Variant report

Variant	nsv508219
Chromosome Location	chr3:52741193-52803899
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:594)
CpG islands
(count:306)
Chromatin interactive
region (count:30)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:52758489-52758965	HepG2	liver:	n/a	n/a
2	ATF2	chr3:52744472-52744991	GM12878	blood:	n/a	n/a
3	ATF2	chr3:52741443-52742145	GM12878	blood:	n/a	n/a
4	ATF2	chr3:52741478-52741983	GM12878	blood:	n/a	n/a
5	BACH1	chr3:52749161-52749351	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr3:52786331-52786594	K562	blood:	n/a	n/a
7	BACH1	chr3:52748460-52748960	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr3:52786384-52786562	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr3:52793631-52793861	GM12878	blood:	n/a	n/a
10	BCL11A	chr3:52744614-52744853	GM12878	blood:	n/a	n/a
11	BCL3	chr3:52741529-52741966	GM12878	blood:	n/a	n/a
12	BCLAF1	chr3:52754901-52755402	GM12878	blood:	n/a	n/a
13	BCLAF1	chr3:52741495-52742117	GM12878	blood:	n/a	n/a
14	BCLAF1	chr3:52744457-52744913	GM12878	blood:	n/a	chr3:52744481-52744490
15	BCLAF1	chr3:52744471-52744855	GM12878	blood:	n/a	chr3:52744481-52744490
16	BHLHE40	chr3:52744642-52744936	GM12878	blood:	n/a	n/a
17	BHLHE40	chr3:52741636-52742038	GM12878	blood:	n/a	n/a
18	BRCA1	chr3:52797277-52797821	Hela-S3	cervix:	n/a	n/a
19	CBX3	chr3:52762670-52763068	K562	blood:	n/a	n/a
20	CBX3	chr3:52762771-52762990	K562	blood:	n/a	n/a
21	CBX3	chr3:52753660-52754031	K562	blood:	n/a	n/a
22	CBX3	chr3:52753698-52753945	K562	blood:	n/a	n/a
23	CEBPB	chr3:52786104-52786372	HepG2	liver:	n/a	n/a
24	CEBPB	chr3:52745295-52745424	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr3:52758604-52758925	Hela-S3	cervix:	n/a	chr3:52758757-52758768
26	CEBPB	chr3:52797612-52797847	HepG2	liver:	n/a	n/a
27	CEBPB	chr3:52758630-52758901	A549	lung:	n/a	chr3:52758757-52758768
28	CEBPB	chr3:52786051-52786445	MCF-7	breast:	n/a	n/a
29	CEBPB	chr3:52786121-52786396	HepG2	liver:	n/a	n/a
30	CEBPB	chr3:52753787-52754024	K562	blood:	n/a	chr3:52753881-52753892
31	CEBPB	chr3:52753842-52753927	HepG2	liver:	n/a	chr3:52753881-52753892
32	CEBPB	chr3:52758603-52758906	K562	blood:	n/a	chr3:52758757-52758768
33	CEBPB	chr3:52758621-52758808	HepG2	liver:	n/a	chr3:52758757-52758768
34	CEBPB	chr3:52786055-52786424	MCF-7	breast:	n/a	n/a
35	CEBPB	chr3:52755153-52755437	HepG2	liver:	n/a	chr3:52755300-52755311
36	CEBPB	chr3:52786114-52786299	HepG2	liver:	n/a	n/a
37	CEBPB	chr3:52758622-52758912	IMR90	lung:	n/a	chr3:52758757-52758768
38	CEBPB	chr3:52797425-52797928	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr3:52758573-52758942	HepG2	liver:	n/a	chr3:52758757-52758768
40	CHD1	chr3:52749008-52749053	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr3:52741759-52741872	GM12878	blood:	n/a	n/a
42	CHD2	chr3:52748920-52749115	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr3:52748418-52748562	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr3:52776476-52776707	A549	lung:	n/a	chr3:52776613-52776634 chr3:52776611-52776629
45	CTCF	chr3:52776540-52776690	HPAF	blood vessel:	n/a	chr3:52776613-52776634 chr3:52776611-52776629
46	CTCF	chr3:52776220-52776370	HFF-Myc	foreskin:	n/a	n/a
47	CTCF	chr3:52776540-52776690	GM12875	blood:	n/a	chr3:52776613-52776634 chr3:52776611-52776629
48	CTCF	chr3:52772585-52772621	Spleen_OC	spleen:	n/a	n/a
49	CTCF	chr3:52776642-52776699	Fibrobl	skin:	n/a	n/a
50	CTCF	chr3:52776560-52776710	AG09309	skin:	n/a	chr3:52776613-52776634 chr3:52776611-52776629

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:52748359-52748409	RPTEC	kidney:	n/a
2	chr3:52748359-52748409	RPTEC	kidney:	n/a
3	chr3:52786576-52786626	HAEpiC	amniotic membrane:	n/a
4	chr3:52748469-52748519	HCT-116	colon:	n/a
5	chr3:52802660-52802710	NH-A	brain:	n/a
6	chr3:52801074-52801124	SKMC	muscle:	n/a
7	chr3:52748359-52748409	SKMC	muscle:	n/a
8	chr3:52802660-52802710	NB4	blood:	n/a
9	chr3:52786576-52786626	NHDF-neo	bronchial:	n/a
10	chr3:52748359-52748409	GM12892	blood:	n/a
11	chr3:52748359-52748409	AG04449	skin:	fetal
12	chr3:52748359-52748409	PANC-1	pancreas:	n/a
13	chr3:52786576-52786626	NH-A	brain:	n/a
14	chr3:52786576-52786626	IMR90	lung:	fetal
15	chr3:52748469-52748519	SKMC	muscle:	n/a
16	chr3:52802660-52802710	AG09309	skin:	n/a
17	chr3:52786576-52786626	PANC-1	pancreas:	n/a
18	chr3:52748469-52748519	HRPEpiC	eye:	n/a
19	chr3:52748359-52748409	K562	blood:	n/a
20	chr3:52748469-52748519	GM12891	blood:	n/a
21	chr3:52786576-52786626	GM06990	blood:	n/a
22	chr3:52801074-52801124	NB4	blood:	n/a
23	chr3:52786576-52786626	SK-N-SH	brain:	n/a
24	chr3:52801074-52801124	ProgFib	skin:	n/a
25	chr3:52748359-52748409	NT2-D1	testis:	n/a
26	chr3:52801074-52801124	HRCEpiC	kidney:	n/a
27	chr3:52786576-52786626	Jurkat	blood:	n/a
28	chr3:52748359-52748409	AG09319	gingival:	n/a
29	chr3:52801074-52801124	HRE	kidney:	n/a
30	chr3:52748359-52748409	HCM	heart:	n/a
31	chr3:52802660-52802710	Jurkat	blood:	n/a
32	chr3:52748469-52748519	HRCEpiC	kidney:	n/a
33	chr3:52801074-52801124	HCT-116	colon:	n/a
34	chr3:52801074-52801124	T-47D	breast:	n/a
35	chr3:52801074-52801124	MCF10A-Er-Src	breast:	n/a
36	chr3:52786576-52786626	U87	brain:	n/a
37	chr3:52801074-52801124	AoSMC	blood vessel:	n/a
38	chr3:52748359-52748409	HCF	heart:	n/a
39	chr3:52802660-52802710	HepG2	liver:	n/a
40	chr3:52786576-52786626	ProgFib	skin:	n/a
41	chr3:52748469-52748519	HepG2	liver:	n/a
42	chr3:52786576-52786626	LNCaP	prostate:	n/a
43	chr3:52786576-52786626	HL-60	blood:	n/a
44	chr3:52801074-52801124	U87	brain:	n/a
45	chr3:52748359-52748409	SK-N-SH_RA	brain:	n/a
46	chr3:52786576-52786626	HRCEpiC	kidney:	n/a
47	chr3:52802660-52802710	K562	blood:	n/a
48	chr3:52786576-52786626	HCT-116	colon:	n/a
49	chr3:52748359-52748409	HRCEpiC	kidney:	n/a
50	chr3:52786576-52786626	GM12892	blood:	n/a

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:52776114..52776854-chr3:53020723..53021564,2	K562	blood:
2	chr3:52738891..52741652-chr3:52748723..52751069,3	K562	blood:
3	chr3:52567315..52569798-chr3:52739141..52741499,3	MCF-7	breast:
4	chr3:52739833..52741982-chr3:52754978..52756987,2	MCF-7	breast:
5	chr3:52738339..52742191-chr3:52748850..52754504,6	MCF-7	breast:
6	chr3:52567128..52569011-chr3:52738941..52741649,3	K562	blood:
7	chr3:52759566..52762334-chr3:52803179..52805863,2	MCF-7	breast:
8	chr3:52743756..52745497-chr3:52746997..52749593,2	MCF-7	breast:
9	chr3:52799929..52802463-chr3:52808466..52811160,2	K562	blood:
10	chr3:52442610..52445343-chr3:52803282..52805357,2	K562	blood:
11	chr3:52743407..52745349-chr3:52750023..52752984,2	K562	blood:
12	chr3:52744150..52746226-chr3:52767313..52769534,2	K562	blood:
13	chr3:52788031..52789791-chr3:52792352..52793907,2	MCF-7	breast:
14	chr3:52739698..52743017-chr3:52757894..52760178,3	MCF-7	breast:
15	chr3:52743756..52745497-chr3:52746997..52749593,2	MCF-7	breast:
16	chr3:52569513..52572297-chr3:52740518..52742042,2	K562	blood:
17	chr3:52738473..52741784-chr3:52742214..52745484,3	MCF-7	breast:
18	chr3:52718628..52724105-chr3:52738117..52743946,12	MCF-7	breast:
19	chr3:52738889..52741112-chr3:52764320..52766937,2	MCF-7	breast:
20	chr3:52802780..52807602-chr3:52827391..52831755,5	K562	blood:
21	chr3:52743407..52745349-chr3:52750023..52752984,2	K562	blood:
22	chr3:52800007..52802785-chr3:52803271..52804893,2	K562	blood:
23	chr3:52787616..52789879-chr3:52803393..52805587,2	MCF-7	breast:
24	chr3:52738807..52741797-chr3:52744029..52746270,3	K562	blood:
25	chr3:52788031..52789791-chr3:52792352..52793907,2	MCF-7	breast:
26	chr3:52803715..52805902-chr3:52874029..52875964,2	MCF-7	breast:
27	chr3:52738874..52740696-chr3:52755413..52758017,3	MCF-7	breast:
28	chr3:52766545..52769494-chr3:52804406..52806680,2	K562	blood:
29	chr3:52803280..52805303-chr3:52832255..52833885,2	MCF-7	breast:
30	chr3:52722798..52726345-chr3:52803116..52806448,3	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITIH1-2	chr3:52788187-52788706	NONHSAT089955
2	lnc-GLT8D1-2	chr3:52780077-52780130	NONHSAT089954
3	lnc-SPCS1-2	chr3:52768751-52769029	NONHSAT089953
4	lnc-GNL3-1	chr3:52741703-52742035	NONHSAT089952
5	lnc-GLT8D1-2	chr3:52778255-52778321	NONHSAT089954
6	lnc-ITIH1-2	chr3:52787542-52787905	NONHSAT089955
7	lnc-GLT8D1-2	chr3:52777244-52777477	NONHSAT089954

No data

Variant related genes	Relation type
ENSG00000271137	TF binding region
NEK4	TF binding region
ENSG00000270941	TF binding region
GLT8D1	TF binding region
ENSG00000271137	CpG island
NEK4	CpG island
ENSG00000270941	CpG island
GLT8D1	CpG island
ENSG00000238862	chromatin interactions
ENSG00000016864	chromatin interactions
ENSG00000163930	chromatin interactions
ENSG00000248592	chromatin interactions
ENSG00000114904	chromatin interactions
ENSG00000010318	chromatin interactions
ENSG00000270941	chromatin interactions
ENSG00000213533	chromatin interactions
ENSG00000163939	chromatin interactions
ENSG00000162267	chromatin interactions
ENSG00000222345	chromatin interactions
ENSG00000168273	chromatin interactions
ENSG00000163938	chromatin interactions
ENSG00000168268	chromatin interactions
ENSG00000212493	chromatin interactions
ENSG00000114902	chromatin interactions
ENSG00000252787	chromatin interactions

Extended variants
information (count: 2358 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2358 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368870258	chr3:52741213-52741214	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs182465283	chr3:52741279-52741280	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs528564319	chr3:52741288-52741289	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs548403196	chr3:52741327-52741328	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs141601903	chr3:52741343-52741344	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs531126545	chr3:52741383-52741384	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs374398229	chr3:52741395-52741396	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs569552552	chr3:52741411-52741412	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs538588274	chr3:52741447-52741448	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs551874912	chr3:52741469-52741470	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs565826236	chr3:52741492-52741493	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs77274803	chr3:52741497-52741498	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs80081196	chr3:52741498-52741499	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs144514501	chr3:52741510-52741511	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs554837412	chr3:52741516-52741517	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs148763875	chr3:52741537-52741538	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs536965459	chr3:52741553-52741554	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs76516400	chr3:52741581-52741582	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs551269413	chr3:52741582-52741583	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs558725056	chr3:52741583-52741584	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs74266034	chr3:52741591-52741592	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs188411252	chr3:52741593-52741594	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs557182731	chr3:52741634-52741635	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs370937077	chr3:52741642-52741643	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs368768726	chr3:52741671-52741672	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs372890607	chr3:52741672-52741673	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs374725106	chr3:52741675-52741676	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs199733019	chr3:52741712-52741713	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
29	rs201648722	chr3:52741777-52741778	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
30	rs367696178	chr3:52741826-52741827	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
31	rs538417409	chr3:52741854-52741855	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
32	rs573036074	chr3:52741895-52741896	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
33	rs541886064	chr3:52741913-52741914	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
34	rs561967540	chr3:52741935-52741936	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
35	rs187159349	chr3:52741945-52741946	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
36	rs372197210	chr3:52741949-52741950	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
37	rs375212812	chr3:52741962-52741963	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
38	rs531086688	chr3:52741965-52741966	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
39	rs551000148	chr3:52741975-52741976	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
40	rs564838908	chr3:52741991-52741992	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
41	rs150901717	chr3:52742032-52742033	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
42	rs190478850	chr3:52742091-52742092	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs182890500	chr3:52742146-52742147	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs534720934	chr3:52742185-52742186	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs145894928	chr3:52742306-52742307	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs371870607	chr3:52742310-52742311	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs568759724	chr3:52742315-52742316	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs559855814	chr3:52742347-52742348	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs369626277	chr3:52742359-52742360	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs139388579	chr3:52742362-52742363	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2375 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52737800-52741400	Active TSS	NHLF	lung
2	chr3:52737800-52741600	Active TSS	Colonic Mucosa	Colon
3	chr3:52738000-52741400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:52738000-52741400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:52738000-52741600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:52738200-52741400	Active TSS	NHDF-Ad	bronchial
7	chr3:52738200-52741800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr3:52738400-52741600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:52738400-52741800	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr3:52738600-52741200	Active TSS	Small Intestine	intestine
11	chr3:52738600-52741400	Active TSS	Aorta	Aorta
12	chr3:52738800-52741200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr3:52738800-52741200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:52738800-52741200	Active TSS	Muscle Satellite Cultured Cells	--
15	chr3:52738800-52741200	Active TSS	Gastric	stomach
16	chr3:52738800-52741200	Active TSS	Psoas Muscle	Psoas
17	chr3:52738800-52741400	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr3:52738800-52741600	Active TSS	A549	lung
19	chr3:52739000-52741200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:52739000-52741200	Active TSS	Fetal Kidney	kidney
21	chr3:52739000-52741200	Active TSS	Left Ventricle	heart
22	chr3:52739000-52741200	Active TSS	HMEC	breast
23	chr3:52739000-52741400	Active TSS	H1 Cell Line	embryonic stem cell
24	chr3:52739000-52741400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:52739000-52741400	Active TSS	Pancreas	Pancrea
26	chr3:52739000-52741400	Active TSS	Right Atrium	heart
27	chr3:52739000-52741400	Active TSS	Right Ventricle	heart
28	chr3:52739000-52741400	Active TSS	Hela-S3	cervix
29	chr3:52739000-52741400	Active TSS	HSMMtube	muscle
30	chr3:52739000-52741400	Active TSS	K562	blood
31	chr3:52739000-52741400	Active TSS	NHEK	skin
32	chr3:52739000-52741600	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr3:52739000-52741600	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr3:52739000-52741600	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr3:52739000-52742600	Active TSS	GM12878-XiMat	blood
36	chr3:52739200-52741200	Active TSS	Brain Hippocampus Middle	brain
37	chr3:52739200-52741400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr3:52739200-52741400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr3:52739200-52741400	Active TSS	HSMM	muscle
40	chr3:52739200-52741600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:52739400-52741200	Active TSS	Fetal Muscle Trunk	muscle
42	chr3:52739400-52741400	Active TSS	Fetal Intestine Large	intestine
43	chr3:52739400-52741600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr3:52740200-52741200	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr3:52740200-52741200	Bivalent/Poised TSS	HepG2	liver
46	chr3:52740200-52741400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr3:52740200-52741800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:52740200-52742200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:52740400-52741200	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr3:52740400-52741200	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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