Variant report

Variant	esv1009587
Chromosome Location	chr2:133015588-133042352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5399)
CpG islands
(count:2323)
Chromatin interactive
region (count:194)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5399 , 50 per page) page: 1 2 3 4 5 6 7 ... 108

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	chr2:133035680-133036126	K562	blood:	n/a	n/a
3	ARID3A	chr2:133032461-133033743	K562	blood:	n/a	n/a
4	ARID3A	chr2:133015019-133015747	K562	blood:	n/a	n/a
5	ARID3A	chr2:133032280-133033731	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:133024878-133031935	K562	blood:	n/a	n/a
7	ARID3A	chr2:133024999-133028006	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:133037976-133039294	K562	blood:	n/a	n/a
9	ARID3A	chr2:133021777-133024659	K562	blood:	n/a	n/a
10	ATF1	chr2:133018613-133021289	K562	blood:	n/a	n/a
11	ATF1	chr2:133032469-133033732	K562	blood:	n/a	n/a
12	ATF1	chr2:133021765-133024691	K562	blood:	n/a	n/a
13	ATF1	chr2:133024991-133031933	K562	blood:	n/a	n/a
14	ATF1	chr2:133016237-133017446	K562	blood:	n/a	n/a
15	ATF2	chr2:133028916-133031075	GM12878	blood:	n/a	n/a
16	ATF3	chr2:133021822-133031930	K562	blood:	n/a	n/a
17	ATF3	chr2:133025667-133026458	K562	blood:	n/a	n/a
18	ATF3	chr2:133018709-133019159	HepG2	liver:	n/a	n/a
19	ATF3	chr2:133028832-133029372	HepG2	liver:	n/a	n/a
20	ATF3	chr2:133038452-133039263	A549	lung:	n/a	n/a
21	ATF3	chr2:133033867-133035240	K562	blood:	n/a	n/a
22	ATF3	chr2:133016311-133016564	HepG2	liver:	n/a	n/a
23	ATF3	chr2:133033300-133033492	K562	blood:	n/a	n/a
24	ATF3	chr2:133031168-133031383	K562	blood:	n/a	n/a
25	ATF3	chr2:133030177-133031040	K562	blood:	n/a	n/a
26	ATF3	chr2:133022578-133022840	K562	blood:	n/a	n/a
27	ATF3	chr2:133018720-133019129	K562	blood:	n/a	n/a
28	ATF3	chr2:133015456-133015748	HepG2	liver:	n/a	n/a
29	ATF3	chr2:133032577-133032719	K562	blood:	n/a	n/a
30	ATF3	chr2:133023055-133023668	K562	blood:	n/a	n/a
31	ATF3	chr2:133028279-133028662	HepG2	liver:	n/a	n/a
32	ATF3	chr2:133038024-133038380	A549	lung:	n/a	n/a
33	ATF3	chr2:133024910-133027663	H1-hESC	embryonic stem cell:	n/a	n/a
34	ATF3	chr2:133020043-133020233	K562	blood:	n/a	n/a
35	ATF3	chr2:133015927-133017546	K562	blood:	n/a	n/a
36	ATF3	chr2:133029515-133030022	K562	blood:	n/a	n/a
37	ATF3	chr2:133030353-133031098	HepG2	liver:	n/a	n/a
38	ATF3	chr2:133034301-133034812	HepG2	liver:	n/a	n/a
39	ATF3	chr2:133016618-133017347	HepG2	liver:	n/a	n/a
40	ATF3	chr2:133022327-133022859	HepG2	liver:	n/a	n/a
41	ATF3	chr2:133032785-133033604	HepG2	liver:	n/a	n/a
42	ATF3	chr2:133025549-133026035	HepG2	liver:	n/a	n/a
43	ATF3	chr2:133035538-133036154	A549	lung:	n/a	n/a
44	ATF3	chr2:133025728-133025957	K562	blood:	n/a	n/a
45	ATF3	chr2:133026663-133026887	GM12878	blood:	n/a	n/a
46	ATF3	chr2:133034363-133034795	K562	blood:	n/a	n/a
47	ATF3	chr2:133031489-133031880	HepG2	liver:	n/a	n/a
48	ATF3	chr2:133032465-133033638	K562	blood:	n/a	n/a
49	ATF3	chr2:133030081-133030808	K562	blood:	n/a	n/a
50	ATF3	chr2:133016628-133016997	K562	blood:	n/a	n/a

(count:2323 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:133018841-133018891	HCT-116	colon:	n/a
2	chr2:133025917-133025967	HRCEpiC	kidney:	n/a
3	chr2:133037546-133037596	Jurkat	blood:	n/a
4	chr2:133018841-133018891	T-47D	breast:	n/a
5	chr2:133015639-133015689	PrEC	prostate:	n/a
6	chr2:133018841-133018891	HCT-116	colon:	n/a
7	chr2:133025917-133025967	HRCEpiC	kidney:	n/a
8	chr2:133037546-133037596	Jurkat	blood:	n/a
9	chr2:133018841-133018891	T-47D	breast:	n/a
10	chr2:133015639-133015689	PrEC	prostate:	n/a
11	chr2:133025917-133025967	HEEpiC	esophagus:	n/a
12	chr2:133022807-133022857	NHBE	bronchial:	n/a
13	chr2:133038912-133038962	MCF-7	breast:	n/a
14	chr2:133023100-133023150	BJ	skin:	n/a
15	chr2:133025917-133025967	HIPEpiC	eye:	n/a
16	chr2:133015665-133015715	HRCEpiC	kidney:	n/a
17	chr2:133016453-133016503	A549	lung:	n/a
18	chr2:133030701-133030751	MCF-7	breast:	n/a
19	chr2:133036194-133036244	HEK293	kidney:	embryo
20	chr2:133036073-133036123	HUVEC	blood vessel:	n/a
21	chr2:133033202-133033252	NHDF-neo	bronchial:	n/a
22	chr2:133036935-133036985	Caco-2	colon:	n/a
23	chr2:133030691-133030741	IMR90	lung:	fetal
24	chr2:133015665-133015715	CMK	blood:	n/a
25	chr2:133037006-133037056	HUVEC	blood vessel:	n/a
26	chr2:133037636-133037686	AoSMC	blood vessel:	n/a
27	chr2:133016799-133016849	AG04450	lung:	fetal
28	chr2:133037546-133037596	T-47D	breast:	n/a
29	chr2:133038912-133038962	SK-N-MC	brain:	n/a
30	chr2:133023100-133023150	HIPEpiC	eye:	n/a
31	chr2:133037546-133037596	AG04449	skin:	fetal
32	chr2:133037006-133037056	MCF-7	breast:	n/a
33	chr2:133038912-133038962	HEEpiC	esophagus:	n/a
34	chr2:133036548-133036598	NB4	blood:	n/a
35	chr2:133037153-133037203	CMK	blood:	n/a
36	chr2:133038927-133038977	ECC-1	luminal epithelium:	n/a
37	chr2:133037057-133037107	GM12878	blood:	n/a
38	chr2:133036019-133036069	AG10803	skin:	n/a
39	chr2:133036194-133036244	HPAEpiC	pulmonary alveolar:	n/a
40	chr2:133037006-133037056	HAEpiC	amniotic membrane:	n/a
41	chr2:133037546-133037596	SKMC	muscle:	n/a
42	chr2:133039143-133039193	SAEC	small airway:	n/a
43	chr2:133033202-133033252	NHBE	bronchial:	n/a
44	chr2:133036548-133036598	Hepatocyte	liver:	n/a
45	chr2:133037636-133037686	HCT-116	colon:	n/a
46	chr2:133015639-133015689	Caco-2	colon:	n/a
47	chr2:133038912-133038962	NHDF-neo	bronchial:	n/a
48	chr2:133036695-133036745	SKMC	muscle:	n/a
49	chr2:133036073-133036123	HRCEpiC	kidney:	n/a
50	chr2:133036873-133036923	NHBE	bronchial:	n/a

(count:194 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr2:133021735..133023570-chr2:133028674..133030666,2	K562	blood:
2	chr17:31149781..31150380-chr2:133035854..133036526,6	MCF-7	breast:
3	chr2:133030105..133030792-chr21:9826729..9827341,2	MCF-7	breast:
4	chr2:133014681..133015764-chr20:26189070..26190458,26	MCF-7	breast:
5	chr2:133010417..133016800-chr21:9824146..9829019,50	K562	blood:
6	chr2:133037534..133038150-chr21:9827119..9827790,2	MCF-7	breast:
7	chr2:133010317..133016704-chr21:9824094..9829011,32	MCF-7	breast:
8	chr12:38535401..38535902-chr2:133016817..133017415,2	MCF-7	breast:
9	chr16:33955725..33957601-chr2:133029342..133031796,2	MCF-7	breast:
10	chr16:33951725..33955226-chr2:133029342..133032486,5	K562	blood:
11	chr2:133035511..133036512-chr6:119558095..119559109,4	MCF-7	breast:
12	chr2:133035208..133036380-chr6:119558135..119559188,4	MCF-7	breast:
13	chr2:133013729..133016735-chr20:26188305..26190826,4	MCF-7	breast:
14	chr1:91851302..91853083-chr2:133035035..133039055,6	K562	blood:
15	chr19:7635601..7636121-chr2:133015921..133016809,2	MCF-7	breast:
16	chr2:133027500..133031769-chr21:9825905..9828905,4	MCF-7	breast:
17	chr16:33951907..33953719-chr2:133029106..133032192,3	MCF-7	breast:
18	chr16:33956695..33957643-chr2:133025283..133025850,2	MCF-7	breast:
19	chr17:45221257..45221782-chr2:133016917..133017640,2	MCF-7	breast:
20	chr2:133027499..133028015-chr6:116776646..116777166,2	MCF-7	breast:
21	chr2:133025804..133026802-chr20:57273035..57273556,4	K562	blood:
22	chr17:31149455..31151173-chr2:133037551..133039052,2	K562	blood:
23	chr2:133035583..133038926-chr2:230044088..230047023,3	K562	blood:
24	chr16:33956654..33957368-chr2:133025178..133025822,2	K562	blood:
25	chr2:133023726..133025567-chr2:133036787..133038950,2	K562	blood:
26	chr19:24184114..24184636-chr2:133038429..133039143,2	MCF-7	breast:
27	chr16:33949853..33950460-chr2:133032799..133033361,2	MCF-7	breast:
28	chr2:133033211..133034907-chrX:136519062..136521940,2	K562	blood:
29	chr2:133038138..133038670-chr5:71146858..71147412,3	MCF-7	breast:
30	chr2:133022864..133024457-chr20:26188888..26191437,2	MCF-7	breast:
31	chr12:127650410..127651159-chr2:133035504..133036500,2	MCF-7	breast:
32	chr16:33951108..33953775-chr2:133025255..133028257,3	MCF-7	breast:
33	chr16:33957194..33957782-chr2:133025249..133025848,2	MCF-7	breast:
34	chr16:33955647..33957340-chr2:133030573..133032108,2	K562	blood:
35	chr16:33955610..33959101-chr2:133023879..133027782,14	K562	blood:
36	chr19:11265994..11266705-chr2:133029358..133030275,2	MCF-7	breast:
37	chr2:133026098..133026689-chr2:133106836..133107370,2	MCF-7	breast:
38	chr2:133014700..133015740-chr21:9825972..9827148,4	MCF-7	breast:
39	chr2:133034324..133035211-chr8:40458783..40459782,2	MCF-7	breast:
40	chr16:14580920..14582477-chr2:133031951..133033531,3	MCF-7	breast:
41	chr2:133034513..133038165-chr21:9824366..9827688,5	K562	blood:
42	chr16:33957999..33960795-chr2:133021474..133023187,2	K562	blood:
43	chr17:31149835..31151349-chr2:133035877..133037511,2	MCF-7	breast:
44	chr2:133023726..133025567-chr2:133036787..133038950,2	K562	blood:
45	chr12:133713986..133716965-chr2:133016799..133018923,2	MCF-7	breast:
46	chr2:133038140..133038648-chr5:71146774..71147415,2	MCF-7	breast:
47	chr2:133015187..133015799-chr21:9825605..9826185,2	K562	blood:
48	chr2:133011277..133017359-chr20:26187383..26191986,21	K562	blood:
49	chr2:133036654..133038926-chr2:230045488..230047023,2	K562	blood:
50	chr2:133031730..133032311-chr21:9826821..9827448,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR39-7	chr2:133038656-133038732	NONHSAT074524
2	lnc-GPR39-7	chr2:133038981-133039086	NONHSAT074524
3	lnc-GPR39-7	chr2:133036673-133036713	NONHSAT074524
4	lnc-GPR39-9	chr2:133019901-133020615	NONHSAT074520
5	lnc-GPR39-7	chr2:133037726-133037732	NONHSAT074524

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
ENSG00000107968	chromatin interactions
ENSG00000264063	chromatin interactions
ENSG00000200434	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000168056	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000104497	chromatin interactions
ENSG00000207986	chromatin interactions
ENSG00000227195	chromatin interactions
ENSG00000161888	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000264462	chromatin interactions
ENSG00000256642	chromatin interactions
ENSG00000239776	chromatin interactions
ENSG00000004897	chromatin interactions
ENSG00000256616	chromatin interactions

Extended variants
information (count: 4751 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:4751 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558226553	chr2:133015589-133015590	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs188125715	chr2:133015596-133015597	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs78075547	chr2:133015600-133015601	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs36148278	chr2:133015601-133015602	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs541321348	chr2:133015602-133015603	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs113675918	chr2:133015603-133015604	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs191218586	chr2:133015604-133015605	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs75625918	chr2:133015609-133015610	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs72869479	chr2:133015612-133015613	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs373482090	chr2:133015614-133015615	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs553188810	chr2:133015617-133015618	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs72869480	chr2:133015619-133015620	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs111389075	chr2:133015625-133015626	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs74890607	chr2:133015626-133015627	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs74693824	chr2:133015628-133015629	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs112524906	chr2:133015630-133015631	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs72869481	chr2:133015637-133015638	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs80347967	chr2:133015644-133015645	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs144614601	chr2:133015648-133015649	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs75705793	chr2:133015649-133015650	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs79930168	chr2:133015650-133015651	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs376376834	chr2:133015651-133015652	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs371433622	chr2:133015653-133015654	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs36147689	chr2:133015664-133015665	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs76632898	chr2:133015666-133015667	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs143018696	chr2:133015668-133015669	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs112876939	chr2:133015673-133015674	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs373781359	chr2:133015677-133015678	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs541983518	chr2:133015681-133015682	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs111452280	chr2:133015683-133015684	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs554205	chr2:133015688-133015689	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs141411231	chr2:133015694-133015695	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs72869482	chr2:133015706-133015707	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs74673702	chr2:133015708-133015709	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs113306582	chr2:133015714-133015715	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs73957387	chr2:133015716-133015717	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs563824880	chr2:133015719-133015720	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs78870510	chr2:133015720-133015721	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs150256471	chr2:133015721-133015722	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs200631194	chr2:133015722-133015723	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs77397179	chr2:133015723-133015724	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs78263260	chr2:133015726-133015727	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs76980088	chr2:133015727-133015728	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs78398186	chr2:133015739-133015740	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs112040002	chr2:133015742-133015743	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs78892339	chr2:133015744-133015745	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs201258639	chr2:133015748-133015749	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs113413216	chr2:133015755-133015756	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs530872076	chr2:133015764-133015765	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs76066906	chr2:133015765-133015766	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1854 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133008400-133017400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
2	chr2:133009800-133017400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:133009800-133017600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:133010400-133017400	ZNF genes & repeats	Colonic Mucosa	Colon
5	chr2:133010400-133017400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr2:133010400-133017600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
7	chr2:133010600-133017400	ZNF genes & repeats	Dnd41	blood
8	chr2:133011000-133017600	ZNF genes & repeats	Fetal Intestine Large	intestine
9	chr2:133011400-133017400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
10	chr2:133011600-133017400	ZNF genes & repeats	Fetal Thymus	thymus
11	chr2:133011800-133016000	ZNF genes & repeats	Fetal Brain Male	brain
12	chr2:133011800-133016600	ZNF genes & repeats	Pancreas	Pancrea
13	chr2:133011800-133017400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
14	chr2:133011800-133017400	ZNF genes & repeats	Esophagus	oesophagus
15	chr2:133011800-133017400	ZNF genes & repeats	Fetal Brain Female	brain
16	chr2:133011800-133017400	ZNF genes & repeats	Small Intestine	intestine
17	chr2:133011800-133017400	ZNF genes & repeats	Thymus	Thymus
18	chr2:133011800-133017400	ZNF genes & repeats	Spleen	Spleen
19	chr2:133012000-133015600	ZNF genes & repeats	Lung	lung
20	chr2:133012000-133017200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:133012000-133017400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
22	chr2:133012000-133017400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:133012000-133017400	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr2:133013000-133016800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:133014000-133017200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:133014000-133017400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr2:133014000-133017400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:133014000-133017400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
29	chr2:133014000-133017400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
30	chr2:133014200-133016600	ZNF genes & repeats	Placenta	Placenta
31	chr2:133014200-133017400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr2:133014200-133017400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:133014200-133017400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
34	chr2:133014200-133017400	ZNF genes & repeats	Ovary	ovary
35	chr2:133014200-133017400	ZNF genes & repeats	Hela-S3	cervix
36	chr2:133014200-133017600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:133014200-133017600	ZNF genes & repeats	HepG2	liver
38	chr2:133014400-133015800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr2:133014400-133015800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:133014400-133017400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:133014400-133017400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
42	chr2:133014400-133017400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
43	chr2:133014600-133015600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:133014600-133015600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:133014600-133015600	Flanking Bivalent TSS/Enh	Gastric	stomach
46	chr2:133014600-133015800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:133014600-133015800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
48	chr2:133014600-133015800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:133014600-133015800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:133014600-133015800	ZNF genes & repeats	Aorta	Aorta

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