ENSG00000264563	chromatin interactions
ENSG00000203999	chromatin interactions
ENSG00000112394	chromatin interactions
ENSG00000247970	chromatin interactions
ENSG00000168701	chromatin interactions
ENSG00000249421	chromatin interactions
ENSG00000108395	chromatin interactions
ENSG00000145808	chromatin interactions
ENSG00000224738	chromatin interactions
ENSG00000113396	chromatin interactions
ENSG00000130449	chromatin interactions
ENSG00000221531	chromatin interactions
ENSG00000205476	chromatin interactions

Extended variants
information (count: 8224 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:8224 , 50 per page) page: 1 2 3 4 5 6 7 ... 165

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2577541	chr5:128301971-128301972	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369424070	chr5:128301974-128301975	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs267600337	chr5:128301977-128301978	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs145745231	chr5:128301979-128301980	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs201710857	chr5:128301995-128301996	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372804742	chr5:128302001-128302002	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375712222	chr5:128302006-128302007	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551666493	chr5:128302022-128302023	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs544670127	chr5:128302051-128302052	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs148864919	chr5:128302057-128302058	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200731740	chr5:128302059-128302060	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs148229667	chr5:128302069-128302070	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544417108	chr5:128302081-128302082	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs141200071	chr5:128302088-128302089	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs368801040	chr5:128302101-128302102	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs376879906	chr5:128302146-128302147	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs371452698	chr5:128302151-128302152	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs76331109	chr5:128302155-128302156	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138008342	chr5:128302162-128302163	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs201460735	chr5:128302174-128302175	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs142676290	chr5:128302185-128302186	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs146020710	chr5:128302207-128302208	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs140036324	chr5:128302223-128302224	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs377323580	chr5:128302224-128302225	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs141984077	chr5:128302267-128302268	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs199924682	chr5:128302273-128302274	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201843047	chr5:128302274-128302275	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs552585653	chr5:128302283-128302284	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs144670577	chr5:128302288-128302289	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs538309779	chr5:128302295-128302296	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201206690	chr5:128302325-128302326	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs534368310	chr5:128302362-128302363	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs200235929	chr5:128302367-128302368	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs147696009	chr5:128302369-128302370	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs112964842	chr5:128302378-128302379	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs113407086	chr5:128302379-128302380	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs549365345	chr5:128302438-128302439	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs557204186	chr5:128302447-128302448	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs567409569	chr5:128302457-128302458	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs188611639	chr5:128302463-128302464	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs553273855	chr5:128302564-128302565	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs77699344	chr5:128302603-128302604	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs2577542	chr5:128302636-128302637	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs558095397	chr5:128302641-128302642	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs148045212	chr5:128302669-128302670	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs528472370	chr5:128302687-128302688	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543856347	chr5:128302696-128302697	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs2577543	chr5:128302700-128302701	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs575015161	chr5:128302723-128302724	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs201312767	chr5:128302727-128302728	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1500 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128300400-128302000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr5:128300400-128302000	Active TSS	K562	blood
3	chr5:128300400-128302200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr5:128300400-128302200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr5:128300400-128302200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr5:128300400-128302200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr5:128300600-128302000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:128300600-128302000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr5:128300600-128302000	Active TSS	Thymus	Thymus
10	chr5:128300600-128302200	Active TSS	Placenta Amnion	Placenta Amnion
11	chr5:128300600-128302400	Active TSS	Ovary	ovary
12	chr5:128300600-128303000	Active TSS	Left Ventricle	heart
13	chr5:128300600-128303200	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr5:128300600-128303200	Active TSS	Right Atrium	heart
15	chr5:128300600-128303600	Active TSS	Right Ventricle	heart
16	chr5:128300800-128302000	Bivalent/Poised TSS	Fetal Stomach	stomach
17	chr5:128300800-128302200	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr5:128301200-128302000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr5:128301200-128302000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
20	chr5:128301400-128302000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:128301400-128302400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:128301400-128302600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:128301600-128302000	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr5:128301600-128302200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
25	chr5:128301600-128302200	Flanking Bivalent TSS/Enh	HMEC	breast
26	chr5:128301600-128302200	Flanking Bivalent TSS/Enh	NHEK	skin
27	chr5:128301600-128303200	ZNF genes & repeats	Fetal Heart	heart
28	chr5:128301800-128302000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
29	chr5:128301800-128302000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr5:128301800-128302000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:128301800-128302000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:128301800-128302000	Bivalent Enhancer	Brain Hippocampus Middle	brain
33	chr5:128301800-128302000	Bivalent Enhancer	Esophagus	oesophagus
34	chr5:128301800-128302000	Flanking Active TSS	Gastric	stomach
35	chr5:128301800-128302200	Enhancers	Placenta	Placenta
36	chr5:128302000-128302200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
37	chr5:128302000-128302200	Flanking Active TSS	Esophagus	oesophagus
38	chr5:128302000-128303000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:128302200-128302400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
40	chr5:128302200-128302400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr5:128302200-128302400	Bivalent Enhancer	NHEK	skin
42	chr5:128302200-128302800	Enhancers	Esophagus	oesophagus
43	chr5:128302200-128302800	Flanking Active TSS	HMEC	breast
44	chr5:128302400-128302600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:128302400-128303000	Enhancers	NHEK	skin
46	chr5:128302400-128303400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr5:128302600-128302800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:128302600-128302800	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr5:128302600-128303000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:128302800-128303000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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