Variant report

Variant	nsv1002010
Chromosome Location	chr3:67785913-68312064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1768)
CpG islands
(count:1098)
Chromatin interactive
region (count:48)
LncRNA
region (count:24)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1768 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:67926647-67927182	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:67925864-67926374	HepG2	liver:	n/a	chr3:67926095-67926111 chr3:67926096-67926112
3	ARID3A	chr3:68175198-68175199	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:67914380-67914539	HepG2	liver:	n/a	n/a
5	ATF1	chr3:67816061-67816270	K562	blood:	n/a	n/a
6	BACH1	chr3:68017186-68017276	K562	blood:	n/a	n/a
7	BACH1	chr3:68251296-68251397	H1-hESC	embryonic stem cell:	n/a	n/a
8	BHLHE40	chr3:67840586-67840775	K562	blood:	n/a	n/a
9	BHLHE40	chr3:67935315-67935332	GM12878	blood:	n/a	n/a
10	BHLHE40	chr3:67825040-67825316	HepG2	liver:	n/a	n/a
11	BHLHE40	chr3:68137527-68137547	GM12878	blood:	n/a	n/a
12	BRCA1	chr3:68188828-68188830	H1-hESC	embryonic stem cell:	n/a	n/a
13	BRCA1	chr3:67840501-67840800	H1-hESC	embryonic stem cell:	n/a	n/a
14	CCNT2	chr3:68033067-68033322	K562	blood:	n/a	n/a
15	CEBPB	chr3:67790503-67790851	IMR90	lung:	n/a	n/a
16	CEBPB	chr3:68172396-68172766	HepG2	liver:	n/a	chr3:68172575-68172584 chr3:68172575-68172584 chr3:68172575-68172584 chr3:68172573-68172584 chr3:68172575-68172584 chr3:68172573-68172586
17	CEBPB	chr3:68030853-68031196	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr3:68037007-68037284	H1-hESC	embryonic stem cell:	n/a	chr3:68037159-68037170
19	CEBPB	chr3:68221977-68222241	HepG2	liver:	n/a	chr3:68222102-68222113
20	CEBPB	chr3:67839350-67839496	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr3:67821857-67822089	HepG2	liver:	n/a	n/a
22	CEBPB	chr3:68172394-68172762	A549	lung:	n/a	chr3:68172575-68172584 chr3:68172575-68172584 chr3:68172575-68172584 chr3:68172573-68172584 chr3:68172575-68172584 chr3:68172573-68172586
23	CEBPB	chr3:67932535-67932706	HepG2	liver:	n/a	chr3:67932573-67932584 chr3:67932639-67932651 chr3:67932571-67932582
24	CEBPB	chr3:67964275-67964462	H1-hESC	embryonic stem cell:	n/a	chr3:67964358-67964369
25	CEBPB	chr3:67926677-67927058	HepG2	liver:	n/a	n/a
26	CEBPB	chr3:67974240-67974550	HepG2	liver:	n/a	n/a
27	CEBPB	chr3:68033366-68033687	HepG2	liver:	n/a	chr3:68033525-68033536 chr3:68033502-68033513
28	CEBPB	chr3:68078730-68079003	H1-hESC	embryonic stem cell:	n/a	chr3:68078889-68078901 chr3:68078888-68078899
29	CEBPB	chr3:68172422-68172736	ECC-1	luminal epithelium:	n/a	chr3:68172575-68172584 chr3:68172575-68172584 chr3:68172575-68172584 chr3:68172573-68172584 chr3:68172575-68172584 chr3:68172573-68172586
30	CEBPB	chr3:68107196-68107640	A549	lung:	n/a	chr3:68107519-68107530
31	CEBPB	chr3:68037001-68037283	HepG2	liver:	n/a	chr3:68037159-68037170
32	CEBPB	chr3:68078683-68079039	IMR90	lung:	n/a	chr3:68078889-68078901 chr3:68078888-68078899
33	CEBPB	chr3:68083005-68083349	HepG2	liver:	n/a	chr3:68083172-68083183
34	CEBPB	chr3:67926694-67926991	A549	lung:	n/a	n/a
35	CEBPB	chr3:68037023-68037308	IMR90	lung:	n/a	chr3:68037159-68037170
36	CEBPB	chr3:68274869-68275082	HepG2	liver:	n/a	chr3:68274991-68275002
37	CEBPB	chr3:67964234-67964528	HepG2	liver:	n/a	chr3:67964358-67964369
38	CEBPB	chr3:67926724-67926973	HepG2	liver:	n/a	n/a
39	CEBPB	chr3:68030854-68031193	HepG2	liver:	n/a	n/a
40	CEBPB	chr3:68123103-68123471	H1-hESC	embryonic stem cell:	n/a	chr3:68123273-68123284
41	CEBPB	chr3:67840465-67840800	HepG2	liver:	n/a	n/a
42	CEBPB	chr3:68107248-68107689	IMR90	lung:	n/a	chr3:68107519-68107530
43	CEBPB	chr3:67849791-67849985	HepG2	liver:	n/a	chr3:67849844-67849855
44	CEBPB	chr3:68107206-68107669	HepG2	liver:	n/a	chr3:68107519-68107530
45	CEBPB	chr3:68172432-68172733	K562	blood:	n/a	chr3:68172575-68172584 chr3:68172575-68172584 chr3:68172575-68172584 chr3:68172573-68172584 chr3:68172575-68172584 chr3:68172573-68172586
46	CEBPB	chr3:68172496-68172642	HepG2	liver:	n/a	chr3:68172575-68172584 chr3:68172575-68172584 chr3:68172575-68172584 chr3:68172573-68172584 chr3:68172575-68172584 chr3:68172573-68172586
47	CEBPB	chr3:68078689-68079039	HepG2	liver:	n/a	chr3:68078889-68078901 chr3:68078888-68078899
48	CEBPB	chr3:68037035-68037272	A549	lung:	n/a	chr3:68037159-68037170
49	CEBPB	chr3:68123108-68123364	HepG2	liver:	n/a	chr3:68123273-68123284
50	CEBPB	chr3:67840463-67840836	IMR90	lung:	n/a	n/a

(count:1098 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:68053949-68053999	HRPEpiC	eye:	n/a
2	chr3:68057306-68057356	U87	brain:	n/a
3	chr3:68053949-68053999	ProgFib	skin:	n/a
4	chr3:68053949-68053999	NB4	blood:	n/a
5	chr3:68057306-68057356	HUVEC	blood vessel:	n/a
6	chr3:68060925-68060975	T-47D	breast:	n/a
7	chr3:67840535-67840585	GM06990	blood:	n/a
8	chr3:68053273-68053323	GM12892	blood:	n/a
9	chr3:68057306-68057356	SK-N-SH_RA	brain:	n/a
10	chr3:68060925-68060975	HCPEpiC	choroid plexus:	n/a
11	chr3:68057357-68057407	CMK	blood:	n/a
12	chr3:68053371-68053421	MCF-7	breast:	n/a
13	chr3:68039483-68039533	RPTEC	kidney:	n/a
14	chr3:68057322-68057372	AoSMC	blood vessel:	n/a
15	chr3:68057306-68057356	Jurkat	blood:	n/a
16	chr3:68056706-68056756	HEEpiC	esophagus:	n/a
17	chr3:68060925-68060975	RPTEC	kidney:	n/a
18	chr3:68053949-68053999	HL-60	blood:	n/a
19	chr3:68047840-68047890	HCPEpiC	choroid plexus:	n/a
20	chr3:68131323-68131373	SK-N-SH	brain:	n/a
21	chr3:68053949-68053999	HCM	heart:	n/a
22	chr3:68053371-68053421	RPTEC	kidney:	n/a
23	chr3:68053949-68053999	AG09319	gingival:	n/a
24	chr3:68053371-68053421	GM12878	blood:	n/a
25	chr3:68047840-68047890	PANC-1	pancreas:	n/a
26	chr3:68047840-68047890	Hela-S3	cervix:	n/a
27	chr3:68131284-68131334	NHBE	bronchial:	n/a
28	chr3:68053371-68053421	HIPEpiC	eye:	n/a
29	chr3:68039483-68039533	NHDF-neo	bronchial:	n/a
30	chr3:68047840-68047890	ovcar-3	ovarian:	n/a
31	chr3:68039483-68039533	SK-N-SH	brain:	n/a
32	chr3:68053273-68053323	SK-N-SH	brain:	n/a
33	chr3:68053273-68053323	MCF-7	breast:	n/a
34	chr3:68056976-68057026	HCPEpiC	choroid plexus:	n/a
35	chr3:68131204-68131254	IMR90	lung:	fetal
36	chr3:68057357-68057407	GM12891	blood:	n/a
37	chr3:68185630-68185680	Caco-2	colon:	n/a
38	chr3:67840535-67840585	ECC-1	luminal epithelium:	n/a
39	chr3:68056706-68056756	NHBE	bronchial:	n/a
40	chr3:68057025-68057075	SK-N-MC	brain:	n/a
41	chr3:68131284-68131334	ProgFib	skin:	n/a
42	chr3:68057322-68057372	BE2_C	brain:	n/a
43	chr3:68056976-68057026	SK-N-SH	brain:	n/a
44	chr3:68057025-68057075	PrEC	prostate:	n/a
45	chr3:68131284-68131334	HL-60	blood:	n/a
46	chr3:68060925-68060975	Caco-2	colon:	n/a
47	chr3:68131323-68131373	SKMC	muscle:	n/a
48	chr3:68131204-68131254	Hela-S3	cervix:	n/a
49	chr3:68131323-68131373	HCPEpiC	choroid plexus:	n/a
50	chr3:68053949-68053999	Hepatocyte	liver:	n/a

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:67821892..67822812-chr3:67840239..67841219,2	K562	blood:
2	chr3:67701996..67704573-chr3:67817178..67820032,3	MCF-7	breast:
3	chr3:67991529..67993327-chr3:67994469..67996433,2	MCF-7	breast:
4	chr3:67869894..67870930-chr3:68066062..68066983,4	MCF-7	breast:
5	chr3:67991094..67994023-chr3:67995213..67998211,2	MCF-7	breast:
6	chr3:67951890..67952870-chr3:68066397..68066948,2	MCF-7	breast:
7	chr3:68058440..68060357-chr3:68076381..68078551,2	K562	blood:
8	chr3:66988495..66989453-chr3:67840497..67841033,2	K562	blood:
9	chr3:67434937..67435840-chr3:67841382..67842248,2	MCF-7	breast:
10	chr3:67579489..67580411-chr3:67840544..67841101,2	MCF-7	breast:
11	chr3:67951814..67952581-chr3:68255379..68256164,2	MCF-7	breast:
12	chr17:56160421..56161299-chr3:67919204..67919724,3	HCT-116	colon:
13	chr3:67890188..67892116-chr3:67894195..67896517,2	K562	blood:
14	chr3:67840274..67841142-chr3:67914118..67914816,4	MCF-7	breast:
15	chr3:67467097..67467666-chr3:67840213..67841048,2	MCF-7	breast:
16	chr3:67951881..67952772-chr3:68305559..68306337,2	MCF-7	breast:
17	chr3:67951814..67952581-chr3:68255379..68256164,2	MCF-7	breast:
18	chr3:67869561..67870138-chr3:68927224..68928400,3	MCF-7	breast:
19	chr3:68228464..68231437-chr3:68234826..68237803,2	K562	blood:
20	chr17:56159655..56161786-chr3:67919204..67920724,2	MCF-7	breast:
21	chr3:67435046..67435830-chr3:67840399..67841145,2	K562	blood:
22	chr3:67821892..67822812-chr3:67840239..67841219,2	K562	blood:
23	chr3:67840426..67841246-chr3:68065943..68066794,2	MCF-7	breast:
24	chr3:68045575..68047988-chr3:68059342..68060872,2	MCF-7	breast:
25	chr3:67869894..67870930-chr3:68066062..68066983,4	MCF-7	breast:
26	chr3:67644504..67645005-chr3:67840284..67841159,2	MCF-7	breast:
27	chr3:67703993..67706506-chr3:67842912..67844506,2	MCF-7	breast:
28	chr3:67991529..67993327-chr3:67994469..67996433,2	MCF-7	breast:
29	chr3:68260944..68263531-chr3:68263776..68266354,2	K562	blood:
30	chr3:67794644..67797573-chr3:67799794..67802421,2	K562	blood:
31	chr3:68260944..68263531-chr3:68263776..68266354,2	K562	blood:
32	chr3:68058440..68060357-chr3:68076381..68078551,2	K562	blood:
33	chr3:67890188..67892116-chr3:67894195..67896517,2	K562	blood:
34	chr3:67644010..67644919-chr3:67839779..67840998,5	MCF-7	breast:
35	chr3:67840426..67841246-chr3:68065943..68066794,2	MCF-7	breast:
36	chr3:68045575..68047988-chr3:68059342..68060872,2	MCF-7	breast:
37	chr17:56159704..56161633-chr3:67919204..67920724,2	MCF-7	breast:
38	chr3:67991094..67994023-chr3:67995213..67998211,2	MCF-7	breast:
39	chr3:68228464..68231437-chr3:68234826..68237803,2	K562	blood:
40	chr3:67952201..67952773-chr3:68925063..68925992,2	MCF-7	breast:
41	chr3:68207392..68209217-chr3:68210533..68213462,2	K562	blood:
42	chr3:67794644..67797573-chr3:67799794..67802421,2	K562	blood:
43	chr3:68207392..68209217-chr3:68210533..68213462,2	K562	blood:
44	chr1:221790481..221791096-chr3:68162539..68163265,2	MCF-7	breast:
45	chr3:67951890..67952870-chr3:68066397..68066948,2	MCF-7	breast:
46	chr3:67840274..67841142-chr3:67914118..67914816,4	MCF-7	breast:
47	chr3:67951881..67952772-chr3:68305559..68306337,2	MCF-7	breast:
48	chr3:67160040..67160708-chr3:68065971..68066562,2	MCF-7	breast:

(count:24 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM19A1-1	chr3:67997565-67998136	NR_109992
2	lnc-FAM19A1-1	chr3:67894657-67894776	ENSG00000241316
3	lnc-FAM19A1-1	chr3:67939433-67939460	NONHSAT090326
4	lnc-FAM19A1-1	chr3:67800838-67801093	ENSG00000241316
5	lnc-FAM19A1-1	chr3:67891019-67891263	XLOC_002693
6	lnc-FAM19A1-1	chr3:67939434-67939533	NR_109992
7	lnc-FAM19A1-1	chr3:67890446-67891263	NR_109992
8	lnc-FAM19A1-2	chr3:67803943-67804118	l_2384_chr3:67787798-67880076_thyroid
9	lnc-FAM19A1-1	chr3:67797195-67799050	NONHSAT090319
10	lnc-FAM19A1-1	chr3:67797195-67797534	ENSG00000241316
11	lnc-FAM19A1-2	chr3:67879885-67880076	l_2384_chr3:67787798-67880076_thyroid
12	lnc-FAM19A1-1	chr3:67894657-67894776	XLOC_002693
13	lnc-FAM19A1-1	chr3:67997565-67998137	ENSG00000241316
14	lnc-FAM19A1-2	chr3:67802930-67803023	l_2384_chr3:67787798-67880076_thyroid
15	lnc-FAM19A1-1	chr3:67797195-67797381	ENSG00000241316
16	lnc-FAM19A1-1	chr3:67894657-67894776	NR_109992
17	lnc-FAM19A1-1	chr3:67889921-67891263	NONHSAT090326
18	lnc-FAM19A1-1	chr3:67939434-67939460	XLOC_002693
19	lnc-FAM19A1-1	chr3:67939434-67939533	ENSG00000241316
20	lnc-FAM19A1-1	chr3:67800277-67800394	ENSG00000241316
21	lnc-FAM19A1-1	chr3:67890446-67891263	ENSG00000241316
22	lnc-FAM19A1-2	chr3:67787799-67788216	l_2384_chr3:67787798-67880076_thyroid
23	lnc-FAM19A1-1	chr3:67894656-67894776	NONHSAT090326
24	lnc-FAM19A1-2	chr3:67801340-67801391	l_2384_chr3:67787798-67880076_thyroid

No data

Variant related genes	Relation type
ENSG00000266400	TF binding region
ENSG00000240568	TF binding region
FAM19A1	TF binding region
COPS8P2	TF binding region
ENSG00000266400	CpG island
ENSG00000240568	CpG island
FAM19A1	CpG island
COPS8P2	CpG island
ENSG00000241316	chromatin interactions
ENSG00000266290	chromatin interactions
ENSG00000172340	chromatin interactions
ENSG00000264364	chromatin interactions
E2F3	miRNA target sites

Extended variants
information (count: 9997 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:9997 , 50 per page) page: 1 2 3 4 5 6 7 ... 200

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574227000	chr3:67785962-67785963	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140855493	chr3:67786008-67786009	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189701443	chr3:67786017-67786018	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35862823	chr3:67786020-67786021	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538943556	chr3:67786146-67786147	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181345101	chr3:67786183-67786184	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572525353	chr3:67786353-67786354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34726577	chr3:67786354-67786355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77865533	chr3:67786361-67786362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564975207	chr3:67786418-67786419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553985816	chr3:67786428-67786429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75202182	chr3:67786442-67786443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186663207	chr3:67786598-67786599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376394913	chr3:67786608-67786609	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56003647	chr3:67786630-67786631	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs143254027	chr3:67786681-67786682	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529984130	chr3:67786702-67786703	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546939951	chr3:67786735-67786736	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1459912	chr3:67786737-67786738	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs528479321	chr3:67786794-67786795	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2125810	chr3:67786924-67786925	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs200927427	chr3:67786925-67786926	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367733175	chr3:67786973-67786974	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569532858	chr3:67787010-67787011	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114096492	chr3:67787053-67787054	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34346935	chr3:67787068-67787069	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189772309	chr3:67787086-67787087	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546329228	chr3:67787097-67787098	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557487281	chr3:67787102-67787103	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34004084	chr3:67787182-67787183	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567777509	chr3:67787266-67787267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536516982	chr3:67787269-67787270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35868314	chr3:67787294-67787295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553227376	chr3:67787316-67787317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575761485	chr3:67787317-67787318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114550585	chr3:67787340-67787341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147878194	chr3:67787394-67787395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558273636	chr3:67787396-67787397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13321006	chr3:67787435-67787436	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543988786	chr3:67787505-67787506	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370083291	chr3:67787524-67787525	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182493336	chr3:67787628-67787629	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574664736	chr3:67787646-67787647	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186295187	chr3:67787647-67787648	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560463345	chr3:67787750-67787751	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35814967	chr3:67787788-67787789	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs551260143	chr3:67787805-67787806	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs191080197	chr3:67787837-67787838	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs530999024	chr3:67787883-67787884	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs9871660	chr3:67787897-67787898	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:947 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67721400-67800400	Weak transcription	Left Ventricle	heart
2	chr3:67775800-67790200	Weak transcription	Psoas Muscle	Psoas
3	chr3:67785600-67788200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr3:67785800-67786200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr3:67785800-67787600	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr3:67785800-67790000	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr3:67785800-67791600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr3:67786000-67787400	Enhancers	Primary T cells from cord blood	blood
9	chr3:67786000-67790000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr3:67786000-67791600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr3:67786200-67786600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr3:67786200-67788400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr3:67786200-67790200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr3:67786600-67787200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr3:67786600-67790000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr3:67787200-67787600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr3:67787400-67787600	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr3:67787400-67787800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:67787400-67788200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr3:67787400-67788400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr3:67787600-67788000	Enhancers	Primary T cells from cord blood	blood
22	chr3:67787600-67788800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr3:67787600-67788800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr3:67787600-67789200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:67788000-67788600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:67788000-67788800	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr3:67788000-67802800	Weak transcription	Right Ventricle	heart
28	chr3:67788200-67788800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr3:67788200-67789000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr3:67788400-67788600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr3:67788600-67789000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:67788600-67789000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr3:67788800-67790800	Enhancers	Primary T cells from cord blood	blood
34	chr3:67788800-67790800	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr3:67788800-67792000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr3:67788800-67792200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr3:67789000-67789400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr3:67789000-67790000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr3:67789200-67789400	ZNF genes & repeats	Aorta	Aorta
40	chr3:67789400-67799600	Weak transcription	Aorta	Aorta
41	chr3:67790000-67790400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr3:67790000-67790600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr3:67790200-67791400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr3:67790400-67790600	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr3:67790600-67790800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr3:67790600-67795000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr3:67790800-67791200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr3:67791200-67792000	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr3:67791400-67791600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr3:67792000-67792200	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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