Variant report

Variant	esv3402579
Chromosome Location	chr3:52323712-52330410
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:452)
CpG islands
(count:489)
Chromatin interactive
region (count:24)
LncRNA
region (count:3)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:52323580-52324259	HepG2	liver:	n/a	n/a
2	BHLHE40	chr3:52323814-52324618	HepG2	liver:	n/a	n/a
3	BHLHE40	chr3:52325558-52325776	GM12878	blood:	n/a	n/a
4	BRCA1	chr3:52324038-52324475	HepG2	liver:	n/a	n/a
5	CEBPD	chr3:52323690-52324317	HepG2	liver:	n/a	n/a
6	CEBPD	chr3:52329933-52330195	HepG2	liver:	n/a	n/a
7	CEBPD	chr3:52323953-52324236	HepG2	liver:	n/a	n/a
8	CHD2	chr3:52323810-52324488	HepG2	liver:	n/a	n/a
9	CTCF	chr3:52324440-52324590	GM12878	blood:	n/a	n/a
10	CTCF	chr3:52325540-52325690	AG04449	skin:	n/a	n/a
11	CTCF	chr3:52325580-52325730	AoAF	blood vessel:	n/a	n/a
12	CTCF	chr3:52324500-52324650	RPTEC	kidney:	n/a	n/a
13	CTCF	chr3:52325560-52325710	AoAF	blood vessel:	n/a	n/a
14	CTCF	chr3:52325580-52325730	Caco-2	colon:	n/a	n/a
15	CTCF	chr3:52324460-52324610	GM12875	blood:	n/a	n/a
16	CTCF	chr3:52325540-52325690	GM12870	blood:	n/a	n/a
17	CTCF	chr3:52325488-52325743	GM10266	blood:	n/a	n/a
18	CTCF	chr3:52325560-52325710	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr3:52325580-52325730	NHLF	lung:	n/a	n/a
20	CTCF	chr3:52324460-52324610	AG04449	skin:	n/a	n/a
21	CTCF	chr3:52324360-52324510	Caco-2	colon:	n/a	n/a
22	CTCF	chr3:52324440-52324590	GM12873	blood:	n/a	n/a
23	CTCF	chr3:52325540-52325690	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr3:52325580-52325730	AG09319	gingival:	n/a	n/a
25	CTCF	chr3:52325507-52325751	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr3:52325540-52325690	WERI-Rb-1	eye:	n/a	n/a
27	CTCF	chr3:52325560-52325710	MCF-7	breast:	n/a	n/a
28	CTCF	chr3:52325542-52325768	Medullo	brain:	n/a	n/a
29	CTCF	chr3:52325560-52325710	GM12873	blood:	n/a	n/a
30	CTCF	chr3:52324440-52324590	GM12872	blood:	n/a	n/a
31	CTCF	chr3:52325512-52325760	LNCaP	prostate:	n/a	n/a
32	CTCF	chr3:52325507-52325743	ProgFib	skin:	n/a	n/a
33	CTCF	chr3:52325500-52325650	NHEK	skin:	n/a	n/a
34	CTCF	chr3:52324500-52324650	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr3:52324507-52324573	MCF-7	breast:	n/a	n/a
36	CTCF	chr3:52325262-52325998	A549	lung:	n/a	n/a
37	CTCF	chr3:52324460-52324610	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr3:52327061-52327083	GM12891	blood:	n/a	n/a
39	CTCF	chr3:52325502-52325785	MCF-7	breast:	n/a	n/a
40	CTCF	chr3:52325560-52325710	HCM	heart:	n/a	n/a
41	CTCF	chr3:52325524-52325773	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr3:52325449-52325836	IMR90	lung:	n/a	n/a
43	CTCF	chr3:52325500-52325829	K562	blood:	n/a	n/a
44	CTCF	chr3:52325087-52325126	GM13976	blood:	n/a	n/a
45	CTCF	chr3:52324440-52324590	GM12874	blood:	n/a	n/a
46	CTCF	chr3:52325520-52325670	GM12801	blood:	n/a	n/a
47	CTCF	chr3:52325580-52325730	HAc	cerebellar:	n/a	n/a
48	CTCF	chr3:52324500-52324650	HEK293	kidney:	n/a	n/a
49	CTCF	chr3:52324480-52324630	GM12871	blood:	n/a	n/a
50	CTCF	chr3:52325240-52325390	Hela-S3	cervix:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:52324089-52324139	SAEC	small airway:	n/a
2	chr3:52324089-52324139	SAEC	small airway:	n/a
3	chr3:52328244-52328294	Jurkat	blood:	n/a
4	chr3:52325846-52325896	NT2-D1	testis:	n/a
5	chr3:52324089-52324139	HCPEpiC	choroid plexus:	n/a
6	chr3:52325846-52325896	ovcar-3	ovarian:	n/a
7	chr3:52328244-52328294	HEK293	kidney:	embryo
8	chr3:52328244-52328294	AoSMC	blood vessel:	n/a
9	chr3:52329338-52329388	ovcar-3	ovarian:	n/a
10	chr3:52326883-52326933	ProgFib	skin:	n/a
11	chr3:52329510-52329560	NHBE	bronchial:	n/a
12	chr3:52325846-52325896	HL-60	blood:	n/a
13	chr3:52329086-52329136	AG04450	lung:	fetal
14	chr3:52329338-52329388	ProgFib	skin:	n/a
15	chr3:52327549-52327599	ProgFib	skin:	n/a
16	chr3:52329086-52329136	AG04449	skin:	fetal
17	chr3:52327549-52327599	HCPEpiC	choroid plexus:	n/a
18	chr3:52329510-52329560	HepG2	liver:	n/a
19	chr3:52326883-52326933	HIPEpiC	eye:	n/a
20	chr3:52329338-52329388	SAEC	small airway:	n/a
21	chr3:52324089-52324139	AG04449	skin:	fetal
22	chr3:52329086-52329136	Caco-2	colon:	n/a
23	chr3:52325846-52325896	HCF	heart:	n/a
24	chr3:52327549-52327599	GM12892	blood:	n/a
25	chr3:52327549-52327599	Hepatocyte	liver:	n/a
26	chr3:52327549-52327599	SAEC	small airway:	n/a
27	chr3:52325846-52325896	GM19239	blood:	n/a
28	chr3:52324089-52324139	SK-N-MC	brain:	n/a
29	chr3:52329086-52329136	HRE	kidney:	n/a
30	chr3:52329510-52329560	IMR90	lung:	fetal
31	chr3:52329338-52329388	NT2-D1	testis:	n/a
32	chr3:52329338-52329388	HCM	heart:	n/a
33	chr3:52329338-52329388	HRE	kidney:	n/a
34	chr3:52326883-52326933	SKMC	muscle:	n/a
35	chr3:52325846-52325896	RPTEC	kidney:	n/a
36	chr3:52325846-52325896	GM12891	blood:	n/a
37	chr3:52328244-52328294	GM12878	blood:	n/a
38	chr3:52324089-52324139	HAEpiC	amniotic membrane:	n/a
39	chr3:52328244-52328294	NHDF-neo	bronchial:	n/a
40	chr3:52329086-52329136	HPAEpiC	pulmonary alveolar:	n/a
41	chr3:52324089-52324139	AG10803	skin:	n/a
42	chr3:52329086-52329136	K562	blood:	n/a
43	chr3:52326883-52326933	NHDF-neo	bronchial:	n/a
44	chr3:52325846-52325896	Jurkat	blood:	n/a
45	chr3:52329510-52329560	HAEpiC	amniotic membrane:	n/a
46	chr3:52329510-52329560	AG10803	skin:	n/a
47	chr3:52329338-52329388	T-47D	breast:	n/a
48	chr3:52327549-52327599	NH-A	brain:	n/a
49	chr3:52329338-52329388	SK-N-SH_RA	brain:	n/a
50	chr3:52328244-52328294	HCF	heart:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:52321744..52323842-chr3:52332822..52334732,2	MCF-7	breast:
2	chr3:52329944..52331770-chr3:52331986..52334614,2	MCF-7	breast:
3	chr3:52321086..52323733-chr3:52324166..52327461,5	MCF-7	breast:
4	chr3:52321768..52324071-chr3:52488633..52490328,2	K562	blood:
5	chr11:64544225..64546734-chr3:52326528..52328188,2	MCF-7	breast:
6	chr3:52261084..52264395-chr3:52328500..52330625,3	K562	blood:
7	chr3:52272181..52276088-chr3:52318615..52323958,11	MCF-7	breast:
8	chr3:52309930..52312660-chr3:52325068..52328067,2	K562	blood:
9	chr3:52271022..52275105-chr3:52320320..52325575,6	K562	blood:
10	chr3:52325194..52326110-chr3:52418963..52419968,4	K562	blood:
11	chr3:52325177..52326410-chr3:52373105..52374205,12	K562	blood:
12	chr3:52326037..52327688-chr3:52417410..52420365,2	K562	blood:
13	chr3:52325231..52326092-chr3:52373318..52374482,3	MCF-7	breast:
14	chr3:52325192..52326082-chr3:52419115..52419793,5	MCF-7	breast:
15	chr3:52325390..52326371-chr3:52418909..52419771,3	MCF-7	breast:
16	chr3:52321086..52323733-chr3:52324166..52327461,5	MCF-7	breast:
17	chr3:52328227..52330124-chr3:52332267..52334731,2	MCF-7	breast:
18	chr3:52325201..52326075-chr3:52373199..52374128,6	MCF-7	breast:
19	chr3:52324588..52327004-chr3:52442941..52444727,2	MCF-7	breast:
20	chr3:52310660..52314319-chr3:52321399..52324807,9	K562	blood:
21	chr3:52261625..52264395-chr3:52328500..52330239,2	K562	blood:
22	chr3:52271015..52274727-chr3:52321912..52324165,4	K562	blood:
23	chr3:52318594..52322784-chr3:52322985..52327026,4	MCF-7	breast:
24	chr3:52329641..52331855-chr3:52332621..52335782,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR82-1	chr3:52327043-52327177	ENSG00000242797.1
2	lnc-WDR82-1	chr3:52327043-52327183	NONHSAT089912
3	lnc-WDR82-1	chr3:52324335-52324901	NONHSAT089912

miRNA name	Chromosome Location	mirBase accession
hsa-miR-135a-3p	chr3:52328248-52328269	MIMAT0004595
hsa-miR-135a-5p	chr3:52328286-52328308	MIMAT0000428_1

No data

Variant related genes	Relation type
WDR82	TF binding region
GLYCTK	TF binding region
MIR135A1	TF binding region
WDR82	CpG island
GLYCTK	CpG island
MIR135A1	CpG island
ENSG00000239732	chromatin interactions
ENSG00000010318	chromatin interactions
ENSG00000168066	chromatin interactions
ENSG00000247596	chromatin interactions
ENSG00000010322	chromatin interactions
ENSG00000164091	chromatin interactions
ENSG00000269038	chromatin interactions
ENSG00000243224	chromatin interactions
ENSG00000168237	chromatin interactions
ENSG00000163930	chromatin interactions
ENSG00000242797	chromatin interactions
ENSG00000114841	chromatin interactions
ENSG00000173366	chromatin interactions

Extended variants
information (count: 312 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570705709	chr3:52323725-52323726	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs374974104	chr3:52323738-52323739	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs556972604	chr3:52323803-52323804	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs539386647	chr3:52323829-52323830	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs575214778	chr3:52323882-52323883	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs142051686	chr3:52323936-52323937	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs566893902	chr3:52324051-52324052	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs111911849	chr3:52324060-52324061	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs190088564	chr3:52324089-52324090	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs575696449	chr3:52324117-52324118	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs3796342	chr3:52324165-52324166	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs3796343	chr3:52324169-52324170	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs181613870	chr3:52324172-52324173	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs146239975	chr3:52324258-52324259	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs115159391	chr3:52324268-52324269	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs541467767	chr3:52324270-52324271	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs377326932	chr3:52324327-52324328	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs371537941	chr3:52324334-52324335	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs374566243	chr3:52324354-52324355	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
20	rs3796344	chr3:52324379-52324380	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
21	rs530549463	chr3:52324415-52324416	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
22	rs368685090	chr3:52324422-52324423	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
23	rs542144158	chr3:52324429-52324430	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
24	rs34502608	chr3:52324437-52324438	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
25	rs147683385	chr3:52324438-52324439	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
26	rs111414656	chr3:52324472-52324473	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
27	rs546919622	chr3:52324485-52324486	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
28	rs566832352	chr3:52324500-52324501	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
29	rs199870798	chr3:52324511-52324512	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
30	rs142438608	chr3:52324518-52324519	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
31	rs113417839	chr3:52324523-52324524	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
32	rs148898909	chr3:52324587-52324588	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
33	rs143627715	chr3:52324600-52324601	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
34	rs569316990	chr3:52324603-52324604	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
35	rs374934931	chr3:52324605-52324606	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
36	rs537968823	chr3:52324607-52324608	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
37	rs367897984	chr3:52324651-52324652	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
38	rs558300707	chr3:52324662-52324663	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
39	rs144605797	chr3:52324683-52324684	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
40	rs534178934	chr3:52324688-52324689	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
41	rs141653227	chr3:52324691-52324692	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
42	rs199508919	chr3:52324723-52324724	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
43	rs370537289	chr3:52324738-52324739	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
44	rs375846004	chr3:52324766-52324767	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
45	rs541404563	chr3:52324784-52324785	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
46	rs368572307	chr3:52324808-52324809	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
47	rs200377937	chr3:52324811-52324812	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
48	rs543996917	chr3:52324910-52324911	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs371251254	chr3:52324918-52324919	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs141774124	chr3:52324968-52324969	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52322200-52323800	Flanking Active TSS	Liver	Liver
2	chr3:52322400-52323800	Enhancers	Spleen	Spleen
3	chr3:52322400-52324400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:52322400-52324600	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr3:52322400-52325200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
6	chr3:52322600-52323800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:52322600-52323800	Flanking Active TSS	Colonic Mucosa	Colon
8	chr3:52322600-52323800	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr3:52322600-52324000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr3:52322600-52324000	Enhancers	Fetal Intestine Large	intestine
11	chr3:52322600-52324000	Enhancers	Fetal Intestine Small	intestine
12	chr3:52322600-52324000	Flanking Active TSS	HepG2	liver
13	chr3:52322600-52324200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr3:52322600-52324200	Enhancers	Gastric	stomach
15	chr3:52322600-52324600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:52322600-52324600	Enhancers	Pancreas	Pancrea
17	chr3:52322600-52324800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr3:52322600-52325200	Weak transcription	Ovary	ovary
19	chr3:52322600-52325400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr3:52322600-52331800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:52322600-52332000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:52322600-52334400	Weak transcription	NHDF-Ad	bronchial
23	chr3:52322800-52323800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:52322800-52324000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:52322800-52324400	Enhancers	Placenta	Placenta
26	chr3:52322800-52324600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr3:52322800-52324600	Weak transcription	Esophagus	oesophagus
28	chr3:52322800-52324800	Enhancers	A549	lung
29	chr3:52322800-52325000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:52322800-52325800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:52322800-52326400	Weak transcription	Fetal Brain Female	brain
32	chr3:52322800-52330800	Weak transcription	Brain Germinal Matrix	brain
33	chr3:52322800-52331400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr3:52322800-52331400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:52322800-52331600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:52322800-52331800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:52323000-52323800	Enhancers	Brain Anterior Caudate	brain
38	chr3:52323000-52323800	Enhancers	Fetal Kidney	kidney
39	chr3:52323000-52324000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr3:52323000-52324000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr3:52323000-52324000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr3:52323000-52324000	Enhancers	K562	blood
43	chr3:52323000-52324200	Weak transcription	Fetal Stomach	stomach
44	chr3:52323000-52324400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:52323000-52324600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr3:52323000-52324600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:52323000-52324600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr3:52323000-52324800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:52323000-52324800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:52323000-52324800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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