Variant report

Variant	nsv829697
Chromosome Location	chr3:119802856-119918435
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2806)
CpG islands
(count:1466)
Chromatin interactive
region (count:193)
LncRNA
region (count:46)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2806 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:119901886-119902086	K562	blood:	n/a	n/a
2	ARID3A	chr3:119813181-119815090	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:119899895-119900146	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:119812558-119812883	HepG2	liver:	n/a	n/a
5	ARID3A	chr3:119814556-119814750	K562	blood:	n/a	n/a
6	ATF1	chr3:119813289-119814150	K562	blood:	n/a	n/a
7	ATF2	chr3:119813170-119815211	GM12878	blood:	n/a	n/a
8	ATF2	chr3:119813579-119815036	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr3:119813770-119814862	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr3:119812342-119815042	GM12878	blood:	n/a	n/a
11	ATF3	chr3:119812288-119812947	A549	lung:	n/a	chr3:119812827-119812840
12	ATF3	chr3:119814413-119814652	K562	blood:	n/a	n/a
13	ATF3	chr3:119814385-119814789	K562	blood:	n/a	n/a
14	ATF3	chr3:119814148-119814934	A549	lung:	n/a	n/a
15	BACH1	chr3:119814253-119814436	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr3:119814019-119814430	GM12878	blood:	n/a	n/a
17	BATF	chr3:119864428-119864687	GM12878	blood:	n/a	chr3:119864551-119864562
18	BATF	chr3:119864378-119864692	GM12878	blood:	n/a	chr3:119864551-119864562
19	BCL11A	chr3:119813947-119814784	GM12878	blood:	n/a	chr3:119813998-119814007
20	BCL11A	chr3:119814013-119814432	GM12878	blood:	n/a	n/a
21	BCL3	chr3:119813721-119814784	A549	lung:	n/a	chr3:119813998-119814007
22	BCL3	chr3:119889152-119889468	GM12878	blood:	n/a	n/a
23	BCL3	chr3:119813661-119814907	GM12878	blood:	n/a	chr3:119813998-119814007
24	BCL3	chr3:119889088-119889424	GM12878	blood:	n/a	n/a
25	BCL3	chr3:119812450-119813287	A549	lung:	n/a	chr3:119813179-119813192
26	BCL3	chr3:119814031-119814466	GM12878	blood:	n/a	n/a
27	BCL3	chr3:119813745-119815176	A549	lung:	n/a	chr3:119813998-119814007
28	BCLAF1	chr3:119813579-119814970	GM12878	blood:	n/a	chr3:119813998-119814007
29	BCLAF1	chr3:119812060-119813184	GM12878	blood:	n/a	n/a
30	BCLAF1	chr3:119813573-119815111	GM12878	blood:	n/a	chr3:119813998-119814007
31	BHLHE40	chr3:119812618-119813428	K562	blood:	n/a	chr3:119813175-119813191 chr3:119812931-119812947 chr3:119813270-119813286
32	BHLHE40	chr3:119813695-119814961	K562	blood:	n/a	n/a
33	BHLHE40	chr3:119812670-119813281	HepG2	liver:	n/a	chr3:119813175-119813191 chr3:119812931-119812947
34	BHLHE40	chr3:119812244-119812256	GM12878	blood:	n/a	n/a
35	BHLHE40	chr3:119812519-119814850	GM12878	blood:	n/a	chr3:119813175-119813191 chr3:119812931-119812947 chr3:119813270-119813286
36	BHLHE40	chr3:119809367-119809372	GM12878	blood:	n/a	n/a
37	BRCA1	chr3:119812204-119812466	GM12878	blood:	n/a	n/a
38	BRCA1	chr3:119813383-119814878	Hela-S3	cervix:	n/a	n/a
39	BRCA1	chr3:119808713-119808779	Hela-S3	cervix:	n/a	n/a
40	BRCA1	chr3:119878837-119879412	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr3:119814052-119814783	GM12878	blood:	n/a	n/a
42	BRCA1	chr3:119813715-119815044	HepG2	liver:	n/a	n/a
43	BRCA1	chr3:119815110-119815159	GM12878	blood:	n/a	n/a
44	BRCA1	chr3:119901710-119902102	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr3:119812584-119812862	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr3:119813696-119813807	GM12878	blood:	n/a	n/a
47	BRCA1	chr3:119813861-119813997	H1-hESC	embryonic stem cell:	n/a	n/a
48	CBX3	chr3:119835484-119835797	K562	blood:	n/a	n/a
49	CBX3	chr3:119873763-119874109	K562	blood:	n/a	n/a
50	CBX3	chr3:119832327-119832902	HCT-116	colon:	n/a	n/a

(count:1466 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:119814398-119814448	GM19239	blood:	n/a
2	chr3:119889512-119889562	HEK293	kidney:	embryo
3	chr3:119814398-119814448	GM19239	blood:	n/a
4	chr3:119889512-119889562	HEK293	kidney:	embryo
5	chr3:119814693-119814743	GM12892	blood:	n/a
6	chr3:119813316-119813366	PANC-1	pancreas:	n/a
7	chr3:119813523-119813573	PANC-1	pancreas:	n/a
8	chr3:119813310-119813360	GM19239	blood:	n/a
9	chr3:119814100-119814150	U87	brain:	n/a
10	chr3:119811892-119811942	HUVEC	blood vessel:	n/a
11	chr3:119811892-119811942	HCPEpiC	choroid plexus:	n/a
12	chr3:119877272-119877322	SKMC	muscle:	n/a
13	chr3:119859180-119859230	U87	brain:	n/a
14	chr3:119877272-119877322	HUVEC	blood vessel:	n/a
15	chr3:119813316-119813366	CMK	blood:	n/a
16	chr3:119859180-119859230	ProgFib	skin:	n/a
17	chr3:119901745-119901795	SK-N-SH	brain:	n/a
18	chr3:119814100-119814150	AG09319	gingival:	n/a
19	chr3:119813927-119813977	Caco-2	colon:	n/a
20	chr3:119901745-119901795	MCF-7	breast:	n/a
21	chr3:119813301-119813351	SAEC	small airway:	n/a
22	chr3:119813316-119813366	PrEC	prostate:	n/a
23	chr3:119813301-119813351	H1-hESC	embryonic stem cell:	embryo
24	chr3:119859180-119859230	HCM	heart:	n/a
25	chr3:119812602-119812652	SK-N-SH	brain:	n/a
26	chr3:119859180-119859230	HNPCEpiC	eye:	n/a
27	chr3:119814100-119814150	GM12878	blood:	n/a
28	chr3:119814100-119814150	SAEC	small airway:	n/a
29	chr3:119812602-119812652	MCF10A-Er-Src	breast:	n/a
30	chr3:119911457-119911507	BE2_C	brain:	n/a
31	chr3:119901745-119901795	PFSK-1	brain:	n/a
32	chr3:119812602-119812652	Hela-S3	cervix:	n/a
33	chr3:119901745-119901795	AG04449	skin:	fetal
34	chr3:119813310-119813360	BE2_C	brain:	n/a
35	chr3:119901745-119901795	SK-N-MC	brain:	n/a
36	chr3:119883253-119883303	NHBE	bronchial:	n/a
37	chr3:119814100-119814150	AoSMC	blood vessel:	n/a
38	chr3:119813301-119813351	NHDF-neo	bronchial:	n/a
39	chr3:119889512-119889562	T-47D	breast:	n/a
40	chr3:119814122-119814172	CMK	blood:	n/a
41	chr3:119883253-119883303	GM12891	blood:	n/a
42	chr3:119814693-119814743	HCM	heart:	n/a
43	chr3:119889512-119889562	BE2_C	brain:	n/a
44	chr3:119883253-119883303	CMK	blood:	n/a
45	chr3:119885187-119885237	SKMC	muscle:	n/a
46	chr3:119810597-119810647	PrEC	prostate:	n/a
47	chr3:119812602-119812652	ECC-1	luminal epithelium:	n/a
48	chr3:119810597-119810647	AG09319	gingival:	n/a
49	chr3:119814693-119814743	HRPEpiC	eye:	n/a
50	chr3:119810597-119810647	H1-hESC	embryonic stem cell:	embryo

(count:193 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr3:119812584..119816190-chr3:119909415..119914379,6	MCF-7	breast:
2	chr3:119812996..119815585-chrX:153772819..153775165,2	MCF-7	breast:
3	chr16:699274..700033-chr3:119813658..119814449,2	Hela-S3	cervix:
4	chr3:119821907..119823644-chr3:119823952..119825659,2	K562	blood:
5	chr3:119814272..119814863-chr7:116593516..116594212,2	Hela-S3	cervix:
6	chr2:201936663..201937210-chr3:119812592..119813295,2	Hela-S3	cervix:
7	chr3:119710167..119712500-chr3:119810883..119812424,2	MCF-7	breast:
8	chr3:119862753..119866394-chr3:119887362..119889316,3	MCF-7	breast:
9	chr3:119864838..119867291-chr3:119874320..119877276,3	MCF-7	breast:
10	chr1:155108077..155108863-chr3:119813775..119814280,2	Hela-S3	cervix:
11	chr3:119917415..119920051-chr3:119920342..119921953,2	MCF-7	breast:
12	chr3:119816323..119819155-chr3:119879849..119882520,2	MCF-7	breast:
13	chr3:119843808..119846167-chr3:119848307..119850116,2	K562	blood:
14	chr3:119877444..119878944-chr3:119896183..119899107,2	MCF-7	breast:
15	chr3:119810967..119815661-chr3:120066752..120069801,5	K562	blood:
16	chr3:119812158..119817554-chr3:119829250..119832588,6	K562	blood:
17	chr3:119856245..119857039-chr3:119901270..119902216,3	MCF-7	breast:
18	chr12:54393741..54394653-chr3:119814059..119814703,2	Hela-S3	cervix:
19	chr3:119832637..119834179-chr3:119912112..119915097,2	MCF-7	breast:
20	chr3:119879846..119883232-chr3:119884933..119889018,3	K562	blood:
21	chr3:119865708..119866577-chr4:128412232..128412732,2	MCF-7	breast:
22	chr3:119854307..119856524-chr3:119867161..119869039,2	MCF-7	breast:
23	chr3:119813993..119815567-chr3:119852618..119855030,3	MCF-7	breast:
24	chr12:51157531..51158382-chr3:119814147..119814798,2	Hela-S3	cervix:
25	chr3:119870692..119873578-chr3:119876530..119878351,2	MCF-7	breast:
26	chr12:39300010..39300760-chr3:119814285..119814942,2	Hela-S3	cervix:
27	chr3:119817098..119817801-chr3:119865724..119866308,2	MCF-7	breast:
28	chr3:119864838..119867291-chr3:119874320..119877276,3	MCF-7	breast:
29	chr3:119610911..119611488-chr3:119916622..119917309,2	MCF-7	breast:
30	chr3:119831403..119834895-chr3:119845302..119848290,3	MCF-7	breast:
31	chr3:119755863..119757873-chr3:119808761..119811166,2	K562	blood:
32	chr16:81040456..81040985-chr3:119813733..119814511,2	Hela-S3	cervix:
33	chr3:119865007..119867802-chr3:119897494..119899931,3	MCF-7	breast:
34	chr3:119813918..119814652-chr9:114393205..114394157,2	Hela-S3	cervix:
35	chr3:119847797..119849644-chr3:119865497..119868433,2	MCF-7	breast:
36	chr3:119888337..119890858-chr3:119891647..119894832,5	MCF-7	breast:
37	chr3:119813101..119815240-chr3:119832233..119834617,2	K562	blood:
38	chr3:119812225..119814949-chr3:119856683..119858230,2	K562	blood:
39	chr3:119865137..119868181-chr3:119877404..119880372,3	MCF-7	breast:
40	chr3:119181413..119183027-chr3:119814257..119816285,2	MCF-7	breast:
41	chr3:119813608..119816143-chr3:119854380..119857222,6	MCF-7	breast:
42	chr3:119872156..119875063-chr3:119876468..119880752,4	MCF-7	breast:
43	chr3:119865137..119868181-chr3:119877404..119880372,3	MCF-7	breast:
44	chr3:119811328..119819569-chr3:119859303..119870611,43	MCF-7	breast:
45	chr3:119856115..119856652-chr3:119901410..119902399,3	MCF-7	breast:
46	chr3:119896267..119897823-chr3:119902121..119903746,2	MCF-7	breast:
47	chr3:119913264..119914837-chr3:119917896..119920108,2	K562	blood:
48	chr17:56708450..56710386-chr3:119813932..119815937,2	MCF-7	breast:
49	chr3:119872811..119874863-chr3:119883837..119886069,2	MCF-7	breast:
50	chr3:119814051..119815818-chr3:119873441..119876430,2	MCF-7	breast:

(count:46 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NR1I2-6	chr3:119843307-119843461	l_2445_chr3:119843306-119845600_testes
2	lnc-NR1I2-1	chr3:119844908-119844933	XLOC_002779
3	lnc-NR1I2-1	chr3:119814117-119814625	ENSG00000242622
4	lnc-GSK3B-2	chr3:119830609-119830872	NONHSAT091428
5	lnc-NR1I2-1	chr3:119814901-119815030	XLOC_002779
6	lnc-GSK3B-1	chr3:119829345-119829633	NONHSAT091427
7	lnc-NR1I2-1	chr3:119817561-119817826	NONHSAT091425
8	lnc-NR1I2-1	chr3:119814171-119815030	XLOC_002779
9	lnc-NR1I2-1	chr3:119814926-119815030	XLOC_002779
10	lnc-NR1I2-1	chr3:119817561-119817826	XLOC_002779
11	lnc-NR1I2-1	chr3:119817561-119817639	XLOC_002779
12	lnc-NR1I2-1	chr3:119817561-119817826	XLOC_002779
13	lnc-NR1I2-1	chr3:119814913-119815030	XLOC_002779
14	lnc-NR1I2-1	chr3:119852422-119852519	ENSG00000242622
15	lnc-NR1I2-1	chr3:119814562-119814625	XLOC_002779
16	lnc-NR1I2-5	chr3:119840756-119841051	NONHSAT091429
17	lnc-NR1I2-1	chr3:119855175-119855628	XLOC_002779
18	lnc-NR1I2-1	chr3:119844908-119844933	XLOC_002779
19	lnc-NR1I2-1	chr3:119823623-119823692	XLOC_002779
20	lnc-NR1I2-1	chr3:119823623-119824125	XLOC_002779
21	lnc-NR1I2-1	chr3:119823623-119824073	XLOC_002779
22	lnc-NR1I2-1	chr3:119814562-119814625	XLOC_002779
23	lnc-NR1I2-1	chr3:119817722-119817826	XLOC_002779
24	lnc-NR1I2-1	chr3:119817239-119817634	XLOC_002779
25	lnc-NR1I2-1	chr3:119817561-119819230	XLOC_002779
26	lnc-NR1I2-1	chr3:119814477-119814625	XLOC_002779
27	lnc-NR1I2-1	chr3:119823623-119824003	NONHSAT091425
28	lnc-NR1I2-1	chr3:119855175-119855630	ENSG00000242622
29	lnc-NR1I2-1	chr3:119823623-119824032	XLOC_002779
30	lnc-NR1I2-6	chr3:119845399-119845600	l_2445_chr3:119843306-119845600_testes
31	lnc-NR1I2-1	chr3:119813742-119813889	XLOC_002779
32	lnc-NR1I2-1	chr3:119817561-119817826	XLOC_002779
33	lnc-NR1I2-1	chr3:119817561-119817639	ENSG00000242622
34	lnc-NR1I2-1	chr3:119813266-119819259	NONHSAT091417
35	lnc-NR1I2-1	chr3:119814171-119815030	XLOC_002779
36	lnc-NR1I2-1	chr3:119814913-119815030	ENSG00000242622
37	lnc-NR1I2-1	chr3:119823623-119824032	XLOC_002779
38	lnc-NR1I2-1	chr3:119817561-119819241	XLOC_002779
39	lnc-NR1I2-1	chr3:119817561-119817639	XLOC_002779
40	lnc-NR1I2-1	chr3:119814598-119814625	XLOC_002779
41	lnc-NR1I2-1	chr3:119817561-119817826	XLOC_002779
42	lnc-NR1I2-1	chr3:119823623-119823692	ENSG00000242622
43	lnc-NR1I2-1	chr3:119814677-119815030	NONHSAT091425
44	lnc-NR1I2-1	chr3:119852422-119852519	XLOC_002779
45	lnc-NR1I2-1	chr3:119817561-119818033	ENSG00000242622
46	lnc-NR1I2-1	chr3:119813742-119813889	ENSG00000242622

No data

Variant related genes	Relation type
RN7SL762P	TF binding region
GSK3B	TF binding region
ENSG00000242622	TF binding region
RN7SL397P	TF binding region
RN7SL762P	CpG island
GSK3B	CpG island
ENSG00000242622	CpG island
RN7SL397P	CpG island
ENSG00000264395	chromatin interactions
ENSG00000136878	chromatin interactions
ENSG00000111725	chromatin interactions
ENSG00000163389	chromatin interactions
ENSG00000242622	chromatin interactions
ENSG00000118515	chromatin interactions
ENSG00000248636	chromatin interactions
ENSG00000073009	chromatin interactions
ENSG00000138495	chromatin interactions
ENSG00000166451	chromatin interactions
ENSG00000257718	chromatin interactions
ENSG00000034510	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000180806	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000167930	chromatin interactions
ENSG00000168724	chromatin interactions
ENSG00000103121	chromatin interactions
ENSG00000244115	chromatin interactions
ENSG00000004866	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000260879	chromatin interactions
ENSG00000204173	chromatin interactions
ENSG00000240661	chromatin interactions
ENSG00000172115	chromatin interactions
ENSG00000167644	chromatin interactions
ENSG00000244139	chromatin interactions
ENSG00000158711	chromatin interactions
ENSG00000163428	chromatin interactions
ENSG00000119013	chromatin interactions
ENSG00000003400	chromatin interactions
ENSG00000161996	chromatin interactions
ENSG00000123268	chromatin interactions
ENSG00000250451	chromatin interactions
ENSG00000160211	chromatin interactions
ENSG00000111640	chromatin interactions
ENSG00000214188	chromatin interactions
ENSG00000082701	chromatin interactions
ENSG00000272173	chromatin interactions
ENSG00000247271	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000139117	chromatin interactions
ENSG00000244308	chromatin interactions
ENSG00000059769	chromatin interactions
ENSG00000166881	chromatin interactions
ENSG00000267858	chromatin interactions
ENSG00000239835	chromatin interactions
ENSG00000136819	chromatin interactions
ENSG00000133398	chromatin interactions
ENSG00000176142	chromatin interactions
ENSG00000241546	chromatin interactions
ENSG00000169241	chromatin interactions
TAB3	miRNA target sites
NAA30	miRNA target sites
FGFR1	miRNA target sites
AKT2	miRNA target sites
SPAG5	miRNA target sites
RPAIN	miRNA target sites
HSPA13	miRNA target sites

Extended variants
information (count: 4354 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:4354 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555980750	chr3:119802897-119802898	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575857286	chr3:119802918-119802919	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544758496	chr3:119802948-119802949	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565419702	chr3:119802953-119802954	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546611703	chr3:119803084-119803085	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534455216	chr3:119803118-119803119	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557932178	chr3:119803120-119803121	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35879979	chr3:119803152-119803153	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554772632	chr3:119803156-119803157	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs729325	chr3:119803164-119803165	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140236123	chr3:119803209-119803210	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537313732	chr3:119803276-119803277	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556992302	chr3:119803386-119803387	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376429012	chr3:119803407-119803408	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112824309	chr3:119803413-119803414	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189192912	chr3:119803414-119803415	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75766927	chr3:119803417-119803418	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537570082	chr3:119803418-119803419	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193055763	chr3:119803441-119803442	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545174319	chr3:119803502-119803503	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558408950	chr3:119803532-119803533	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374618389	chr3:119803577-119803578	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565435784	chr3:119803587-119803588	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531026616	chr3:119803649-119803650	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544860256	chr3:119803684-119803685	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561398614	chr3:119803745-119803746	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112350244	chr3:119803822-119803823	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530359076	chr3:119803831-119803832	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548562100	chr3:119803840-119803841	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185571085	chr3:119803849-119803850	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528130911	chr3:119803928-119803929	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144338957	chr3:119804006-119804007	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189238249	chr3:119804042-119804043	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545901204	chr3:119804055-119804056	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557137339	chr3:119804056-119804057	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368215933	chr3:119804093-119804094	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559532430	chr3:119804094-119804095	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs334555	chr3:119804136-119804137	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541462608	chr3:119804208-119804209	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs34390631	chr3:119804210-119804211	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs561975021	chr3:119804237-119804238	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs374653980	chr3:119804323-119804324	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs530726825	chr3:119804389-119804390	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs567552064	chr3:119804409-119804410	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs62266281	chr3:119804462-119804463	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs142358797	chr3:119804505-119804506	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs151266821	chr3:119804520-119804521	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs539087705	chr3:119804677-119804678	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs532993706	chr3:119804718-119804719	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs180706841	chr3:119804734-119804735	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2263 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119760200-119805400	Weak transcription	HMEC	breast
2	chr3:119764600-119812000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:119769200-119804400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:119771400-119809400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:119771800-119805400	Weak transcription	NHEK	skin
6	chr3:119773200-119807600	Weak transcription	Right Ventricle	heart
7	chr3:119779400-119804200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:119779400-119807400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:119779600-119807800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr3:119780600-119807800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr3:119788400-119805400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:119788400-119808600	Weak transcription	Primary B cells from cord blood	blood
13	chr3:119789400-119809200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:119789800-119807800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr3:119790000-119807600	Weak transcription	Liver	Liver
16	chr3:119790200-119805000	Weak transcription	HepG2	liver
17	chr3:119790400-119805200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr3:119790600-119807400	Weak transcription	Brain Substantia Nigra	brain
19	chr3:119790600-119807800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr3:119790600-119809200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:119790800-119808000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr3:119790800-119809200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr3:119790800-119809400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:119791000-119809600	Weak transcription	Fetal Muscle Leg	muscle
25	chr3:119793000-119807400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr3:119793200-119805400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:119795200-119805200	Weak transcription	Hela-S3	cervix
28	chr3:119796400-119804800	Weak transcription	Stomach Mucosa	stomach
29	chr3:119796600-119804600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:119796800-119806000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr3:119797000-119807400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:119797000-119807800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr3:119797200-119807600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:119797600-119808000	Weak transcription	NHLF	lung
35	chr3:119797800-119804400	Weak transcription	Fetal Brain Male	brain
36	chr3:119797800-119805200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:119798000-119805400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr3:119798000-119807600	Weak transcription	NHDF-Ad	bronchial
39	chr3:119798400-119807600	Weak transcription	Right Atrium	heart
40	chr3:119798400-119809400	Weak transcription	Lung	lung
41	chr3:119798600-119804400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr3:119798600-119807400	Weak transcription	Thymus	Thymus
43	chr3:119798600-119807600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:119798600-119807600	Weak transcription	Fetal Thymus	thymus
45	chr3:119798800-119807600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr3:119798800-119807800	Weak transcription	K562	blood
47	chr3:119799000-119807600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr3:119799000-119808000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr3:119799000-119810400	Weak transcription	Placenta	Placenta
50	chr3:119799200-119806800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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