Variant report

Variant	esv2757798
Chromosome Location	chr2:55747239-55981074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3682)
CpG islands
(count:2139)
Chromatin interactive
region (count:214)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:3682 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:55808592-55808933	K562	blood:	n/a	n/a
2	ARID3A	chr2:55808595-55808913	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:55817957-55818252	K562	blood:	n/a	n/a
4	ARID3A	chr2:55847400-55847606	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:55842596-55842818	K562	blood:	n/a	n/a
6	ARID3A	chr2:55842471-55842593	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:55920674-55921347	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:55845957-55846135	K562	blood:	n/a	n/a
9	ARID3A	chr2:55945346-55945659	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:55920973-55921350	K562	blood:	n/a	n/a
11	ARID3A	chr2:55942435-55942557	HepG2	liver:	n/a	n/a
12	ATF1	chr2:55920842-55921225	K562	blood:	n/a	n/a
13	ATF1	chr2:55844615-55845343	K562	blood:	n/a	n/a
14	ATF2	chr2:55920708-55921249	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr2:55844577-55845303	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr2:55844540-55845656	GM12878	blood:	n/a	n/a
17	ATF2	chr2:55817903-55818283	GM12878	blood:	n/a	n/a
18	ATF2	chr2:55844544-55845273	GM12878	blood:	n/a	n/a
19	ATF2	chr2:55920700-55921352	GM12878	blood:	n/a	n/a
20	ATF2	chr2:55844560-55845376	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF3	chr2:55920763-55921385	A549	lung:	n/a	n/a
22	ATF3	chr2:55844469-55845383	A549	lung:	n/a	n/a
23	ATF3	chr2:55920613-55921267	A549	lung:	n/a	n/a
24	ATF3	chr2:55844198-55845416	A549	lung:	n/a	n/a
25	BACH1	chr2:55844746-55845190	H1-hESC	embryonic stem cell:	n/a	n/a
26	BATF	chr2:55817930-55818245	GM12878	blood:	n/a	chr2:55818111-55818122 chr2:55818093-55818104 chr2:55818132-55818142 chr2:55818127-55818138
27	BATF	chr2:55796241-55796430	GM12878	blood:	n/a	n/a
28	BATF	chr2:55817956-55818323	GM12878	blood:	n/a	chr2:55818111-55818122 chr2:55818093-55818104 chr2:55818132-55818142 chr2:55818127-55818138
29	BCL11A	chr2:55796291-55796432	GM12878	blood:	n/a	n/a
30	BCL11A	chr2:55817967-55818284	GM12878	blood:	n/a	chr2:55818131-55818140
31	BCL3	chr2:55844417-55845427	A549	lung:	n/a	chr2:55845166-55845175
32	BCL3	chr2:55905107-55905379	GM12878	blood:	n/a	n/a
33	BCL3	chr2:55920594-55921316	A549	lung:	n/a	chr2:55921017-55921026
34	BCL3	chr2:55844511-55845911	A549	lung:	n/a	chr2:55845166-55845175
35	BCL3	chr2:55746363-55747496	A549	lung:	n/a	chr2:55746733-55746742
36	BCL3	chr2:55831193-55831515	GM12878	blood:	n/a	n/a
37	BCL3	chr2:55920529-55921291	A549	lung:	n/a	chr2:55921017-55921026
38	BCLAF1	chr2:55920670-55921264	GM12878	blood:	n/a	chr2:55921017-55921026
39	BCLAF1	chr2:55920680-55921228	GM12878	blood:	n/a	chr2:55921017-55921026
40	BCLAF1	chr2:55844532-55845533	GM12878	blood:	n/a	chr2:55845166-55845175
41	BCLAF1	chr2:55844522-55845387	GM12878	blood:	n/a	chr2:55845166-55845175
42	BHLHE40	chr2:55844675-55844930	HepG2	liver:	n/a	n/a
43	BHLHE40	chr2:55843607-55844198	GM12878	blood:	n/a	n/a
44	BHLHE40	chr2:55932472-55932647	HepG2	liver:	n/a	n/a
45	BHLHE40	chr2:55772275-55772407	GM12878	blood:	n/a	n/a
46	BHLHE40	chr2:55847380-55847566	GM12878	blood:	n/a	n/a
47	BHLHE40	chr2:55843614-55845232	HepG2	liver:	n/a	n/a
48	BHLHE40	chr2:55843601-55846225	K562	blood:	n/a	n/a
49	BHLHE40	chr2:55945473-55945569	K562	blood:	n/a	n/a
50	BHLHE40	chr2:55920705-55921206	K562	blood:	n/a	n/a

(count:2139 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:55920477-55920527	CMK	blood:	n/a
2	chr2:55844294-55844344	ProgFib	skin:	n/a
3	chr2:55920613-55920663	NHBE	bronchial:	n/a
4	chr2:55844609-55844659	HCF	heart:	n/a
5	chr2:55920477-55920527	CMK	blood:	n/a
6	chr2:55844294-55844344	ProgFib	skin:	n/a
7	chr2:55920613-55920663	NHBE	bronchial:	n/a
8	chr2:55844609-55844659	HCF	heart:	n/a
9	chr2:55844294-55844344	H1-hESC	embryonic stem cell:	embryo
10	chr2:55921045-55921095	H1-hESC	embryonic stem cell:	embryo
11	chr2:55847483-55847533	ECC-1	luminal epithelium:	n/a
12	chr2:55776707-55776757	GM19239	blood:	n/a
13	chr2:55920781-55920831	HRCEpiC	kidney:	n/a
14	chr2:55923768-55923818	NHBE	bronchial:	n/a
15	chr2:55845619-55845669	A549	lung:	n/a
16	chr2:55923768-55923818	SKMC	muscle:	n/a
17	chr2:55844609-55844659	SKMC	muscle:	n/a
18	chr2:55921061-55921111	HEEpiC	esophagus:	n/a
19	chr2:55921064-55921114	HRE	kidney:	n/a
20	chr2:55919983-55920033	Hela-S3	cervix:	n/a
21	chr2:55841452-55841502	HEEpiC	esophagus:	n/a
22	chr2:55843804-55843854	AG09319	gingival:	n/a
23	chr2:55845289-55845339	GM12891	blood:	n/a
24	chr2:55845289-55845339	GM19239	blood:	n/a
25	chr2:55921094-55921144	HCT-116	colon:	n/a
26	chr2:55920564-55920614	AG10803	skin:	n/a
27	chr2:55921045-55921095	HRPEpiC	eye:	n/a
28	chr2:55920477-55920527	HUVEC	blood vessel:	n/a
29	chr2:55844294-55844344	HCF	heart:	n/a
30	chr2:55845713-55845763	HRCEpiC	kidney:	n/a
31	chr2:55843804-55843854	GM06990	blood:	n/a
32	chr2:55747651-55747701	Hela-S3	cervix:	n/a
33	chr2:55844806-55844856	HCT-116	colon:	n/a
34	chr2:55921863-55921913	A549	lung:	n/a
35	chr2:55845736-55845786	BJ	skin:	n/a
36	chr2:55845713-55845763	HEK293	kidney:	embryo
37	chr2:55845713-55845763	PrEC	prostate:	n/a
38	chr2:55844522-55844572	NH-A	brain:	n/a
39	chr2:55844522-55844572	NHDF-neo	bronchial:	n/a
40	chr2:55923768-55923818	AG04449	skin:	fetal
41	chr2:55845713-55845763	NB4	blood:	n/a
42	chr2:55921064-55921114	HL-60	blood:	n/a
43	chr2:55921125-55921175	AG09319	gingival:	n/a
44	chr2:55845713-55845763	HNPCEpiC	eye:	n/a
45	chr2:55747775-55747825	MCF-7	breast:	n/a
46	chr2:55747270-55747320	MCF-7	breast:	n/a
47	chr2:55844294-55844344	HCM	heart:	n/a
48	chr2:55845064-55845114	NT2-D1	testis:	n/a
49	chr2:55747270-55747320	GM12891	blood:	n/a
50	chr2:55747651-55747701	Jurkat	blood:	n/a

(count:214 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr2:55810812..55813638-chr2:55842643..55845529,3	MCF-7	breast:
2	chr2:55645913..55647717-chr2:55840630..55843041,2	K562	blood:
3	chr2:55924095..55926502-chr2:55928603..55930302,2	K562	blood:
4	chr2:55818907..55824295-chr2:55841098..55846037,6	MCF-7	breast:
5	chr2:55952706..55954305-chr2:55954375..55956858,2	MCF-7	breast:
6	chr2:55845243..55846002-chr20:42805742..42806520,2	Hela-S3	cervix:
7	chr2:55903431..55905646-chr2:55905764..55908923,3	K562	blood:
8	chr2:55507639..55510296-chr2:55843126..55844712,2	K562	blood:
9	chr2:55857547..55860047-chr2:55862706..55864207,2	MCF-7	breast:
10	chr2:55891954..55894358-chr2:55898574..55900895,2	K562	blood:
11	chr2:55843805..55846748-chr2:55896170..55899222,4	MCF-7	breast:
12	chr2:55900367..55902394-chr2:55919082..55920612,2	MCF-7	breast:
13	chr2:55941511..55943436-chr2:55949873..55952751,2	K562	blood:
14	chr2:55827514..55830372-chr2:55836467..55838668,2	MCF-7	breast:
15	chr2:55893661..55895607-chr2:55919705..55921512,2	K562	blood:
16	chr2:55890547..55892839-chr2:55908611..55911224,2	K562	blood:
17	chr2:55496021..55498315-chr2:55843389..55845953,2	K562	blood:
18	chr2:55847894..55850021-chr2:55856235..55857780,2	MCF-7	breast:
19	chr2:55813293..55814824-chr2:55818333..55821254,2	MCF-7	breast:
20	chr2:55908037..55910192-chr2:55913450..55914973,2	K562	blood:
21	chr2:55915939..55918877-chr2:55919426..55922860,4	MCF-7	breast:
22	chr2:55919171..55920952-chr2:55938967..55941895,2	MCF-7	breast:
23	chr2:55747318..55749114-chr2:55750754..55752618,2	MCF-7	breast:
24	chr2:55805782..55807351-chr2:55817870..55819389,2	K562	blood:
25	chr2:55802504..55805545-chr2:55806244..55808758,3	K562	blood:
26	chr2:55754380..55757181-chr2:55762794..55765251,2	K562	blood:
27	chr2:55784657..55786686-chr2:55790536..55792800,2	K562	blood:
28	chr2:54201384..54203059-chr2:55863159..55864990,2	K562	blood:
29	chr2:55939884..55941673-chr2:55943999..55946003,2	K562	blood:
30	chr2:55901517..55904388-chr2:55919135..55920931,2	K562	blood:
31	chr2:55813293..55814824-chr2:55818333..55821254,2	MCF-7	breast:
32	chr2:55915025..55917034-chr2:55917366..55919436,2	MCF-7	breast:
33	chr2:55939884..55941673-chr2:55943999..55946003,2	K562	blood:
34	chr2:55823780..55826552-chr2:55827619..55830389,2	K562	blood:
35	chr2:55977456..55979325-chr2:56414162..56415751,2	K562	blood:
36	chr2:55815692..55818245-chr2:55843695..55846451,3	K562	blood:
37	chr2:55771544..55774381-chr2:55776715..55779906,3	K562	blood:
38	chr2:55846036..55847829-chr2:55873560..55876152,3	K562	blood:
39	chr2:55908913..55911082-chr2:55915955..55917919,2	K562	blood:
40	chr2:55784657..55786686-chr2:55790536..55792800,2	K562	blood:
41	chr2:55872045..55873893-chr2:55874188..55876944,2	K562	blood:
42	chr2:55867632..55869380-chr2:55872094..55873711,2	K562	blood:
43	chr2:55910858..55913187-chr2:55918020..55920146,2	K562	blood:
44	chr2:55919843..55923832-chr2:55924839..55929047,4	K562	blood:
45	chr2:55818159..55820480-chr2:55842688..55844777,2	K562	blood:
46	chr2:55815165..55817654-chr2:55819335..55821312,2	K562	blood:
47	chr2:55924095..55926502-chr2:55928603..55930302,2	K562	blood:
48	chr2:55915025..55917034-chr2:55917366..55919436,2	MCF-7	breast:
49	chr2:55844556..55846251-chr2:62113884..62115938,2	K562	blood:
50	chr2:55747318..55749114-chr2:55750754..55752618,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC104-3	chr2:55845044-55845508	ENSG00000272606.1
2	lnc-CCDC104-3	chr2:55845115-55846902	NONHSAT070800
3	lnc-PNPT1-1	chr2:55858185-55858573	XLOC_002099
4	lnc-CCDC104-4	chr2:55852073-55854069	NONHSAT070801
5	lnc-CCDC104-6	chr2:55927183-55927442	NONHSAT070804
6	lnc-CCDC104-4	chr2:55858184-55858573	NONHSAT070801
7	lnc-PNPT1-1	chr2:55852073-55854069	XLOC_002099

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SMEK2	hsa-miR-16-5p	chr2:55776024-55776045
2	SMEK2	hsa-miR-106b-5p	chr2:55776362-55776382

Variant related genes	Relation type
PNPT1	TF binding region
ENSG00000212175	TF binding region
SMEK2	TF binding region
ENSG00000272606	TF binding region
CCDC104	TF binding region
PNPT1	CpG island
ENSG00000212175	CpG island
SMEK2	CpG island
ENSG00000272606	CpG island
CCDC104	CpG island
ENSG00000160602	chromatin interactions
ENSG00000143977	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000272606	chromatin interactions
ENSG00000075624	chromatin interactions
ENSG00000162997	chromatin interactions
ENSG00000163001	chromatin interactions
ENSG00000128989	chromatin interactions
ENSG00000212175	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000207798	chromatin interactions
ENSG00000138035	chromatin interactions
ENSG00000115484	chromatin interactions
ENSG00000224960	chromatin interactions
ENSG00000115355	chromatin interactions
ENSG00000143947	chromatin interactions
ENSG00000261766	chromatin interactions
ENSG00000178188	chromatin interactions
ENSG00000138041	chromatin interactions
ENSG00000160606	chromatin interactions
ENSG00000238619	chromatin interactions
ENSG00000162994	chromatin interactions
ENSG00000156384	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000173163	chromatin interactions
ENSG00000115310	chromatin interactions
ENSG00000085760	chromatin interactions
FOXO3	miRNA target sites
FAM46A	miRNA target sites

Extended variants
information (count: 10251 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:10251 , 50 per page) page: 1 2 3 4 5 6 7 ... 206

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578032463	chr2:55747252-55747253	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs534433978	chr2:55747266-55747267	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs554420356	chr2:55747271-55747272	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs370630457	chr2:55747275-55747276	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs74509534	chr2:55747280-55747281	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs181285246	chr2:55747304-55747305	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs186337747	chr2:55747314-55747315	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs143660724	chr2:55747319-55747320	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs190940657	chr2:55747322-55747323	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs565017702	chr2:55747350-55747351	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs77505715	chr2:55747389-55747390	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs138256997	chr2:55747421-55747422	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs368695071	chr2:55747423-55747424	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs76100373	chr2:55747471-55747472	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs371099272	chr2:55747491-55747492	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs549677372	chr2:55747492-55747493	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs569843533	chr2:55747494-55747495	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs570548162	chr2:55747515-55747516	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs538284916	chr2:55747519-55747520	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs74772439	chr2:55747532-55747533	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs531863679	chr2:55747535-55747536	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs182196437	chr2:55747602-55747603	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs372801727	chr2:55747624-55747625	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs376982895	chr2:55747652-55747653	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs554260624	chr2:55747681-55747682	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs574293030	chr2:55747697-55747698	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs536830725	chr2:55747739-55747740	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs187867993	chr2:55747814-55747815	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs576637486	chr2:55747826-55747827	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs545021667	chr2:55747896-55747897	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs552059433	chr2:55747901-55747902	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs79368719	chr2:55747931-55747932	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs142760588	chr2:55747935-55747936	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs190833662	chr2:55747982-55747983	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs529879022	chr2:55747985-55747986	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs374100157	chr2:55748004-55748005	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs543210007	chr2:55748005-55748006	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs563628865	chr2:55748007-55748008	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs532290917	chr2:55748016-55748017	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs552417656	chr2:55748019-55748020	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs183128225	chr2:55748021-55748022	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs527645132	chr2:55748073-55748074	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs145177056	chr2:55748083-55748084	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs567756646	chr2:55748089-55748090	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs78547789	chr2:55748093-55748094	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs188472859	chr2:55748115-55748116	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs570195311	chr2:55748160-55748161	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs193023237	chr2:55748173-55748174	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs184827156	chr2:55748199-55748200	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs17278044	chr2:55748217-55748218	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:89)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:6624 , 50 per page) page: 1 2 3 4 5 6 7 ... 133

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55745200-55747600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:55745200-55748200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr2:55745400-55747600	Active TSS	Brain Hippocampus Middle	brain
4	chr2:55745400-55747800	Active TSS	A549	lung
5	chr2:55745600-55748200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:55745800-55747400	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr2:55745800-55747400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr2:55745800-55747400	Active TSS	Brain Angular Gyrus	brain
9	chr2:55745800-55747400	Active TSS	Fetal Brain Female	brain
10	chr2:55745800-55747400	Active TSS	NH-A	brain
11	chr2:55745800-55747600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr2:55745800-55747600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:55745800-55747600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:55745800-55747600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:55745800-55747600	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr2:55745800-55747600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:55745800-55747600	Active TSS	Duodenum Mucosa	Duodenum
18	chr2:55745800-55747600	Active TSS	Fetal Intestine Small	intestine
19	chr2:55745800-55747600	Active TSS	Fetal Kidney	kidney
20	chr2:55745800-55747600	Active TSS	Rectal Smooth Muscle	rectum
21	chr2:55745800-55747600	Active TSS	Thymus	Thymus
22	chr2:55745800-55747600	Active TSS	HMEC	breast
23	chr2:55745800-55747800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:55745800-55747800	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr2:55745800-55747800	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr2:55745800-55747800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:55745800-55747800	Active TSS	GM12878-XiMat	blood
28	chr2:55745800-55747800	Active TSS	K562	blood
29	chr2:55745800-55748000	Active TSS	H1 Cell Line	embryonic stem cell
30	chr2:55745800-55748000	Active TSS	H9 Cell Line	embryonic stem cell
31	chr2:55745800-55748000	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr2:55745800-55748000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:55745800-55748000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:55745800-55748000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:55745800-55748000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:55745800-55748000	Active TSS	Aorta	Aorta
37	chr2:55745800-55748000	Active TSS	Brain Cingulate Gyrus	brain
38	chr2:55745800-55748000	Active TSS	Brain Substantia Nigra	brain
39	chr2:55745800-55748000	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr2:55745800-55748000	Active TSS	Ovary	ovary
41	chr2:55745800-55748000	Active TSS	Psoas Muscle	Psoas
42	chr2:55745800-55748000	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr2:55745800-55748000	Active TSS	Right Ventricle	heart
44	chr2:55745800-55748000	Active TSS	NHDF-Ad	bronchial
45	chr2:55745800-55748200	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr2:55745800-55748200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:55745800-55748200	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr2:55745800-55748200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:55745800-55748200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:55745800-55748200	Active TSS	Right Atrium	heart

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