Variant report

Variant	nsv546474
Chromosome Location	chr1:71793221-72040354
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:819)
CpG islands
(count:184)
Chromatin interactive
region (count:33)
LncRNA
region (count:55)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:819 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:71839584-71839653	K562	blood:	n/a	n/a
2	BACH1	chr1:71950573-71950579	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr1:72037796-72037968	GM12878	blood:	n/a	n/a
4	BCL11A	chr1:71927983-71928296	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL11A	chr1:71928031-71928271	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr1:71956157-71956480	GM12878	blood:	n/a	n/a
7	BCL3	chr1:71956137-71956395	GM12878	blood:	n/a	n/a
8	BCL3	chr1:71953062-71953428	GM12878	blood:	n/a	n/a
9	BCL3	chr1:71953142-71953384	GM12878	blood:	n/a	n/a
10	BHLHE40	chr1:72037702-72038280	GM12878	blood:	n/a	n/a
11	BRCA1	chr1:71823557-71823623	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr1:71927446-71927664	H1-hESC	embryonic stem cell:	n/a	n/a
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	chr1:71964324-71964524	H1-hESC	embryonic stem cell:	n/a	chr1:71964419-71964432 chr1:71964419-71964430 chr1:71964419-71964432 chr1:71964419-71964432 chr1:71964420-71964431
15	CEBPB	chr1:71857297-71857513	A549	lung:	n/a	chr1:71857386-71857397
16	CEBPB	chr1:71961511-71961727	IMR90	lung:	n/a	n/a
17	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
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	chr1:71914214-71914552	MCF-7	breast:	n/a	chr1:71914318-71914331 chr1:71914318-71914331 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914320-71914329 chr1:71914319-71914330
20	CEBPB	chr1:71857247-71857472	HepG2	liver:	n/a	chr1:71857386-71857397
21	CEBPB	chr1:72029778-72029966	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr1:71959918-71960236	IMR90	lung:	n/a	n/a
23	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
24	CEBPB	chr1:71888601-71888799	HepG2	liver:	n/a	chr1:71888661-71888674 chr1:71888663-71888672 chr1:71888661-71888672
25	CEBPB	chr1:71930968-71931163	A549	lung:	n/a	chr1:71931145-71931162 chr1:71931065-71931076
26	CEBPB	chr1:71964273-71964584	HepG2	liver:	n/a	chr1:71964419-71964432 chr1:71964419-71964430 chr1:71964419-71964432 chr1:71964419-71964432 chr1:71964420-71964431
27	CEBPB	chr1:71930934-71931218	HepG2	liver:	n/a	chr1:71931145-71931162 chr1:71931065-71931076
28	CEBPB	chr1:71859079-71859300	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr1:71923017-71923331	IMR90	lung:	n/a	n/a
30	CEBPB	chr1:71857351-71857492	K562	blood:	n/a	chr1:71857386-71857397
31	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
32	CEBPB	chr1:71857313-71857530	H1-hESC	embryonic stem cell:	n/a	chr1:71857386-71857397
33	CEBPB	chr1:71959895-71960217	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr1:72008898-72009414	HepG2	liver:	n/a	chr1:72009284-72009297 chr1:72009284-72009295 chr1:72009286-72009295 chr1:72009286-72009297 chr1:72009286-72009295 chr1:72009286-72009297 chr1:72009284-72009297 chr1:72009286-72009295 chr1:72009286-72009295
35	CEBPB	chr1:72009154-72009417	IMR90	lung:	n/a	chr1:72009284-72009297 chr1:72009284-72009295 chr1:72009286-72009295 chr1:72009286-72009297 chr1:72009286-72009295 chr1:72009286-72009297 chr1:72009284-72009297 chr1:72009286-72009295 chr1:72009286-72009295
36	CEBPB	chr1:71928888-71929212	IMR90	lung:	n/a	n/a
37	CEBPB	chr1:71964266-71964603	IMR90	lung:	n/a	chr1:71964419-71964432 chr1:71964419-71964430 chr1:71964419-71964432 chr1:71964419-71964432 chr1:71964420-71964431
38	CEBPB	chr1:71956190-71956394	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr1:71902907-71903169	IMR90	lung:	n/a	chr1:71903029-71903040
40	CEBPB	chr1:72008364-72008562	HepG2	liver:	n/a	n/a
41	CEBPB	chr1:71902874-71903109	HepG2	liver:	n/a	chr1:71903029-71903040
42	CEBPB	chr1:71956151-71956460	IMR90	lung:	n/a	n/a
43	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
44	CEBPB	chr1:71831103-71831451	IMR90	lung:	n/a	n/a
45	CEBPB	chr1:72030974-72031354	IMR90	lung:	n/a	chr1:72031169-72031180
46	CEBPB	chr1:72027530-72027755	IMR90	lung:	n/a	n/a
47	CEBPB	chr1:72037793-72038100	IMR90	lung:	n/a	n/a
48	CEBPB	chr1:71956153-71956490	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr1:71817163-71817558	IMR90	lung:	n/a	n/a
50	CEBPB	chr1:71857220-71857566	IMR90	lung:	n/a	chr1:71857386-71857397

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:71830814-71830864	PFSK-1	brain:	n/a
2	chr1:71830814-71830864	PFSK-1	brain:	n/a
3	chr1:71904426-71904476	NH-A	brain:	n/a
4	chr1:71904426-71904476	SK-N-SH_RA	brain:	n/a
5	chr1:71830814-71830864	AG09319	gingival:	n/a
6	chr1:71904426-71904476	HIPEpiC	eye:	n/a
7	chr1:71929976-71930026	LNCaP	prostate:	n/a
8	chr1:71830814-71830864	NHBE	bronchial:	n/a
9	chr1:71830814-71830864	Caco-2	colon:	n/a
10	chr1:71830814-71830864	GM19239	blood:	n/a
11	chr1:71830814-71830864	HIPEpiC	eye:	n/a
12	chr1:71904426-71904476	HRPEpiC	eye:	n/a
13	chr1:71929976-71930026	HRE	kidney:	n/a
14	chr1:71929976-71930026	ProgFib	skin:	n/a
15	chr1:71830814-71830864	PANC-1	pancreas:	n/a
16	chr1:71904426-71904476	A549	lung:	n/a
17	chr1:71830814-71830864	CMK	blood:	n/a
18	chr1:71904426-71904476	AG04449	skin:	fetal
19	chr1:71904426-71904476	GM12878	blood:	n/a
20	chr1:71929976-71930026	HUVEC	blood vessel:	n/a
21	chr1:71929976-71930026	AG09309	skin:	n/a
22	chr1:71904426-71904476	HCF	heart:	n/a
23	chr1:71830814-71830864	HEEpiC	esophagus:	n/a
24	chr1:71904426-71904476	HUVEC	blood vessel:	n/a
25	chr1:71929976-71930026	MCF-7	breast:	n/a
26	chr1:71830814-71830864	SK-N-SH	brain:	n/a
27	chr1:71929976-71930026	Hepatocyte	liver:	n/a
28	chr1:71929976-71930026	AoSMC	blood vessel:	n/a
29	chr1:71830814-71830864	GM12891	blood:	n/a
30	chr1:71929976-71930026	GM19239	blood:	n/a
31	chr1:71929976-71930026	HCF	heart:	n/a
32	chr1:71830814-71830864	SK-N-MC	brain:	n/a
33	chr1:71830814-71830864	HEK293	kidney:	embryo
34	chr1:71929976-71930026	AG09319	gingival:	n/a
35	chr1:71929976-71930026	K562	blood:	n/a
36	chr1:71830814-71830864	AG04449	skin:	fetal
37	chr1:71904426-71904476	HEEpiC	esophagus:	n/a
38	chr1:71830814-71830864	HepG2	liver:	n/a
39	chr1:71830814-71830864	SAEC	small airway:	n/a
40	chr1:71929976-71930026	CMK	blood:	n/a
41	chr1:71929976-71930026	BE2_C	brain:	n/a
42	chr1:71830814-71830864	Jurkat	blood:	n/a
43	chr1:71904426-71904476	T-47D	breast:	n/a
44	chr1:71929976-71930026	PANC-1	pancreas:	n/a
45	chr1:71904426-71904476	HMEC	breast:	n/a
46	chr1:71929976-71930026	GM12891	blood:	n/a
47	chr1:71929976-71930026	HRCEpiC	kidney:	n/a
48	chr1:71929976-71930026	HNPCEpiC	eye:	n/a
49	chr1:71904426-71904476	BE2_C	brain:	n/a
50	chr1:71904426-71904476	K562	blood:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:71926381..71928732-chr1:71944427..71946345,2	K562	blood:
2	chr1:71920535..71922572-chr1:71923828..71926094,2	MCF-7	breast:
3	chr1:71915989..71918426-chr1:72103464..72106010,2	K562	blood:
4	chr1:71914181..71914987-chr1:71994857..71995392,2	MCF-7	breast:
5	chr1:71942559..71944248-chr1:71944744..71947074,2	MCF-7	breast:
6	chr1:71813943..71816406-chr1:71819082..71821648,2	K562	blood:
7	chr1:71914328..71914851-chr1:71927223..71927813,2	MCF-7	breast:
8	chr1:71914037..71914921-chr1:71926795..71927704,3	MCF-7	breast:
9	chr1:71885933..71887641-chr1:71889181..71890999,2	K562	blood:
10	chr1:71914328..71914976-chr1:71927298..71927813,2	MCF-7	breast:
11	chr1:71914328..71914851-chr1:71927223..71927813,2	MCF-7	breast:
12	chr1:71941950..71944127-chr1:71948756..71950368,2	K562	blood:
13	chr1:71999742..72002338-chr1:72004237..72006928,2	K562	blood:
14	chr1:71914037..71914921-chr1:71926795..71927704,3	MCF-7	breast:
15	chr1:71662166..71663092-chr1:71987067..71987944,4	MCF-7	breast:
16	chr1:71999742..72002338-chr1:72004237..72006928,2	K562	blood:
17	chr1:71924869..71926479-chr1:71926979..71928831,2	MCF-7	breast:
18	chr1:71926381..71928732-chr1:71944427..71946345,2	K562	blood:
19	chr1:71942559..71944248-chr1:71944744..71947074,2	MCF-7	breast:
20	chr1:71941950..71944127-chr1:71948756..71950368,2	K562	blood:
21	chr1:71914181..71914987-chr1:71994857..71995392,2	MCF-7	breast:
22	chr1:71924869..71926479-chr1:71926979..71928831,2	MCF-7	breast:
23	chr1:71913901..71916757-chr1:71917212..71919277,2	K562	blood:
24	chr1:71941193..71943663-chr1:71947061..71948900,2	K562	blood:
25	chr1:71913901..71916757-chr1:71917212..71919277,2	K562	blood:
26	chr1:71813943..71816406-chr1:71819082..71821648,2	K562	blood:
27	chr1:71662232..71663221-chr1:71987100..71987819,3	MCF-7	breast:
28	chr1:71920535..71922572-chr1:71923828..71926094,2	MCF-7	breast:
29	chr1:71914108..71914677-chr16:85554351..85554911,2	MCF-7	breast:
30	chr1:71914328..71914976-chr1:71927298..71927813,2	MCF-7	breast:
31	chr1:71941193..71943663-chr1:71947061..71948900,2	K562	blood:
32	chr1:71885933..71887641-chr1:71889181..71890999,2	K562	blood:
33	chr1:71513260..71514174-chr1:71822945..71823752,2	K562	blood:

(count:55 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTH-6	chr1:71873304-71873367	ENSG00000229956.5
2	lnc-CTH-6	chr1:71887053-71887155	ENSG00000229956.5
3	lnc-CTH-6	chr1:71929014-71929208	ENSG00000229956.5
4	lnc-CTH-6	chr1:71867406-71867562	ENSG00000229956.5
5	lnc-CTH-6	chr1:71927244-71927500	ENSG00000229956.5
6	lnc-CTH-6	chr1:71874621-71874694	ENSG00000229956.5
7	lnc-CTH-6	chr1:71873304-71873341	ENSG00000229956.5
8	lnc-CTH-6	chr1:71867530-71867562	ENSG00000227126.1
9	lnc-CTH-6	chr1:71874621-71874694	ENSG00000229956.5
10	lnc-CTH-6	chr1:71953674-71953831	ENSG00000229956.5
11	lnc-CTH-7	chr1:72039117-72039241	ENSG00000231985.1
12	lnc-CTH-6	chr1:71953674-71953831	ENSG00000229956.5
13	lnc-CTH-6	chr1:71874622-71874694	ENSG00000229956.5
14	lnc-CTH-6	chr1:71874621-71874694	ENSG00000229956.5
15	lnc-CTH-6	chr1:71929014-71929184	ENSG00000229956.2
16	lnc-CTH-6	chr1:71927244-71927500	ENSG00000229956.5
17	lnc-CTH-6	chr1:71952081-71952217	ENSG00000229956.5
18	lnc-CTH-6	chr1:71952081-71952751	ENSG00000229956.5
19	lnc-CTH-6	chr1:71887053-71887155	ENSG00000229956.5
20	lnc-CTH-6	chr1:71833738-71833771	ENSG00000229956.2
21	lnc-CTH-6	chr1:71873304-71873407	ENSG00000227126.1
22	lnc-CTH-6	chr1:71867406-71867562	ENSG00000229956.5
23	lnc-CTH-6	chr1:71952081-71952196	ENSG00000229956.5
24	lnc-CTH-6	chr1:71867406-71867562	ENSG00000229956.2
25	lnc-CTH-6	chr1:71873323-71873554	ENSG00000229956.5
26	lnc-CTH-6	chr1:71955391-71955652	ENSG00000229956.5
27	lnc-CTH-6	chr1:71868179-71868254	ENSG00000229956.5
28	lnc-CTH-6	chr1:71888187-71888658	ENSG00000229956.5
29	lnc-CTH-6	chr1:71873327-71873498	ENSG00000229956.5
30	lnc-CTH-6	chr1:71929092-71929208	ENSG00000229956.5
31	lnc-NEGR1-2	chr1:71832737-71832986	NONHSAT003896
32	lnc-CTH-6	chr1:71950469-71950519	ENSG00000229956.5
33	lnc-CTH-6	chr1:71873327-71873498	ENSG00000229956.5
34	lnc-CTH-6	chr1:71833738-71833771	ENSG00000229956.5
35	lnc-CTH-6	chr1:71955391-71955586	ENSG00000229956.5
36	lnc-CTH-6	chr1:71950469-71950519	ENSG00000229956.5
37	lnc-CTH-6	chr1:71867782-71868254	ENSG00000229956.5
38	lnc-CTH-6	chr1:71873316-71873554	ENSG00000229956.5
39	lnc-CTH-6	chr1:71867405-71867562	ENSG00000229956.5
40	lnc-CTH-6	chr1:71873304-71873362	ENSG00000229956.5
41	lnc-CTH-6	chr1:71950469-71950519	ENSG00000229956.5
42	lnc-CTH-6	chr1:71938265-71938324	ENSG00000229956.5
43	lnc-CTH-6	chr1:71938265-71938324	ENSG00000229956.5
44	lnc-CTH-6	chr1:71929014-71929208	ENSG00000229956.5
45	lnc-CTH-6	chr1:71952081-71952130	ENSG00000229956.5
46	lnc-CTH-6	chr1:71874621-71874694	ENSG00000229956.5
47	lnc-CTH-6	chr1:71873304-71873367	ENSG00000229956.5
48	lnc-CTH-6	chr1:71830721-71830882	ENSG00000229956.5
49	lnc-CTH-6	chr1:71929014-71929063	ENSG00000229956.5
50	lnc-CTH-6	chr1:71888187-71888658	ENSG00000229956.5

No data

Variant related genes	Relation type
ENSG00000226324	TF binding region
NEGR1	TF binding region
ZRANB2-AS2	TF binding region
ENSG00000231985	TF binding region
ENSG00000226324	CpG island
NEGR1	CpG island
ZRANB2-AS2	CpG island
ENSG00000231985	CpG island
ENSG00000050628	chromatin interactions

Extended variants
information (count: 3750 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:3750 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549540922	chr1:71796400-71796401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539353575	chr1:71796446-71796447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553188325	chr1:71796529-71796530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78468714	chr1:71796536-71796537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535610077	chr1:71796580-71796581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs151265158	chr1:71796657-71796658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569517247	chr1:71796658-71796659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140569412	chr1:71796681-71796682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539759245	chr1:71796685-71796686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543501534	chr1:71796700-71796701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7511920	chr1:71796733-71796734	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs577122829	chr1:71796771-71796772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546191300	chr1:71796797-71796798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559963408	chr1:71796845-71796846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528702728	chr1:71796885-71796886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12140289	chr1:71796914-71796915	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs7535454	chr1:71796950-71796951	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs183943375	chr1:71796985-71796986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77860757	chr1:71796998-71796999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375539135	chr1:71797019-71797020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138352373	chr1:71797040-71797041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570359737	chr1:71797058-71797059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532905016	chr1:71797071-71797072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546597840	chr1:71797195-71797196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568152135	chr1:71816400-71816401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553545606	chr1:71816407-71816408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114226798	chr1:71816421-71816422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12742638	chr1:71816467-71816468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576098049	chr1:71816516-71816517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538661036	chr1:71816564-71816565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558480944	chr1:71816599-71816600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572700557	chr1:71816622-71816623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541352540	chr1:71816697-71816698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147475345	chr1:71816700-71816701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574915063	chr1:71816730-71816731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34922970	chr1:71816737-71816738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544004783	chr1:71816812-71816813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563390786	chr1:71816841-71816842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369131374	chr1:71816878-71816879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532207510	chr1:71816893-71816894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567696467	chr1:71816937-71816938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552207450	chr1:71816946-71816947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574808896	chr1:71816947-71816948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536251692	chr1:71817038-71817039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548170491	chr1:71817046-71817047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140097027	chr1:71817062-71817063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs17091134	chr1:71817067-71817068	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs531314212	chr1:71817078-71817079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550325733	chr1:71817104-71817105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191976060	chr1:71817120-71817121	Enhancers	n/a	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	22037309	CNVD
Epilepsy	20502679	CNVD

Chromatin state (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71796400-71797200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:71816400-71817800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:71816400-71817800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:71816600-71817800	Enhancers	NHDF-Ad	bronchial
5	chr1:71816800-71818000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr1:71817000-71817400	Enhancers	Fetal Brain Male	brain
7	chr1:71817000-71817600	Enhancers	Fetal Brain Female	brain
8	chr1:71817000-71817800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:71817000-71817800	Enhancers	NH-A	brain
10	chr1:71817000-71818200	Enhancers	HMEC	breast
11	chr1:71827200-71828400	Enhancers	Fetal Lung	lung
12	chr1:71827600-71828000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:71827600-71828600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:71827800-71828000	Enhancers	Ovary	ovary
15	chr1:71828200-71830200	Weak transcription	Ovary	ovary
16	chr1:71828400-71830000	Weak transcription	Fetal Lung	lung
17	chr1:71828600-71829400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:71829400-71830600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:71829600-71830800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr1:71829600-71831200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:71830000-71830200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:71830000-71831200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:71830000-71831200	Enhancers	NHDF-Ad	bronchial
24	chr1:71830000-71831400	Enhancers	Fetal Lung	lung
25	chr1:71830200-71831000	Enhancers	Ovary	ovary
26	chr1:71830200-71831400	Enhancers	NHLF	lung
27	chr1:71830600-71831200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:71830800-71831200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr1:71831000-71831400	Weak transcription	Ovary	ovary
30	chr1:71831000-71831400	Enhancers	NH-A	brain
31	chr1:71831200-71831400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:71831200-71831400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:71831200-71831400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:71831200-71831600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:71831200-71831800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:71831200-71831800	Active TSS	Colon Smooth Muscle	Colon
37	chr1:71831200-71831800	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr1:71831200-71831800	Active TSS	Stomach Smooth Muscle	stomach
39	chr1:71831200-71832000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr1:71831200-71832000	Active TSS	NHDF-Ad	bronchial
41	chr1:71831200-71832000	Active TSS	Osteobl	bone
42	chr1:71831400-71831600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:71831400-71831600	Active TSS	Brain Cingulate Gyrus	brain
44	chr1:71831400-71831600	Active TSS	HUVEC	blood vessel
45	chr1:71831400-71831800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:71831400-71831800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:71831400-71831800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:71831400-71831800	Active TSS	Adipose Nuclei	Adipose
49	chr1:71831400-71831800	Active TSS	Brain Hippocampus Middle	brain
50	chr1:71831400-71831800	Active TSS	Brain Inferior Temporal Lobe	brain

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