Variant report

Variant	esv3425017
Chromosome Location	chr2:54196873-54199421
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:597)
CpG islands
(count:672)
Chromatin interactive
region (count:31)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:597 , 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	chr2:54198614-54199019	K562	blood:	n/a	n/a
2	ARID3A	chr2:54198030-54198608	HepG2	liver:	n/a	n/a
3	ATF2	chr2:54198241-54198638	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr2:54198177-54198550	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr2:54198061-54198595	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr2:54197075-54197263	K562	blood:	n/a	n/a
7	BHLHE40	chr2:54198014-54198518	K562	blood:	n/a	n/a
8	BHLHE40	chr2:54196508-54196936	K562	blood:	n/a	n/a
9	BHLHE40	chr2:54197499-54197730	K562	blood:	n/a	n/a
10	BHLHE40	chr2:54198012-54198171	GM12878	blood:	n/a	n/a
11	BRCA1	chr2:54198086-54198230	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr2:54197332-54197355	HepG2	liver:	n/a	n/a
13	BRCA1	chr2:54198043-54198511	HepG2	liver:	n/a	n/a
14	CBX3	chr2:54197920-54198597	K562	blood:	n/a	n/a
15	CCNT2	chr2:54197273-54198550	K562	blood:	n/a	chr2:54197374-54197383
16	CEBPB	chr2:54197499-54197509	HepG2	liver:	n/a	n/a
17	CEBPB	chr2:54197035-54197049	HepG2	liver:	n/a	n/a
18	CEBPB	chr2:54196460-54197128	K562	blood:	n/a	chr2:54196711-54196723
19	CEBPB	chr2:54196934-54196935	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr2:54196275-54196883	A549	lung:	n/a	chr2:54196711-54196723
21	CEBPB	chr2:54196423-54197188	A549	lung:	n/a	chr2:54196711-54196723
22	CEBPD	chr2:54197961-54198520	HepG2	liver:	n/a	n/a
23	CEBPD	chr2:54197955-54198583	HepG2	liver:	n/a	n/a
24	CHD1	chr2:54195365-54199244	IMR90	lung:	n/a	n/a
25	CHD1	chr2:54196785-54197817	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD1	chr2:54197145-54198091	GM12878	blood:	n/a	n/a
27	CHD1	chr2:54198378-54198986	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD1	chr2:54198411-54198555	GM12878	blood:	n/a	n/a
29	CHD2	chr2:54197580-54197599	HepG2	liver:	n/a	n/a
30	CHD2	chr2:54197341-54197525	GM12878	blood:	n/a	n/a
31	CHD2	chr2:54198037-54198914	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr2:54197997-54198479	GM12878	blood:	n/a	n/a
33	CHD2	chr2:54198003-54198626	HepG2	liver:	n/a	n/a
34	CHD2	chr2:54198015-54198051	K562	blood:	n/a	n/a
35	CHD2	chr2:54197678-54198457	Hela-S3	cervix:	n/a	n/a
36	CREB1	chr2:54197965-54198522	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr2:54197327-54198538	A549	lung:	n/a	n/a
38	CREB1	chr2:54197849-54198704	HepG2	liver:	n/a	n/a
39	CREB1	chr2:54197809-54198588	K562	blood:	n/a	n/a
40	CREB1	chr2:54198025-54198415	ECC-1	luminal epithelium:	n/a	n/a
41	CREB1	chr2:54197657-54198537	GM12878	blood:	n/a	n/a
42	CREB1	chr2:54197393-54198869	HepG2	liver:	n/a	n/a
43	CREB1	chr2:54197935-54198556	H1-hESC	embryonic stem cell:	n/a	n/a
44	CREB1	chr2:54197961-54198304	A549	lung:	n/a	n/a
45	CREB1	chr2:54197813-54198526	K562	blood:	n/a	n/a
46	CTBP2	chr2:54198082-54198616	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr2:54198280-54198430	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr2:54198280-54198430	GM12865	blood:	n/a	n/a
49	CTCF	chr2:54198380-54198530	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr2:54198360-54198510	Caco-2	colon:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:54197786-54197836	A549	lung:	n/a
2	chr2:54197786-54197836	A549	lung:	n/a
3	chr2:54197786-54197836	SK-N-SH	brain:	n/a
4	chr2:54197256-54197306	T-47D	breast:	n/a
5	chr2:54198159-54198209	T-47D	breast:	n/a
6	chr2:54197573-54197623	Hepatocyte	liver:	n/a
7	chr2:54198366-54198416	PrEC	prostate:	n/a
8	chr2:54198338-54198388	SK-N-MC	brain:	n/a
9	chr2:54197573-54197623	U87	brain:	n/a
10	chr2:54198366-54198416	GM19239	blood:	n/a
11	chr2:54197573-54197623	AG04450	lung:	fetal
12	chr2:54197256-54197306	AG04449	skin:	fetal
13	chr2:54198403-54198453	Hepatocyte	liver:	n/a
14	chr2:54197256-54197306	GM12878	blood:	n/a
15	chr2:54198159-54198209	HCF	heart:	n/a
16	chr2:54198660-54198710	CMK	blood:	n/a
17	chr2:54197256-54197306	MCF-7	breast:	n/a
18	chr2:54198403-54198453	AG09319	gingival:	n/a
19	chr2:54197786-54197836	HIPEpiC	eye:	n/a
20	chr2:54197256-54197306	GM12892	blood:	n/a
21	chr2:54197786-54197836	HCPEpiC	choroid plexus:	n/a
22	chr2:54197573-54197623	HAEpiC	amniotic membrane:	n/a
23	chr2:54197786-54197836	Caco-2	colon:	n/a
24	chr2:54198366-54198416	PFSK-1	brain:	n/a
25	chr2:54198159-54198209	HIPEpiC	eye:	n/a
26	chr2:54197573-54197623	SKMC	muscle:	n/a
27	chr2:54198338-54198388	HL-60	blood:	n/a
28	chr2:54198366-54198416	RPTEC	kidney:	n/a
29	chr2:54197711-54197761	HRPEpiC	eye:	n/a
30	chr2:54197256-54197306	HCM	heart:	n/a
31	chr2:54198338-54198388	ProgFib	skin:	n/a
32	chr2:54197794-54197844	AG09319	gingival:	n/a
33	chr2:54197573-54197623	Hela-S3	cervix:	n/a
34	chr2:54197786-54197836	NH-A	brain:	n/a
35	chr2:54198403-54198453	AG09309	skin:	n/a
36	chr2:54198660-54198710	BJ	skin:	n/a
37	chr2:54198366-54198416	AG04449	skin:	fetal
38	chr2:54197711-54197761	AG09309	skin:	n/a
39	chr2:54198403-54198453	LNCaP	prostate:	n/a
40	chr2:54198366-54198416	NB4	blood:	n/a
41	chr2:54197786-54197836	AG10803	skin:	n/a
42	chr2:54198338-54198388	K562	blood:	n/a
43	chr2:54197256-54197306	HRCEpiC	kidney:	n/a
44	chr2:54198366-54198416	HCF	heart:	n/a
45	chr2:54198660-54198710	SAEC	small airway:	n/a
46	chr2:54198336-54198386	GM12891	blood:	n/a
47	chr2:54197794-54197844	HPAEpiC	pulmonary alveolar:	n/a
48	chr2:54197573-54197623	IMR90	lung:	fetal
49	chr2:54198336-54198386	PANC-1	pancreas:	n/a
50	chr2:54198403-54198453	GM12878	blood:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54194904..54197235-chr2:54307312..54309509,2	K562	blood:
2	chr17:7387527..7388173-chr2:54197783..54198746,2	Hela-S3	cervix:
3	chr2:54197595..54198318-chr8:29207753..29208664,2	HCT-116	colon:
4	chr2:8821873..8822528-chr2:54198116..54198697,2	HCT-116	colon:
5	chr2:54196188..54197004-chr20:2451334..2451980,2	NB4	blood:
6	chr2:54185625..54188123-chr2:54194333..54197670,3	MCF-7	breast:
7	chr2:54194885..54197429-chr2:55459526..55461126,2	MCF-7	breast:
8	chr2:54014148..54016031-chr2:54196984..54199909,2	MCF-7	breast:
9	chr14:70078032..70078862-chr2:54197449..54198389,2	Hela-S3	cervix:
10	chr2:54197301..54199396-chr2:54783418..54785695,2	MCF-7	breast:
11	chr2:54196664..54197534-chr9:136649238..136649738,2	Hela-S3	cervix:
12	chr2:54157567..54166967-chr2:54194910..54201681,12	MCF-7	breast:
13	chr16:30583021..30583813-chr2:54196749..54197540,2	Hela-S3	cervix:
14	chr2:54174064..54177025-chr2:54196606..54198334,2	K562	blood:
15	chr2:54176048..54178126-chr2:54198399..54200009,2	MCF-7	breast:
16	chr1:154377822..154378480-chr2:54197817..54198522,2	HCT-116	colon:
17	chr2:54197470..54198185-chr7:5569820..5570406,2	Hela-S3	cervix:
18	chr2:54195961..54197468-chr2:54240342..54242610,2	MCF-7	breast:
19	chr17:62222840..62223549-chr2:54197639..54198401,2	HCT-116	colon:
20	chr2:54196743..54198781-chr2:54341566..54344110,2	K562	blood:
21	chr2:54198564..54201435-chr2:54359737..54361960,2	K562	blood:
22	chr2:54197521..54198204-chr5:132361698..132362506,2	Hela-S3	cervix:
23	chr2:54174802..54180100-chr2:54196834..54199105,5	K562	blood:
24	chr2:54184275..54188127-chr2:54193177..54197889,6	K562	blood:
25	chr2:54195792..54198215-chr2:55457941..55460893,2	K562	blood:
26	chr2:54197639..54198211-chr20:47895138..47896080,2	Hela-S3	cervix:
27	chr2:54196421..54198197-chr2:55274517..55277399,2	MCF-7	breast:
28	chr2:54198790..54200475-chr2:54201295..54203717,2	K562	blood:
29	chr2:54197865..54198700-chr2:85581464..85582262,2	Hela-S3	cervix:
30	chr2:54135813..54137897-chr2:54198410..54200281,2	K562	blood:
31	chr2:54195012..54197478-chr2:54219368..54222229,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACYP2-1	chr2:54197975-54198458	ENSG00000239235.3
2	lnc-ACYP2-1	chr2:54198245-54198458	ENSG00000239235.3

No data

Variant related genes	Relation type
PSME4	TF binding region
ACYP2	TF binding region
PSME4	CpG island
ACYP2	CpG island
ENSG00000075624	chromatin interactions
ENSG00000115459	chromatin interactions
ENSG00000209042	chromatin interactions
ENSG00000229809	chromatin interactions
ENSG00000068878	chromatin interactions
ENSG00000239791	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000115306	chromatin interactions
ENSG00000235092	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000155329	chromatin interactions
ENSG00000068912	chromatin interactions
ENSG00000162994	chromatin interactions
ENSG00000160712	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000143947	chromatin interactions
ENSG00000115738	chromatin interactions
ENSG00000120875	chromatin interactions
ENSG00000042445	chromatin interactions
ENSG00000170634	chromatin interactions
ENSG00000115310	chromatin interactions
ENSG00000115239	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000100647	chromatin interactions
ENSG00000241114	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000125835	chromatin interactions

Extended variants
information (count: 121 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145793198	chr2:54196886-54196887	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs529322049	chr2:54196923-54196924	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs3209170	chr2:54197006-54197007	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs138447118	chr2:54197018-54197019	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs560320360	chr2:54197053-54197054	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs532617863	chr2:54197054-54197055	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs375666240	chr2:54197122-54197123	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs2293359	chr2:54197126-54197127	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs550596228	chr2:54197150-54197151	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs570466367	chr2:54197178-54197179	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs551650175	chr2:54197182-54197183	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs532939631	chr2:54197202-54197203	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs373430322	chr2:54197323-54197324	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs546743691	chr2:54197327-54197328	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs566593282	chr2:54197358-54197359	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs535507176	chr2:54197387-54197388	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs377440807	chr2:54197402-54197403	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs377178192	chr2:54197405-54197406	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs555935746	chr2:54197431-54197432	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs182580298	chr2:54197433-54197434	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs538572372	chr2:54197489-54197490	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs558152951	chr2:54197508-54197509	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs116064875	chr2:54197527-54197528	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs540252907	chr2:54197553-54197554	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs552979842	chr2:54197569-54197570	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs187639488	chr2:54197648-54197649	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
27	rs534509598	chr2:54197712-54197713	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
28	rs367622925	chr2:54197736-54197737	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
29	rs561967001	chr2:54197769-54197770	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
30	rs78645734	chr2:54197829-54197830	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
31	rs544527439	chr2:54197904-54197905	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
32	rs564199868	chr2:54197935-54197936	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
33	rs533234323	chr2:54197936-54197937	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
34	rs546633951	chr2:54197943-54197944	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
35	rs560149310	chr2:54197949-54197950	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
36	rs528999923	chr2:54197994-54197995	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
37	rs374702990	chr2:54198008-54198009	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
38	rs552470629	chr2:54198073-54198074	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
39	rs190865384	chr2:54198099-54198100	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
40	rs555034873	chr2:54198121-54198122	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
41	rs551924159	chr2:54198152-54198153	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
42	rs141622297	chr2:54198172-54198173	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
43	rs117296869	chr2:54198181-54198182	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
44	rs553755301	chr2:54198192-54198193	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
45	rs573596884	chr2:54198202-54198203	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
46	rs370369259	chr2:54198208-54198209	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
47	rs112218026	chr2:54198217-54198218	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
48	rs372128963	chr2:54198239-54198240	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
49	rs183876011	chr2:54198257-54198258	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
50	rs575422157	chr2:54198269-54198270	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	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
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54190400-54197000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:54190600-54197000	Weak transcription	Esophagus	oesophagus
3	chr2:54192600-54197000	Weak transcription	Spleen	Spleen
4	chr2:54194000-54197000	Weak transcription	Gastric	stomach
5	chr2:54194000-54198800	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr2:54194400-54197000	Flanking Active TSS	Dnd41	blood
7	chr2:54194800-54198800	Active TSS	Osteobl	bone
8	chr2:54194800-54199400	Active TSS	HSMMtube	muscle
9	chr2:54195000-54198800	Active TSS	HMEC	breast
10	chr2:54195000-54199200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr2:54195000-54199400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:54195200-54197000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:54195200-54197400	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr2:54195200-54199200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr2:54195200-54199400	Active TSS	HSMM	muscle
16	chr2:54195400-54197000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:54195400-54197000	Weak transcription	Lung	lung
18	chr2:54195400-54197000	Weak transcription	Pancreas	Pancrea
19	chr2:54195400-54197200	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr2:54195400-54197400	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr2:54195400-54198000	Active TSS	Right Atrium	heart
22	chr2:54195400-54198600	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr2:54195400-54199000	Active TSS	Left Ventricle	heart
24	chr2:54195400-54199000	Active TSS	Right Ventricle	heart
25	chr2:54195400-54199200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:54195400-54199200	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr2:54195400-54199200	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr2:54195400-54199200	Active TSS	Psoas Muscle	Psoas
29	chr2:54195400-54199400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:54195600-54197200	Flanking Active TSS	Fetal Brain Male	brain
31	chr2:54195600-54197200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr2:54195600-54198800	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr2:54195600-54198800	Active TSS	Stomach Smooth Muscle	stomach
34	chr2:54195600-54199000	Active TSS	Aorta	Aorta
35	chr2:54195600-54199000	Active TSS	Fetal Muscle Leg	muscle
36	chr2:54195600-54199200	Active TSS	H9 Cell Line	embryonic stem cell
37	chr2:54195600-54199200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:54195800-54197000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr2:54195800-54197000	Weak transcription	Small Intestine	intestine
40	chr2:54195800-54197200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:54195800-54197400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr2:54195800-54198800	Active TSS	K562	blood
43	chr2:54195800-54198800	Active TSS	NHEK	skin
44	chr2:54195800-54199000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:54195800-54199000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:54195800-54199200	Active TSS	H1 Cell Line	embryonic stem cell
47	chr2:54195800-54199200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:54195800-54199200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:54195800-54199200	Active TSS	Ovary	ovary
50	chr2:54195800-54199200	Active TSS	NHDF-Ad	bronchial

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