Variant report

Variant	esv3457028
Chromosome Location	chr2:100101720-100107018
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:100106642-100107333	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:100106704-100107165	K562	blood:	n/a	n/a
3	ARID3A	chr2:100101926-100102141	K562	blood:	n/a	n/a
4	ATF2	chr2:100106467-100107234	GM12878	blood:	n/a	n/a
5	ATF3	chr2:100106345-100106896	K562	blood:	n/a	chr2:100106504-100106513
6	ATF3	chr2:100101921-100102207	K562	blood:	n/a	n/a
7	ATF3	chr2:100106585-100106829	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr2:100106477-100106874	H1-hESC	embryonic stem cell:	n/a	chr2:100106504-100106513
9	ATF3	chr2:100106558-100107268	HepG2	liver:	n/a	n/a
10	ATF3	chr2:100106451-100106995	GM12878	blood:	n/a	chr2:100106504-100106513
11	ATF3	chr2:100106566-100106988	A549	lung:	n/a	n/a
12	ATF3	chr2:100106600-100106832	GM12878	blood:	n/a	n/a
13	ATF3	chr2:100105956-100106296	K562	blood:	n/a	chr2:100106063-100106071
14	ATF3	chr2:100106507-100106988	HepG2	liver:	n/a	n/a
15	BACH1	chr2:100103095-100103239	K562	blood:	n/a	n/a
16	BACH1	chr2:100106288-100107323	K562	blood:	n/a	n/a
17	BACH1	chr2:100105699-100107316	H1-hESC	embryonic stem cell:	n/a	n/a
18	BCL11A	chr2:100106507-100106931	GM12878	blood:	n/a	chr2:100106509-100106522 chr2:100106587-100106600 chr2:100106779-100106792 chr2:100106752-100106765 chr2:100106688-100106701
19	BCL3	chr2:100106288-100106834	GM12878	blood:	n/a	chr2:100106509-100106522 chr2:100106587-100106600 chr2:100106408-100106421 chr2:100106340-100106353 chr2:100106779-100106792 chr2:100106752-100106765 chr2:100106346-100106355 chr2:100106688-100106701
20	BCLAF1	chr2:100106546-100107257	GM12878	blood:	n/a	chr2:100106587-100106600 chr2:100106779-100106792 chr2:100106752-100106765 chr2:100107150-100107163 chr2:100106688-100106701
21	BCLAF1	chr2:100106267-100107231	GM12878	blood:	n/a	chr2:100106509-100106522 chr2:100106587-100106600 chr2:100106408-100106421 chr2:100106340-100106353 chr2:100106779-100106792 chr2:100106752-100106765 chr2:100106346-100106355 chr2:100107150-100107163 chr2:100106688-100106701
22	BCLAF1	chr2:100106213-100106927	K562	blood:	n/a	chr2:100106509-100106522 chr2:100106587-100106600 chr2:100106408-100106421 chr2:100106340-100106353 chr2:100106779-100106792 chr2:100106752-100106765 chr2:100106346-100106355 chr2:100106688-100106701
23	BHLHE40	chr2:100105004-100105678	K562	blood:	n/a	n/a
24	BHLHE40	chr2:100106520-100106893	HepG2	liver:	n/a	chr2:100106719-100106728 chr2:100106720-100106729 chr2:100106714-100106735 chr2:100106718-100106731 chr2:100106721-100106730 chr2:100106720-100106729
25	BHLHE40	chr2:100105532-100107280	HepG2	liver:	n/a	chr2:100106719-100106728 chr2:100106720-100106729 chr2:100106714-100106735 chr2:100106181-100106197 chr2:100106718-100106731 chr2:100106721-100106730 chr2:100106346-100106362 chr2:100106720-100106729 chr2:100106189-100106205
26	BHLHE40	chr2:100102274-100102475	K562	blood:	n/a	n/a
27	BHLHE40	chr2:100106535-100107099	A549	lung:	n/a	chr2:100106719-100106728 chr2:100106720-100106729 chr2:100106714-100106735 chr2:100106718-100106731 chr2:100106721-100106730 chr2:100106720-100106729
28	BHLHE40	chr2:100105969-100107373	K562	blood:	n/a	chr2:100106719-100106728 chr2:100106720-100106729 chr2:100106714-100106735 chr2:100106181-100106197 chr2:100106718-100106731 chr2:100106721-100106730 chr2:100106346-100106362 chr2:100106720-100106729 chr2:100106189-100106205
29	BHLHE40	chr2:100106446-100106948	HepG2	liver:	n/a	chr2:100106719-100106728 chr2:100106720-100106729 chr2:100106714-100106735 chr2:100106718-100106731 chr2:100106721-100106730 chr2:100106720-100106729
30	BHLHE40	chr2:100105996-100107238	GM12878	blood:	n/a	chr2:100106719-100106728 chr2:100106720-100106729 chr2:100106714-100106735 chr2:100106181-100106197 chr2:100106718-100106731 chr2:100106721-100106730 chr2:100106346-100106362 chr2:100106720-100106729 chr2:100106189-100106205
31	BRCA1	chr2:100106654-100107013	HepG2	liver:	n/a	n/a
32	BRCA1	chr2:100106642-100106788	H1-hESC	embryonic stem cell:	n/a	n/a
33	BRCA1	chr2:100106642-100107258	Hela-S3	cervix:	n/a	n/a
34	CBX3	chr2:100106595-100107185	K562	blood:	n/a	n/a
35	CBX3	chr2:100106558-100107241	K562	blood:	n/a	n/a
36	CCNT2	chr2:100105647-100107150	K562	blood:	n/a	chr2:100106484-100106493 chr2:100106037-100106046 chr2:100106667-100106676 chr2:100106338-100106347 chr2:100106151-100106160 chr2:100106545-100106554
37	CEBPB	chr2:100106902-100107093	HepG2	liver:	n/a	n/a
38	CEBPB	chr2:100106904-100107185	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr2:100106677-100107907	HepG2	liver:	n/a	chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107727-100107740 chr2:100107727-100107738 chr2:100107727-100107740
40	CEBPB	chr2:100105985-100106159	IMR90	lung:	n/a	chr2:100106054-100106067
41	CEBPB	chr2:100105858-100107896	Hela-S3	cervix:	n/a	chr2:100107729-100107738 chr2:100107729-100107738 chr2:100106054-100106067 chr2:100107729-100107738 chr2:100107727-100107740 chr2:100107727-100107738 chr2:100107727-100107740
42	CEBPB	chr2:100106813-100107879	K562	blood:	n/a	chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107727-100107740 chr2:100107727-100107738 chr2:100107727-100107740
43	CEBPB	chr2:100106712-100107908	IMR90	lung:	n/a	chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107727-100107740 chr2:100107727-100107738 chr2:100107727-100107740
44	CEBPB	chr2:100106710-100107185	A549	lung:	n/a	n/a
45	CEBPB	chr2:100106667-100107160	K562	blood:	n/a	n/a
46	CEBPB	chr2:100106746-100107307	A549	lung:	n/a	n/a
47	CEBPB	chr2:100105545-100107198	HepG2	liver:	n/a	chr2:100106054-100106067
48	CEBPB	chr2:100105924-100106131	HepG2	liver:	n/a	chr2:100106054-100106067
49	CEBPB	chr2:100105884-100106238	HepG2	liver:	n/a	chr2:100106054-100106067
50	CEBPB	chr2:100105920-100106198	K562	blood:	n/a	chr2:100106054-100106067

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:100106981-100107031	ECC-1	luminal epithelium:	n/a
2	chr2:100106981-100107031	ECC-1	luminal epithelium:	n/a
3	chr2:100106981-100107031	SKMC	muscle:	n/a
4	chr2:100106285-100106335	HNPCEpiC	eye:	n/a
5	chr2:100106981-100107031	GM12892	blood:	n/a
6	chr2:100106981-100107031	LNCaP	prostate:	n/a
7	chr2:100105657-100105707	IMR90	lung:	fetal
8	chr2:100106285-100106335	LNCaP	prostate:	n/a
9	chr2:100105657-100105707	HepG2	liver:	n/a
10	chr2:100106285-100106335	HCT-116	colon:	n/a
11	chr2:100106981-100107031	SK-N-SH_RA	brain:	n/a
12	chr2:100106285-100106335	ProgFib	skin:	n/a
13	chr2:100106981-100107031	ProgFib	skin:	n/a
14	chr2:100105657-100105707	K562	blood:	n/a
15	chr2:100106147-100106197	H1-hESC	embryonic stem cell:	embryo
16	chr2:100106285-100106335	Caco-2	colon:	n/a
17	chr2:100106147-100106197	ovcar-3	ovarian:	n/a
18	chr2:100106285-100106335	CMK	blood:	n/a
19	chr2:100106981-100107031	HEK293	kidney:	embryo
20	chr2:100106147-100106197	AG09319	gingival:	n/a
21	chr2:100106981-100107031	NHDF-neo	bronchial:	n/a
22	chr2:100106147-100106197	Jurkat	blood:	n/a
23	chr2:100106981-100107031	HRCEpiC	kidney:	n/a
24	chr2:100106285-100106335	Hela-S3	cervix:	n/a
25	chr2:100106285-100106335	NB4	blood:	n/a
26	chr2:100106147-100106197	SK-N-MC	brain:	n/a
27	chr2:100106981-100107031	K562	blood:	n/a
28	chr2:100106147-100106197	GM12892	blood:	n/a
29	chr2:100106285-100106335	BJ	skin:	n/a
30	chr2:100106147-100106197	HCM	heart:	n/a
31	chr2:100105657-100105707	NT2-D1	testis:	n/a
32	chr2:100106147-100106197	AG04449	skin:	fetal
33	chr2:100106981-100107031	T-47D	breast:	n/a
34	chr2:100105657-100105707	SKMC	muscle:	n/a
35	chr2:100106981-100107031	PFSK-1	brain:	n/a
36	chr2:100106981-100107031	HCM	heart:	n/a
37	chr2:100106285-100106335	AG04450	lung:	fetal
38	chr2:100105657-100105707	AG04449	skin:	fetal
39	chr2:100106285-100106335	NHBE	bronchial:	n/a
40	chr2:100105657-100105707	Jurkat	blood:	n/a
41	chr2:100106285-100106335	A549	lung:	n/a
42	chr2:100106981-100107031	HEEpiC	esophagus:	n/a
43	chr2:100106285-100106335	BE2_C	brain:	n/a
44	chr2:100105657-100105707	NHDF-neo	bronchial:	n/a
45	chr2:100106147-100106197	NHBE	bronchial:	n/a
46	chr2:100105657-100105707	ovcar-3	ovarian:	n/a
47	chr2:100106285-100106335	MCF10A-Er-Src	breast:	n/a
48	chr2:100106285-100106335	HUVEC	blood vessel:	n/a
49	chr2:100106147-100106197	BE2_C	brain:	n/a
50	chr2:100106981-100107031	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:100104879..100106389-chr2:100120710..100122893,2	MCF-7	breast:
2	chr2:99952384..99954745-chr2:100101155..100103970,2	K562	blood:
3	chr2:100045644..100048567-chr2:100103283..100105124,2	K562	blood:
4	chr2:100064922..100067755-chr2:100103657..100105818,3	MCF-7	breast:
5	chr15:76603305..76604106-chr2:100105951..100106601,2	Hela-S3	cervix:
6	chr2:99952415..99954577-chr2:100101593..100103318,2	MCF-7	breast:
7	chr2:100106074..100106604-chr6:43021248..43021884,2	Hela-S3	cervix:
8	chr2:99951055..99957153-chr2:100104418..100108530,14	K562	blood:
9	chr2:100075556..100080404-chr2:100103648..100108163,7	K562	blood:
10	chr2:100077312..100079121-chr2:100100989..100102811,2	K562	blood:
11	chr2:99951256..99955616-chr2:100104663..100107649,9	K562	blood:
12	chr2:99796371..99799059-chr2:100100777..100103682,2	MCF-7	breast:
13	chr2:100103127..100105220-chr2:100105235..100107072,2	MCF-7	breast:
14	chr2:99950963..99955972-chr2:100104881..100108306,7	MCF-7	breast:
15	chr11:63580406..63581266-chr2:100105797..100106443,2	MCF-7	breast:
16	chr2:100019850..100022413-chr2:100104870..100107869,3	MCF-7	breast:
17	chr2:100100281..100102788-chr2:100105250..100107935,2	MCF-7	breast:
18	chr2:99950324..99955285-chr2:100104603..100108030,8	MCF-7	breast:
19	chr2:100092416..100102947-chr2:100103557..100108181,19	MCF-7	breast:
20	chr2:99796217..99799127-chr2:100105224..100108883,4	K562	blood:
21	chr2:99951551..99954108-chr2:100100091..100102381,2	K562	blood:
22	chr2:99485026..99487433-chr2:100105196..100107704,3	MCF-7	breast:
23	chr2:100099713..100102517-chr2:100102817..100104971,3	MCF-7	breast:
24	chr2:100019781..100021613-chr2:100105810..100107711,2	MCF-7	breast:
25	chr2:100104533..100107300-chr2:100936927..100940750,3	MCF-7	breast:
26	chr2:100091037..100094858-chr2:100099869..100102767,4	K562	blood:
27	chr2:100011720..100013891-chr2:100102274..100104165,2	K562	blood:
28	chr2:100091970..100094649-chr2:100104238..100106048,2	MCF-7	breast:
29	chr2:100099713..100102517-chr2:100102817..100104971,3	MCF-7	breast:
30	chr2:100077312..100079751-chr2:100099970..100102811,3	K562	blood:
31	chr2:100059011..100059845-chr2:100106953..100107584,3	MCF-7	breast:
32	chr2:99796217..99798600-chr2:100104908..100107681,3	K562	blood:

Variant related genes	Relation type
REV1	TF binding region
REV1	CpG island
ENSG00000044090	chromatin interactions
ENSG00000135945	chromatin interactions
ENSG00000196872	chromatin interactions
ENSG00000140374	chromatin interactions
ENSG00000168005	chromatin interactions
ENSG00000158417	chromatin interactions
ENSG00000185414	chromatin interactions
ENSG00000273306	chromatin interactions
ENSG00000170500	chromatin interactions
ENSG00000158411	chromatin interactions
ENSG00000115514	chromatin interactions
ENSG00000241962	chromatin interactions

Extended variants
information (count: 177 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386648494	chr2:100101758-100101759	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs553540104	chr2:100101759-100101760	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs4143760	chr2:100101762-100101763	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs561385235	chr2:100101788-100101789	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs539259691	chr2:100101813-100101814	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs556394665	chr2:100101825-100101826	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs545124537	chr2:100101839-100101840	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs10179697	chr2:100101851-100101852	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs544601925	chr2:100102005-100102006	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs138841435	chr2:100102079-100102080	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs184682373	chr2:100102080-100102081	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs574985137	chr2:100102093-100102094	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs565745686	chr2:100102121-100102122	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs540773197	chr2:100102209-100102210	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs190218205	chr2:100102221-100102222	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs532694624	chr2:100102232-100102233	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs546105608	chr2:100102303-100102304	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs148824896	chr2:100102337-100102338	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs59123260	chr2:100102341-100102342	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs192705913	chr2:100102366-100102367	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs531908399	chr2:100102369-100102370	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs547777985	chr2:100102393-100102394	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs376111217	chr2:100102411-100102412	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs527298909	chr2:100102452-100102453	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs547042349	chr2:100102453-100102454	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs113350220	chr2:100102480-100102481	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs184729389	chr2:100102483-100102484	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs150398672	chr2:100102489-100102490	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs569911331	chr2:100102534-100102535	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs535796852	chr2:100102583-100102584	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs554995487	chr2:100102604-100102605	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs189243812	chr2:100102657-100102658	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs372997350	chr2:100102685-100102686	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs552795356	chr2:100102729-100102730	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs534190496	chr2:100102731-100102732	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs554213348	chr2:100102768-100102769	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs577298496	chr2:100102777-100102778	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs7560795	chr2:100102790-100102791	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs562984963	chr2:100102848-100102849	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs576317071	chr2:100102852-100102853	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs538495098	chr2:100102914-100102915	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs1839666	chr2:100102942-100102943	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs180747300	chr2:100102977-100102978	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs527265141	chr2:100102982-100102983	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs543815382	chr2:100102990-100102991	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs60272769	chr2:100102991-100102992	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs143931385	chr2:100102998-100102999	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs36112989	chr2:100103004-100103005	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs185000737	chr2:100103070-100103071	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs564193112	chr2:100103171-100103172	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:746 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100075200-100103000	Weak transcription	Hela-S3	cervix
2	chr2:100076200-100105000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:100076600-100104200	Weak transcription	NHLF	lung
4	chr2:100078800-100103000	Weak transcription	Primary B cells from cord blood	blood
5	chr2:100078800-100105000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:100079200-100104000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:100080400-100103200	Weak transcription	Fetal Stomach	stomach
8	chr2:100080800-100103200	Weak transcription	HSMM	muscle
9	chr2:100085600-100103000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:100086000-100102000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:100086400-100102000	Weak transcription	Thymus	Thymus
12	chr2:100088000-100104800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:100089600-100102200	Weak transcription	Fetal Thymus	thymus
14	chr2:100090800-100101800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:100091400-100103200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:100091800-100103400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:100092600-100103600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:100092600-100104200	Weak transcription	Osteobl	bone
19	chr2:100092800-100103600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:100092800-100104600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr2:100092800-100105000	Weak transcription	Placenta	Placenta
22	chr2:100093800-100102000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:100094000-100103400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr2:100094800-100104800	Weak transcription	Colonic Mucosa	Colon
25	chr2:100095200-100103400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr2:100095400-100103400	Weak transcription	HUVEC	blood vessel
27	chr2:100095600-100103000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:100095600-100103400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr2:100095600-100103600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr2:100095600-100103600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr2:100096600-100101800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:100096800-100102400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:100097000-100102200	Weak transcription	Small Intestine	intestine
34	chr2:100097200-100103000	Weak transcription	NH-A	brain
35	chr2:100097200-100104000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:100097200-100104200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:100097200-100105000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:100097600-100101800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:100097800-100103200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr2:100098000-100103200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr2:100098600-100101800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:100098600-100105200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:100098600-100105200	Weak transcription	Gastric	stomach
44	chr2:100098800-100102200	Weak transcription	Lung	lung
45	chr2:100098800-100102400	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:100098800-100102400	Weak transcription	Fetal Muscle Leg	muscle
47	chr2:100098800-100103000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr2:100098800-100103000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:100098800-100103000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:100098800-100103200	Weak transcription	Adipose Nuclei	Adipose

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