Variant report

Variant	nsv535200
Chromosome Location	chr1:169968488-170453021
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2748)
CpG islands
(count:1894)
Chromatin interactive
region (count:63)
LncRNA
region (count:35)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:2748 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:170038589-170038789	K562	blood:	n/a	n/a
2	ARID3A	chr1:170043663-170043679	K562	blood:	n/a	n/a
3	ARID3A	chr1:170036347-170037064	K562	blood:	n/a	n/a
4	ARID3A	chr1:169996970-169997178	K562	blood:	n/a	n/a
5	ARID3A	chr1:170043720-170044272	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:170043890-170044163	K562	blood:	n/a	n/a
7	ATF1	chr1:170044452-170044712	K562	blood:	n/a	n/a
8	ATF1	chr1:170137401-170137867	K562	blood:	n/a	n/a
9	ATF1	chr1:170036345-170037041	K562	blood:	n/a	n/a
10	ATF1	chr1:170115349-170115543	K562	blood:	n/a	n/a
11	ATF1	chr1:170228180-170228364	K562	blood:	n/a	n/a
12	ATF1	chr1:170311757-170311764	K562	blood:	n/a	n/a
13	ATF1	chr1:170135671-170135892	K562	blood:	n/a	n/a
14	ATF1	chr1:170144260-170144588	K562	blood:	n/a	n/a
15	ATF1	chr1:170143550-170143634	K562	blood:	n/a	n/a
16	ATF1	chr1:170011022-170011364	K562	blood:	n/a	n/a
17	ATF1	chr1:170043550-170044175	K562	blood:	n/a	n/a
18	ATF2	chr1:170043337-170044137	GM12878	blood:	n/a	n/a
19	ATF2	chr1:170217120-170217617	GM12878	blood:	n/a	n/a
20	ATF2	chr1:170217069-170217532	GM12878	blood:	n/a	n/a
21	ATF2	chr1:170114952-170115522	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr1:170115007-170115530	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF3	chr1:170043703-170044028	K562	blood:	n/a	n/a
24	ATF3	chr1:170043683-170044136	A549	lung:	n/a	n/a
25	ATF3	chr1:170236455-170236955	HCT-116	colon:	n/a	n/a
26	BACH1	chr1:170011314-170011505	K562	blood:	n/a	n/a
27	BACH1	chr1:170150234-170150265	K562	blood:	n/a	n/a
28	BACH1	chr1:170254305-170254502	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr1:170039704-170039852	K562	blood:	n/a	n/a
30	BACH1	chr1:170111017-170111125	K562	blood:	n/a	n/a
31	BACH1	chr1:170412497-170412606	K562	blood:	n/a	n/a
32	BATF	chr1:170323768-170324161	GM12878	blood:	n/a	n/a
33	BATF	chr1:170095855-170096247	GM12878	blood:	n/a	n/a
34	BATF	chr1:170231849-170232032	GM12878	blood:	n/a	n/a
35	BATF	chr1:170209444-170209986	GM12878	blood:	n/a	n/a
36	BATF	chr1:170209548-170209963	GM12878	blood:	n/a	n/a
37	BATF	chr1:170095865-170096243	GM12878	blood:	n/a	n/a
38	BATF	chr1:170243308-170243597	GM12878	blood:	n/a	n/a
39	BATF	chr1:170183837-170184057	GM12878	blood:	n/a	n/a
40	BATF	chr1:170295467-170295744	GM12878	blood:	n/a	n/a
41	BATF	chr1:170269030-170269237	GM12878	blood:	n/a	n/a
42	BATF	chr1:170217239-170217563	GM12878	blood:	n/a	n/a
43	BATF	chr1:170230906-170231122	GM12878	blood:	n/a	n/a
44	BATF	chr1:170222358-170222630	GM12878	blood:	n/a	n/a
45	BATF	chr1:170244332-170244625	GM12878	blood:	n/a	n/a
46	BATF	chr1:170208614-170208891	GM12878	blood:	n/a	n/a
47	BCL11A	chr1:170209534-170209847	GM12878	blood:	n/a	chr1:170209672-170209681
48	BCL11A	chr1:170040610-170040877	GM12878	blood:	n/a	n/a
49	BCL11A	chr1:170243197-170243594	GM12878	blood:	n/a	n/a
50	BCL11A	chr1:170183266-170183516	GM12878	blood:	n/a	n/a

(count:1894 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:170115258-170115308	K562	blood:	n/a
2	chr1:170114243-170114293	HPAEpiC	pulmonary alveolar:	n/a
3	chr1:170383965-170384015	AG09319	gingival:	n/a
4	chr1:170115258-170115308	K562	blood:	n/a
5	chr1:170114243-170114293	HPAEpiC	pulmonary alveolar:	n/a
6	chr1:170383965-170384015	AG09319	gingival:	n/a
7	chr1:170043489-170043539	ECC-1	luminal epithelium:	n/a
8	chr1:170136883-170136933	NHBE	bronchial:	n/a
9	chr1:170253944-170253994	LNCaP	prostate:	n/a
10	chr1:170278698-170278748	HAEpiC	amniotic membrane:	n/a
11	chr1:170113838-170113888	Caco-2	colon:	n/a
12	chr1:170044077-170044127	SK-N-SH	brain:	n/a
13	chr1:170254369-170254419	SKMC	muscle:	n/a
14	chr1:170044077-170044127	HAEpiC	amniotic membrane:	n/a
15	chr1:170040953-170041003	HRCEpiC	kidney:	n/a
16	chr1:170248794-170248844	HCM	heart:	n/a
17	chr1:170253617-170253667	HUVEC	blood vessel:	n/a
18	chr1:170064039-170064089	AG04449	skin:	fetal
19	chr1:170040953-170041003	BJ	skin:	n/a
20	chr1:170115351-170115401	Hepatocyte	liver:	n/a
21	chr1:170115258-170115308	PANC-1	pancreas:	n/a
22	chr1:170253944-170253994	Jurkat	blood:	n/a
23	chr1:170278698-170278748	HRE	kidney:	n/a
24	chr1:170043489-170043539	HIPEpiC	eye:	n/a
25	chr1:170064039-170064089	HCT-116	colon:	n/a
26	chr1:170115258-170115308	HCF	heart:	n/a
27	chr1:170254369-170254419	BJ	skin:	n/a
28	chr1:170114481-170114531	HRPEpiC	eye:	n/a
29	chr1:170043489-170043539	PANC-1	pancreas:	n/a
30	chr1:170253617-170253667	HRE	kidney:	n/a
31	chr1:170115351-170115401	NHDF-neo	bronchial:	n/a
32	chr1:170043670-170043720	CMK	blood:	n/a
33	chr1:170064039-170064089	NT2-D1	testis:	n/a
34	chr1:170113838-170113888	NHDF-neo	bronchial:	n/a
35	chr1:170376975-170377025	SK-N-MC	brain:	n/a
36	chr1:170044077-170044127	CMK	blood:	n/a
37	chr1:170253944-170253994	NH-A	brain:	n/a
38	chr1:170044059-170044109	PANC-1	pancreas:	n/a
39	chr1:170044647-170044697	A549	lung:	n/a
40	chr1:170043670-170043720	HCF	heart:	n/a
41	chr1:170254369-170254419	HCF	heart:	n/a
42	chr1:170043670-170043720	PrEC	prostate:	n/a
43	chr1:170114481-170114531	NT2-D1	testis:	n/a
44	chr1:170253405-170253455	MCF10A-Er-Src	breast:	n/a
45	chr1:170043489-170043539	Jurkat	blood:	n/a
46	chr1:170043996-170044046	SK-N-SH_RA	brain:	n/a
47	chr1:170136883-170136933	HRCEpiC	kidney:	n/a
48	chr1:170376975-170377025	HRPEpiC	eye:	n/a
49	chr1:170245286-170245336	ProgFib	skin:	n/a
50	chr1:170383965-170384015	AG04450	lung:	fetal

(count:63 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:170273398..170275086-chr1:170277805..170279619,2	K562	blood:
2	chr1:170037046..170038634-chr1:170041259..170042880,2	K562	blood:
3	chr1:169978581..169980784-chr1:169986210..169988699,2	K562	blood:
4	chr1:169979498..169980234-chr1:170043063..170044397,4	MCF-7	breast:
5	chr1:169994409..169995032-chr14:93420162..93420674,2	MCF-7	breast:
6	chr1:170091699..170093769-chr1:170094721..170097349,2	MCF-7	breast:
7	chr1:169979448..169980255-chr1:170898780..170899472,2	K562	blood:
8	chr1:170063764..170066011-chr1:170067064..170069501,2	K562	blood:
9	chr1:170032663..170035514-chr1:170040847..170042460,2	MCF-7	breast:
10	chr1:170053359..170054893-chr1:170055223..170057479,2	K562	blood:
11	chr1:170057709..170058229-chr16:84130062..84130911,2	MCF-7	breast:
12	chr1:170129471..170132945-chr1:170134793..170138535,3	K562	blood:
13	chr1:170414699..170416737-chr1:170420251..170421783,2	MCF-7	breast:
14	chr1:169861326..169864449-chr1:170043806..170046469,4	K562	blood:
15	chr1:170063764..170066011-chr1:170067064..170069501,2	K562	blood:
16	chr1:170042562..170044134-chr1:170053938..170056849,2	K562	blood:
17	chr1:170111312..170113839-chr1:170118404..170121230,2	MCF-7	breast:
18	chr1:170001773..170004405-chr1:170006307..170009293,2	K562	blood:
19	chr1:169978581..169980784-chr1:169986210..169988699,2	K562	blood:
20	chr1:170041779..170045851-chr1:170055349..170057203,4	K562	blood:
21	chr1:170113498..170115329-chr1:170116891..170119846,2	K562	blood:
22	chr1:170094922..170097301-chr1:170106328..170108672,3	K562	blood:
23	chr1:170201692..170203907-chr1:170499711..170502417,2	K562	blood:
24	chr1:170094922..170097301-chr1:170106328..170108672,3	K562	blood:
25	chr1:170094347..170096497-chr1:170102860..170105112,2	MCF-7	breast:
26	chr1:169978632..169980569-chr1:170500860..170502895,2	MCF-7	breast:
27	chr1:170094347..170096497-chr1:170102860..170105112,2	MCF-7	breast:
28	chr1:169979349..169980369-chr1:170850840..170851844,4	MCF-7	breast:
29	chr1:170049121..170051472-chr3:123302819..123305003,2	MCF-7	breast:
30	chr1:170406740..170408344-chr1:170500261..170502437,2	MCF-7	breast:
31	chr1:169979813..169982502-chr1:169983250..169984893,2	K562	blood:
32	chr1:170096762..170100678-chr1:170100891..170103692,3	K562	blood:
33	chr1:169979813..169982502-chr1:169983250..169984893,2	K562	blood:
34	chr1:170091699..170093769-chr1:170094721..170097349,2	MCF-7	breast:
35	chr1:169979482..169980027-chr1:170734948..170735518,2	MCF-7	breast:
36	chr1:170053683..170055688-chr1:170064676..170066604,2	MCF-7	breast:
37	chr1:170032070..170034334-chr1:170034537..170036782,2	K562	blood:
38	chr1:170001773..170004405-chr1:170006307..170009293,2	K562	blood:
39	chr1:170043800..170045647-chr1:170047076..170050874,3	K562	blood:
40	chr1:170064234..170066011-chr1:170067576..170069501,2	K562	blood:
41	chr1:170189403..170192132-chr1:170193274..170194926,2	MCF-7	breast:
42	chr1:169979327..169979968-chr1:170898972..170899569,2	MCF-7	breast:
43	chr1:170414699..170416737-chr1:170420251..170421783,2	MCF-7	breast:
44	chr1:170438931..170441760-chr1:170443458..170446041,2	K562	blood:
45	chr1:170129471..170132945-chr1:170134793..170138535,3	K562	blood:
46	chr1:169904469..169905208-chr1:169979740..169980542,2	MCF-7	breast:
47	chr1:170321098..170321618-chr8:126444102..126444903,2	K562	blood:
48	chr1:170049488..170051380-chr1:170053284..170055276,2	K562	blood:
49	chr1:169978528..169981053-chr1:170500147..170503138,2	MCF-7	breast:
50	chr1:170037649..170040302-chr1:170043918..170046865,2	K562	blood:

(count:35 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIFAP3-2	chr1:170431350-170431560	ENSG00000231407.1
2	lnc-KIFAP3-1	chr1:170242674-170242964	XLOC_001087
3	lnc-SCYL3-2	chr1:169990599-169991390	NONHSAT007485
4	lnc-KIFAP3-2	chr1:170429594-170431560	NONHSAT007498
5	lnc-KIFAP3-1	chr1:170253280-170253349	XLOC_001087
6	lnc-METTL11B-1	chr1:170209371-170209463	ENSG00000233985
7	lnc-METTL11B-1	chr1:170182572-170182614	NONHSAT007492
8	lnc-METTL11B-1	chr1:170210206-170210428	ENSG00000233985
9	lnc-METTL11B-1	chr1:170196060-170196199	ENSG00000233985
10	lnc-METTL11B-1	chr1:170143544-170143847	ENSG00000233985
11	lnc-KIFAP3-1	chr1:170253280-170253349	XLOC_001087
12	lnc-METTL11B-1	chr1:170143657-170143847	NONHSAT007492
13	lnc-KIFAP3-2	chr1:170429594-170431560	ENSG00000231407.1
14	lnc-KIFAP3-1	chr1:170240908-170241122	XLOC_001087
15	lnc-KIFAP3-1	chr1:170240744-170241122	XLOC_001087
16	lnc-KIFAP3-1	chr1:170240546-170241122	NONHSAT007495
17	lnc-KIFAP3-2	chr1:170431350-170431563	NONHSAT007500
18	lnc-KIFAP3-4	chr1:170180151-170180598	NONHSAT007493
19	lnc-KIFAP3-1	chr1:170242674-170243648	NONHSAT007495
20	lnc-METTL11B-3	chr1:170196875-170196937	NONHSAT007494
21	lnc-KIFAP3-1	chr1:170247971-170248073	XLOC_001087
22	lnc-KIFAP3-1	chr1:170240733-170241122	XLOC_001087
23	lnc-KIFAP3-1	chr1:170247971-170248073	XLOC_001087
24	lnc-KIFAP3-1	chr1:170253280-170253349	NONHSAT007495
25	lnc-METTL11B-3	chr1:170206889-170207095	NONHSAT007494
26	lnc-KIFAP3-1	chr1:170247971-170248073	NONHSAT007495
27	lnc-KIFAP3-1	chr1:170242674-170243648	XLOC_001087
28	lnc-METTL11B-3	chr1:170208051-170208997	NONHSAT007494
29	lnc-KIFAP3-1	chr1:170247971-170248073	XLOC_001087
30	lnc-KIFAP3-1	chr1:170242674-170243648	XLOC_001087
31	lnc-KIFAP3-2	chr1:170430562-170430718	NONHSAT007500
32	lnc-KIFAP3-1	chr1:170240547-170241122	XLOC_001087
33	lnc-METTL11B-2	chr1:169993218-169993424	ENSG00000232959.1
34	lnc-METTL11B-2	chr1:169993691-169993824	ENSG00000232959.1
35	lnc-KIFAP3-2	chr1:170430458-170431560	ENSG00000231407.1

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3119	chr1:170120576-170120595	MIMAT0014981_1
hsa-miR-3119	chr1:170120527-170120546	MIMAT0014981

No data

Variant related genes	Relation type
ENSG00000263384	TF binding region
KIFAP3	TF binding region
METTL11B	TF binding region
ISCUP1	TF binding region
HAUS4P1	TF binding region
ENSG00000203260	TF binding region
MIR3119-1	TF binding region
ENSG00000232959	TF binding region
ENSG00000233985	TF binding region
SIGLEC30P	TF binding region
LINC01142	TF binding region
ENSG00000263384	CpG island
KIFAP3	CpG island
METTL11B	CpG island
ISCUP1	CpG island
HAUS4P1	CpG island
ENSG00000203260	CpG island
MIR3119-1	CpG island
ENSG00000232959	CpG island
ENSG00000233985	CpG island
SIGLEC30P	CpG island
LINC01142	CpG island
ENSG00000075945	chromatin interactions
ENSG00000203740	chromatin interactions
ENSG00000206527	chromatin interactions
ENSG00000263390	chromatin interactions
ENSG00000173334	chromatin interactions
ENSG00000120370	chromatin interactions
ENSG00000231407	chromatin interactions
ENSG00000000457	chromatin interactions
ENSG00000239523	chromatin interactions
CDK6	miRNA target sites

Extended variants
information (count: 12660 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:12660 , 50 per page) page: 1 2 3 4 5 6 7 ... 254

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187140696	chr1:169968518-169968519	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs567754071	chr1:169968525-169968526	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs148586938	chr1:169968550-169968551	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs560888807	chr1:169968636-169968637	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs531329943	chr1:169968710-169968711	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs36054309	chr1:169968711-169968712	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs142904554	chr1:169968725-169968726	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs192984213	chr1:169968735-169968736	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs531975656	chr1:169968763-169968764	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs146602437	chr1:169968781-169968782	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs566344930	chr1:169968793-169968794	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs536507682	chr1:169968814-169968815	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185221554	chr1:169968838-169968839	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77425288	chr1:169968868-169968869	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190502558	chr1:169968869-169968870	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559082999	chr1:169968897-169968898	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577359597	chr1:169968905-169968906	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541394805	chr1:169968971-169968972	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193228052	chr1:169968989-169968990	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77672751	chr1:169969026-169969027	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183675265	chr1:169969056-169969057	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141363928	chr1:169969099-169969100	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143691403	chr1:169969134-169969135	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531365665	chr1:169969175-169969176	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188002940	chr1:169969178-169969179	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369149704	chr1:169969325-169969326	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114970267	chr1:169969333-169969334	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146828002	chr1:169969394-169969395	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547381863	chr1:169969414-169969415	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559055022	chr1:169969418-169969419	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs511609	chr1:169969444-169969445	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs548557987	chr1:169969487-169969488	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181222071	chr1:169969494-169969495	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185623203	chr1:169969507-169969508	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140423077	chr1:169969542-169969543	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538001939	chr1:169969558-169969559	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs510681	chr1:169969574-169969575	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs79145207	chr1:169969610-169969611	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553357602	chr1:169969676-169969677	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574698306	chr1:169969701-169969702	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150403026	chr1:169969711-169969712	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556709235	chr1:169969725-169969726	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554435613	chr1:169969736-169969737	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189773152	chr1:169969744-169969745	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138071214	chr1:169969745-169969746	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575858262	chr1:169969761-169969762	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543195524	chr1:169969764-169969765	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149116464	chr1:169969798-169969799	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181830200	chr1:169969835-169969836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186850062	chr1:169969881-169969882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2703 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169904000-170010400	Weak transcription	Aorta	Aorta
2	chr1:169912000-169968600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:169914800-169984000	Weak transcription	Left Ventricle	heart
4	chr1:169914800-169984800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr1:169914800-169988800	Weak transcription	Fetal Intestine Small	intestine
6	chr1:169922000-169984000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:169922400-169996400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:169944800-169989600	Weak transcription	Thymus	Thymus
9	chr1:169945800-169975000	Weak transcription	GM12878-XiMat	blood
10	chr1:169951600-170011800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:169951800-169975000	Weak transcription	Dnd41	blood
12	chr1:169951800-169975200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:169951800-169984800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:169952000-169983200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:169952000-169984600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:169952000-169985200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:169952000-170018000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:169952200-169983000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:169952400-169983000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:169952400-169984600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:169952400-170043000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:169952600-169975400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:169952600-169984800	Weak transcription	Fetal Intestine Large	intestine
24	chr1:169955000-169984800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:169955600-169984800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:169956800-169997400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:169960800-169970800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:169960800-169975000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:169966400-169968600	Weak transcription	Primary T cells from cord blood	blood
30	chr1:169966600-169984600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr1:169966800-169984600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:169966800-169984800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:169967200-169971400	Enhancers	NHDF-Ad	bronchial
34	chr1:169967200-169971600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:169967400-169969000	Enhancers	HSMM	muscle
36	chr1:169967400-169969400	Enhancers	Hela-S3	cervix
37	chr1:169967400-169969400	Enhancers	HMEC	breast
38	chr1:169967400-169969400	Enhancers	NHLF	lung
39	chr1:169967600-169969000	Enhancers	Fetal Lung	lung
40	chr1:169967600-169969400	Enhancers	Brain Germinal Matrix	brain
41	chr1:169967600-170013000	Weak transcription	Fetal Heart	heart
42	chr1:169967800-169968600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:169967800-169969600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:169968000-169968600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr1:169968000-169969000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:169968000-169969000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:169968000-169969000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:169968000-169969000	Enhancers	Brain Anterior Caudate	brain
49	chr1:169968000-169969000	Enhancers	Fetal Stomach	stomach
50	chr1:169968000-169969000	Enhancers	HUVEC	blood vessel

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