Variant report

Variant	nsv821716
Chromosome Location	chr2:133003197-133049683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7346)
CpG islands
(count:3543)
Chromatin interactive
region (count:260)
LncRNA
region (count:10)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:7346 , 50 per page) page: 1 2 3 4 5 6 7 ... 147

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:133041164-133041233	K562	blood:	n/a	n/a
2	ARID3A	chr2:133024999-133028006	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:133032461-133033743	K562	blood:	n/a	n/a
4	ARID3A	chr2:133037976-133039294	K562	blood:	n/a	n/a
5	ARID3A	chr2:133032280-133033731	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:133021777-133024659	K562	blood:	n/a	n/a
7	ARID3A	chr2:133035680-133036126	K562	blood:	n/a	n/a
8	ARID3A	chr2:133010732-133010763	K562	blood:	n/a	n/a
9	ARID3A	chr2:133024878-133031935	K562	blood:	n/a	n/a
10	ARID3A	chr2:133044459-133044810	HepG2	liver:	n/a	n/a
11	ARID3A	chr2:133011761-133013355	K562	blood:	n/a	n/a
12	ARID3A	chr2:133015019-133015747	K562	blood:	n/a	n/a
13	ATF1	chr2:133021765-133024691	K562	blood:	n/a	n/a
14	ATF1	chr2:133009295-133009427	K562	blood:	n/a	n/a
15	ATF1	chr2:133024991-133031933	K562	blood:	n/a	n/a
16	ATF1	chr2:133032469-133033732	K562	blood:	n/a	n/a
17	ATF1	chr2:133018613-133021289	K562	blood:	n/a	n/a
18	ATF1	chr2:133011772-133013346	K562	blood:	n/a	n/a
19	ATF1	chr2:133044238-133044806	K562	blood:	n/a	n/a
20	ATF1	chr2:133016237-133017446	K562	blood:	n/a	n/a
21	ATF2	chr2:133011823-133013332	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr2:133012462-133013089	GM12878	blood:	n/a	n/a
23	ATF2	chr2:133028916-133031075	GM12878	blood:	n/a	n/a
24	ATF2	chr2:133012312-133013340	GM12878	blood:	n/a	n/a
25	ATF2	chr2:133011836-133012126	GM12878	blood:	n/a	n/a
26	ATF2	chr2:133011825-133013352	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF2	chr2:133011789-133012265	GM12878	blood:	n/a	n/a
28	ATF3	chr2:133020043-133020233	K562	blood:	n/a	n/a
29	ATF3	chr2:133011882-133012110	GM12878	blood:	n/a	n/a
30	ATF3	chr2:133016628-133016997	K562	blood:	n/a	n/a
31	ATF3	chr2:133018709-133019159	HepG2	liver:	n/a	n/a
32	ATF3	chr2:133023055-133023668	K562	blood:	n/a	n/a
33	ATF3	chr2:133012465-133012990	GM12878	blood:	n/a	n/a
34	ATF3	chr2:133016618-133017347	HepG2	liver:	n/a	n/a
35	ATF3	chr2:133015084-133015367	K562	blood:	n/a	n/a
36	ATF3	chr2:133028279-133028662	HepG2	liver:	n/a	n/a
37	ATF3	chr2:133033300-133033492	K562	blood:	n/a	n/a
38	ATF3	chr2:133014997-133015569	A549	lung:	n/a	n/a
39	ATF3	chr2:133033867-133035240	K562	blood:	n/a	n/a
40	ATF3	chr2:133021822-133031930	K562	blood:	n/a	n/a
41	ATF3	chr2:133023013-133023655	HepG2	liver:	n/a	n/a
42	ATF3	chr2:133038452-133039263	A549	lung:	n/a	n/a
43	ATF3	chr2:133029515-133030022	K562	blood:	n/a	n/a
44	ATF3	chr2:133025728-133025957	K562	blood:	n/a	n/a
45	ATF3	chr2:133034363-133034795	K562	blood:	n/a	n/a
46	ATF3	chr2:133032559-133032768	HepG2	liver:	n/a	n/a
47	ATF3	chr2:133011744-133013434	A549	lung:	n/a	n/a
48	ATF3	chr2:133026094-133026523	K562	blood:	n/a	n/a
49	ATF3	chr2:133035538-133036154	A549	lung:	n/a	n/a
50	ATF3	chr2:133012465-133013223	K562	blood:	n/a	n/a

(count:3543 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:133036548-133036598	GM12878	blood:	n/a
2	chr2:133039152-133039202	MCF-7	breast:	n/a
3	chr2:133016799-133016849	H1-hESC	embryonic stem cell:	embryo
4	chr2:133038261-133038311	SK-N-SH	brain:	n/a
5	chr2:133025835-133025885	HEK293	kidney:	embryo
6	chr2:133036548-133036598	GM12878	blood:	n/a
7	chr2:133039152-133039202	MCF-7	breast:	n/a
8	chr2:133016799-133016849	H1-hESC	embryonic stem cell:	embryo
9	chr2:133038261-133038311	SK-N-SH	brain:	n/a
10	chr2:133025835-133025885	HEK293	kidney:	embryo
11	chr2:133014805-133014855	GM12878	blood:	n/a
12	chr2:133011849-133011899	HCPEpiC	choroid plexus:	n/a
13	chr2:133039083-133039133	HUVEC	blood vessel:	n/a
14	chr2:133023100-133023150	BJ	skin:	n/a
15	chr2:133036935-133036985	NB4	blood:	n/a
16	chr2:133014784-133014834	HepG2	liver:	n/a
17	chr2:133011849-133011899	U87	brain:	n/a
18	chr2:133036935-133036985	HPAEpiC	pulmonary alveolar:	n/a
19	chr2:133037546-133037596	HPAEpiC	pulmonary alveolar:	n/a
20	chr2:133039779-133039829	HRCEpiC	kidney:	n/a
21	chr2:133022807-133022857	LNCaP	prostate:	n/a
22	chr2:133023100-133023150	Caco-2	colon:	n/a
23	chr2:133030701-133030751	Hela-S3	cervix:	n/a
24	chr2:133038669-133038719	PFSK-1	brain:	n/a
25	chr2:133018841-133018891	AoSMC	blood vessel:	n/a
26	chr2:133037636-133037686	AG04450	lung:	fetal
27	chr2:133038912-133038962	HUVEC	blood vessel:	n/a
28	chr2:133039143-133039193	PFSK-1	brain:	n/a
29	chr2:133036695-133036745	GM06990	blood:	n/a
30	chr2:133037006-133037056	NB4	blood:	n/a
31	chr2:133039152-133039202	SK-N-MC	brain:	n/a
32	chr2:133015639-133015689	BJ	skin:	n/a
33	chr2:133038098-133038148	HNPCEpiC	eye:	n/a
34	chr2:133012853-133012903	LNCaP	prostate:	n/a
35	chr2:133012182-133012232	LNCaP	prostate:	n/a
36	chr2:133030701-133030751	ProgFib	skin:	n/a
37	chr2:133014765-133014815	GM12891	blood:	n/a
38	chr2:133036194-133036244	RPTEC	kidney:	n/a
39	chr2:133036695-133036745	NH-A	brain:	n/a
40	chr2:133025652-133025702	IMR90	lung:	fetal
41	chr2:133022980-133023030	LNCaP	prostate:	n/a
42	chr2:133015639-133015689	SK-N-SH_RA	brain:	n/a
43	chr2:133036695-133036745	GM12892	blood:	n/a
44	chr2:133030701-133030751	A549	lung:	n/a
45	chr2:133013489-133013539	AG04450	lung:	fetal
46	chr2:133015670-133015720	AG09319	gingival:	n/a
47	chr2:133012353-133012403	AG04449	skin:	fetal
48	chr2:133037057-133037107	SKMC	muscle:	n/a
49	chr2:133013048-133013098	MCF10A-Er-Src	breast:	n/a
50	chr2:133037546-133037596	ECC-1	luminal epithelium:	n/a

(count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr2:133042500..133043310-chr2:162134708..162135564,2	MCF-7	breast:
2	chr16:33948684..33951829-chr2:133031777..133034583,5	MCF-7	breast:
3	chr16:33955610..33959101-chr2:133023879..133027782,14	K562	blood:
4	chr19:24183267..24184972-chr2:133036687..133040151,3	K562	blood:
5	chr1:156185986..156186830-chr2:133012134..133013092,2	MCF-7	breast:
6	chr16:33956654..33957368-chr2:133025178..133025822,2	K562	blood:
7	chr1:91852396..91852987-chr2:133036550..133037057,2	MCF-7	breast:
8	chr1:91851398..91852945-chr2:133020761..133023220,2	K562	blood:
9	chr17:45231539..45232062-chr2:133019343..133019865,2	MCF-7	breast:
10	chr2:133036060..133038050-chrX:108295932..108297713,2	K562	blood:
11	chr16:33951108..33953775-chr2:133025255..133028257,3	MCF-7	breast:
12	chr16:33951695..33952511-chr2:133030758..133031458,2	MCF-7	breast:
13	chr16:33960798..33961786-chr2:133014647..133015193,3	MCF-7	breast:
14	chr16:33962831..33965453-chr2:133011419..133013464,21	MCF-7	breast:
15	chr17:45213139..45213977-chr2:133022711..133023395,2	MCF-7	breast:
16	chr2:133034721..133036011-chr6:119558119..119559094,3	MCF-7	breast:
17	chr2:133036654..133038926-chr2:230045488..230047023,2	K562	blood:
18	chr16:33963085..33964229-chr2:133012332..133013517,6	HCT-116	colon:
19	chr18:33678106..33679707-chr2:133025263..133026972,2	MCF-7	breast:
20	chr2:133013667..133017081-chr20:26187658..26190834,11	MCF-7	breast:
21	chr1:156185068..156187965-chr2:133025307..133027312,2	K562	blood:
22	chr11:45847777..45848777-chr2:133012311..133012945,4	MCF-7	breast:
23	chr17:45214288..45216196-chr2:133019606..133021862,2	MCF-7	breast:
24	chr2:133033299..133034050-chrX:136520044..136520933,2	MCF-7	breast:
25	chr16:33952703..33953232-chr2:133029675..133030305,3	MCF-7	breast:
26	chr2:133026305..133027045-chr20:54154213..54154785,2	MCF-7	breast:
27	chr2:133002822..133003517-chr9:122570668..122571483,2	MCF-7	breast:
28	chr2:133011277..133016757-chr20:26187363..26191986,20	K562	blood:
29	chr2:133024300..133026801-chr2:133029084..133032122,3	K562	blood:
30	chr17:31149812..31150373-chr2:133026713..133027521,2	MCF-7	breast:
31	chr2:133012553..133013467-chr7:80963093..80963608,2	MCF-7	breast:
32	chr2:133036040..133038933-chr8:70602384..70604113,2	K562	blood:
33	chr14:68000160..68000660-chr2:133014688..133015244,2	K562	blood:
34	chr2:133018939..133019440-chrX:111268177..111269157,2	MCF-7	breast:
35	chr12:34416748..34417268-chr2:133025884..133026405,2	MCF-7	breast:
36	chr2:133034522..133037379-chr6:119557092..119560188,5	MCF-7	breast:
37	chr16:33955968..33957203-chr2:133025182..133026996,13	MCF-7	breast:
38	chr2:133024898..133025406-chr3:123289022..123289524,2	MCF-7	breast:
39	chr2:133011920..133013710-chr21:9825482..9828043,33	MCF-7	breast:
40	chr12:20702922..20705906-chr2:133011248..133013650,3	MCF-7	breast:
41	chr1:108112622..108113624-chr2:133037951..133038926,4	MCF-7	breast:
42	chr2:133025309..133026992-chr2:199162275..199163778,2	MCF-7	breast:
43	chr2:133014708..133015262-chr20:26189030..26189862,4	HCT-116	colon:
44	chr2:133038177..133039677-chr2:230044041..230045609,2	MCF-7	breast:
45	chr16:33963139..33963772-chr2:133012277..133013465,4	MCF-7	breast:
46	chr2:133010455..133013497-chrX:108295941..108299311,5	K562	blood:
47	chr1:149857048..149859239-chr2:133028183..133030872,2	MCF-7	breast:
48	chr2:133034652..133037532-chr8:82753267..82756202,5	MCF-7	breast:
49	chr16:33957408..33958237-chr2:133027029..133027823,2	MCF-7	breast:
50	chr18:13749839..13751339-chr2:133036649..133038165,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR39-7	chr2:133038656-133038732	NONHSAT074524
2	lnc-GPR39-7	chr2:133037726-133037732	NONHSAT074524
3	lnc-ANKRD30BL-1	chr2:133046475-133046638	XLOC_002329
4	lnc-GPR39-9	chr2:133019901-133020615	NONHSAT074520
5	lnc-GPR39-7	chr2:133036673-133036713	NONHSAT074524
6	lnc-ANKRD30BL-1	chr2:133043368-133043465	XLOC_002329
7	lnc-GPR39-10	chr2:133013340-133013485	NONHSAT074516
8	lnc-GPR39-10	chr2:133013066-133013266	NONHSAT074516
9	lnc-ANKRD30BL-3	chr2:133015102-133015542	NONHSAT074513
10	lnc-GPR39-7	chr2:133038981-133039086	NONHSAT074524

miRNA name	Chromosome Location	mirBase accession
hsa-miR-663b	chr2:133014543-133014564	MIMAT0005867

No data

Variant related genes	Relation type
ANKRD30BL	TF binding region
CDC27P1	TF binding region
MIR663B	TF binding region
RNA5-8SP5	TF binding region
ANKRD30BL	CpG island
CDC27P1	CpG island
MIR663B	CpG island
RNA5-8SP5	CpG island
ENSG00000256642	chromatin interactions
ENSG00000207986	chromatin interactions
ENSG00000264462	chromatin interactions
ENSG00000227195	chromatin interactions
ENSG00000140538	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000161888	chromatin interactions
ENSG00000168056	chromatin interactions
ENSG00000107968	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000198133	chromatin interactions
ENSG00000256616	chromatin interactions
ENSG00000104497	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000004897	chromatin interactions
ENSG00000256663	chromatin interactions
ENSG00000239776	chromatin interactions
ENSG00000200434	chromatin interactions
ENSG00000264063	chromatin interactions
ENSG00000226958	chromatin interactions
HRASLS5	Mature miRNA region

Extended variants
information (count: 7660 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:7660 , 50 per page) page: 1 2 3 4 5 6 7 ... 154

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77359502	chr2:133003200-133003201	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs76888669	chr2:133003210-133003211	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77481529	chr2:133003212-133003213	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140074671	chr2:133003216-133003217	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs151110586	chr2:133003224-133003225	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79641625	chr2:133003225-133003226	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74992119	chr2:133003229-133003230	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141757837	chr2:133003230-133003231	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112570999	chr2:133003237-133003238	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62164018	chr2:133003240-133003241	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75851280	chr2:133003243-133003244	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75221757	chr2:133003246-133003247	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74332867	chr2:133003247-133003248	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62164019	chr2:133003248-133003249	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62164020	chr2:133003261-133003262	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374046028	chr2:133003263-133003264	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79008599	chr2:133003264-133003265	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201240692	chr2:133003268-133003269	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146342690	chr2:133003270-133003271	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77205553	chr2:133003280-133003281	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78027197	chr2:133003281-133003282	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78491384	chr2:133003282-133003283	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62164022	chr2:133003286-133003287	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368849588	chr2:133003288-133003289	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76537843	chr2:133003290-133003291	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199682602	chr2:133003293-133003294	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200248876	chr2:133003294-133003295	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373090126	chr2:133003299-133003300	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376934111	chr2:133003300-133003301	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78525945	chr2:133003303-133003304	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111599808	chr2:133003312-133003313	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201440027	chr2:133003318-133003319	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199682329	chr2:133003324-133003325	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200504373	chr2:133003329-133003330	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62164039	chr2:133003331-133003332	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374723283	chr2:133003335-133003336	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113648702	chr2:133003337-133003338	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554524913	chr2:133003338-133003339	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376850410	chr2:133003342-133003343	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71257408	chr2:133003350-133003351	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189141372	chr2:133003351-133003352	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543615689	chr2:133003355-133003356	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370606979	chr2:133003357-133003358	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201810175	chr2:133003363-133003364	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79082821	chr2:133003364-133003365	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62164040	chr2:133003367-133003368	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62164041	chr2:133003371-133003372	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201666159	chr2:133003373-133003374	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62164042	chr2:133003396-133003397	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374554823	chr2:133003398-133003399	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2354 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132994800-133008800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr2:132994800-133009800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:132995000-133005000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr2:132996000-133009800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr2:132996200-133005200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr2:132996200-133008600	ZNF genes & repeats	Primary T cells from cord blood	blood
7	chr2:132996600-133003400	Weak transcription	NHEK	skin
8	chr2:133000000-133003200	Weak transcription	Hela-S3	cervix
9	chr2:133000200-133003200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:133000200-133003200	Weak transcription	Placenta	Placenta
11	chr2:133000200-133003200	Weak transcription	Ovary	ovary
12	chr2:133000200-133003200	Weak transcription	Right Ventricle	heart
13	chr2:133000200-133003200	Weak transcription	Small Intestine	intestine
14	chr2:133000600-133003200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:133000800-133003200	Weak transcription	GM12878-XiMat	blood
16	chr2:133000800-133003200	Weak transcription	HSMMtube	muscle
17	chr2:133000800-133003200	Weak transcription	NH-A	brain
18	chr2:133000800-133003200	Weak transcription	NHLF	lung
19	chr2:133001400-133003200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:133002200-133003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:133002200-133003600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:133002200-133003800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr2:133002200-133003800	ZNF genes & repeats	Fetal Brain Male	brain
24	chr2:133002200-133004800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
25	chr2:133002200-133009600	ZNF genes & repeats	Liver	Liver
26	chr2:133002200-133009800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr2:133002400-133003200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:133002400-133003200	Weak transcription	HUVEC	blood vessel
29	chr2:133002800-133003200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:133002800-133003600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr2:133002800-133003800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
32	chr2:133003000-133003600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
33	chr2:133003000-133003600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:133003000-133003600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:133003000-133003600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:133003000-133003600	ZNF genes & repeats	Primary B cells from cord blood	blood
37	chr2:133003000-133003600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:133003000-133003600	ZNF genes & repeats	Brain Hippocampus Middle	brain
39	chr2:133003000-133003600	ZNF genes & repeats	Colon Smooth Muscle	Colon
40	chr2:133003000-133003600	ZNF genes & repeats	Fetal Stomach	stomach
41	chr2:133003000-133003600	ZNF genes & repeats	Psoas Muscle	Psoas
42	chr2:133003000-133003600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
43	chr2:133003000-133003600	ZNF genes & repeats	HMEC	breast
44	chr2:133003000-133003800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
45	chr2:133003000-133003800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:133003000-133003800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:133003200-133003400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:133003200-133003400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:133003200-133003400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:133003200-133003600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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