Variant report

Variant	nsv534570
Chromosome Location	chr4:76214619-76498362
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2098)
CpG islands
(count:1893)
Chromatin interactive
region (count:89)
LncRNA
region (count:34)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:76357925-76358217	K562	blood:	n/a	n/a
2	ARID3A	chr4:76480609-76480806	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:76439344-76440057	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:76439405-76439833	K562	blood:	n/a	n/a
5	ARID3A	chr4:76437467-76438438	K562	blood:	n/a	n/a
6	ARID3A	chr4:76434574-76434943	K562	blood:	n/a	n/a
7	ARID3A	chr4:76437727-76437927	HepG2	liver:	n/a	n/a
8	ATF1	chr4:76439337-76439841	K562	blood:	n/a	n/a
9	ATF1	chr4:76294711-76294852	K562	blood:	n/a	n/a
10	ATF1	chr4:76437864-76438168	K562	blood:	n/a	n/a
11	ATF2	chr4:76486985-76487436	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr4:76439284-76440327	GM12878	blood:	n/a	n/a
13	ATF2	chr4:76439274-76439786	GM12878	blood:	n/a	n/a
14	ATF2	chr4:76439249-76439978	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr4:76486989-76487449	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF3	chr4:76439328-76439876	K562	blood:	n/a	n/a
17	ATF3	chr4:76439518-76439757	GM12878	blood:	n/a	n/a
18	ATF3	chr4:76439381-76439850	GM12878	blood:	n/a	n/a
19	BACH1	chr4:76282966-76282978	K562	blood:	n/a	n/a
20	BACH1	chr4:76439428-76439686	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr4:76480996-76481351	GM12878	blood:	n/a	n/a
22	BATF	chr4:76440194-76440844	GM12878	blood:	n/a	n/a
23	BATF	chr4:76474266-76474540	GM12878	blood:	n/a	chr4:76474394-76474405
24	BATF	chr4:76450713-76450977	GM12878	blood:	n/a	chr4:76450817-76450828
25	BATF	chr4:76481003-76481353	GM12878	blood:	n/a	n/a
26	BATF	chr4:76440332-76440868	GM12878	blood:	n/a	n/a
27	BATF	chr4:76474272-76474523	GM12878	blood:	n/a	chr4:76474394-76474405
28	BCL3	chr4:76439249-76439830	A549	lung:	n/a	n/a
29	BCL3	chr4:76215762-76216089	GM12878	blood:	n/a	n/a
30	BCLAF1	chr4:76440332-76440865	GM12878	blood:	n/a	n/a
31	BCLAF1	chr4:76214975-76215350	GM12878	blood:	n/a	chr4:76215329-76215338
32	BCLAF1	chr4:76439104-76440050	GM12878	blood:	n/a	n/a
33	BHLHE40	chr4:76439451-76439822	A549	lung:	n/a	n/a
34	BHLHE40	chr4:76439185-76440105	GM12878	blood:	n/a	n/a
35	BHLHE40	chr4:76439097-76440038	K562	blood:	n/a	n/a
36	BHLHE40	chr4:76437690-76438526	K562	blood:	n/a	n/a
37	BHLHE40	chr4:76439303-76440184	HepG2	liver:	n/a	n/a
38	BRCA1	chr4:76438975-76440183	Hela-S3	cervix:	n/a	n/a
39	BRCA1	chr4:76439090-76439822	HepG2	liver:	n/a	n/a
40	CBX3	chr4:76456803-76457266	K562	blood:	n/a	n/a
41	CBX3	chr4:76439128-76440088	K562	blood:	n/a	n/a
42	CBX3	chr4:76434696-76435261	K562	blood:	n/a	n/a
43	CBX3	chr4:76439416-76439859	K562	blood:	n/a	n/a
44	CBX3	chr4:76434658-76435271	K562	blood:	n/a	n/a
45	CBX3	chr4:76458579-76459078	K562	blood:	n/a	n/a
46	CCNT2	chr4:76439321-76440085	K562	blood:	n/a	n/a
47	CCNT2	chr4:76433940-76434162	K562	blood:	n/a	n/a
48	CCNT2	chr4:76437899-76438217	K562	blood:	n/a	chr4:76438122-76438131
49	CEBPB	chr4:76473226-76473488	MCF-7	breast:	n/a	chr4:76473398-76473411
50	CEBPB	chr4:76405326-76405574	HepG2	liver:	n/a	chr4:76405485-76405496

(count:1893 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:76443292-76443342	HEK293	kidney:	embryo
2	chr4:76439657-76439707	Jurkat	blood:	n/a
3	chr4:76443292-76443342	HEK293	kidney:	embryo
4	chr4:76439657-76439707	Jurkat	blood:	n/a
5	chr4:76407419-76407469	A549	lung:	n/a
6	chr4:76439698-76439748	HPAEpiC	pulmonary alveolar:	n/a
7	chr4:76439436-76439486	SK-N-SH	brain:	n/a
8	chr4:76487391-76487441	HCT-116	colon:	n/a
9	chr4:76439698-76439748	NHBE	bronchial:	n/a
10	chr4:76438412-76438462	HUVEC	blood vessel:	n/a
11	chr4:76439401-76439451	NHDF-neo	bronchial:	n/a
12	chr4:76439704-76439754	RPTEC	kidney:	n/a
13	chr4:76481269-76481319	PFSK-1	brain:	n/a
14	chr4:76373607-76373657	MCF10A-Er-Src	breast:	n/a
15	chr4:76439549-76439599	MCF10A-Er-Src	breast:	n/a
16	chr4:76439966-76440016	A549	lung:	n/a
17	chr4:76439401-76439451	HRCEpiC	kidney:	n/a
18	chr4:76439453-76439503	HRPEpiC	eye:	n/a
19	chr4:76439966-76440016	HAEpiC	amniotic membrane:	n/a
20	chr4:76437005-76437055	HNPCEpiC	eye:	n/a
21	chr4:76444784-76444834	PrEC	prostate:	n/a
22	chr4:76439369-76439419	Jurkat	blood:	n/a
23	chr4:76438412-76438462	Caco-2	colon:	n/a
24	chr4:76439964-76440014	NT2-D1	testis:	n/a
25	chr4:76453118-76453168	GM19239	blood:	n/a
26	chr4:76439698-76439748	HEEpiC	esophagus:	n/a
27	chr4:76481169-76481219	AoSMC	blood vessel:	n/a
28	chr4:76439401-76439451	HNPCEpiC	eye:	n/a
29	chr4:76439401-76439451	HEEpiC	esophagus:	n/a
30	chr4:76439453-76439503	HCT-116	colon:	n/a
31	chr4:76439826-76439876	ProgFib	skin:	n/a
32	chr4:76439966-76440016	CMK	blood:	n/a
33	chr4:76317967-76318017	ovcar-3	ovarian:	n/a
34	chr4:76481169-76481219	HEEpiC	esophagus:	n/a
35	chr4:76481269-76481319	PANC-1	pancreas:	n/a
36	chr4:76480905-76480955	HepG2	liver:	n/a
37	chr4:76439401-76439451	SK-N-SH_RA	brain:	n/a
38	chr4:76439657-76439707	AoSMC	blood vessel:	n/a
39	chr4:76439704-76439754	PrEC	prostate:	n/a
40	chr4:76481169-76481219	SK-N-MC	brain:	n/a
41	chr4:76439695-76439745	SKMC	muscle:	n/a
42	chr4:76439140-76439190	HIPEpiC	eye:	n/a
43	chr4:76439964-76440014	HRE	kidney:	n/a
44	chr4:76439964-76440014	RPTEC	kidney:	n/a
45	chr4:76481299-76481349	Hepatocyte	liver:	n/a
46	chr4:76481053-76481103	AoSMC	blood vessel:	n/a
47	chr4:76481169-76481219	AG10803	skin:	n/a
48	chr4:76453118-76453168	HRCEpiC	kidney:	n/a
49	chr4:76438412-76438462	HCPEpiC	choroid plexus:	n/a
50	chr4:76487391-76487441	Hela-S3	cervix:	n/a

(count:89 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr10:99051863..99052445-chr4:76439211..76440158,2	HCT-116	colon:
2	chr4:76442203..76444511-chr4:76451481..76453969,2	MCF-7	breast:
3	chr4:75948889..75950476-chr4:76335747..76337951,2	MCF-7	breast:
4	chr4:76439531..76442512-chr4:76470832..76473735,3	K562	blood:
5	chr4:76349656..76352296-chr4:76353820..76356620,3	K562	blood:
6	chr3:64008912..64009599-chr4:76498142..76499061,2	MCF-7	breast:
7	chr4:76420497..76422499-chr4:76425693..76428176,2	K562	blood:
8	chr4:76430445..76433609-chr4:76438042..76440483,3	MCF-7	breast:
9	chr4:76277770..76280636-chr4:76287963..76290651,3	K562	blood:
10	chr4:76425741..76429884-chr4:76437670..76440920,5	MCF-7	breast:
11	chr4:76435271..76437331-chr4:76452184..76454371,2	K562	blood:
12	chr4:76438956..76440459-chr4:76445959..76447983,2	MCF-7	breast:
13	chr4:76423980..76426785-chr4:76427353..76430216,3	K562	blood:
14	chr4:76422807..76425261-chr4:76435739..76438350,2	MCF-7	breast:
15	chr4:76423980..76426785-chr4:76427353..76430216,3	K562	blood:
16	chr4:76438429..76440494-chr4:76466545..76468929,3	MCF-7	breast:
17	chr4:76414660..76417351-chr4:76438596..76440448,2	MCF-7	breast:
18	chr4:76435978..76441393-chr4:76648372..76651737,6	K562	blood:
19	chr4:76229171..76231861-chr4:76436993..76438920,2	MCF-7	breast:
20	chr4:76438334..76441776-chr4:76453885..76456966,3	MCF-7	breast:
21	chr4:76399278..76401138-chr4:76438621..76440600,2	K562	blood:
22	chr4:76440275..76442057-chr4:76460555..76462360,2	K562	blood:
23	chr4:76435271..76437331-chr4:76452184..76454371,2	K562	blood:
24	chr4:76498357..76499621-chr4:76769117..76770116,10	K562	blood:
25	chr4:76439042..76440575-chr4:76474365..76476076,2	MCF-7	breast:
26	chr4:76498264..76499501-chr4:76769042..76769962,9	MCF-7	breast:
27	chr4:76490931..76493112-chr4:76495867..76498198,2	MCF-7	breast:
28	chr4:76437150..76439919-chr4:76648856..76651737,3	K562	blood:
29	chr4:76422807..76425261-chr4:76435739..76438350,2	MCF-7	breast:
30	chr11:62608624..62609435-chr4:76438781..76439739,2	NB4	blood:
31	chr4:76460814..76463695-chr4:76466513..76469151,2	K562	blood:
32	chr10:99205614..99206273-chr4:76439380..76440338,2	HCT-116	colon:
33	chr4:76420497..76422947-chr4:76425693..76428176,3	K562	blood:
34	chr4:76440275..76442057-chr4:76460555..76462360,2	K562	blood:
35	chr12:12857382..12858013-chr4:76490677..76491260,2	MCF-7	breast:
36	chr4:75799924..75800563-chr4:76214703..76215703,2	MCF-7	breast:
37	chr4:76432863..76437584-chr4:76437624..76440912,10	MCF-7	breast:
38	chr4:76498276..76499263-chr4:76633255..76634192,3	K562	blood:
39	chr4:76420847..76422620-chr4:76423931..76425641,2	K562	blood:
40	chr4:75857716..75858592-chr4:76214836..76215509,3	MCF-7	breast:
41	chr4:76415601..76419005-chr4:76420514..76424216,3	K562	blood:
42	chr4:76432863..76437584-chr4:76437624..76440912,10	MCF-7	breast:
43	chr4:75973274..75973936-chr4:76393915..76394737,2	MCF-7	breast:
44	chr4:76420497..76422947-chr4:76425693..76428176,3	K562	blood:
45	chr4:76414542..76417005-chr4:76418412..76420404,2	K562	blood:
46	chr4:76420497..76422499-chr4:76425693..76428176,2	K562	blood:
47	chr4:76278035..76280636-chr4:76286764..76289463,2	K562	blood:
48	chr4:76436258..76441363-chr4:76597157..76599917,7	K562	blood:
49	chr4:76415660..76419332-chr4:76436998..76440962,4	K562	blood:
50	chr4:76433807..76436085-chr4:76437020..76439277,2	MCF-7	breast:

(count:34 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-THAP6-2	chr4:76286934-76287774	XLOC_003576
2	lnc-RCHY1-6	chr4:76322898-76323124	l_2668_chr4:76322897-76324689_adipose
3	lnc-THAP6-2	chr4:76283191-76283545	XLOC_003576
4	lnc-THAP6-1	chr4:76333105-76333222	XLOC_003577
5	lnc-RCHY1-2	chr4:76284180-76284234	XLOC_003987
6	lnc-THAP6-1	chr4:76326428-76326502	XLOC_003577
7	lnc-THAP6-2	chr4:76280528-76280597	ENSG00000251383
8	lnc-RCHY1-2	chr4:76266672-76266847	XLOC_003987
9	lnc-THAP6-2	chr4:76280531-76280597	XLOC_003576
10	lnc-C4orf26-1	chr4:76488445-76488532	NONHSAT147290
11	lnc-RCHY1-2	chr4:76266489-76266522	XLOC_003987
12	lnc-THAP6-1	chr4:76347264-76347402	XLOC_003577
13	lnc-C4orf26-1	chr4:76481258-76481359	NONHSAT147290
14	lnc-THAP6-2	chr4:76279286-76279325	XLOC_003576
15	lnc-C4orf26-3	chr4:76469540-76469906	NONHSAT096929
16	lnc-THAP6-1	chr4:76347264-76347402	XLOC_003577
17	lnc-RCHY1-1	chr4:76286417-76286557	XLOC_003988
18	lnc-RCHY1-3	chr4:76286352-76286392	XLOC_003986
19	lnc-THAP6-1	chr4:76347789-76348232	XLOC_003577
20	lnc-RCHY1-2	chr4:76272507-76272663	XLOC_003987
21	lnc-THAP6-2	chr4:76280528-76280597	XLOC_003576
22	lnc-C4orf26-3	chr4:76467619-76467766	NONHSAT096929
23	lnc-C4orf26-2	chr4:76498310-76498349	refGeneNc_4304_NR_033964
24	lnc-THAP6-2	chr4:76283191-76283380	XLOC_003576
25	lnc-THAP6-1	chr4:76347789-76348233	XLOC_003577
26	lnc-THAP6-2	chr4:76279286-76279325	ENSG00000251383
27	lnc-THAP6-1	chr4:76326405-76326502	XLOC_003577
28	lnc-THAP6-2	chr4:76286934-76287776	ENSG00000251383
29	lnc-C4orf26-3	chr4:76470242-76471971	NONHSAT096929
30	lnc-RCHY1-1	chr4:76359328-76359659	XLOC_003988
31	lnc-RCHY1-6	chr4:76324645-76324689	l_2668_chr4:76322897-76324689_adipose
32	lnc-THAP6-2	chr4:76283191-76283380	ENSG00000251383
33	lnc-C4orf26-1	chr4:76481751-76481794	NONHSAT147290
34	lnc-C4orf26-3	chr4:76465069-76465169	NONHSAT096929

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	THAP6	hsa-miR-106b-5p	chr4:76453061-76453080
2	THAP6	hsa-miR-106b-5p	chr4:76467703-76467723
3	THAP6	hsa-miR-106b-5p	chr4:76442080-76442100

Variant related genes	Relation type
C4orf26	TF binding region
ENSG00000250735	TF binding region
RCHY1	TF binding region
ENSG00000248646	TF binding region
ENSG00000251383	TF binding region
ENSG00000251185	TF binding region
ENSG00000251454	TF binding region
THAP6	TF binding region
C4orf26	CpG island
ENSG00000250735	CpG island
RCHY1	CpG island
ENSG00000248646	CpG island
ENSG00000251383	CpG island
ENSG00000251185	CpG island
ENSG00000251454	CpG island
THAP6	CpG island
ENSG00000251383	chromatin interactions
ENSG00000138768	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000213390	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000174792	chromatin interactions
ENSG00000269891	chromatin interactions
ENSG00000174796	chromatin interactions
ENSG00000171311	chromatin interactions
ENSG00000163743	chromatin interactions
ENSG00000138757	chromatin interactions
ENSG00000169116	chromatin interactions
ENSG00000171307	chromatin interactions
AP1G1	miRNA target sites
ESYT1	miRNA target sites
ANXA5	miRNA target sites
SMARCA2	miRNA target sites
SMAP2	miRNA target sites
SPTY2D1	miRNA target sites
IL6R	miRNA target sites
ESRRA	miRNA target sites
SMARCA4	miRNA target sites
SIX4	miRNA target sites

Extended variants
information (count: 6664 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:6664 , 50 per page) page: 1 2 3 4 5 6 7 ... 134

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569083533	chr4:76214656-76214657	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs529984795	chr4:76214661-76214662	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs547916863	chr4:76214688-76214689	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs566457195	chr4:76214732-76214733	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545225090	chr4:76214734-76214735	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs533496151	chr4:76214752-76214753	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs1995635	chr4:76214796-76214797	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs570176035	chr4:76214901-76214902	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs10014607	chr4:76214914-76214915	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs571812234	chr4:76214929-76214930	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs138241201	chr4:76214933-76214934	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575891858	chr4:76214953-76214954	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs536952171	chr4:76214975-76214976	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563120391	chr4:76215027-76215028	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs367798793	chr4:76215034-76215035	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs181486179	chr4:76215048-76215049	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs573283908	chr4:76215075-76215076	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs77429729	chr4:76215081-76215082	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557271775	chr4:76215099-76215100	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372787912	chr4:76215108-76215109	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs567789187	chr4:76215110-76215111	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536356861	chr4:76215133-76215134	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs78577526	chr4:76215160-76215161	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs118149876	chr4:76215178-76215179	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs142852045	chr4:76215198-76215199	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs116815947	chr4:76215207-76215208	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs80142391	chr4:76215209-76215210	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs145488295	chr4:76215244-76215245	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs527304429	chr4:76215254-76215255	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs551735345	chr4:76215302-76215303	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs55907134	chr4:76215305-76215306	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs138010254	chr4:76215376-76215377	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs550940640	chr4:76215381-76215382	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs569440872	chr4:76215418-76215419	Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs368602624	chr4:76215439-76215440	Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs557667428	chr4:76215506-76215507	Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs536407867	chr4:76215507-76215508	Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs116072915	chr4:76215520-76215521	Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs573550678	chr4:76215542-76215543	Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs56071716	chr4:76215548-76215549	Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs59834403	chr4:76215558-76215559	Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs577452376	chr4:76215649-76215650	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs4146487	chr4:76215681-76215682	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565920940	chr4:76215703-76215704	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs4146486	chr4:76215752-76215753	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs62315106	chr4:76215848-76215849	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs559462676	chr4:76215876-76215877	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs528107953	chr4:76215883-76215884	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs560036079	chr4:76215893-76215894	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs527566689	chr4:76215899-76215900	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	21364760	CNVD
Autism	18414403	CNVD

Chromatin state (count:3216 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76213400-76215800	Enhancers	Fetal Muscle Leg	muscle
2	chr4:76213600-76215200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:76214200-76215400	Enhancers	Colon Smooth Muscle	Colon
4	chr4:76214800-76216200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:76215000-76216200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:76215200-76215400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr4:76215200-76215600	Enhancers	Fetal Muscle Trunk	muscle
8	chr4:76215200-76215600	Enhancers	HSMM	muscle
9	chr4:76215200-76215800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:76215200-76215800	Enhancers	Psoas Muscle	Psoas
11	chr4:76215200-76216000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:76215200-76216000	Enhancers	NHEK	skin
13	chr4:76215400-76216000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:76215400-76216000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr4:76215400-76216000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr4:76215400-76216000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:76225800-76227000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:76226800-76227000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr4:76227000-76232800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:76231400-76232200	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr4:76231800-76234800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:76232000-76232400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:76232800-76233600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:76233200-76233600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:76233600-76235000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:76235000-76235200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:76249000-76251400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:76249600-76254400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:76249600-76255000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:76249800-76250000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:76249800-76250400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr4:76250000-76250600	Enhancers	Colon Smooth Muscle	Colon
33	chr4:76250000-76250600	Enhancers	Fetal Brain Male	brain
34	chr4:76250000-76250600	Enhancers	Fetal Muscle Leg	muscle
35	chr4:76250000-76251200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr4:76250200-76250400	Enhancers	Right Atrium	heart
37	chr4:76250200-76251000	Enhancers	Aorta	Aorta
38	chr4:76250200-76251200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr4:76250200-76251400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr4:76250400-76251200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr4:76250400-76251200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr4:76250400-76251600	Weak transcription	Right Atrium	heart
43	chr4:76250400-76252000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr4:76250600-76250800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:76250600-76251000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr4:76250600-76251400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr4:76250800-76251000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:76250800-76251000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:76251000-76251600	Weak transcription	Aorta	Aorta
50	chr4:76251200-76252600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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