Variant report

Variant	nsv819519
Chromosome Location	chr5:96271474-96272548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:752)
CpG islands
(count:305)
Chromatin interactive
region (count:20)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:752 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:96271539-96271791	K562	blood:	n/a	n/a
2	ARID3A	chr5:96270080-96271882	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:96272524-96273151	K562	blood:	n/a	n/a
4	ATF2	chr5:96269349-96271908	GM12878	blood:	n/a	n/a
5	ATF2	chr5:96269341-96272020	GM12878	blood:	n/a	n/a
6	ATF2	chr5:96271414-96271891	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr5:96272302-96272953	GM12878	blood:	n/a	n/a
8	ATF3	chr5:96271412-96272003	A549	lung:	n/a	chr5:96271598-96271607
9	ATF3	chr5:96271405-96271931	A549	lung:	n/a	chr5:96271598-96271607
10	BACH1	chr5:96271532-96271794	K562	blood:	n/a	n/a
11	BACH1	chr5:96270935-96272279	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr5:96271427-96271759	GM12878	blood:	n/a	n/a
13	BCL11A	chr5:96271515-96271872	GM12878	blood:	n/a	chr5:96271575-96271584 chr5:96271542-96271555
14	BCL3	chr5:96271410-96271963	GM12878	blood:	n/a	chr5:96271575-96271584 chr5:96271542-96271555
15	BCL3	chr5:96271390-96271949	A549	lung:	n/a	chr5:96271575-96271584 chr5:96271542-96271555
16	BCL3	chr5:96269875-96271981	A549	lung:	n/a	chr5:96271575-96271584 chr5:96271542-96271555
17	BCLAF1	chr5:96270460-96271544	K562	blood:	n/a	n/a
18	BCLAF1	chr5:96269507-96271960	GM12878	blood:	n/a	chr5:96271575-96271584 chr5:96271542-96271555
19	BCLAF1	chr5:96272194-96272958	GM12878	blood:	n/a	n/a
20	BCLAF1	chr5:96269281-96272131	GM12878	blood:	n/a	chr5:96271575-96271584 chr5:96271542-96271555
21	BHLHE40	chr5:96272221-96272882	K562	blood:	n/a	n/a
22	BHLHE40	chr5:96271468-96271922	HepG2	liver:	n/a	chr5:96271596-96271612
23	BHLHE40	chr5:96272304-96272717	GM12878	blood:	n/a	n/a
24	BHLHE40	chr5:96271528-96271886	GM12878	blood:	n/a	chr5:96271596-96271612
25	BHLHE40	chr5:96269756-96271951	K562	blood:	n/a	chr5:96271596-96271612
26	BRCA1	chr5:96269677-96271847	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr5:96271290-96271585	H1-hESC	embryonic stem cell:	n/a	n/a
28	BRCA1	chr5:96271731-96271886	HepG2	liver:	n/a	n/a
29	CBX3	chr5:96270257-96271888	K562	blood:	n/a	n/a
30	CBX3	chr5:96270211-96272283	HCT-116	colon:	n/a	n/a
31	CBX3	chr5:96271505-96271849	K562	blood:	n/a	n/a
32	CCNT2	chr5:96270387-96272610	K562	blood:	n/a	chr5:96271598-96271607
33	CEBPB	chr5:96271528-96271801	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr5:96269247-96272002	GM12878	blood:	n/a	chr5:96269489-96269502
35	CEBPB	chr5:96270057-96271872	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr5:96271568-96271749	K562	blood:	n/a	n/a
37	CEBPD	chr5:96271538-96271961	HepG2	liver:	n/a	n/a
38	CHD1	chr5:96271659-96271889	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr5:96267264-96273025	GM12878	blood:	n/a	n/a
40	CHD2	chr5:96270368-96271877	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr5:96270374-96271917	HepG2	liver:	n/a	n/a
42	CHD2	chr5:96269397-96271973	GM12878	blood:	n/a	n/a
43	CHD2	chr5:96270125-96272827	Hela-S3	cervix:	n/a	n/a
44	CHD2	chr5:96270350-96271893	K562	blood:	n/a	n/a
45	CREB1	chr5:96269923-96272841	GM12878	blood:	n/a	n/a
46	CREB1	chr5:96270038-96272040	HepG2	liver:	n/a	n/a
47	CREB1	chr5:96271511-96271794	A549	lung:	n/a	n/a
48	CREB1	chr5:96271413-96271973	A549	lung:	n/a	n/a
49	CTBP2	chr5:96270292-96271975	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr5:96271652-96271697	Kidney_OC	kidney:	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	chr5:96272218-96272268	AG10803	skin:	n/a
2	chr5:96271449-96271499	LNCaP	prostate:	n/a
3	chr5:96272218-96272268	Caco-2	colon:	n/a
4	chr5:96271967-96272017	AG10803	skin:	n/a
5	chr5:96271684-96271734	SAEC	small airway:	n/a
6	chr5:96271822-96271872	HEEpiC	esophagus:	n/a
7	chr5:96271449-96271499	A549	lung:	n/a
8	chr5:96272218-96272268	PrEC	prostate:	n/a
9	chr5:96271967-96272017	HUVEC	blood vessel:	n/a
10	chr5:96272218-96272268	HEK293	kidney:	embryo
11	chr5:96271967-96272017	HPAEpiC	pulmonary alveolar:	n/a
12	chr5:96271822-96271872	HL-60	blood:	n/a
13	chr5:96271967-96272017	H1-hESC	embryonic stem cell:	embryo
14	chr5:96271684-96271734	AG09309	skin:	n/a
15	chr5:96271684-96271734	HEK293	kidney:	embryo
16	chr5:96272218-96272268	HepG2	liver:	n/a
17	chr5:96271967-96272017	ProgFib	skin:	n/a
18	chr5:96271449-96271499	GM12878	blood:	n/a
19	chr5:96271684-96271734	HNPCEpiC	eye:	n/a
20	chr5:96272218-96272268	BE2_C	brain:	n/a
21	chr5:96271967-96272017	NHDF-neo	bronchial:	n/a
22	chr5:96271822-96271872	HUVEC	blood vessel:	n/a
23	chr5:96271967-96272017	AG04449	skin:	fetal
24	chr5:96271449-96271499	GM06990	blood:	n/a
25	chr5:96271449-96271499	IMR90	lung:	fetal
26	chr5:96271449-96271499	SK-N-SH_RA	brain:	n/a
27	chr5:96272218-96272268	HCT-116	colon:	n/a
28	chr5:96272218-96272268	AoSMC	blood vessel:	n/a
29	chr5:96271822-96271872	ovcar-3	ovarian:	n/a
30	chr5:96271684-96271734	AoSMC	blood vessel:	n/a
31	chr5:96271684-96271734	HIPEpiC	eye:	n/a
32	chr5:96271684-96271734	HAEpiC	amniotic membrane:	n/a
33	chr5:96271967-96272017	U87	brain:	n/a
34	chr5:96272218-96272268	PANC-1	pancreas:	n/a
35	chr5:96272218-96272268	HCPEpiC	choroid plexus:	n/a
36	chr5:96271684-96271734	SK-N-SH	brain:	n/a
37	chr5:96271967-96272017	ovcar-3	ovarian:	n/a
38	chr5:96272218-96272268	MCF10A-Er-Src	breast:	n/a
39	chr5:96271449-96271499	HCPEpiC	choroid plexus:	n/a
40	chr5:96271684-96271734	LNCaP	prostate:	n/a
41	chr5:96271822-96271872	AG09319	gingival:	n/a
42	chr5:96272218-96272268	NHBE	bronchial:	n/a
43	chr5:96271684-96271734	ProgFib	skin:	n/a
44	chr5:96271967-96272017	SK-N-SH	brain:	n/a
45	chr5:96271449-96271499	BE2_C	brain:	n/a
46	chr5:96271449-96271499	SK-N-MC	brain:	n/a
47	chr5:96271449-96271499	NH-A	brain:	n/a
48	chr5:96271967-96272017	AG09309	skin:	n/a
49	chr5:96271822-96271872	SK-N-MC	brain:	n/a
50	chr5:96271449-96271499	ProgFib	skin:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:53294589..53297391-chr5:96270042..96272818,2	MCF-7	breast:
2	chr5:95992791..95994704-chr5:96271567..96273123,2	MCF-7	breast:
3	chr5:96140146..96144558-chr5:96269495..96273172,12	MCF-7	breast:
4	chr5:96093022..96094716-chr5:96270503..96272835,2	MCF-7	breast:
5	chr5:96267069..96273023-chr5:96293959..96302488,9	K562	blood:
6	chr11:82996621..82997375-chr5:96270593..96271497,2	Hela-S3	cervix:
7	chr5:96038474..96039975-chr5:96271296..96273305,2	MCF-7	breast:
8	chr5:96270050..96274625-chr5:96293478..96297387,4	MCF-7	breast:
9	chr5:96207193..96215079-chr5:96269183..96273335,11	MCF-7	breast:
10	chr5:96141925..96145850-chr5:96265867..96272606,9	K562	blood:
11	chr5:96140726..96144602-chr5:96269258..96273227,6	MCF-7	breast:
12	chr5:95997114..95998690-chr5:96269799..96271534,2	MCF-7	breast:
13	chr5:96142546..96145890-chr5:96269908..96273049,5	K562	blood:
14	chr5:96270007..96273203-chr5:96295277..96299165,4	K562	blood:
15	chr5:96268234..96272758-chr5:96290815..96294670,4	K562	blood:
16	chr5:96272346..96274929-chr5:96377055..96379060,2	K562	blood:
17	chr5:96210744..96214555-chr5:96268958..96271606,4	MCF-7	breast:
18	chr5:96270371..96272445-chr8:126010140..126012494,2	MCF-7	breast:
19	chr5:96270867..96272370-chr5:96475978..96478536,2	MCF-7	breast:
20	chr5:40679620..40680144-chr5:96271535..96272266,2	NB4	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LNPEP-1	chr5:96271698-96273470	NONHSAT102916
2	lnc-CTD-2260A17.2.1-1	chr5:96269826-96271513	NONHSAT102912

No data

Variant related genes	Relation type
ENSG00000247121	TF binding region
ENSG00000247121	CpG island
ENSG00000200884	chromatin interactions
ENSG00000272109	chromatin interactions
ENSG00000113441	chromatin interactions
ENSG00000137500	chromatin interactions
ENSG00000255234	chromatin interactions
ENSG00000171522	chromatin interactions
ENSG00000164308	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000164307	chromatin interactions
ENSG00000104549	chromatin interactions
ENSG00000145721	chromatin interactions
ENSG00000253513	chromatin interactions
ENSG00000247121	chromatin interactions
ENSG00000153113	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17550822	chr5:96271533-96271534	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79785803	chr5:96271538-96271539	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs564082166	chr5:96271542-96271543	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs180938598	chr5:96271556-96271557	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs549933905	chr5:96271576-96271577	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs114731989	chr5:96271588-96271589	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs17515799	chr5:96271602-96271603	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs535447255	chr5:96271625-96271626	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs17515806	chr5:96271633-96271634	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2617434	chr5:96271638-96271639	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs371685738	chr5:96271646-96271647	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs74709656	chr5:96271649-96271650	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs558382261	chr5:96271651-96271652	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs576838549	chr5:96271738-96271739	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
15	rs537733641	chr5:96271739-96271740	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
16	rs374546980	chr5:96271758-96271759	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
17	rs574399072	chr5:96271769-96271770	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
18	rs541417635	chr5:96271775-96271776	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
19	rs553843562	chr5:96271788-96271789	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
20	rs185601392	chr5:96271804-96271805	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
21	rs538957339	chr5:96271809-96271810	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
22	rs190265882	chr5:96271817-96271818	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
23	rs531532706	chr5:96271827-96271828	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
24	rs543713716	chr5:96271832-96271833	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
25	rs561805635	chr5:96271838-96271839	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
26	rs529291626	chr5:96271849-96271850	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
27	rs111266067	chr5:96271850-96271851	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
28	rs547431848	chr5:96271857-96271858	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
29	rs556945976	chr5:96271897-96271898	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
30	rs117273653	chr5:96271942-96271943	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
31	rs560706314	chr5:96271972-96271973	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
32	rs2548223	chr5:96272006-96272007	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
33	rs570278666	chr5:96272019-96272020	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
34	rs537221180	chr5:96272029-96272030	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
35	rs556031605	chr5:96272065-96272066	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
36	rs567824864	chr5:96272066-96272067	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
37	rs148133629	chr5:96272095-96272096	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
38	rs371353574	chr5:96272096-96272097	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
39	rs535476242	chr5:96272112-96272113	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
40	rs13163567	chr5:96272158-96272159	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
41	rs371694223	chr5:96272191-96272192	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
42	rs183260325	chr5:96272199-96272200	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
43	rs56009267	chr5:96272233-96272234	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs545475214	chr5:96272355-96272356	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
45	rs2548224	chr5:96272420-96272421	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs576204713	chr5:96272445-96272446	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
47	rs543206526	chr5:96272452-96272453	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
48	rs562023848	chr5:96272464-96272465	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
49	rs529164915	chr5:96272480-96272481	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
50	rs114730948	chr5:96272484-96272485	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96268200-96274000	Active TSS	GM12878-XiMat	blood
2	chr5:96268400-96272600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr5:96268400-96273400	Active TSS	Fetal Thymus	thymus
4	chr5:96268400-96273600	Active TSS	Thymus	Thymus
5	chr5:96269200-96273200	Active TSS	Right Atrium	heart
6	chr5:96269400-96272400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr5:96269400-96273000	Active TSS	Right Ventricle	heart
8	chr5:96269400-96273600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:96269600-96272600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:96269600-96273000	Active TSS	Brain Angular Gyrus	brain
11	chr5:96269600-96273000	Active TSS	Colonic Mucosa	Colon
12	chr5:96269600-96273800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:96269800-96271600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:96269800-96272400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:96269800-96272600	Active TSS	Fetal Brain Female	brain
16	chr5:96269800-96273000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:96269800-96273000	Active TSS	Aorta	Aorta
18	chr5:96269800-96273000	Active TSS	Brain Anterior Caudate	brain
19	chr5:96269800-96273000	Active TSS	Fetal Muscle Trunk	muscle
20	chr5:96269800-96273000	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr5:96269800-96273200	Active TSS	Stomach Smooth Muscle	stomach
22	chr5:96269800-96273600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr5:96270000-96271800	Bivalent/Poised TSS	HepG2	liver
24	chr5:96270000-96272200	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr5:96270000-96272400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:96270000-96272600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr5:96270000-96272600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:96270000-96272600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:96270000-96272600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:96270000-96272600	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr5:96270000-96272600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr5:96270000-96272600	Active TSS	Fetal Intestine Large	intestine
33	chr5:96270000-96272600	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr5:96270000-96272600	Active TSS	Dnd41	blood
35	chr5:96270000-96272800	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr5:96270000-96272800	Active TSS	Esophagus	oesophagus
37	chr5:96270000-96272800	Active TSS	Fetal Stomach	stomach
38	chr5:96270000-96272800	Active TSS	Placenta Amnion	Placenta Amnion
39	chr5:96270000-96272800	Active TSS	Small Intestine	intestine
40	chr5:96270000-96272800	Active TSS	A549	lung
41	chr5:96270000-96273000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr5:96270000-96273000	Active TSS	Left Ventricle	heart
43	chr5:96270000-96273000	Active TSS	Lung	lung
44	chr5:96270000-96273000	Active TSS	Ovary	ovary
45	chr5:96270000-96273000	Active TSS	Pancreas	Pancrea
46	chr5:96270000-96273000	Active TSS	Psoas Muscle	Psoas
47	chr5:96270000-96273200	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr5:96270200-96271800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:96270200-96272400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:96270200-96272400	Active TSS	H9 Cell Line	embryonic stem cell

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