Variant report

Variant	nsv1005726
Chromosome Location	chr1:71701840-71953242
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:658)
CpG islands
(count:183)
Chromatin interactive
region (count:29)
LncRNA
region (count:60)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:658 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:71778691-71778792	K562	blood:	n/a	n/a
2	ATF1	chr1:71719024-71719150	K562	blood:	n/a	n/a
3	ATF1	chr1:71758441-71758554	K562	blood:	n/a	n/a
4	ATF1	chr1:71839584-71839653	K562	blood:	n/a	n/a
5	BACH1	chr1:71773289-71773496	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr1:71950573-71950579	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr1:71773244-71773527	GM12878	blood:	n/a	chr1:71773395-71773406
8	BCL11A	chr1:71927983-71928296	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL11A	chr1:71928031-71928271	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr1:71953142-71953384	GM12878	blood:	n/a	n/a
11	BCL3	chr1:71953062-71953428	GM12878	blood:	n/a	n/a
12	BRCA1	chr1:71727383-71727432	GM12878	blood:	n/a	n/a
13	BRCA1	chr1:71706352-71706362	GM12878	blood:	n/a	n/a
14	BRCA1	chr1:71823557-71823623	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr1:71718618-71719024	ECC-1	luminal epithelium:	n/a	chr1:71718771-71718780 chr1:71718770-71718781
16	CEBPB	chr1:71859079-71859300	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr1:71721236-71721432	HepG2	liver:	n/a	chr1:71721317-71721330 chr1:71721317-71721330 chr1:71721319-71721330 chr1:71721319-71721330 chr1:71721317-71721328 chr1:71721317-71721330
18	CEBPB	chr1:71718599-71718953	IMR90	lung:	n/a	chr1:71718771-71718780 chr1:71718770-71718781
19	CEBPB	chr1:71857297-71857513	A549	lung:	n/a	chr1:71857386-71857397
20	CEBPB	chr1:71769898-71770122	Hela-S3	cervix:	n/a	chr1:71769975-71769986 chr1:71769975-71769988
21	CEBPB	chr1:71715978-71716075	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr1:71928888-71929212	IMR90	lung:	n/a	n/a
23	CEBPB	chr1:71718652-71718954	ECC-1	luminal epithelium:	n/a	chr1:71718771-71718780 chr1:71718770-71718781
24	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
25	CEBPB	chr1:71857313-71857530	H1-hESC	embryonic stem cell:	n/a	chr1:71857386-71857397
26	CEBPB	chr1:71902907-71903169	IMR90	lung:	n/a	chr1:71903029-71903040
27	CEBPB	chr1:71927446-71927664	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr1:71930934-71931218	HepG2	liver:	n/a	chr1:71931145-71931162 chr1:71931065-71931076
29	CEBPB	chr1:71718625-71718915	Hela-S3	cervix:	n/a	chr1:71718771-71718780 chr1:71718770-71718781
30	CEBPB	chr1:71817163-71817558	IMR90	lung:	n/a	n/a
31	CEBPB	chr1:71718590-71718927	A549	lung:	n/a	chr1:71718771-71718780 chr1:71718770-71718781
32	CEBPB	chr1:71857351-71857492	K562	blood:	n/a	chr1:71857386-71857397
33	CEBPB	chr1:71902874-71903109	HepG2	liver:	n/a	chr1:71903029-71903040
34	CEBPB	chr1:71923017-71923331	IMR90	lung:	n/a	n/a
35	CEBPB	chr1:71857247-71857472	HepG2	liver:	n/a	chr1:71857386-71857397
36	CEBPB	chr1:71718618-71718844	H1-hESC	embryonic stem cell:	n/a	chr1:71718771-71718780 chr1:71718770-71718781
37	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
38	CEBPB	chr1:71857220-71857566	IMR90	lung:	n/a	chr1:71857386-71857397
39	CEBPB	chr1:71718601-71718957	HepG2	liver:	n/a	chr1:71718771-71718780 chr1:71718770-71718781
40	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
41	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
42	CEBPB	chr1:71888601-71888799	HepG2	liver:	n/a	chr1:71888661-71888674 chr1:71888663-71888672 chr1:71888661-71888672
43	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
44	CEBPB	chr1:71831103-71831451	IMR90	lung:	n/a	n/a
45	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
46	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
47	CEBPB	chr1:71930968-71931163	A549	lung:	n/a	chr1:71931145-71931162 chr1:71931065-71931076
48	CHD1	chr1:71928390-71928678	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr1:71823524-71823637	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr1:71809800-71809950	HVMF	connective:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:71904426-71904476	Jurkat	blood:	n/a
2	chr1:71929976-71930026	PrEC	prostate:	n/a
3	chr1:71830814-71830864	CMK	blood:	n/a
4	chr1:71830814-71830864	NHDF-neo	bronchial:	n/a
5	chr1:71904426-71904476	SAEC	small airway:	n/a
6	chr1:71904426-71904476	NT2-D1	testis:	n/a
7	chr1:71929976-71930026	GM12878	blood:	n/a
8	chr1:71904426-71904476	HAEpiC	amniotic membrane:	n/a
9	chr1:71904426-71904476	HCPEpiC	choroid plexus:	n/a
10	chr1:71929976-71930026	NT2-D1	testis:	n/a
11	chr1:71929976-71930026	HRCEpiC	kidney:	n/a
12	chr1:71904426-71904476	PFSK-1	brain:	n/a
13	chr1:71904426-71904476	MCF10A-Er-Src	breast:	n/a
14	chr1:71929976-71930026	T-47D	breast:	n/a
15	chr1:71830814-71830864	HRE	kidney:	n/a
16	chr1:71904426-71904476	GM12891	blood:	n/a
17	chr1:71904426-71904476	LNCaP	prostate:	n/a
18	chr1:71904426-71904476	PANC-1	pancreas:	n/a
19	chr1:71830814-71830864	Caco-2	colon:	n/a
20	chr1:71830814-71830864	BE2_C	brain:	n/a
21	chr1:71904426-71904476	NHDF-neo	bronchial:	n/a
22	chr1:71904426-71904476	HUVEC	blood vessel:	n/a
23	chr1:71904426-71904476	K562	blood:	n/a
24	chr1:71929976-71930026	LNCaP	prostate:	n/a
25	chr1:71904426-71904476	HL-60	blood:	n/a
26	chr1:71929976-71930026	ovcar-3	ovarian:	n/a
27	chr1:71904426-71904476	GM12892	blood:	n/a
28	chr1:71904426-71904476	IMR90	lung:	fetal
29	chr1:71830814-71830864	AoSMC	blood vessel:	n/a
30	chr1:71904426-71904476	ovcar-3	ovarian:	n/a
31	chr1:71904426-71904476	Caco-2	colon:	n/a
32	chr1:71929976-71930026	HAEpiC	amniotic membrane:	n/a
33	chr1:71830814-71830864	NHBE	bronchial:	n/a
34	chr1:71830814-71830864	H1-hESC	embryonic stem cell:	embryo
35	chr1:71830814-71830864	AG09309	skin:	n/a
36	chr1:71904426-71904476	ECC-1	luminal epithelium:	n/a
37	chr1:71830814-71830864	SKMC	muscle:	n/a
38	chr1:71830814-71830864	NT2-D1	testis:	n/a
39	chr1:71830814-71830864	HRPEpiC	eye:	n/a
40	chr1:71929976-71930026	SK-N-MC	brain:	n/a
41	chr1:71830814-71830864	HEEpiC	esophagus:	n/a
42	chr1:71904426-71904476	HPAEpiC	pulmonary alveolar:	n/a
43	chr1:71929976-71930026	K562	blood:	n/a
44	chr1:71904426-71904476	AG04449	skin:	fetal
45	chr1:71830814-71830864	AG10803	skin:	n/a
46	chr1:71904426-71904476	BE2_C	brain:	n/a
47	chr1:71904426-71904476	HNPCEpiC	eye:	n/a
48	chr1:71904426-71904476	HIPEpiC	eye:	n/a
49	chr1:71929976-71930026	NH-A	brain:	n/a
50	chr1:71929976-71930026	AG10803	skin:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:71914328..71914851-chr1:71927223..71927813,2	MCF-7	breast:
2	chr1:71914037..71914921-chr1:71926795..71927704,3	MCF-7	breast:
3	chr1:71926381..71928732-chr1:71944427..71946345,2	K562	blood:
4	chr1:71885933..71887641-chr1:71889181..71890999,2	K562	blood:
5	chr1:71914328..71914976-chr1:71927298..71927813,2	MCF-7	breast:
6	chr1:71545214..71547722-chr1:71720590..71722886,2	K562	blood:
7	chr1:71914328..71914851-chr1:71927223..71927813,2	MCF-7	breast:
8	chr1:71813943..71816406-chr1:71819082..71821648,2	K562	blood:
9	chr1:71924869..71926479-chr1:71926979..71928831,2	MCF-7	breast:
10	chr1:71926381..71928732-chr1:71944427..71946345,2	K562	blood:
11	chr1:71914328..71914976-chr1:71927298..71927813,2	MCF-7	breast:
12	chr1:71941950..71944127-chr1:71948756..71950368,2	K562	blood:
13	chr1:71885933..71887641-chr1:71889181..71890999,2	K562	blood:
14	chr1:71914037..71914921-chr1:71926795..71927704,3	MCF-7	breast:
15	chr1:71920535..71922572-chr1:71923828..71926094,2	MCF-7	breast:
16	chr1:71915989..71918426-chr1:72103464..72106010,2	K562	blood:
17	chr1:71942559..71944248-chr1:71944744..71947074,2	MCF-7	breast:
18	chr1:71941193..71943663-chr1:71947061..71948900,2	K562	blood:
19	chr1:71513260..71514174-chr1:71822945..71823752,2	K562	blood:
20	chr1:71941950..71944127-chr1:71948756..71950368,2	K562	blood:
21	chr1:71813943..71816406-chr1:71819082..71821648,2	K562	blood:
22	chr1:71924869..71926479-chr1:71926979..71928831,2	MCF-7	breast:
23	chr1:71914108..71914677-chr16:85554351..85554911,2	MCF-7	breast:
24	chr1:71941193..71943663-chr1:71947061..71948900,2	K562	blood:
25	chr1:71914181..71914987-chr1:71994857..71995392,2	MCF-7	breast:
26	chr1:71913901..71916757-chr1:71917212..71919277,2	K562	blood:
27	chr1:71942559..71944248-chr1:71944744..71947074,2	MCF-7	breast:
28	chr1:71920535..71922572-chr1:71923828..71926094,2	MCF-7	breast:
29	chr1:71913901..71916757-chr1:71917212..71919277,2	K562	blood:

(count:60 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTH-6	chr1:71929092-71929208	ENSG00000229956.5
2	lnc-CTH-6	chr1:71887053-71887155	ENSG00000229956.5
3	lnc-CTH-6	chr1:71873316-71873554	ENSG00000229956.5
4	lnc-CTH-6	chr1:71867406-71867562	ENSG00000229956.2
5	lnc-CTH-6	chr1:71702813-71703069	ENSG00000229956.5
6	lnc-CTH-6	chr1:71874621-71874694	ENSG00000229956.5
7	lnc-CTH-6	chr1:71952081-71952130	ENSG00000229956.5
8	lnc-CTH-6	chr1:71873304-71873341	ENSG00000229956.5
9	lnc-CTH-6	chr1:71702813-71702878	ENSG00000229956.5
10	lnc-CTH-6	chr1:71874621-71874694	ENSG00000229956.5
11	lnc-CTH-6	chr1:71888187-71888658	ENSG00000229956.5
12	lnc-CTH-6	chr1:71873316-71873554	ENSG00000229956.5
13	lnc-CTH-6	chr1:71702813-71702878	ENSG00000229956.5
14	lnc-CTH-6	chr1:71888187-71888658	ENSG00000229956.5
15	lnc-CTH-6	chr1:71873304-71873367	ENSG00000229956.5
16	lnc-CTH-6	chr1:71929014-71929184	ENSG00000229956.2
17	lnc-CTH-6	chr1:71873323-71873554	ENSG00000229956.5
18	lnc-CTH-6	chr1:71873304-71873407	ENSG00000227126.1
19	lnc-CTH-6	chr1:71867406-71867562	ENSG00000229956.5
20	lnc-CTH-6	chr1:71929014-71929063	ENSG00000229956.5
21	lnc-CTH-6	chr1:71929014-71929208	ENSG00000229956.5
22	lnc-CTH-6	chr1:71873327-71873498	ENSG00000229956.5
23	lnc-CTH-6	chr1:71873304-71873367	ENSG00000229956.5
24	lnc-CTH-6	chr1:71950469-71950519	ENSG00000229956.5
25	lnc-CTH-6	chr1:71702813-71703799	NONHSAT003893
26	lnc-CTH-6	chr1:71868179-71868254	ENSG00000229956.5
27	lnc-CTH-6	chr1:71867406-71867562	ENSG00000229956.5
28	lnc-CTH-6	chr1:71867782-71868254	ENSG00000229956.5
29	lnc-CTH-6	chr1:71938265-71938324	ENSG00000229956.5
30	lnc-CTH-6	chr1:71873327-71873498	ENSG00000229956.5
31	lnc-CTH-6	chr1:71702813-71703406	ENSG00000229956
32	lnc-NEGR1-2	chr1:71832737-71832986	NONHSAT003896
33	lnc-CTH-6	chr1:71867530-71867562	ENSG00000227126.1
34	lnc-CTH-6	chr1:71867406-71867562	ENSG00000229956.5
35	lnc-CTH-6	chr1:71770042-71770098	ENSG00000229956.5
36	lnc-CTH-6	chr1:71833738-71833771	ENSG00000229956.5
37	lnc-CTH-6	chr1:71868179-71868254	ENSG00000227126.1
38	lnc-CTH-6	chr1:71702813-71702878	ENSG00000229956
39	lnc-CTH-6	chr1:71952081-71952751	ENSG00000229956.5
40	lnc-CTH-6	chr1:71833738-71833771	ENSG00000229956.2
41	lnc-CTH-6	chr1:71950469-71950519	ENSG00000229956.5
42	lnc-CTH-6	chr1:71927244-71927500	ENSG00000229956.5
43	lnc-CTH-6	chr1:71887053-71887155	ENSG00000229956.5
44	lnc-CTH-6	chr1:71927244-71927500	ENSG00000229956.5
45	lnc-CTH-6	chr1:71874621-71874694	ENSG00000229956.5
46	lnc-CTH-6	chr1:71733588-71733913	ENSG00000229956
47	lnc-CTH-6	chr1:71830721-71830882	ENSG00000229956.5
48	lnc-CTH-6	chr1:71867405-71867562	ENSG00000229956.5
49	lnc-CTH-6	chr1:71874621-71874694	ENSG00000229956.5
50	lnc-CTH-6	chr1:71874622-71874694	ENSG00000229956.5

No data

Variant related genes	Relation type
ENSG00000226324	TF binding region
NEGR1	TF binding region
ENSG00000237726	TF binding region
ZRANB2-AS2	TF binding region
ENSG00000226324	CpG island
NEGR1	CpG island
ENSG00000237726	CpG island
ZRANB2-AS2	CpG island
ENSG00000229956	chromatin interactions
ENSG00000132485	chromatin interactions
ENSG00000050628	chromatin interactions
SAR1A	miRNA target sites
CDK19	miRNA target sites
PPP1R9A	miRNA target sites
EAF1	miRNA target sites

Extended variants
information (count: 4317 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:4317 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549202434	chr1:71701931-71701932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116702418	chr1:71701986-71701987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531553856	chr1:71701991-71701992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551677601	chr1:71702011-71702012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571572326	chr1:71702028-71702029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182672560	chr1:71702046-71702047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547997037	chr1:71702114-71702115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186461004	chr1:71702133-71702134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76901739	chr1:71702171-71702172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576129998	chr1:71702190-71702191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191243995	chr1:71702258-71702259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558572038	chr1:71702274-71702275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs58291558	chr1:71702318-71702319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183478593	chr1:71702322-71702323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577324454	chr1:71702348-71702349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540966754	chr1:71702373-71702374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561180470	chr1:71702388-71702389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373772506	chr1:71702416-71702417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543112313	chr1:71702500-71702501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370623592	chr1:71702502-71702503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201736788	chr1:71702507-71702508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115213730	chr1:71702511-71702512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553232972	chr1:71702583-71702584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567856847	chr1:71702812-71702813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199791881	chr1:71702825-71702826	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs17091015	chr1:71702829-71702830	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs569802764	chr1:71702860-71702861	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs41289146	chr1:71702864-71702865	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs146741125	chr1:71702902-71702903	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs572063510	chr1:71703004-71703005	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs534930379	chr1:71703022-71703023	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs563176463	chr1:71703035-71703036	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs555305553	chr1:71703043-71703044	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs368366013	chr1:71703094-71703095	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs188631011	chr1:71703103-71703104	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs543215119	chr1:71703124-71703125	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs574973753	chr1:71703135-71703136	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs545516906	chr1:71703162-71703163	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs563125460	chr1:71703180-71703181	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs140530908	chr1:71703195-71703196	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs374259211	chr1:71703215-71703216	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs35835266	chr1:71703218-71703219	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs545095453	chr1:71703268-71703269	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs372026681	chr1:71703290-71703291	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs564978860	chr1:71703317-71703318	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs527645591	chr1:71703350-71703351	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs548071571	chr1:71703387-71703388	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs561390517	chr1:71703410-71703411	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs12119958	chr1:71703438-71703439	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs541292513	chr1:71703443-71703444	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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	21987784	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71699800-71702200	Weak transcription	Ovary	ovary
2	chr1:71701600-71702600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:71702800-71703000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:71705200-71706800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:71706200-71706600	Enhancers	NHDF-Ad	bronchial
6	chr1:71706200-71707000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:71707000-71708000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:71707600-71708600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:71708200-71708400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:71717800-71719200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:71718400-71719000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:71723200-71724600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:71725800-71726000	Enhancers	Fetal Brain Female	brain
14	chr1:71727200-71733000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:71728400-71729000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:71728400-71729000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:71729200-71729600	Enhancers	Fetal Brain Male	brain
18	chr1:71729800-71733600	Weak transcription	Fetal Brain Male	brain
19	chr1:71732600-71733800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:71733000-71734400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:71733000-71736400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:71733400-71736400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:71733600-71733800	Enhancers	Fetal Brain Male	brain
24	chr1:71733600-71736600	Enhancers	NHDF-Ad	bronchial
25	chr1:71733800-71734400	Weak transcription	Fetal Brain Male	brain
26	chr1:71734400-71736000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr1:71734600-71734800	Enhancers	Fetal Brain Male	brain
28	chr1:71734800-71735600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr1:71735800-71736200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:71736200-71736800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:71736400-71737800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:71736400-71739200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:71736600-71738800	Weak transcription	NHDF-Ad	bronchial
34	chr1:71737000-71737800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr1:71737800-71738000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr1:71737800-71739400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:71738800-71739600	Enhancers	NHDF-Ad	bronchial
38	chr1:71739200-71740400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:71740200-71740800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:71742200-71742400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:71742400-71751000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:71751000-71751200	ZNF genes & repeats	Pancreas	Pancrea
43	chr1:71751000-71751400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:71751000-71751400	Enhancers	HMEC	breast
45	chr1:71751200-71754000	Weak transcription	Pancreas	Pancrea
46	chr1:71759600-71762400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:71759600-71762800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:71760000-71760200	Enhancers	HMEC	breast
49	chr1:71760200-71760400	Enhancers	NHDF-Ad	bronchial
50	chr1:71760200-71761000	Weak transcription	HMEC	breast

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