Variant report

Variant	nsv829700
Chromosome Location	chr3:120469191-120675763
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1224)
CpG islands
(count:1159)
Chromatin interactive
region (count:50)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

(count:1224 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:120511001-120511149	K562	blood:	n/a	n/a
2	ARID3A	chr3:120513956-120514262	K562	blood:	n/a	n/a
3	ARID3A	chr3:120513809-120514265	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:120514892-120515237	HepG2	liver:	n/a	n/a
5	ARID3A	chr3:120484938-120485232	HepG2	liver:	n/a	n/a
6	ATF1	chr3:120577705-120577893	K562	blood:	n/a	n/a
7	ATF1	chr3:120510846-120511196	K562	blood:	n/a	n/a
8	ATF2	chr3:120499708-120500415	GM12878	blood:	n/a	n/a
9	ATF2	chr3:120492671-120493231	GM12878	blood:	n/a	n/a
10	ATF2	chr3:120504686-120505174	GM12878	blood:	n/a	n/a
11	ATF2	chr3:120513758-120514160	GM12878	blood:	n/a	n/a
12	ATF2	chr3:120492725-120493152	GM12878	blood:	n/a	n/a
13	ATF2	chr3:120499787-120500315	GM12878	blood:	n/a	n/a
14	BACH1	chr3:120557921-120558355	K562	blood:	n/a	n/a
15	BACH1	chr3:120557572-120558549	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr3:120504837-120505076	GM12878	blood:	n/a	n/a
17	BATF	chr3:120492781-120493086	GM12878	blood:	n/a	chr3:120492935-120492945
18	BATF	chr3:120499839-120500339	GM12878	blood:	n/a	chr3:120500052-120500063
19	BATF	chr3:120504785-120505108	GM12878	blood:	n/a	n/a
20	BATF	chr3:120499836-120500255	GM12878	blood:	n/a	chr3:120500052-120500063
21	BATF	chr3:120492829-120493166	GM12878	blood:	n/a	chr3:120492935-120492945
22	BCL11A	chr3:120499848-120500309	GM12878	blood:	n/a	n/a
23	BCL11A	chr3:120492789-120493061	GM12878	blood:	n/a	chr3:120492934-120492943
24	BCL11A	chr3:120499903-120500266	GM12878	blood:	n/a	n/a
25	BCL3	chr3:120499846-120500245	GM12878	blood:	n/a	n/a
26	BCLAF1	chr3:120499884-120500328	GM12878	blood:	n/a	n/a
27	BCLAF1	chr3:120513890-120514266	GM12878	blood:	n/a	n/a
28	BCLAF1	chr3:120499806-120500314	GM12878	blood:	n/a	n/a
29	BHLHE40	chr3:120499800-120500268	GM12878	blood:	n/a	n/a
30	BHLHE40	chr3:120504944-120504979	GM12878	blood:	n/a	n/a
31	BHLHE40	chr3:120570687-120570722	K562	blood:	n/a	n/a
32	BRCA1	chr3:120543640-120543840	H1-hESC	embryonic stem cell:	n/a	n/a
33	BRCA1	chr3:120509972-120510027	H1-hESC	embryonic stem cell:	n/a	n/a
34	BRCA1	chr3:120565005-120565162	H1-hESC	embryonic stem cell:	n/a	n/a
35	BRCA1	chr3:120574669-120575227	Hela-S3	cervix:	n/a	n/a
36	CCNT2	chr3:120626977-120627177	K562	blood:	n/a	n/a
37	CEBPB	chr3:120510126-120510255	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr3:120666224-120666548	HepG2	liver:	n/a	chr3:120666382-120666393
39	CEBPB	chr3:120484772-120485294	HepG2	liver:	n/a	chr3:120484956-120484967 chr3:120485197-120485214 chr3:120484956-120484969
40	CEBPB	chr3:120613139-120613890	Hela-S3	cervix:	n/a	chr3:120613555-120613566
41	CEBPB	chr3:120484764-120485114	IMR90	lung:	n/a	chr3:120484956-120484967 chr3:120484956-120484969
42	CEBPB	chr3:120603625-120603835	A549	lung:	n/a	chr3:120603736-120603747
43	CEBPB	chr3:120537755-120537968	A549	lung:	n/a	n/a
44	CEBPB	chr3:120613558-120613971	HCT-116	colon:	n/a	n/a
45	CEBPB	chr3:120533089-120533412	HepG2	liver:	n/a	chr3:120533247-120533258
46	CEBPB	chr3:120631340-120631349	A549	lung:	n/a	n/a
47	CEBPB	chr3:120636239-120636341	A549	lung:	n/a	n/a
48	CEBPB	chr3:120627180-120627240	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr3:120525746-120525946	IMR90	lung:	n/a	n/a
50	CEBPB	chr3:120574952-120575329	Hela-S3	cervix:	n/a	n/a

(count:1159 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:120626899-120626949	CMK	blood:	n/a
2	chr3:120626899-120626949	K562	blood:	n/a
3	chr3:120555756-120555806	NB4	blood:	n/a
4	chr3:120628544-120628594	MCF10A-Er-Src	breast:	n/a
5	chr3:120626653-120626703	AoSMC	blood vessel:	n/a
6	chr3:120626911-120626961	HIPEpiC	eye:	n/a
7	chr3:120626667-120626717	HRE	kidney:	n/a
8	chr3:120499981-120500031	HL-60	blood:	n/a
9	chr3:120628291-120628341	CMK	blood:	n/a
10	chr3:120626881-120626931	AG04449	skin:	fetal
11	chr3:120501329-120501379	HCF	heart:	n/a
12	chr3:120558040-120558090	ProgFib	skin:	n/a
13	chr3:120628291-120628341	HAEpiC	amniotic membrane:	n/a
14	chr3:120501329-120501379	Hela-S3	cervix:	n/a
15	chr3:120628544-120628594	HUVEC	blood vessel:	n/a
16	chr3:120623485-120623535	NHBE	bronchial:	n/a
17	chr3:120490086-120490136	HCT-116	colon:	n/a
18	chr3:120627085-120627135	AG04449	skin:	fetal
19	chr3:120626653-120626703	NH-A	brain:	n/a
20	chr3:120626881-120626931	AG09309	skin:	n/a
21	chr3:120627085-120627135	Jurkat	blood:	n/a
22	chr3:120627088-120627138	Hela-S3	cervix:	n/a
23	chr3:120627170-120627220	HCM	heart:	n/a
24	chr3:120627406-120627456	GM12892	blood:	n/a
25	chr3:120626881-120626931	HCM	heart:	n/a
26	chr3:120623485-120623535	HL-60	blood:	n/a
27	chr3:120626667-120626717	HUVEC	blood vessel:	n/a
28	chr3:120501329-120501379	RPTEC	kidney:	n/a
29	chr3:120499981-120500031	HPAEpiC	pulmonary alveolar:	n/a
30	chr3:120626653-120626703	Jurkat	blood:	n/a
31	chr3:120628291-120628341	AG09309	skin:	n/a
32	chr3:120628544-120628594	AG04449	skin:	fetal
33	chr3:120626881-120626931	PFSK-1	brain:	n/a
34	chr3:120627088-120627138	GM19239	blood:	n/a
35	chr3:120555756-120555806	GM12892	blood:	n/a
36	chr3:120499981-120500031	GM12891	blood:	n/a
37	chr3:120627088-120627138	A549	lung:	n/a
38	chr3:120628544-120628594	HCM	heart:	n/a
39	chr3:120627170-120627220	Hepatocyte	liver:	n/a
40	chr3:120626653-120626703	HL-60	blood:	n/a
41	chr3:120499981-120500031	HEK293	kidney:	embryo
42	chr3:120628291-120628341	AG04449	skin:	fetal
43	chr3:120628544-120628594	HMEC	breast:	n/a
44	chr3:120627085-120627135	ECC-1	luminal epithelium:	n/a
45	chr3:120628291-120628341	SK-N-SH	brain:	n/a
46	chr3:120511839-120511889	HEEpiC	esophagus:	n/a
47	chr3:120628544-120628594	HepG2	liver:	n/a
48	chr3:120628291-120628341	HCF	heart:	n/a
49	chr3:120626911-120626961	IMR90	lung:	fetal
50	chr3:120555756-120555806	BE2_C	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr3:120459987..120462376-chr3:120486365..120489094,2	MCF-7	breast:
2	chr3:120460604..120462177-chr3:120520027..120522564,2	MCF-7	breast:
3	chr3:120313637..120315833-chr3:120512529..120515092,2	MCF-7	breast:
4	chr15:65596643..65597514-chr3:120607264..120608054,2	Hela-S3	cervix:
5	chr3:120525378..120528266-chr3:120530394..120532129,2	K562	blood:
6	chr3:120490765..120494305-chr3:120495076..120499796,4	K562	blood:
7	chr3:120490765..120494305-chr3:120495076..120499796,4	K562	blood:
8	chr3:120517564..120519300-chr3:120520077..120521672,2	K562	blood:
9	chr3:120461336..120464065-chr3:120475232..120478605,3	K562	blood:
10	chr3:120474492..120477463-chr3:120486835..120489178,2	K562	blood:
11	chr3:120279797..120280809-chr3:120513558..120514502,6	MCF-7	breast:
12	chr3:120279971..120280796-chr3:120513577..120514769,5	K562	blood:
13	chr3:120542682..120544561-chr3:120555913..120557968,2	MCF-7	breast:
14	chr3:120517564..120519300-chr3:120520077..120521672,2	K562	blood:
15	chr3:120279832..120280786-chr3:120513592..120514490,6	MCF-7	breast:
16	chr3:120500523..120502536-chr3:120506271..120508134,2	K562	blood:
17	chr3:120459863..120463133-chr3:120465920..120470912,5	K562	blood:
18	chr3:120342144..120344111-chr3:120512256..120514740,2	K562	blood:
19	chr3:120500523..120502536-chr3:120506271..120508134,2	K562	blood:
20	chr3:120491622..120494305-chr3:120496483..120498559,2	K562	blood:
21	chr3:120484993..120486809-chr3:120488357..120490083,2	K562	blood:
22	chr3:120577947..120579807-chr3:120583739..120586001,2	K562	blood:
23	chr3:120460945..120463324-chr3:120481633..120483681,2	K562	blood:
24	chr3:120459962..120462838-chr3:120467772..120469479,2	MCF-7	breast:
25	chr3:63855495..63857166-chr3:120645241..120646741,2	MCF-7	breast:
26	chr3:120525378..120528266-chr3:120530394..120532129,2	K562	blood:
27	chr3:120542682..120544561-chr3:120555913..120557968,2	MCF-7	breast:
28	chr15:80385200..80385730-chr3:120644323..120645196,2	MCF-7	breast:
29	chr3:120506049..120507948-chr3:120510885..120512477,2	MCF-7	breast:
30	chr3:120577947..120579807-chr3:120583739..120586001,2	K562	blood:
31	chr3:120341598..120342496-chr3:120513592..120514539,5	MCF-7	breast:
32	chr3:120594371..120596950-chr3:120603691..120605382,2	K562	blood:
33	chr3:120578478..120580456-chr3:120587520..120589951,2	K562	blood:
34	chr3:120495942..120499120-chr3:120500885..120503419,3	MCF-7	breast:
35	chr3:120460113..120461922-chr3:120512170..120514809,2	MCF-7	breast:
36	chr3:120313513..120316434-chr3:120515980..120517964,2	K562	blood:
37	chr3:120380140..120380795-chr3:120513787..120514545,2	MCF-7	breast:
38	chr3:120534128..120535002-chr6:48367967..48368684,2	MCF-7	breast:
39	chr3:120594371..120596950-chr3:120603691..120605382,2	K562	blood:
40	chr3:120491622..120494305-chr3:120496483..120498559,2	K562	blood:
41	chr3:120487335..120490044-chr3:120518246..120520053,2	K562	blood:
42	chr3:120487335..120490044-chr3:120518246..120520053,2	K562	blood:
43	chr3:120495942..120499120-chr3:120500885..120503419,3	MCF-7	breast:
44	chr3:120469262..120472636-chr3:120473122..120476515,3	MCF-7	breast:
45	chr3:120506049..120507948-chr3:120510885..120512477,2	MCF-7	breast:
46	chr3:120286252..120286774-chr3:120513818..120514517,2	MCF-7	breast:
47	chr3:120474492..120477463-chr3:120486835..120489178,2	K562	blood:
48	chr3:120578478..120580456-chr3:120587520..120589951,2	K562	blood:
49	chr3:120469262..120472636-chr3:120473122..120476515,3	MCF-7	breast:
50	chr3:120484993..120486809-chr3:120488357..120490083,2	K562	blood:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RABL3-1	chr3:120555116-120555204	XLOC_003226
2	lnc-RABL3-2	chr3:120587125-120587230	XLOC_003227
3	lnc-RABL3-1	chr3:120555116-120555220	XLOC_003226
4	lnc-RABL3-1	chr3:120552287-120552941	XLOC_003226
5	lnc-RABL3-1	chr3:120552287-120552941	ENSG00000243593
6	lnc-GTF2E1-2	chr3:120630077-120632110	ncRnaDb_ncrna_FR029612_1
7	lnc-RABL3-4	chr3:120643459-120643509	NONHSAT091465
8	lnc-RABL3-2	chr3:120591024-120591100	XLOC_003227
9	lnc-RABL3-2	chr3:120626876-120626902	XLOC_003227
10	lnc-RABL3-1	chr3:120530352-120531535	XLOC_003226
11	lnc-RABL3-1	chr3:120531328-120531535	NONHSAT091462
12	lnc-RABL3-1	chr3:120555116-120555207	ENSG00000243593
13	lnc-RABL3-4	chr3:120643856-120644005	NONHSAT091465
14	lnc-RABL3-1	chr3:120542173-120542217	NONHSAT091462

No data

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	GTF2E1	hsa-let-7f-5p	chr3:120500775-120500797
2	GTF2E1	hsa-miR-361-5p	chr3:120501681-120501687
3	GTF2E1	hsa-miR-221-3p	chr3:120501673-120501694
4	GTF2E1	hsa-miR-221-3p	chr3:120501687-120501694
5	GTF2E1	hsa-miR-361-5p	chr3:120501667-120501688

Variant related genes	Relation type
NAP1L1P3	TF binding region
ENSG00000270782	TF binding region
ENSG00000243593	TF binding region
STXBP5L	TF binding region
NAP1L1P3	CpG island
ENSG00000270782	CpG island
ENSG00000243593	CpG island
STXBP5L	CpG island
ENSG00000144840	chromatin interactions
ENSG00000065518	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000153767	chromatin interactions

Extended variants
information (count: 5287 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:5287 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540221883	chr3:120469213-120469214	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs141820319	chr3:120469258-120469259	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs72962654	chr3:120469281-120469282	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs371560373	chr3:120469325-120469326	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs565897505	chr3:120469326-120469327	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs75878265	chr3:120469327-120469328	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs200639912	chr3:120469355-120469356	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs571206282	chr3:120469362-120469363	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs374032554	chr3:120469372-120469373	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs370873762	chr3:120469383-120469384	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs199539749	chr3:120469389-120469390	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs556947801	chr3:120469393-120469394	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs374220014	chr3:120469394-120469395	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs368928799	chr3:120469400-120469401	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs150809090	chr3:120469406-120469407	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs371166324	chr3:120469420-120469421	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs186444035	chr3:120469422-120469423	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs200025847	chr3:120469445-120469446	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs553760300	chr3:120469463-120469464	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs375390678	chr3:120469466-120469467	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs201779469	chr3:120469467-120469468	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs573424254	chr3:120469481-120469482	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs146072078	chr3:120469550-120469551	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs139408677	chr3:120469577-120469578	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs573561687	chr3:120469582-120469583	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs200498969	chr3:120469629-120469630	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs141149409	chr3:120469633-120469634	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs544883405	chr3:120469643-120469644	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs563292578	chr3:120469646-120469647	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs200777200	chr3:120469648-120469649	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs549098432	chr3:120469666-120469667	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs144112214	chr3:120469688-120469689	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs528335299	chr3:120469689-120469690	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs371604368	chr3:120469747-120469748	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs571070107	chr3:120469767-120469768	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs536965743	chr3:120469783-120469784	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs376963110	chr3:120469791-120469792	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs556815069	chr3:120469802-120469803	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs543565120	chr3:120469866-120469867	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs375342382	chr3:120469880-120469881	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs567684300	chr3:120469916-120469917	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs563642790	chr3:120469929-120469930	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs536241856	chr3:120469942-120469943	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs553478308	chr3:120469960-120469961	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs190843715	chr3:120469988-120469989	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs545440767	chr3:120469991-120469992	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs146481914	chr3:120470005-120470006	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs575876642	chr3:120470023-120470024	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs542883097	chr3:120470027-120470028	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs9838458	chr3:120470070-120470071	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:63)

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
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
T-cell acute lymphoblastic leukemia	18185524	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21645411	CNVD
Autism	22241247	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1926 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120462400-120471400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr3:120462600-120495200	Weak transcription	Aorta	Aorta
3	chr3:120462800-120469400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:120462800-120469400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:120462800-120469400	Weak transcription	Placenta	Placenta
6	chr3:120462800-120469400	Weak transcription	Lung	lung
7	chr3:120462800-120469400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:120462800-120469400	Weak transcription	HSMMtube	muscle
9	chr3:120462800-120472200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:120462800-120473000	Weak transcription	Brain Anterior Caudate	brain
11	chr3:120462800-120483000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:120462800-120485600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:120462800-120499800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:120462800-120500000	Weak transcription	Gastric	stomach
15	chr3:120462800-120503000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr3:120463000-120469200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr3:120463000-120469200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:120463000-120469400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:120463000-120469400	Weak transcription	Primary T cells from cord blood	blood
20	chr3:120463000-120469400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr3:120463000-120469400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:120463000-120469400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr3:120463000-120469400	Weak transcription	Esophagus	oesophagus
24	chr3:120463000-120469400	Weak transcription	Fetal Stomach	stomach
25	chr3:120463000-120469400	Weak transcription	Fetal Thymus	thymus
26	chr3:120463000-120469400	Weak transcription	Left Ventricle	heart
27	chr3:120463000-120469400	Weak transcription	Ovary	ovary
28	chr3:120463000-120469400	Weak transcription	Psoas Muscle	Psoas
29	chr3:120463000-120469400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr3:120463000-120469400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr3:120463000-120469400	Weak transcription	HSMM	muscle
32	chr3:120463000-120469400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr3:120463000-120470000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr3:120463000-120472000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:120463000-120472000	Weak transcription	Stomach Mucosa	stomach
36	chr3:120463000-120472600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr3:120463000-120473200	Weak transcription	NHLF	lung
38	chr3:120463000-120477800	Weak transcription	Spleen	Spleen
39	chr3:120463000-120482400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr3:120463000-120484800	Weak transcription	K562	blood
41	chr3:120463000-120485600	Weak transcription	Pancreas	Pancrea
42	chr3:120463000-120485600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr3:120463000-120485600	Weak transcription	HMEC	breast
44	chr3:120463000-120493600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr3:120463000-120496000	Weak transcription	Fetal Lung	lung
46	chr3:120463000-120499800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr3:120463000-120502000	Weak transcription	Colonic Mucosa	Colon
48	chr3:120463000-120504200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr3:120463000-120504800	Weak transcription	Fetal Brain Male	brain
50	chr3:120463200-120469200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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