Variant report

Variant	nsv1013314
Chromosome Location	chr1:180127036-180187922
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1549)
CpG islands
(count:1225)
Chromatin interactive
region (count:172)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1549 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:180139916-180140078	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:180126557-180127258	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:180148047-180148334	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:180150216-180150516	K562	blood:	n/a	n/a
5	ATF1	chr1:180179499-180179662	K562	blood:	n/a	n/a
6	ATF2	chr1:180137751-180138198	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr1:180182517-180182880	GM12878	blood:	n/a	chr1:180182707-180182716 chr1:180182696-180182716
8	ATF3	chr1:180182608-180182852	K562	blood:	n/a	chr1:180182707-180182716 chr1:180182696-180182716
9	ATF3	chr1:180147943-180148199	K562	blood:	n/a	n/a
10	BACH1	chr1:180138055-180138076	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr1:180137235-180137411	H1-hESC	embryonic stem cell:	n/a	chr1:180137361-180137375
12	BACH1	chr1:180182546-180182853	K562	blood:	n/a	n/a
13	BHLHE40	chr1:180163938-180164285	K562	blood:	n/a	n/a
14	BHLHE40	chr1:180157245-180157730	HepG2	liver:	n/a	n/a
15	BHLHE40	chr1:180137959-180138120	K562	blood:	n/a	n/a
16	BHLHE40	chr1:180137285-180137490	HepG2	liver:	n/a	chr1:180137460-180137476
17	BHLHE40	chr1:180150356-180150566	K562	blood:	n/a	n/a
18	BHLHE40	chr1:180147983-180148260	K562	blood:	n/a	n/a
19	BHLHE40	chr1:180157355-180158219	K562	blood:	n/a	n/a
20	BHLHE40	chr1:180148786-180148874	K562	blood:	n/a	n/a
21	BHLHE40	chr1:180147875-180148291	GM12878	blood:	n/a	n/a
22	BHLHE40	chr1:180186290-180186357	K562	blood:	n/a	chr1:180186329-180186338 chr1:180186330-180186339 chr1:180186329-180186338
23	BHLHE40	chr1:180182510-180183003	K562	blood:	n/a	chr1:180182706-180182715 chr1:180182707-180182716 chr1:180182701-180182722 chr1:180182708-180182717 chr1:180182705-180182718 chr1:180182707-180182716
24	BRCA1	chr1:180157382-180157663	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr1:180127656-180127748	HepG2	liver:	n/a	n/a
26	BRCA1	chr1:180137854-180138043	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr1:180137160-180137498	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr1:180137028-180137061	HepG2	liver:	n/a	n/a
29	BRCA1	chr1:180138052-180138053	HepG2	liver:	n/a	n/a
30	CBX3	chr1:180182520-180183175	K562	blood:	n/a	n/a
31	CBX3	chr1:180182521-180182901	K562	blood:	n/a	n/a
32	CBX3	chr1:180163932-180164282	K562	blood:	n/a	n/a
33	CCNT2	chr1:180165896-180166063	K562	blood:	n/a	n/a
34	CCNT2	chr1:180152002-180152161	K562	blood:	n/a	n/a
35	CEBPB	chr1:180184049-180184224	A549	lung:	n/a	n/a
36	CEBPB	chr1:180140614-180140896	K562	blood:	n/a	chr1:180140693-180140701
37	CEBPB	chr1:180126840-180127039	HepG2	liver:	n/a	n/a
38	CEBPB	chr1:180129563-180129888	IMR90	lung:	n/a	chr1:180129726-180129737
39	CEBPB	chr1:180132330-180132459	HepG2	liver:	n/a	chr1:180132382-180132393
40	CEBPB	chr1:180129581-180129876	A549	lung:	n/a	chr1:180129726-180129737
41	CEBPB	chr1:180132247-180132510	K562	blood:	n/a	chr1:180132382-180132393
42	CEBPB	chr1:180148008-180148283	K562	blood:	n/a	n/a
43	CEBPB	chr1:180126796-180127146	HepG2	liver:	n/a	n/a
44	CEBPB	chr1:180137047-180137547	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr1:180140703-180140816	A549	lung:	n/a	n/a
46	CEBPB	chr1:180129553-180129902	H1-hESC	embryonic stem cell:	n/a	chr1:180129726-180129737
47	CEBPB	chr1:180129577-180129826	K562	blood:	n/a	chr1:180129726-180129737
48	CEBPB	chr1:180140640-180140920	HepG2	liver:	n/a	chr1:180140693-180140701
49	CEBPB	chr1:180157372-180157602	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr1:180140689-180140922	IMR90	lung:	n/a	chr1:180140693-180140701

(count:1225 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:180137918-180137968	IMR90	lung:	fetal
2	chr1:180144025-180144075	IMR90	lung:	fetal
3	chr1:180153485-180153535	AG04449	skin:	fetal
4	chr1:180165648-180165698	HCM	heart:	n/a
5	chr1:180153485-180153535	ovcar-3	ovarian:	n/a
6	chr1:180137918-180137968	IMR90	lung:	fetal
7	chr1:180144025-180144075	IMR90	lung:	fetal
8	chr1:180153485-180153535	AG04449	skin:	fetal
9	chr1:180165648-180165698	HCM	heart:	n/a
10	chr1:180153485-180153535	ovcar-3	ovarian:	n/a
11	chr1:180144025-180144075	PANC-1	pancreas:	n/a
12	chr1:180166674-180166724	Hela-S3	cervix:	n/a
13	chr1:180166674-180166724	HIPEpiC	eye:	n/a
14	chr1:180137918-180137968	HPAEpiC	pulmonary alveolar:	n/a
15	chr1:180161452-180161502	Hela-S3	cervix:	n/a
16	chr1:180134498-180134548	GM12878	blood:	n/a
17	chr1:180161452-180161502	AG10803	skin:	n/a
18	chr1:180148192-180148242	A549	lung:	n/a
19	chr1:180137918-180137968	SK-N-SH_RA	brain:	n/a
20	chr1:180166190-180166240	NB4	blood:	n/a
21	chr1:180153485-180153535	T-47D	breast:	n/a
22	chr1:180161452-180161502	MCF-7	breast:	n/a
23	chr1:180165648-180165698	AG04450	lung:	fetal
24	chr1:180161452-180161502	HCT-116	colon:	n/a
25	chr1:180167117-180167167	HCPEpiC	choroid plexus:	n/a
26	chr1:180127817-180127867	SK-N-SH_RA	brain:	n/a
27	chr1:180153485-180153535	HCPEpiC	choroid plexus:	n/a
28	chr1:180166190-180166240	ovcar-3	ovarian:	n/a
29	chr1:180153485-180153535	GM06990	blood:	n/a
30	chr1:180170249-180170299	ECC-1	luminal epithelium:	n/a
31	chr1:180168167-180168217	HL-60	blood:	n/a
32	chr1:180136887-180136937	AG09319	gingival:	n/a
33	chr1:180165648-180165698	HIPEpiC	eye:	n/a
34	chr1:180137918-180137968	HCF	heart:	n/a
35	chr1:180166190-180166240	RPTEC	kidney:	n/a
36	chr1:180165648-180165698	AG04449	skin:	fetal
37	chr1:180168167-180168217	HIPEpiC	eye:	n/a
38	chr1:180170249-180170299	PFSK-1	brain:	n/a
39	chr1:180144025-180144075	RPTEC	kidney:	n/a
40	chr1:180136887-180136937	A549	lung:	n/a
41	chr1:180144025-180144075	GM12891	blood:	n/a
42	chr1:180166674-180166724	HUVEC	blood vessel:	n/a
43	chr1:180168167-180168217	HepG2	liver:	n/a
44	chr1:180137918-180137968	Hepatocyte	liver:	n/a
45	chr1:180136887-180136937	U87	brain:	n/a
46	chr1:180136887-180136937	HRE	kidney:	n/a
47	chr1:180157401-180157451	HMEC	breast:	n/a
48	chr1:180138771-180138821	GM19239	blood:	n/a
49	chr1:180167084-180167134	CMK	blood:	n/a
50	chr1:180167084-180167134	U87	brain:	n/a

(count:172 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr1:180170458..180172735-chr1:180177820..180180724,2	MCF-7	breast:
2	chr1:180137006..180140195-chr1:180141575..180145480,5	K562	blood:
3	chr1:180151242..180153585-chr1:180154166..180155979,2	MCF-7	breast:
4	chr1:180157851..180159409-chr1:180159735..180161240,2	K562	blood:
5	chr1:180135428..180138250-chr1:180150894..180153157,2	MCF-7	breast:
6	chr1:180165121..180168883-chr1:180170132..180173645,4	MCF-7	breast:
7	chr1:180067800..180070199-chr1:180137539..180139968,2	MCF-7	breast:
8	chr1:180117559..180119742-chr1:180141705..180143239,2	K562	blood:
9	chr1:179848457..179853504-chr1:180134970..180139712,7	MCF-7	breast:
10	chr1:180123454..180124007-chr1:180136876..180137442,2	MCF-7	breast:
11	chr1:180156865..180157706-chr1:180384959..180385623,2	K562	blood:
12	chr1:180152760..180154935-chr1:180161699..180163252,2	K562	blood:
13	chr1:180159949..180162056-chr1:180168756..180171575,2	K562	blood:
14	chr1:180163252..180165050-chr1:180165265..180167767,3	K562	blood:
15	chr1:180157048..180157967-chr1:180446543..180447542,2	K562	blood:
16	chr1:180157764..180160729-chr1:180196773..180199044,2	MCF-7	breast:
17	chr1:180169524..180172441-chr1:180177261..180179017,2	K562	blood:
18	chr1:180133297..180136167-chr1:180140744..180142405,2	K562	blood:
19	chr1:180155464..180157247-chr1:180221856..180223365,2	K562	blood:
20	chr1:180049245..180049876-chr1:180136968..180137682,4	MCF-7	breast:
21	chr1:180155609..180157306-chr1:180443324..180446117,2	MCF-7	breast:
22	chr1:180152753..180155932-chr1:180156941..180161376,5	K562	blood:
23	chr1:180160617..180162181-chr1:180163324..180165275,2	K562	blood:
24	chr1:180136942..180138768-chr1:180470029..180472355,3	MCF-7	breast:
25	chr1:180179618..180183395-chr1:180184350..180187119,5	K562	blood:
26	chr1:180171758..180175004-chr1:180197871..180201254,4	MCF-7	breast:
27	chr1:180155978..180158084-chr1:180185932..180188850,2	K562	blood:
28	chr1:180167145..180169996-chr1:180470230..180472762,2	MCF-7	breast:
29	chr1:180176787..180178486-chr1:180178566..180180351,2	MCF-7	breast:
30	chr1:180151479..180154072-chr1:180156282..180158155,2	MCF-7	breast:
31	chr1:180136278..180138726-chr1:180139135..180141968,2	K562	blood:
32	chr1:180167194..180169146-chr1:180469710..180471466,2	MCF-7	breast:
33	chr1:180157564..180158553-chr1:180385566..180386276,2	MCF-7	breast:
34	chr1:180150092..180151839-chr1:180169268..180171953,2	MCF-7	breast:
35	chr1:180183763..180186747-chr1:180199591..180203355,3	MCF-7	breast:
36	chr1:180178164..180181001-chr1:180185466..180188104,2	MCF-7	breast:
37	chr1:180122503..180126966-chr1:180138058..180140284,3	K562	blood:
38	chr1:180094856..180097003-chr1:180124933..180127557,2	K562	blood:
39	chr1:180048120..180049622-chr1:180134453..180137364,2	MCF-7	breast:
40	chr1:180157037..180158401-chr1:180451224..180451939,3	K562	blood:
41	chr1:180136278..180138726-chr1:180139135..180141968,2	K562	blood:
42	chr1:180127970..180130993-chr1:180131088..180133092,3	K562	blood:
43	chr1:180158876..180161561-chr1:180163823..180167690,5	MCF-7	breast:
44	chr1:180133297..180136167-chr1:180140744..180142405,2	K562	blood:
45	chr1:180139648..180141218-chr1:180469440..180471988,2	MCF-7	breast:
46	chr1:180151479..180154072-chr1:180156282..180158155,2	MCF-7	breast:
47	chr1:180132376..180134766-chr1:180135945..180137966,2	K562	blood:
48	chr1:180183081..180185563-chr1:180187908..180189784,2	K562	blood:
49	chr1:180126694..180127207-chr1:180136974..180137624,2	MCF-7	breast:
50	chr1:179836525..179837773-chr1:180147693..180148973,10	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LHX4-1	chr1:180167144-180169859	NONHSAT008249
2	lnc-ACBD6-2	chr1:180166485-180167167	ENSG00000247866
3	lnc-ACBD6-2	chr1:180150090-180151749	ENSG00000247866

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	QSOX1	hsa-miR-124-3p	chr1:180167079-180167099
2	QSOX1	hsa-miR-124-3p	chr1:180166871-180166877

Variant related genes	Relation type
QSOX1	TF binding region
QSOX1	CpG island
ENSG00000135847	chromatin interactions
ENSG00000143337	chromatin interactions
ENSG00000272906	chromatin interactions
ENSG00000168298	chromatin interactions
ENSG00000116260	chromatin interactions
ENSG00000261817	chromatin interactions
ENSG00000229407	chromatin interactions
ENSG00000121454	chromatin interactions
ENSG00000135837	chromatin interactions
ENSG00000260360	chromatin interactions
ENSG00000169905	chromatin interactions
PHLPP2	miRNA target sites

Extended variants
information (count: 2647 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2647 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16855344	chr1:180127036-180127037	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149058138	chr1:180127050-180127051	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs74919047	chr1:180127057-180127058	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs535964945	chr1:180127085-180127086	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs6425611	chr1:180127107-180127108	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs375327682	chr1:180127125-180127126	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs560643925	chr1:180127194-180127195	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs376437148	chr1:180127197-180127198	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs529541598	chr1:180127207-180127208	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs531139437	chr1:180127257-180127258	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs543131175	chr1:180127285-180127286	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs11801243	chr1:180127351-180127352	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs368982351	chr1:180127360-180127361	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs531729188	chr1:180127375-180127376	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs3767191	chr1:180127380-180127381	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs571626109	chr1:180127386-180127387	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs142134885	chr1:180127408-180127409	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs533010152	chr1:180127454-180127455	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs151138822	chr1:180127458-180127459	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs567100216	chr1:180127465-180127466	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs536075474	chr1:180127546-180127547	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs555830164	chr1:180127550-180127551	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs3767190	chr1:180127594-180127595	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs140246706	chr1:180127696-180127697	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs3820310	chr1:180127697-180127698	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs3842829	chr1:180127748-180127749	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs540908294	chr1:180127750-180127751	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs554542777	chr1:180127804-180127805	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs574278419	chr1:180127819-180127820	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs182669918	chr1:180127909-180127910	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs188082310	chr1:180127915-180127916	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs576419359	chr1:180127934-180127935	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545499840	chr1:180127944-180127945	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs3842830	chr1:180127990-180127991	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs527712505	chr1:180128004-180128005	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs192729965	chr1:180128007-180128008	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560888419	chr1:180128024-180128025	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs61828288	chr1:180128044-180128045	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs538358189	chr1:180128076-180128077	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs75461034	chr1:180128089-180128090	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs185152926	chr1:180128157-180128158	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs145523471	chr1:180128168-180128169	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs557446694	chr1:180128170-180128171	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs117886031	chr1:180128181-180128182	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs534648552	chr1:180128195-180128196	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs577415226	chr1:180128200-180128201	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs138137320	chr1:180128227-180128228	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs574337933	chr1:180128251-180128252	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs536954887	chr1:180128299-180128300	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs72710693	chr1:180128351-180128352	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

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
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	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
Glioblastoma multiforme	21080181	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
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
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	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
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD

Chromatin state (count:1596 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180124600-180127200	Flanking Active TSS	NH-A	brain
2	chr1:180124600-180129400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:180124800-180128000	Enhancers	Liver	Liver
4	chr1:180124800-180151000	Weak transcription	Aorta	Aorta
5	chr1:180125000-180127200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:180125000-180127400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:180125000-180127400	Active TSS	Esophagus	oesophagus
8	chr1:180125000-180127600	Enhancers	Fetal Heart	heart
9	chr1:180125000-180127600	Active TSS	Rectal Smooth Muscle	rectum
10	chr1:180125000-180128400	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr1:180125000-180129400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:180125000-180133200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:180125000-180136000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:180125200-180127400	Flanking Active TSS	Osteobl	bone
15	chr1:180125200-180127600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:180125200-180128000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr1:180125200-180128200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:180125200-180129000	Enhancers	Gastric	stomach
19	chr1:180125200-180129600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr1:180125200-180134600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:180125200-180137400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:180125200-180150400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:180125400-180130800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr1:180125400-180134800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:180125600-180127400	Enhancers	HSMM	muscle
26	chr1:180125600-180128200	Enhancers	Lung	lung
27	chr1:180125600-180128600	Enhancers	Fetal Intestine Large	intestine
28	chr1:180125600-180129000	Enhancers	Fetal Intestine Small	intestine
29	chr1:180125600-180129000	Enhancers	Left Ventricle	heart
30	chr1:180125600-180129400	Weak transcription	Fetal Thymus	thymus
31	chr1:180125600-180133200	Weak transcription	Thymus	Thymus
32	chr1:180125600-180136400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:180125600-180159200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr1:180125800-180127200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:180125800-180127200	Enhancers	Brain Hippocampus Middle	brain
36	chr1:180125800-180127600	Enhancers	Brain Anterior Caudate	brain
37	chr1:180125800-180127800	Enhancers	HUVEC	blood vessel
38	chr1:180125800-180129600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr1:180125800-180135800	Weak transcription	Primary T cells from cord blood	blood
40	chr1:180126000-180127400	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr1:180126000-180127400	Enhancers	Ovary	ovary
42	chr1:180126000-180127600	Enhancers	Fetal Brain Male	brain
43	chr1:180126000-180127800	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr1:180126000-180129000	Enhancers	Fetal Lung	lung
45	chr1:180126000-180132600	Weak transcription	Primary B cells from cord blood	blood
46	chr1:180126000-180135600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:180126000-180136800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:180126000-180151000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr1:180126000-180151400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:180126200-180127600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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