Variant report

Variant	nsv1012472
Chromosome Location	chr2:32657052-33338578
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6722)
CpG islands
(count:3849)
Chromatin interactive
region (count:501)
LncRNA
region (count:107)
Mature miRNA
region (count: 2)
miRNA target
sites (count:7)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:32857326-32857639	K562	blood:	n/a	n/a
2	ARID3A	chr2:33141143-33141554	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:33333652-33334321	K562	blood:	n/a	n/a
4	ARID3A	chr2:32667025-32667589	HepG2	liver:	n/a	chr2:32667295-32667311
5	ARID3A	chr2:33171330-33171675	K562	blood:	n/a	n/a
6	ARID3A	chr2:33285574-33285673	K562	blood:	n/a	n/a
7	ARID3A	chr2:33190665-33190848	K562	blood:	n/a	n/a
8	ARID3A	chr2:32946460-32946757	K562	blood:	n/a	n/a
9	ARID3A	chr2:33244964-33245164	K562	blood:	n/a	n/a
10	ARID3A	chr2:33119076-33119529	K562	blood:	n/a	n/a
11	ARID3A	chr2:33287152-33287157	K562	blood:	n/a	n/a
12	ARID3A	chr2:32858261-32858418	K562	blood:	n/a	n/a
13	ARID3A	chr2:32816899-32817528	K562	blood:	n/a	n/a
14	ARID3A	chr2:33248405-33248594	HepG2	liver:	n/a	n/a
15	ARID3A	chr2:33175022-33175445	K562	blood:	n/a	n/a
16	ARID3A	chr2:32815131-32815135	K562	blood:	n/a	n/a
17	ARID3A	chr2:33226994-33227246	HepG2	liver:	n/a	n/a
18	ARID3A	chr2:33030069-33030809	HepG2	liver:	n/a	n/a
19	ARID3A	chr2:32852895-32853266	HepG2	liver:	n/a	n/a
20	ARID3A	chr2:33181117-33181278	K562	blood:	n/a	n/a
21	ARID3A	chr2:33289402-33289458	K562	blood:	n/a	n/a
22	ARID3A	chr2:33002613-33003226	HepG2	liver:	n/a	n/a
23	ARID3A	chr2:33247797-33249376	K562	blood:	n/a	chr2:33248889-33248905
24	ARID3A	chr2:33258718-33258942	K562	blood:	n/a	n/a
25	ARID3A	chr2:33058909-33059022	K562	blood:	n/a	n/a
26	ARID3A	chr2:32678784-32679113	HepG2	liver:	n/a	n/a
27	ARID3A	chr2:33185346-33186670	K562	blood:	n/a	n/a
28	ARID3A	chr2:32993323-32994137	K562	blood:	n/a	n/a
29	ARID3A	chr2:32704957-32705557	K562	blood:	n/a	n/a
30	ATF1	chr2:33333227-33334393	K562	blood:	n/a	n/a
31	ATF1	chr2:32661286-32661606	K562	blood:	n/a	n/a
32	ATF1	chr2:33296225-33296352	K562	blood:	n/a	n/a
33	ATF1	chr2:33248183-33248687	K562	blood:	n/a	n/a
34	ATF1	chr2:33185637-33186428	K562	blood:	n/a	n/a
35	ATF1	chr2:33058786-33059089	K562	blood:	n/a	n/a
36	ATF1	chr2:33294897-33295215	K562	blood:	n/a	n/a
37	ATF1	chr2:32710011-32710380	K562	blood:	n/a	n/a
38	ATF1	chr2:33090668-33091073	K562	blood:	n/a	n/a
39	ATF1	chr2:33244969-33245176	K562	blood:	n/a	n/a
40	ATF1	chr2:32836490-32836739	K562	blood:	n/a	n/a
41	ATF1	chr2:33246713-33247139	K562	blood:	n/a	n/a
42	ATF1	chr2:33062116-33062407	K562	blood:	n/a	n/a
43	ATF1	chr2:32872262-32872524	K562	blood:	n/a	n/a
44	ATF1	chr2:33158402-33158866	K562	blood:	n/a	n/a
45	ATF1	chr2:32783652-32783878	K562	blood:	n/a	n/a
46	ATF1	chr2:32946452-32946958	K562	blood:	n/a	n/a
47	ATF1	chr2:33175066-33175451	K562	blood:	n/a	n/a
48	ATF1	chr2:32817084-32817526	K562	blood:	n/a	n/a
49	ATF1	chr2:33119131-33119514	K562	blood:	n/a	n/a
50	ATF1	chr2:33171355-33172083	K562	blood:	n/a	chr2:33171922-33171936

(count:3849 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:33172444-33172494	NHBE	bronchial:	n/a
2	chr2:33245988-33246038	SK-N-SH_RA	brain:	n/a
3	chr2:32852456-32852506	H1-hESC	embryonic stem cell:	embryo
4	chr2:32852456-32852506	ECC-1	luminal epithelium:	n/a
5	chr2:33169353-33169403	A549	lung:	n/a
6	chr2:32849433-32849483	GM06990	blood:	n/a
7	chr2:33172444-33172494	NHBE	bronchial:	n/a
8	chr2:33245988-33246038	SK-N-SH_RA	brain:	n/a
9	chr2:32852456-32852506	H1-hESC	embryonic stem cell:	embryo
10	chr2:32852456-32852506	ECC-1	luminal epithelium:	n/a
11	chr2:33169353-33169403	A549	lung:	n/a
12	chr2:32849433-32849483	GM06990	blood:	n/a
13	chr2:32852828-32852878	A549	lung:	n/a
14	chr2:33240386-33240436	MCF10A-Er-Src	breast:	n/a
15	chr2:33172002-33172052	HCT-116	colon:	n/a
16	chr2:33110986-33111036	GM06990	blood:	n/a
17	chr2:33175761-33175811	HNPCEpiC	eye:	n/a
18	chr2:32757307-32757357	PFSK-1	brain:	n/a
19	chr2:33171334-33171384	HL-60	blood:	n/a
20	chr2:32852760-32852810	NHDF-neo	bronchial:	n/a
21	chr2:32853069-32853119	HEEpiC	esophagus:	n/a
22	chr2:32849433-32849483	HAEpiC	amniotic membrane:	n/a
23	chr2:33172444-33172494	HepG2	liver:	n/a
24	chr2:33311428-33311478	U87	brain:	n/a
25	chr2:33172442-33172492	NHBE	bronchial:	n/a
26	chr2:32852931-32852981	NHBE	bronchial:	n/a
27	chr2:33151749-33151799	NT2-D1	testis:	n/a
28	chr2:32872637-32872687	HepG2	liver:	n/a
29	chr2:32980137-32980187	HNPCEpiC	eye:	n/a
30	chr2:32757069-32757119	HCF	heart:	n/a
31	chr2:33111675-33111725	HPAEpiC	pulmonary alveolar:	n/a
32	chr2:33111675-33111725	Hepatocyte	liver:	n/a
33	chr2:32956589-32956639	Hepatocyte	liver:	n/a
34	chr2:33049885-33049935	PrEC	prostate:	n/a
35	chr2:32853480-32853530	NH-A	brain:	n/a
36	chr2:33106489-33106539	HAEpiC	amniotic membrane:	n/a
37	chr2:33049885-33049935	PANC-1	pancreas:	n/a
38	chr2:32852828-32852878	NHBE	bronchial:	n/a
39	chr2:33240386-33240436	HRCEpiC	kidney:	n/a
40	chr2:33217152-33217202	HCPEpiC	choroid plexus:	n/a
41	chr2:32905314-32905364	SK-N-SH_RA	brain:	n/a
42	chr2:32853023-32853073	HCT-116	colon:	n/a
43	chr2:32852760-32852810	AG09309	skin:	n/a
44	chr2:32678846-32678896	NH-A	brain:	n/a
45	chr2:33107130-33107180	RPTEC	kidney:	n/a
46	chr2:32849433-32849483	MCF10A-Er-Src	breast:	n/a
47	chr2:32853039-32853089	BJ	skin:	n/a
48	chr2:32855761-32855811	U87	brain:	n/a
49	chr2:32905314-32905364	SKMC	muscle:	n/a
50	chr2:32853039-32853089	PANC-1	pancreas:	n/a

(count:501 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Distal block	Cell Line	Cell type
1	chr2:33170821..33171727-chr2:33294922..33295887,4	MCF-7	breast:
2	chr2:33170290..33173371-chr2:33177841..33180797,5	MCF-7	breast:
3	chr2:32867638..32869505-chr2:32872152..32874163,2	K562	blood:
4	chr2:33170821..33171727-chr2:33294922..33295887,4	MCF-7	breast:
5	chr2:33182647..33184482-chr2:33246726..33248264,2	K562	blood:
6	chr2:33140525..33142379-chr2:33142483..33144109,2	MCF-7	breast:
7	chr2:32820979..32823929-chr2:32834423..32836797,2	K562	blood:
8	chr2:33011574..33013407-chr2:33027866..33029840,2	K562	blood:
9	chr2:33157398..33159754-chr2:33171046..33173165,2	MCF-7	breast:
10	chr2:32829148..32832106-chr2:32854548..32856676,2	K562	blood:
11	chr2:32707680..32710256-chr2:32712755..32715367,2	MCF-7	breast:
12	chr2:33005029..33007920-chr2:33171660..33173627,3	MCF-7	breast:
13	chr2:32907305..32908922-chr2:32911118..32912984,2	MCF-7	breast:
14	chr2:32814817..32817219-chr2:32851666..32854532,2	K562	blood:
15	chr2:32658851..32660649-chr2:32708053..32709653,2	K562	blood:
16	chr17:58156666..58159203-chr2:32815552..32818507,2	MCF-7	breast:
17	chr2:32827771..32830524-chr2:32832345..32835314,2	MCF-7	breast:
18	chr2:32785634..32788035-chr2:32791375..32793905,2	K562	blood:
19	chr2:33290893..33292453-chr2:33292732..33295013,2	K562	blood:
20	chr2:33226021..33228698-chr2:33245175..33247420,2	MCF-7	breast:
21	chr2:32997355..32998574-chr2:33258211..33259533,7	MCF-7	breast:
22	chr2:32704912..32707758-chr2:32715954..32718434,3	K562	blood:
23	chr2:33022760..33024459-chr2:33029393..33031824,3	MCF-7	breast:
24	chr2:32675460..32677596-chr2:32681562..32684315,2	MCF-7	breast:
25	chr2:33165282..33167933-chr2:33169527..33171314,2	MCF-7	breast:
26	chr2:33030285..33032315-chr2:33034314..33037985,3	MCF-7	breast:
27	chr2:33294991..33295910-chr2:33416929..33417799,3	MCF-7	breast:
28	chr2:33170909..33171727-chr2:33294922..33295425,2	MCF-7	breast:
29	chr2:33088950..33092177-chr2:33094530..33098614,3	K562	blood:
30	chr2:32713396..32715355-chr2:32717113..32719991,2	K562	blood:
31	chr2:33294735..33295846-chr2:33311218..33312090,8	MCF-7	breast:
32	chr2:33151354..33152076-chr2:33258319..33259007,2	K562	blood:
33	chr2:32996117..33004192-chr2:33169158..33173614,10	MCF-7	breast:
34	chr2:33170979..33176599-chr2:33287178..33291428,7	MCF-7	breast:
35	chr2:32675460..32677596-chr2:32681562..32684315,2	MCF-7	breast:
36	chr2:33170888..33171729-chr2:33294522..33295845,3	MCF-7	breast:
37	chr2:33257210..33260008-chr2:33260500..33262252,2	MCF-7	breast:
38	chr2:32931543..32933907-chr2:32935131..32937393,2	K562	blood:
39	chr2:32857206..32858906-chr2:32863205..32865583,2	K562	blood:
40	chr2:33001090..33004313-chr2:33170571..33173940,5	MCF-7	breast:
41	chr2:33171736..33178911-chr2:33183801..33187705,9	K562	blood:
42	chr2:33070865..33072906-chr2:33075561..33077812,2	K562	blood:
43	chr2:32998266..32999836-chr2:33000625..33002335,2	MCF-7	breast:
44	chr1:22780784..22781462-chr2:33294993..33295833,2	MCF-7	breast:
45	chr2:33259649..33260621-chr2:33620419..33620988,2	MCF-7	breast:
46	chr2:32876823..32878467-chr2:32880419..32882662,2	K562	blood:
47	chr2:33120235..33122609-chr2:33124113..33127663,3	K562	blood:
48	chr2:32844980..32847933-chr2:32850537..32855123,4	MCF-7	breast:
49	chr2:32820760..32823351-chr2:32824831..32826947,2	MCF-7	breast:
50	chr2:33258883..33261286-chr2:33620166..33622168,2	MCF-7	breast:

(count:107 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTC27-1	chr2:33107994-33108117	XLOC_001418
2	lnc-TTC27-1	chr2:33153303-33153472	XLOC_001418
3	lnc-TTC27-1	chr2:33065837-33066300	XLOC_001418
4	lnc-TTC27-1	chr2:33162095-33162270	XLOC_001418
5	lnc-TTC27-1	chr2:33152194-33152413	XLOC_001418
6	lnc-TTC27-1	chr2:33066080-33066295	XLOC_001418
7	lnc-TTC27-1	chr2:33153303-33153472	NONHSAT070003
8	lnc-TTC27-1	chr2:33152163-33152729	XLOC_001418
9	lnc-TTC27-1	chr2:33152179-33152413	NONHSAT070003
10	lnc-TTC27-1	chr2:33066080-33066300	XLOC_001418
11	lnc-TTC27-1	chr2:33107766-33107893	NONHSAT069999
12	lnc-TTC27-1	chr2:33153931-33153983	NONHSAT070002
13	lnc-TTC27-1	chr2:33107766-33107893	XLOC_001418
14	lnc-TTC27-1	chr2:33123607-33123709	XLOC_001418
15	lnc-TTC27-1	chr2:33162095-33162208	NONHSAT070003
16	lnc-TTC27-1	chr2:33123607-33123709	XLOC_001418
17	lnc-TTC27-1	chr2:33107994-33108117	ENSG00000230876
18	lnc-TTC27-1	chr2:33121992-33122046	ENSG00000230876
19	lnc-TTC27-1	chr2:33107766-33107893	ENSG00000230876
20	lnc-BIRC6-1	chr2:32980634-32980694	NONHSAT069988
21	lnc-TTC27-1	chr2:33152179-33152729	NONHSAT070002
22	lnc-TTC27-1	chr2:33150420-33151756	XLOC_001418
23	lnc-TTC27-1	chr2:33127130-33127190	XLOC_001418
24	lnc-TTC27-1	chr2:33153303-33153472	XLOC_001418
25	lnc-TTC27-1	chr2:33153303-33153472	XLOC_001418
26	lnc-TTC27-1	chr2:33050510-33050577	XLOC_001418
27	lnc-TTC27-1	chr2:33123607-33123709	XLOC_001418
28	lnc-TTC27-1	chr2:33127130-33127190	XLOC_001418
29	lnc-BIRC6-1	chr2:33003924-33005093	NONHSAT069988
30	lnc-TTC27-1	chr2:33152194-33152413	NONHSAT070004
31	lnc-TTC27-1	chr2:33061597-33061801	XLOC_001418
32	lnc-TTC27-1	chr2:33154006-33154206	XLOC_001418
33	lnc-TTC27-1	chr2:33066080-33066300	XLOC_001418
34	lnc-TTC27-1	chr2:33066080-33066300	XLOC_001418
35	lnc-TTC27-1	chr2:33050394-33050577	XLOC_001418
36	lnc-TTC27-1	chr2:33062378-33062472	XLOC_001418
37	lnc-BIRC6-1	chr2:32977111-32977213	NONHSAT069988
38	lnc-TTC27-1	chr2:33170294-33171202	NONHSAT070004
39	lnc-TTC27-1	chr2:33121992-33122046	XLOC_001418
40	lnc-BIRC6-1	chr2:33003924-33005264	NONHSAT069986
41	lnc-TTC27-1	chr2:33066081-33066300	XLOC_001418
42	lnc-BIRC6-1	chr2:32961270-32961397	NONHSAT069987
43	lnc-BIRC6-1	chr2:32980634-32980694	NONHSAT069986
44	lnc-TTC27-1	chr2:33107994-33108117	XLOC_001418
45	lnc-TTC27-1	chr2:33123607-33123709	NONHSAT069999
46	lnc-TTC27-1	chr2:33123607-33123709	ENSG00000230876
47	lnc-TTC27-1	chr2:33127130-33127190	XLOC_001418
48	lnc-TTC27-1	chr2:33127130-33127190	ENSG00000230876
49	lnc-TTC27-1	chr2:33153132-33153190	XLOC_001418
50	lnc-TTC27-1	chr2:33107868-33107893	XLOC_001418

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4765	chr2:32860367-32860388	MIMAT0019916
hsa-miR-558	chr2:32757280-32757298	MIMAT0003222

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	BIRC6	hsa-miR-218-5p	chr2:32843010-32843017
2	BIRC6	hsa-let-7a-5p	chr2:32843468-32843490
3	BIRC6	hsa-miR-34a-5p	chr2:32843220-32843241
4	BIRC6	hsa-let-7b-5p	chr2:32843468-32843490
5	BIRC6	hsa-let-7a-5p	chr2:32843237-32843260
6	BIRC6	hsa-miR-218-5p	chr2:32842996-32843017
7	BIRC6	hsa-let-7b-5p	chr2:32843237-32843260

Variant related genes	Relation type
MIR558	TF binding region
MIR4765	TF binding region
ENSG00000252502	TF binding region
ENSG00000223951	TF binding region
LTBP1	TF binding region
LINC00486	TF binding region
ENSG00000236854	TF binding region
TTC27	TF binding region
BIRC6	TF binding region
ENSG00000206951	TF binding region
MIR558	CpG island
MIR4765	CpG island
ENSG00000252502	CpG island
ENSG00000223951	CpG island
LTBP1	CpG island
LINC00486	CpG island
ENSG00000236854	CpG island
TTC27	CpG island
BIRC6	CpG island
ENSG00000206951	CpG island
ENSG00000018699	chromatin interactions
ENSG00000272716	chromatin interactions
ENSG00000108423	chromatin interactions
ENSG00000230876	chromatin interactions
ENSG00000152683	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000049323	chromatin interactions
ENSG00000265057	chromatin interactions
ENSG00000223951	chromatin interactions
ENSG00000206951	chromatin interactions
ENSG00000185608	chromatin interactions
ENSG00000169764	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000236854	chromatin interactions
ENSG00000267416	chromatin interactions
ENSG00000115760	chromatin interactions
RET	miRNA target sites
RFX1	miRNA target sites
REV3L	miRNA target sites
CCDC19	miRNA target sites
MBNL3	miRNA target sites
GATAD2B	miRNA target sites
CCDC117	miRNA target sites
FOXG1	miRNA target sites
CCDC165	miRNA target sites
POGK	miRNA target sites
HMGA2	miRNA target sites
POGZ	miRNA target sites
MRPL19	miRNA target sites
MBTD1	miRNA target sites
CCDC28A	miRNA target sites
POGLUT1	miRNA target sites
RFFL	miRNA target sites
REST	miRNA target sites

Extended variants
information (count: 27547 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:27547 , 50 per page) page: 1 2 3 4 5 6 7 ... 551

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369798487	chr2:32657108-32657109	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs184510221	chr2:32657125-32657126	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs553361693	chr2:32657127-32657128	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs74177013	chr2:32657136-32657137	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541335087	chr2:32657175-32657176	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs559065430	chr2:32657201-32657202	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs529844604	chr2:32657215-32657216	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs114843311	chr2:32657217-32657218	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs568766785	chr2:32657222-32657223	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs563129822	chr2:32657265-32657266	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs532108021	chr2:32657284-32657285	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs561826603	chr2:32657298-32657299	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs62136290	chr2:32657299-32657300	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs559321182	chr2:32657309-32657310	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs370158056	chr2:32657369-32657370	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs187654616	chr2:32657414-32657415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559909055	chr2:32657422-32657423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548873142	chr2:32657439-32657440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568723838	chr2:32657543-32657544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138134062	chr2:32657556-32657557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551230588	chr2:32657572-32657573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141814219	chr2:32657593-32657594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539945859	chr2:32657597-32657598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192188600	chr2:32657614-32657615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573201372	chr2:32657685-32657686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150161895	chr2:32657715-32657716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138170784	chr2:32657724-32657725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574430674	chr2:32657768-32657769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369807681	chr2:32657786-32657787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115651759	chr2:32657823-32657824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201130128	chr2:32657827-32657828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374021504	chr2:32657828-32657829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537768715	chr2:32657829-32657830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545898015	chr2:32657840-32657841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62136291	chr2:32657854-32657855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559143838	chr2:32657857-32657858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560896671	chr2:32657975-32657976	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs528092247	chr2:32657980-32657981	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs531493508	chr2:32658068-32658069	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79112485	chr2:32658071-32658072	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149554047	chr2:32658128-32658129	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570342566	chr2:32658142-32658143	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531261900	chr2:32658166-32658167	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551269123	chr2:32658207-32658208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536127592	chr2:32658225-32658226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575606649	chr2:32658235-32658236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571074494	chr2:32658237-32658238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539607612	chr2:32658270-32658271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546321153	chr2:32658273-32658274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556014212	chr2:32658314-32658315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD
Autism	22549408	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:12393 , 50 per page) page: 1 2 3 4 5 6 7 ... 248

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32621000-32669800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:32621200-32664600	Weak transcription	Fetal Brain Male	brain
3	chr2:32621600-32693400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:32640800-32663200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:32641200-32664000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:32641200-32664000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:32641400-32660600	Weak transcription	Colonic Mucosa	Colon
8	chr2:32641400-32664200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:32643000-32660000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:32651000-32671600	Weak transcription	Fetal Heart	heart
11	chr2:32651000-32689000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:32651000-32695000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:32651200-32658400	Weak transcription	NH-A	brain
14	chr2:32651200-32661600	Weak transcription	Ovary	ovary
15	chr2:32651200-32661600	Weak transcription	Spleen	Spleen
16	chr2:32651200-32675400	Weak transcription	Pancreas	Pancrea
17	chr2:32651400-32657200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:32651400-32667000	Weak transcription	HMEC	breast
19	chr2:32652200-32664000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:32653200-32660000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:32653200-32671800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr2:32653200-32672000	Strong transcription	Dnd41	blood
23	chr2:32653400-32659000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:32653400-32693000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:32653400-32715400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:32653600-32658400	Weak transcription	Brain Substantia Nigra	brain
27	chr2:32653600-32660400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:32653600-32661600	Weak transcription	Brain Germinal Matrix	brain
29	chr2:32653600-32662200	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:32653600-32662200	Weak transcription	HSMMtube	muscle
31	chr2:32653600-32664000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:32653600-32664000	Weak transcription	Small Intestine	intestine
33	chr2:32653600-32665400	Strong transcription	HepG2	liver
34	chr2:32653600-32666600	Weak transcription	Esophagus	oesophagus
35	chr2:32653600-32666800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:32653600-32666800	Weak transcription	Right Ventricle	heart
37	chr2:32653600-32667000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:32653600-32667200	Weak transcription	Brain Anterior Caudate	brain
39	chr2:32653600-32667200	Weak transcription	Psoas Muscle	Psoas
40	chr2:32653600-32671200	Weak transcription	Stomach Mucosa	stomach
41	chr2:32653600-32687800	Weak transcription	Gastric	stomach
42	chr2:32653600-32688200	Weak transcription	Aorta	Aorta
43	chr2:32654200-32657600	Strong transcription	Primary hematopoietic stem cells	blood
44	chr2:32654200-32664200	Weak transcription	Brain Hippocampus Middle	brain
45	chr2:32654200-32671400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:32654200-32671800	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr2:32654400-32663000	Strong transcription	Primary B cells from cord blood	blood
48	chr2:32654400-32667200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr2:32654400-32671200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:32654400-32671800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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