Variant report

Variant	nsv1029282
Chromosome Location	chr5:180069992-180251755
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3032)
CpG islands
(count:5560)
Chromatin interactive
region (count:143)
LncRNA
region (count:35)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3032 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:180236745-180237952	GM12878	blood:	n/a	n/a
2	ATF2	chr5:180230701-180231257	GM12878	blood:	n/a	n/a
3	ATF2	chr5:180237110-180237633	GM12878	blood:	n/a	n/a
4	ATF2	chr5:180212570-180213141	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr5:180212679-180213244	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr5:180232067-180232523	GM12878	blood:	n/a	n/a
7	ATF2	chr5:180241124-180241744	GM12878	blood:	n/a	n/a
8	ATF2	chr5:180247668-180248301	GM12878	blood:	n/a	chr5:180248216-180248227
9	ATF2	chr5:180144959-180145359	GM12878	blood:	n/a	n/a
10	ATF2	chr5:180230642-180231278	GM12878	blood:	n/a	n/a
11	ATF2	chr5:180237161-180237598	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr5:180237170-180237691	A549	lung:	n/a	n/a
13	BATF	chr5:180169789-180169977	GM12878	blood:	n/a	n/a
14	BATF	chr5:180145061-180145379	GM12878	blood:	n/a	chr5:180145207-180145218
15	BATF	chr5:180145040-180145312	GM12878	blood:	n/a	chr5:180145207-180145218
16	BATF	chr5:180097198-180097443	GM12878	blood:	n/a	n/a
17	BCL11A	chr5:180232123-180232507	GM12878	blood:	n/a	chr5:180232331-180232340 chr5:180232312-180232321
18	BCL11A	chr5:180145000-180145348	GM12878	blood:	n/a	chr5:180145235-180145244
19	BCL11A	chr5:180230781-180231384	GM12878	blood:	n/a	n/a
20	BCL11A	chr5:180232158-180232406	GM12878	blood:	n/a	chr5:180232331-180232340 chr5:180232312-180232321
21	BCL11A	chr5:180230806-180231108	GM12878	blood:	n/a	n/a
22	BCL11A	chr5:180085399-180085773	GM12878	blood:	n/a	n/a
23	BCL11A	chr5:180145100-180145299	GM12878	blood:	n/a	chr5:180145235-180145244
24	BCL3	chr5:180236674-180237936	A549	lung:	n/a	n/a
25	BCL3	chr5:180229004-180229979	A549	lung:	n/a	chr5:180229768-180229781
26	BCL3	chr5:180229192-180229773	A549	lung:	n/a	n/a
27	BCL3	chr5:180237078-180237785	A549	lung:	n/a	n/a
28	BCL3	chr5:180097085-180097491	GM12878	blood:	n/a	n/a
29	BCLAF1	chr5:180237147-180238092	GM12878	blood:	n/a	n/a
30	BCLAF1	chr5:180232063-180232608	GM12878	blood:	n/a	chr5:180232331-180232340 chr5:180232312-180232321
31	BCLAF1	chr5:180231999-180232495	GM12878	blood:	n/a	chr5:180232331-180232340 chr5:180232312-180232321
32	BCLAF1	chr5:180241139-180241759	GM12878	blood:	n/a	n/a
33	BCLAF1	chr5:180230677-180231223	GM12878	blood:	n/a	n/a
34	BCLAF1	chr5:180237131-180238121	GM12878	blood:	n/a	n/a
35	BCLAF1	chr5:180230612-180231315	GM12878	blood:	n/a	n/a
36	BCLAF1	chr5:180229465-180229929	GM12878	blood:	n/a	chr5:180229768-180229781
37	BCLAF1	chr5:180236822-180237095	GM12878	blood:	n/a	n/a
38	CBX3	chr5:180215613-180215981	K562	blood:	n/a	n/a
39	CBX3	chr5:180237201-180237752	K562	blood:	n/a	n/a
40	CBX3	chr5:180245996-180246265	K562	blood:	n/a	n/a
41	CBX3	chr5:180208965-180209392	K562	blood:	n/a	n/a
42	CBX3	chr5:180198766-180199290	K562	blood:	n/a	n/a
43	CBX3	chr5:180236603-180238282	K562	blood:	n/a	n/a
44	CBX3	chr5:180127492-180127736	K562	blood:	n/a	n/a
45	CBX3	chr5:180198844-180199194	K562	blood:	n/a	n/a
46	CBX3	chr5:180208858-180209504	K562	blood:	n/a	n/a
47	CBX3	chr5:180230256-180231419	K562	blood:	n/a	n/a
48	CEBPB	chr5:180229130-180229686	MCF-7	breast:	n/a	chr5:180229202-180229214
49	CEBPB	chr5:180229262-180229639	ECC-1	luminal epithelium:	n/a	n/a
50	CEBPB	chr5:180244715-180245372	ECC-1	luminal epithelium:	n/a	n/a

(count:5560 , 50 per page) page: 1 2 3 4 5 6 7 ... 112

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:180238795-180238845	BE2_C	brain:	n/a
2	chr5:180166492-180166542	GM19239	blood:	n/a
3	chr5:180167965-180168015	GM12891	blood:	n/a
4	chr5:180236251-180236301	SK-N-MC	brain:	n/a
5	chr5:180237222-180237272	HCT-116	colon:	n/a
6	chr5:180077359-180077409	HEK293	kidney:	embryo
7	chr5:180216985-180217035	H1-hESC	embryonic stem cell:	embryo
8	chr5:180220005-180220055	HMEC	breast:	n/a
9	chr5:180071709-180071759	HCF	heart:	n/a
10	chr5:180238795-180238845	BE2_C	brain:	n/a
11	chr5:180166492-180166542	GM19239	blood:	n/a
12	chr5:180167965-180168015	GM12891	blood:	n/a
13	chr5:180236251-180236301	SK-N-MC	brain:	n/a
14	chr5:180237222-180237272	HCT-116	colon:	n/a
15	chr5:180077359-180077409	HEK293	kidney:	embryo
16	chr5:180216985-180217035	H1-hESC	embryonic stem cell:	embryo
17	chr5:180220005-180220055	HMEC	breast:	n/a
18	chr5:180071709-180071759	HCF	heart:	n/a
19	chr5:180219412-180219462	HRPEpiC	eye:	n/a
20	chr5:180218509-180218559	HEK293	kidney:	embryo
21	chr5:180236251-180236301	Hela-S3	cervix:	n/a
22	chr5:180074878-180074928	HCF	heart:	n/a
23	chr5:180230959-180231009	GM06990	blood:	n/a
24	chr5:180086260-180086310	SAEC	small airway:	n/a
25	chr5:180073780-180073830	RPTEC	kidney:	n/a
26	chr5:180103241-180103291	Caco-2	colon:	n/a
27	chr5:180086260-180086310	HCT-116	colon:	n/a
28	chr5:180075875-180075925	HEK293	kidney:	embryo
29	chr5:180218509-180218559	LNCaP	prostate:	n/a
30	chr5:180238208-180238258	ProgFib	skin:	n/a
31	chr5:180166492-180166542	HEK293	kidney:	embryo
32	chr5:180235800-180235850	GM06990	blood:	n/a
33	chr5:180238795-180238845	HIPEpiC	eye:	n/a
34	chr5:180229164-180229214	H1-hESC	embryonic stem cell:	embryo
35	chr5:180219412-180219462	NB4	blood:	n/a
36	chr5:180076982-180077032	MCF-7	breast:	n/a
37	chr5:180085446-180085496	HAEpiC	amniotic membrane:	n/a
38	chr5:180236652-180236702	AG10803	skin:	n/a
39	chr5:180238795-180238845	HEEpiC	esophagus:	n/a
40	chr5:180071756-180071806	BJ	skin:	n/a
41	chr5:180074878-180074928	NT2-D1	testis:	n/a
42	chr5:180100701-180100751	HUVEC	blood vessel:	n/a
43	chr5:180112929-180112979	HUVEC	blood vessel:	n/a
44	chr5:180236251-180236301	GM06990	blood:	n/a
45	chr5:180077359-180077409	BE2_C	brain:	n/a
46	chr5:180073137-180073187	HCM	heart:	n/a
47	chr5:180227299-180227349	U87	brain:	n/a
48	chr5:180230911-180230961	HPAEpiC	pulmonary alveolar:	n/a
49	chr5:180097910-180097960	HL-60	blood:	n/a
50	chr5:180219412-180219462	PFSK-1	brain:	n/a

(count:143 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr5:180240270..180241199-chr5:180250010..180250973,3	MCF-7	breast:
2	chr5:180146148..180147851-chr5:180235768..180238086,2	K562	blood:
3	chr14:24422551..24423442-chr5:180229136..180229785,2	HCT-116	colon:
4	chr5:180235042..180237389-chr5:180478228..180480101,2	K562	blood:
5	chr5:180048663..180050730-chr5:180113911..180116171,2	K562	blood:
6	chr5:180240270..180241199-chr5:180250010..180250973,3	MCF-7	breast:
7	chr5:180208930..180211085-chr5:180226767..180229407,2	K562	blood:
8	chr5:179720167..179721132-chr5:180096980..180097838,2	K562	blood:
9	chr5:180168086..180169925-chr5:180190599..180192805,2	K562	blood:
10	chr5:180236713..180237305-chr7:39989209..39989914,2	Hela-S3	cervix:
11	chr5:180211640..180213961-chr5:180214094..180219248,5	K562	blood:
12	chr5:180235718..180243084-chr5:180284888..180290652,13	K562	blood:
13	chr5:180222666..180225025-chr5:180609526..180611478,2	K562	blood:
14	chr5:180228338..180229866-chr5:180648635..180650679,2	MCF-7	breast:
15	chr5:179553744..179554692-chr5:180097393..180098230,2	MCF-7	breast:
16	chr15:90744086..90745012-chr5:180236694..180237219,2	Hela-S3	cervix:
17	chr5:180242918..180247354-chr5:180286155..180290033,4	MCF-7	breast:
18	chr5:180228465..180230563-chr5:180681339..180683622,2	MCF-7	breast:
19	chr5:180234969..180240620-chr5:180256376..180260296,6	K562	blood:
20	chr5:180234090..180241537-chr5:180284888..180291277,19	K562	blood:
21	chr5:180221672..180224385-chr5:180256701..180259508,2	K562	blood:
22	chr5:180208930..180211085-chr5:180226767..180229407,2	K562	blood:
23	chr5:180202113..180204208-chr5:180208493..180210882,2	K562	blood:
24	chr5:180067823..180069604-chr5:180072708..180075164,2	K562	blood:
25	chr5:180243951..180250734-chr5:180251337..180254880,9	K562	blood:
26	chr5:180247524..180249478-chr5:180249893..180253077,3	MCF-7	breast:
27	chr5:180228031..180230833-chr5:180251681..180254040,4	K562	blood:
28	chr5:180094037..180096535-chr5:180099976..180102790,2	K562	blood:
29	chr17:79824227..79826340-chr5:180238433..180240406,2	MCF-7	breast:
30	chr5:180158275..180159905-chr5:180163258..180165205,2	K562	blood:
31	chr5:180091768..180093922-chr5:180095583..180097208,2	K562	blood:
32	chr5:180092442..180094516-chr5:180097000..180098654,2	K562	blood:
33	chr5:180136617..180138276-chr5:180153652..180155749,2	K562	blood:
34	chr5:180211185..180212156-chr5:180225940..180226892,9	MCF-7	breast:
35	chr5:180216578..180217657-chr5:180225674..180226614,3	MCF-7	breast:
36	chr5:180209019..180210957-chr5:180453882..180456380,2	K562	blood:
37	chr5:180130605..180132994-chr5:180134010..180136773,2	MCF-7	breast:
38	chr5:180211375..180212214-chr5:180226180..180226854,2	MCF-7	breast:
39	chr5:180211375..180212214-chr5:180226180..180226854,2	MCF-7	breast:
40	chr5:180147687..180149481-chr5:180151717..180153867,2	K562	blood:
41	chr5:180211185..180212156-chr5:180225940..180226892,9	MCF-7	breast:
42	chr5:180234891..180237258-chr5:180687300..180689661,2	MCF-7	breast:
43	chr5:180022631..180025317-chr5:180096101..180098291,2	MCF-7	breast:
44	chr5:180091768..180093922-chr5:180095583..180097208,2	K562	blood:
45	chr5:180228489..180231362-chr5:180631934..180633728,2	MCF-7	breast:
46	chr5:180147687..180149481-chr5:180151717..180153867,2	K562	blood:
47	chr5:180224924..180227171-chr5:180287379..180289877,3	MCF-7	breast:
48	chr5:180216327..180219256-chr5:180485099..180486798,2	K562	blood:
49	chr21:34602670..34603176-chr5:180229179..180229749,2	NB4	blood:
50	chr5:180232261..180234986-chr5:180281971..180283727,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZFP62-3	chr5:180237649-180237920	NONHSAT105811
2	lnc-BTNL8-8	chr5:180190563-180190835	ucscGeneNc_uc003mmk_2
3	lnc-ZFP62-3	chr5:180242414-180242652	NONHSAT105816
4	lnc-ZFP62-3	chr5:180235836-180236076	NONHSAT105812
5	lnc-ZFP62-3	chr5:180229680-180229767	NONHSAT105810
6	lnc-ZFP62-3	chr5:180235838-180236076	NONHSAT105813
7	lnc-BTNL8-5	chr5:180250102-180250965	NONHSAT105820
8	lnc-ZFP62-3	chr5:180235526-180235594	NONHSAT105811
9	lnc-ZFP62-3	chr5:180235841-180236075	NONHSAT105815
10	lnc-ZFP62-3	chr5:180237729-180237938	NONHSAT105815
11	lnc-CNOT6-3	chr5:180111765-180111906	NONHSAT105706
12	lnc-ZFP62-3	chr5:180242414-180242541	NONHSAT105814
13	lnc-CNOT6-3	chr5:180111766-180111906	XLOC_004682
14	lnc-OR2Y1-2	chr5:180189565-180191201	ucscGeneNc_uc003mmj_1
15	lnc-ZFP62-3	chr5:180237192-180237503	NONHSAT105812
16	lnc-CNOT6-3	chr5:180112648-180113546	NONHSAT105706
17	lnc-ZFP62-3	chr5:180222430-180222875	NONHSAT105810
18	lnc-ZFP62-3	chr5:180235844-180236076	NONHSAT105817
19	lnc-FLT4-1	chr5:180098892-180099598	NONHSAT105695
20	lnc-ZFP62-3	chr5:180237040-180237440	NONHSAT105818
21	lnc-CNOT6-3	chr5:180112649-180113546	XLOC_004682
22	lnc-ZFP62-3	chr5:180235839-180236066	NONHSAT105814
23	lnc-ZFP62-3	chr5:180236364-180236875	NONHSAT105817
24	lnc-ZFP62-3	chr5:180236014-180236076	NONHSAT105818
25	lnc-ZFP62-3	chr5:180222406-180222875	NONHSAT105809
26	lnc-ZFP62-3	chr5:180242425-180242567	NONHSAT105809
27	lnc-BTNL8-7	chr5:180229468-180229575	l_3082_chr5:180229467-180230967_thyroid
28	lnc-OR2Y1-1	chr5:180155280-180155484	expReg_chr5_11028_-
29	lnc-ZFP62-3	chr5:180235886-180236076	NONHSAT105811
30	lnc-BTNL8-6	chr5:180237297-180238375	NONHSAT105819
31	lnc-BTNL8-8	chr5:180193918-180195284	ucscGeneNc_uc003mmk_2
32	lnc-ZFP62-3	chr5:180235841-180236076	NONHSAT105816
33	lnc-ZFP62-3	chr5:180237432-180237505	NONHSAT105813
34	lnc-BTNL8-8	chr5:180192279-180192466	ucscGeneNc_uc003mmk_2
35	lnc-BTNL8-7	chr5:180230568-180230967	l_3082_chr5:180229467-180230967_thyroid

No data

Variant related genes	Relation type
RNU1-17P	TF binding region
ENSG00000260841	TF binding region
ENSG00000248717	TF binding region
OR2Y1	TF binding region
FLT4	TF binding region
OR2AI1P	TF binding region
MGAT1	TF binding region
ENSG00000251352	TF binding region
RNU1-17P	CpG island
ENSG00000260841	CpG island
ENSG00000248717	CpG island
OR2Y1	CpG island
FLT4	CpG island
OR2AI1P	CpG island
MGAT1	CpG island
ENSG00000251352	CpG island
ENSG00000145592	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000204628	chromatin interactions
ENSG00000259826	chromatin interactions
ENSG00000165810	chromatin interactions
ENSG00000196670	chromatin interactions
ENSG00000248514	chromatin interactions
ENSG00000146063	chromatin interactions
ENSG00000167799	chromatin interactions
ENSG00000248275	chromatin interactions
ENSG00000236791	chromatin interactions
ENSG00000262413	chromatin interactions
ENSG00000157326	chromatin interactions
ENSG00000114209	chromatin interactions
ENSG00000065883	chromatin interactions
ENSG00000185033	chromatin interactions
ENSG00000233937	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000245060	chromatin interactions
ENSG00000163634	chromatin interactions
ENSG00000264732	chromatin interactions
ENSG00000260841	chromatin interactions
ENSG00000248367	chromatin interactions
ENSG00000146054	chromatin interactions
ENSG00000215256	chromatin interactions
ENSG00000271855	chromatin interactions
ENSG00000081791	chromatin interactions
ENSG00000214295	chromatin interactions
ENSG00000159110	chromatin interactions
ENSG00000131446	chromatin interactions
ENSG00000037280	chromatin interactions
ENSG00000199892	chromatin interactions
ENSG00000183718	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000264549	chromatin interactions
ENSG00000151694	chromatin interactions
ENSG00000050748	chromatin interactions
ENSG00000268397	chromatin interactions
ENSG00000199004	chromatin interactions

Extended variants
information (count: 5641 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:5641 , 50 per page) page: 1 2 3 4 5 6 7 ... 113

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73812636	chr5:180069995-180069996	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139537904	chr5:180070001-180070002	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs187610504	chr5:180070005-180070006	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs73812638	chr5:180070025-180070026	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs532049639	chr5:180070059-180070060	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs73812639	chr5:180070076-180070077	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs560872860	chr5:180070094-180070095	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs529674705	chr5:180070097-180070098	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs77678249	chr5:180070128-180070129	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs149971159	chr5:180070132-180070133	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs307809	chr5:180070155-180070156	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs552383379	chr5:180070167-180070168	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs190947441	chr5:180070172-180070173	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs537751384	chr5:180070205-180070206	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs370683369	chr5:180070225-180070226	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs554400823	chr5:180070233-180070234	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs568004850	chr5:180070240-180070241	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs116129761	chr5:180070241-180070242	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs183078453	chr5:180070261-180070262	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs145410879	chr5:180070295-180070296	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs73812640	chr5:180070296-180070297	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs62407088	chr5:180070297-180070298	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs73812641	chr5:180070316-180070317	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs548251790	chr5:180070326-180070327	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs562410811	chr5:180070354-180070355	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs73812642	chr5:180070376-180070377	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs540260959	chr5:180070378-180070379	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs559878481	chr5:180070403-180070404	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs73812643	chr5:180070406-180070407	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs369082066	chr5:180070418-180070419	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs569042131	chr5:180070419-180070420	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs76645654	chr5:180070430-180070431	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs547976730	chr5:180070431-180070432	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs568039525	chr5:180070439-180070440	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs533817329	chr5:180070462-180070463	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs114629325	chr5:180070481-180070482	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs147305215	chr5:180070490-180070491	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs80035796	chr5:180070563-180070564	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs539928274	chr5:180070597-180070598	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs556343962	chr5:180070675-180070676	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556819990	chr5:180070702-180070703	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148794081	chr5:180070712-180070713	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536103073	chr5:180070749-180070750	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555975858	chr5:180070755-180070756	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535738785	chr5:180070794-180070795	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541329667	chr5:180070802-180070803	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560095936	chr5:180070822-180070823	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573767056	chr5:180070826-180070827	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114933895	chr5:180070842-180070843	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545773731	chr5:180070846-180070847	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	17440070	CNVD
Schizophrenia	21346763	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4094 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180046200-180071800	Weak transcription	Liver	Liver
2	chr5:180046400-180072200	Weak transcription	Right Atrium	heart
3	chr5:180066400-180075600	Enhancers	Spleen	Spleen
4	chr5:180067600-180072200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr5:180068800-180071800	Weak transcription	Lung	lung
6	chr5:180069600-180070600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:180069800-180070000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:180069800-180070400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:180070200-180072600	Bivalent Enhancer	Placenta	Placenta
10	chr5:180070400-180070600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:180070600-180071600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:180070600-180073400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:180071200-180071600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr5:180071200-180073600	Bivalent Enhancer	Adipose Nuclei	Adipose
15	chr5:180071200-180074600	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr5:180071400-180071600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:180071400-180074200	Enhancers	HUVEC	blood vessel
18	chr5:180071600-180072000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:180071600-180073200	Bivalent Enhancer	K562	blood
20	chr5:180071800-180072000	Enhancers	Liver	Liver
21	chr5:180071800-180072000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr5:180071800-180072000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
23	chr5:180071800-180072800	Bivalent Enhancer	Right Ventricle	heart
24	chr5:180071800-180073000	Enhancers	Lung	lung
25	chr5:180071800-180075200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr5:180072000-180072600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:180072000-180072800	Enhancers	Primary hematopoietic stem cells	blood
28	chr5:180072000-180074400	Enhancers	Left Ventricle	heart
29	chr5:180072200-180072400	Enhancers	Right Atrium	heart
30	chr5:180072200-180072600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:180072200-180072600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:180072400-180072600	Weak transcription	Right Atrium	heart
33	chr5:180072400-180072800	Flanking Bivalent TSS/Enh	HepG2	liver
34	chr5:180072400-180073200	Bivalent Enhancer	Fetal Stomach	stomach
35	chr5:180072600-180072800	Enhancers	Right Atrium	heart
36	chr5:180072600-180072800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
37	chr5:180072600-180073800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:180072600-180075000	Enhancers	Placenta	Placenta
39	chr5:180072800-180073000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
40	chr5:180072800-180073000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
41	chr5:180072800-180073000	Bivalent/Poised TSS	HepG2	liver
42	chr5:180072800-180073800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr5:180072800-180075400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
44	chr5:180072800-180075600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr5:180072800-180075600	Weak transcription	Right Atrium	heart
46	chr5:180073000-180073400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
47	chr5:180073000-180073600	Weak transcription	Lung	lung
48	chr5:180073400-180073600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:180073400-180073600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr5:180073600-180073800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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