Variant report

Variant	nsv830170
Chromosome Location	chr1:71856447-72008758
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:71950573-71950579	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL11A	chr1:71928031-71928271	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL11A	chr1:71927983-71928296	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr1:71956157-71956480	GM12878	blood:	n/a	n/a
5	BCL3	chr1:71953062-71953428	GM12878	blood:	n/a	n/a
6	BCL3	chr1:71953142-71953384	GM12878	blood:	n/a	n/a
7	BCL3	chr1:71956137-71956395	GM12878	blood:	n/a	n/a
8	CEBPB	chr1:71928888-71929212	IMR90	lung:	n/a	n/a
9	CEBPB	chr1:71888601-71888799	HepG2	liver:	n/a	chr1:71888661-71888674 chr1:71888663-71888672 chr1:71888661-71888672
10	CEBPB	chr1:71930968-71931163	A549	lung:	n/a	chr1:71931145-71931162 chr1:71931065-71931076
11	CEBPB	chr1:71914147-71914509	HepG2	liver:	n/a	chr1:71914318-71914331 chr1:71914318-71914331 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914319-71914330
12	CEBPB	chr1:71930934-71931218	HepG2	liver:	n/a	chr1:71931145-71931162 chr1:71931065-71931076
13	CEBPB	chr1:71914163-71914470	H1-hESC	embryonic stem cell:	n/a	chr1:71914318-71914331 chr1:71914318-71914331 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914319-71914330
14	CEBPB	chr1:71914161-71914482	A549	lung:	n/a	chr1:71914318-71914331 chr1:71914318-71914331 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914319-71914330
15	CEBPB	chr1:71956151-71956460	IMR90	lung:	n/a	n/a
16	CEBPB	chr1:71902907-71903169	IMR90	lung:	n/a	chr1:71903029-71903040
17	CEBPB	chr1:71857351-71857492	K562	blood:	n/a	chr1:71857386-71857397
18	CEBPB	chr1:71914196-71914408	Hela-S3	cervix:	n/a	chr1:71914318-71914331 chr1:71914318-71914331 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914319-71914330
19	CEBPB	chr1:72008364-72008562	HepG2	liver:	n/a	n/a
20	CEBPB	chr1:71914227-71914476	K562	blood:	n/a	chr1:71914318-71914331 chr1:71914318-71914331 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914319-71914330
21	CEBPB	chr1:71923017-71923331	IMR90	lung:	n/a	n/a
22	CEBPB	chr1:71857297-71857513	A549	lung:	n/a	chr1:71857386-71857397
23	CEBPB	chr1:71964273-71964584	HepG2	liver:	n/a	chr1:71964419-71964432 chr1:71964419-71964430 chr1:71964419-71964432 chr1:71964419-71964432 chr1:71964420-71964431
24	CEBPB	chr1:71857313-71857530	H1-hESC	embryonic stem cell:	n/a	chr1:71857386-71857397
25	CEBPB	chr1:71956153-71956490	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr1:71914156-71914512	IMR90	lung:	n/a	chr1:71914318-71914331 chr1:71914318-71914331 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914319-71914330
27	CEBPB	chr1:71961511-71961727	IMR90	lung:	n/a	n/a
28	CEBPB	chr1:71959895-71960217	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr1:71956190-71956394	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr1:71964266-71964603	IMR90	lung:	n/a	chr1:71964419-71964432 chr1:71964419-71964430 chr1:71964419-71964432 chr1:71964419-71964432 chr1:71964420-71964431
31	CEBPB	chr1:71959918-71960236	IMR90	lung:	n/a	n/a
32	CEBPB	chr1:71964324-71964524	H1-hESC	embryonic stem cell:	n/a	chr1:71964419-71964432 chr1:71964419-71964430 chr1:71964419-71964432 chr1:71964419-71964432 chr1:71964420-71964431
33	CEBPB	chr1:71857220-71857566	IMR90	lung:	n/a	chr1:71857386-71857397
34	CEBPB	chr1:71859079-71859300	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr1:71914214-71914552	MCF-7	breast:	n/a	chr1:71914318-71914331 chr1:71914318-71914331 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914319-71914330
36	CEBPB	chr1:71902874-71903109	HepG2	liver:	n/a	chr1:71903029-71903040
37	CEBPB	chr1:71927446-71927664	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr1:71857247-71857472	HepG2	liver:	n/a	chr1:71857386-71857397
39	CHD1	chr1:71928390-71928678	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr1:71987466-71987610	K562	blood:	n/a	chr1:71987534-71987550 chr1:71987533-71987551 chr1:71987528-71987549 chr1:71987540-71987547
41	CTCF	chr1:71987435-71987652	Gliobla	brain:	n/a	chr1:71987534-71987550 chr1:71987533-71987551 chr1:71987528-71987549 chr1:71987540-71987547
42	CTCF	chr1:71987460-71987610	HPAF	blood vessel:	n/a	chr1:71987534-71987550 chr1:71987533-71987551 chr1:71987528-71987549 chr1:71987540-71987547
43	CTCF	chr1:71987443-71987651	HepG2	liver:	n/a	chr1:71987534-71987550 chr1:71987533-71987551 chr1:71987528-71987549 chr1:71987540-71987547
44	CTCF	chr1:71987440-71987590	HUVEC	blood vessel:	n/a	chr1:71987534-71987550 chr1:71987533-71987551 chr1:71987528-71987549 chr1:71987540-71987547
45	CTCF	chr1:71987560-71987710	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr1:71987442-71987651	MCF-7	breast:	n/a	chr1:71987534-71987550 chr1:71987533-71987551 chr1:71987528-71987549 chr1:71987540-71987547
47	CTCF	chr1:71987460-71987610	HUVEC	blood vessel:	n/a	chr1:71987534-71987550 chr1:71987533-71987551 chr1:71987528-71987549 chr1:71987540-71987547
48	CTCF	chr1:71987395-71987707	MCF-7	breast:	n/a	chr1:71987534-71987550 chr1:71987533-71987551 chr1:71987528-71987549 chr1:71987540-71987547
49	CTCF	chr1:71987380-71987530	WI-38	lung:	n/a	n/a
50	CTCF	chr1:71987480-71987630	HPAF	blood vessel:	n/a	chr1:71987534-71987550 chr1:71987533-71987551 chr1:71987528-71987549 chr1:71987540-71987547

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:71929976-71930026	HMEC	breast:	n/a
2	chr1:71929976-71930026	NHBE	bronchial:	n/a
3	chr1:71904426-71904476	HRCEpiC	kidney:	n/a
4	chr1:71904426-71904476	GM06990	blood:	n/a
5	chr1:71904426-71904476	HIPEpiC	eye:	n/a
6	chr1:71929976-71930026	HIPEpiC	eye:	n/a
7	chr1:71929976-71930026	HL-60	blood:	n/a
8	chr1:71904426-71904476	HCPEpiC	choroid plexus:	n/a
9	chr1:71904426-71904476	A549	lung:	n/a
10	chr1:71929976-71930026	GM12892	blood:	n/a
11	chr1:71904426-71904476	BJ	skin:	n/a
12	chr1:71929976-71930026	GM12878	blood:	n/a
13	chr1:71904426-71904476	AoSMC	blood vessel:	n/a
14	chr1:71904426-71904476	AG04450	lung:	fetal
15	chr1:71904426-71904476	CMK	blood:	n/a
16	chr1:71904426-71904476	NHDF-neo	bronchial:	n/a
17	chr1:71904426-71904476	HEK293	kidney:	embryo
18	chr1:71929976-71930026	K562	blood:	n/a
19	chr1:71929976-71930026	ovcar-3	ovarian:	n/a
20	chr1:71929976-71930026	HCF	heart:	n/a
21	chr1:71929976-71930026	MCF-7	breast:	n/a
22	chr1:71929976-71930026	IMR90	lung:	fetal
23	chr1:71904426-71904476	HAEpiC	amniotic membrane:	n/a
24	chr1:71904426-71904476	HRPEpiC	eye:	n/a
25	chr1:71904426-71904476	HL-60	blood:	n/a
26	chr1:71929976-71930026	PFSK-1	brain:	n/a
27	chr1:71904426-71904476	LNCaP	prostate:	n/a
28	chr1:71929976-71930026	BE2_C	brain:	n/a
29	chr1:71929976-71930026	Hela-S3	cervix:	n/a
30	chr1:71929976-71930026	H1-hESC	embryonic stem cell:	embryo
31	chr1:71929976-71930026	AG04450	lung:	fetal
32	chr1:71929976-71930026	SK-N-SH_RA	brain:	n/a
33	chr1:71929976-71930026	MCF10A-Er-Src	breast:	n/a
34	chr1:71904426-71904476	HCT-116	colon:	n/a
35	chr1:71929976-71930026	HAEpiC	amniotic membrane:	n/a
36	chr1:71904426-71904476	GM12892	blood:	n/a
37	chr1:71904426-71904476	PrEC	prostate:	n/a
38	chr1:71904426-71904476	MCF10A-Er-Src	breast:	n/a
39	chr1:71904426-71904476	HCM	heart:	n/a
40	chr1:71904426-71904476	Hela-S3	cervix:	n/a
41	chr1:71904426-71904476	AG04449	skin:	fetal
42	chr1:71904426-71904476	ECC-1	luminal epithelium:	n/a
43	chr1:71904426-71904476	T-47D	breast:	n/a
44	chr1:71929976-71930026	HPAEpiC	pulmonary alveolar:	n/a
45	chr1:71929976-71930026	HRCEpiC	kidney:	n/a
46	chr1:71929976-71930026	SKMC	muscle:	n/a
47	chr1:71904426-71904476	NHBE	bronchial:	n/a
48	chr1:71904426-71904476	ovcar-3	ovarian:	n/a
49	chr1:71904426-71904476	K562	blood:	n/a
50	chr1:71929976-71930026	NT2-D1	testis:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:71914181..71914987-chr1:71994857..71995392,2	MCF-7	breast:
2	chr1:71914328..71914976-chr1:71927298..71927813,2	MCF-7	breast:
3	chr1:71999742..72002338-chr1:72004237..72006928,2	K562	blood:
4	chr1:71999742..72002338-chr1:72004237..72006928,2	K562	blood:
5	chr1:71926381..71928732-chr1:71944427..71946345,2	K562	blood:
6	chr1:71913901..71916757-chr1:71917212..71919277,2	K562	blood:
7	chr1:71942559..71944248-chr1:71944744..71947074,2	MCF-7	breast:
8	chr1:71662232..71663221-chr1:71987100..71987819,3	MCF-7	breast:
9	chr1:71914328..71914851-chr1:71927223..71927813,2	MCF-7	breast:
10	chr1:71941950..71944127-chr1:71948756..71950368,2	K562	blood:
11	chr1:71914108..71914677-chr16:85554351..85554911,2	MCF-7	breast:
12	chr1:71885933..71887641-chr1:71889181..71890999,2	K562	blood:
13	chr1:71942559..71944248-chr1:71944744..71947074,2	MCF-7	breast:
14	chr1:71914037..71914921-chr1:71926795..71927704,3	MCF-7	breast:
15	chr1:71920535..71922572-chr1:71923828..71926094,2	MCF-7	breast:
16	chr1:71914328..71914851-chr1:71927223..71927813,2	MCF-7	breast:
17	chr1:71914181..71914987-chr1:71994857..71995392,2	MCF-7	breast:
18	chr1:71914037..71914921-chr1:71926795..71927704,3	MCF-7	breast:
19	chr1:71941193..71943663-chr1:71947061..71948900,2	K562	blood:
20	chr1:71914328..71914976-chr1:71927298..71927813,2	MCF-7	breast:
21	chr1:71941193..71943663-chr1:71947061..71948900,2	K562	blood:
22	chr1:71920535..71922572-chr1:71923828..71926094,2	MCF-7	breast:
23	chr1:71662166..71663092-chr1:71987067..71987944,4	MCF-7	breast:
24	chr1:71915989..71918426-chr1:72103464..72106010,2	K562	blood:
25	chr1:71913901..71916757-chr1:71917212..71919277,2	K562	blood:
26	chr1:71941950..71944127-chr1:71948756..71950368,2	K562	blood:
27	chr1:71924869..71926479-chr1:71926979..71928831,2	MCF-7	breast:
28	chr1:71924869..71926479-chr1:71926979..71928831,2	MCF-7	breast:
29	chr1:71926381..71928732-chr1:71944427..71946345,2	K562	blood:
30	chr1:71885933..71887641-chr1:71889181..71890999,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTH-6	chr1:71874621-71874694	ENSG00000229956.5
2	lnc-CTH-6	chr1:71873304-71873367	ENSG00000229956.5
3	lnc-CTH-6	chr1:71950469-71950519	ENSG00000229956.5
4	lnc-CTH-6	chr1:71929092-71929208	ENSG00000229956.5
5	lnc-CTH-6	chr1:71874621-71874694	ENSG00000229956.5
6	lnc-CTH-6	chr1:71929014-71929184	ENSG00000229956.2
7	lnc-CTH-6	chr1:71927244-71927500	ENSG00000229956.5
8	lnc-CTH-6	chr1:71929014-71929208	ENSG00000229956.5
9	lnc-CTH-6	chr1:71874621-71874694	ENSG00000229956.5
10	lnc-CTH-6	chr1:71955391-71955652	ENSG00000229956.5
11	lnc-CTH-6	chr1:71952081-71952130	ENSG00000229956.5
12	lnc-CTH-6	chr1:71873304-71873407	ENSG00000227126.1
13	lnc-CTH-6	chr1:71867406-71867562	ENSG00000229956.2
14	lnc-CTH-6	chr1:71867406-71867562	ENSG00000229956.5
15	lnc-CTH-6	chr1:71888187-71888658	ENSG00000229956.5
16	lnc-CTH-6	chr1:71874621-71874694	ENSG00000229956.5
17	lnc-CTH-6	chr1:71953674-71953831	ENSG00000229956.5
18	lnc-CTH-6	chr1:71938265-71938324	ENSG00000229956.5
19	lnc-CTH-6	chr1:71887053-71887155	ENSG00000229956.5
20	lnc-CTH-6	chr1:71867405-71867562	ENSG00000229956.5
21	lnc-CTH-6	chr1:71873316-71873554	ENSG00000229956.5
22	lnc-CTH-6	chr1:71868179-71868254	ENSG00000227126.1
23	lnc-CTH-6	chr1:71929014-71929208	ENSG00000229956.5
24	lnc-CTH-6	chr1:71938265-71938324	ENSG00000229956.5
25	lnc-CTH-6	chr1:71867406-71867562	ENSG00000229956.5
26	lnc-CTH-6	chr1:71873316-71873554	ENSG00000229956.5
27	lnc-CTH-6	chr1:71950469-71950519	ENSG00000229956.5
28	lnc-CTH-6	chr1:71952081-71952217	ENSG00000229956.5
29	lnc-CTH-6	chr1:71873304-71873362	ENSG00000229956.5
30	lnc-CTH-6	chr1:71873304-71873341	ENSG00000229956.5
31	lnc-CTH-6	chr1:71874622-71874694	ENSG00000229956.5
32	lnc-CTH-6	chr1:71955391-71955586	ENSG00000229956.5
33	lnc-CTH-6	chr1:71867406-71867562	ENSG00000229956.5
34	lnc-CTH-6	chr1:71929014-71929063	ENSG00000229956.5
35	lnc-CTH-6	chr1:71953674-71953831	ENSG00000229956.5
36	lnc-CTH-6	chr1:71873304-71873367	ENSG00000229956.5
37	lnc-CTH-6	chr1:71873327-71873498	ENSG00000229956.5
38	lnc-CTH-6	chr1:71952081-71952751	ENSG00000229956.5
39	lnc-CTH-6	chr1:71888187-71888658	ENSG00000229956.5
40	lnc-CTH-6	chr1:71933967-71934193	ENSG00000229956.5
41	lnc-CTH-6	chr1:71950469-71950519	ENSG00000229956.5
42	lnc-CTH-6	chr1:71868179-71868254	ENSG00000229956.5
43	lnc-CTH-6	chr1:71867782-71868254	ENSG00000229956.5
44	lnc-CTH-6	chr1:71873327-71873498	ENSG00000229956.5
45	lnc-CTH-6	chr1:71927244-71927500	ENSG00000229956.5
46	lnc-CTH-6	chr1:71867530-71867562	ENSG00000227126.1
47	lnc-CTH-6	chr1:71952081-71952196	ENSG00000229956.5
48	lnc-CTH-6	chr1:71887053-71887155	ENSG00000229956.5
49	lnc-CTH-6	chr1:71873323-71873554	ENSG00000229956.5

Variant related genes	Relation type
NEGR1	TF binding region
ZRANB2-AS2	TF binding region
NEGR1	CpG island
ZRANB2-AS2	CpG island

Extended variants
information (count: 2784 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:2784 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79418437	chr1:71856606-71856607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564132258	chr1:71856622-71856623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532759633	chr1:71856628-71856629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546885292	chr1:71856671-71856672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560443759	chr1:71856674-71856675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140877602	chr1:71856689-71856690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549192953	chr1:71856719-71856720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113778511	chr1:71856723-71856724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537571346	chr1:71856737-71856738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188804135	chr1:71856739-71856740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539402982	chr1:71856755-71856756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373214813	chr1:71856764-71856765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553298882	chr1:71856778-71856779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7541158	chr1:71856793-71856794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs181319733	chr1:71856805-71856806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35985741	chr1:71856858-71856859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75155686	chr1:71856877-71856878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185582628	chr1:71856886-71856887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575722977	chr1:71856910-71856911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544312533	chr1:71856958-71856959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72930594	chr1:71856959-71856960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540397043	chr1:71856968-71856969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183256956	chr1:71856991-71856992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540231961	chr1:71857010-71857011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528953643	chr1:71857047-71857048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112055349	chr1:71857060-71857061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376288861	chr1:71857103-71857104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369080721	chr1:71857104-71857105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544312823	chr1:71857127-71857128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12048759	chr1:71857172-71857173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144938791	chr1:71857244-71857245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145850189	chr1:71857272-71857273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369072811	chr1:71857314-71857315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562685724	chr1:71857377-71857378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149039764	chr1:71857392-71857393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187634158	chr1:71857393-71857394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1605261	chr1:71857402-71857403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs191951982	chr1:71857428-71857429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576481752	chr1:71857430-71857431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539052542	chr1:71857432-71857433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11590810	chr1:71857454-71857455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs369120385	chr1:71857463-71857464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566852204	chr1:71857470-71857471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535768501	chr1:71857473-71857474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555606785	chr1:71857567-71857568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182294297	chr1:71857568-71857569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538009797	chr1:71857571-71857572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557882837	chr1:71857614-71857615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577657073	chr1:71857616-71857617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540268514	chr1:71857626-71857627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
body mass index	19812545	CNVD
Obesity	20935630	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71856600-71868200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:71858200-71859600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
3	chr1:71858200-71859800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:71858400-71859400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:71858400-71859600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
6	chr1:71858600-71858800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
7	chr1:71858600-71859200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
8	chr1:71858600-71859400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
9	chr1:71859000-71859600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:71859200-71859600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:71859400-71859600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
12	chr1:71859600-71859800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:71864600-71864800	Enhancers	Fetal Lung	lung
14	chr1:71865200-71865600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:71865400-71865600	Enhancers	Fetal Lung	lung
16	chr1:71865400-71866000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:71865400-71866200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:71865600-71866200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:71865800-71866200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:71871400-71873800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr1:71872200-71873800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr1:71877600-71878800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:71877600-71878800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:71877800-71880800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:71878800-71879200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:71878800-71879400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:71878800-71880800	Enhancers	Fetal Lung	lung
28	chr1:71879000-71880600	Enhancers	Adipose Nuclei	Adipose
29	chr1:71879200-71879600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr1:71879200-71879800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:71879400-71879800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:71879400-71880600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr1:71879600-71880400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr1:71879800-71880200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:71879800-71880400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:71879800-71880400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:71879800-71880400	Enhancers	NHDF-Ad	bronchial
38	chr1:71879800-71880600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr1:71879800-71880600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:71879800-71880800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr1:71879800-71880800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr1:71880000-71880600	Enhancers	Brain Germinal Matrix	brain
43	chr1:71880200-71880600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:71880200-71880800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr1:71880200-71880800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr1:71880400-71880600	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr1:71880400-71880800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:71880600-71886400	Weak transcription	Brain Germinal Matrix	brain
49	chr1:71880800-71881400	Weak transcription	Fetal Lung	lung
50	chr1:71881400-71881600	Enhancers	Fetal Lung	lung

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