Variant report

Variant	esv3429081
Chromosome Location	chr12:58131185-58133683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:210)
CpG islands
(count:611)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:210 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:58132662-58133069	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr12:58131796-58131814	H1-hESC	embryonic stem cell:	n/a	n/a
3	CBX3	chr12:58130941-58131253	K562	blood:	n/a	n/a
4	CHD1	chr12:58131840-58131963	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD1	chr12:58132621-58133184	IMR90	lung:	n/a	n/a
6	CHD2	chr12:58132699-58133135	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr12:58133339-58133346	K562	blood:	n/a	n/a
8	CREB1	chr12:58131670-58131967	A549	lung:	n/a	n/a
9	CREB1	chr12:58132744-58132924	A549	lung:	n/a	n/a
10	CREB1	chr12:58132635-58133007	A549	lung:	n/a	n/a
11	CTBP2	chr12:58129316-58131871	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr12:58131640-58131790	WI-38	lung:	n/a	n/a
13	CTCF	chr12:58131740-58131890	AG09309	skin:	n/a	n/a
14	CTCF	chr12:58131720-58131870	HRPEpiC	eye:	n/a	n/a
15	CTCF	chr12:58131700-58131850	A549	lung:	n/a	n/a
16	CTCF	chr12:58131740-58131890	HepG2	liver:	n/a	n/a
17	CTCF	chr12:58131692-58131866	A549	lung:	n/a	n/a
18	CTCF	chr12:58131720-58131870	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr12:58131740-58131890	AG04450	lung:	n/a	n/a
20	CTCF	chr12:58131889-58131892	Pancreas_OC	pancreas:	n/a	n/a
21	CTCF	chr12:58131400-58131550	HMEC	breast:	n/a	n/a
22	CTCF	chr12:58131714-58131927	Gliobla	brain:	n/a	n/a
23	CTCF	chr12:58131740-58131890	BE2_C	brain:	n/a	n/a
24	CTCF	chr12:58131740-58131890	BJ	skin:	n/a	n/a
25	CTCF	chr12:58131720-58131870	HA-sp	spinal cord:	n/a	n/a
26	CTCF	chr12:58131773-58131881	Pancreas_OC	pancreas:	n/a	n/a
27	CTCF	chr12:58131760-58131910	HMEC	breast:	n/a	n/a
28	CTCF	chr12:58131780-58131930	RPTEC	kidney:	n/a	n/a
29	CTCF	chr12:58131760-58131910	HFF-Myc	foreskin:	n/a	n/a
30	CTCF	chr12:58131726-58131930	Fibrobl	skin:	n/a	n/a
31	CTCF	chr12:58131380-58131530	AG04449	skin:	n/a	n/a
32	CTCF	chr12:58131598-58131909	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr12:58131740-58131890	HEK293	kidney:	n/a	n/a
34	CTCF	chr12:58131712-58131919	A549	lung:	n/a	n/a
35	CTCF	chr12:58131740-58131890	Caco-2	colon:	n/a	n/a
36	CTCF	chr12:58131740-58131890	HPF	lung:	n/a	n/a
37	CTCF	chr12:58131764-58131881	HepG2	liver:	n/a	n/a
38	CTCF	chr12:58131740-58131890	HA-sp	spinal cord:	n/a	n/a
39	CTCF	chr12:58131720-58131870	HCM	heart:	n/a	n/a
40	CTCF	chr12:58131778-58131903	Medullo	brain:	n/a	n/a
41	CTCF	chr12:58131706-58131937	MCF-7	breast:	n/a	n/a
42	CTCF	chr12:58131740-58131890	NHLF	lung:	n/a	n/a
43	CTCF	chr12:58131740-58131890	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr12:58131800-58131950	NHDF-neo	bronchial:	n/a	n/a
45	CTCF	chr12:58131760-58131910	HAc	cerebellar:	n/a	n/a
46	CTCF	chr12:58131720-58131870	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr12:58131686-58131945	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr12:58131720-58131870	AG10803	skin:	n/a	n/a
49	CTCF	chr12:58131320-58131470	HCM	heart:	n/a	n/a
50	CTCF	chr12:58131660-58131810	MCF-7	breast:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:58132105-58132155	HEK293	kidney:	embryo
2	chr12:58132105-58132155	HEK293	kidney:	embryo
3	chr12:58132558-58132608	GM12892	blood:	n/a
4	chr12:58133411-58133461	HAEpiC	amniotic membrane:	n/a
5	chr12:58132733-58132783	RPTEC	kidney:	n/a
6	chr12:58131345-58131395	AG04450	lung:	fetal
7	chr12:58132093-58132143	GM19239	blood:	n/a
8	chr12:58132093-58132143	IMR90	lung:	fetal
9	chr12:58132093-58132143	T-47D	breast:	n/a
10	chr12:58133008-58133058	HUVEC	blood vessel:	n/a
11	chr12:58133411-58133461	A549	lung:	n/a
12	chr12:58133411-58133461	Jurkat	blood:	n/a
13	chr12:58131681-58131731	HIPEpiC	eye:	n/a
14	chr12:58131768-58131818	HNPCEpiC	eye:	n/a
15	chr12:58132093-58132143	ECC-1	luminal epithelium:	n/a
16	chr12:58131768-58131818	AG04450	lung:	fetal
17	chr12:58133411-58133461	K562	blood:	n/a
18	chr12:58132558-58132608	MCF-7	breast:	n/a
19	chr12:58132733-58132783	GM12891	blood:	n/a
20	chr12:58133411-58133461	NT2-D1	testis:	n/a
21	chr12:58131345-58131395	Jurkat	blood:	n/a
22	chr12:58132093-58132143	SK-N-SH_RA	brain:	n/a
23	chr12:58133008-58133058	PFSK-1	brain:	n/a
24	chr12:58133411-58133461	GM12878	blood:	n/a
25	chr12:58132558-58132608	K562	blood:	n/a
26	chr12:58132093-58132143	Hepatocyte	liver:	n/a
27	chr12:58132558-58132608	NHDF-neo	bronchial:	n/a
28	chr12:58132733-58132783	GM12878	blood:	n/a
29	chr12:58133411-58133461	NB4	blood:	n/a
30	chr12:58133008-58133058	AG10803	skin:	n/a
31	chr12:58133488-58133538	AoSMC	blood vessel:	n/a
32	chr12:58132093-58132143	GM12892	blood:	n/a
33	chr12:58132733-58132783	HCM	heart:	n/a
34	chr12:58132558-58132608	A549	lung:	n/a
35	chr12:58132093-58132143	HAEpiC	amniotic membrane:	n/a
36	chr12:58131345-58131395	HRCEpiC	kidney:	n/a
37	chr12:58133488-58133538	HIPEpiC	eye:	n/a
38	chr12:58131768-58131818	PrEC	prostate:	n/a
39	chr12:58132733-58132783	H1-hESC	embryonic stem cell:	embryo
40	chr12:58131768-58131818	HepG2	liver:	n/a
41	chr12:58133488-58133538	CMK	blood:	n/a
42	chr12:58132105-58132155	AG10803	skin:	n/a
43	chr12:58133488-58133538	HCM	heart:	n/a
44	chr12:58133411-58133461	HRPEpiC	eye:	n/a
45	chr12:58131768-58131818	BE2_C	brain:	n/a
46	chr12:58132558-58132608	Caco-2	colon:	n/a
47	chr12:58131768-58131818	NHDF-neo	bronchial:	n/a
48	chr12:58131768-58131818	HIPEpiC	eye:	n/a
49	chr12:58132558-58132608	GM12878	blood:	n/a
50	chr12:58132093-58132143	HepG2	liver:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57984280..57986133-chr12:58130711..58132725,2	K562	blood:
2	chr12:58117957..58120676-chr12:58129042..58131410,3	K562	blood:
3	chr12:58086411..58090647-chr12:58128680..58131579,3	MCF-7	breast:
4	chr12:58119624..58120427-chr12:58131646..58132182,3	MCF-7	breast:
5	chr12:57909973..57915898-chr12:58127755..58134567,15	K562	blood:
6	chr12:57911286..57913384-chr12:58133067..58135116,2	K562	blood:
7	chr12:58133058..58135797-chr12:58239105..58241667,3	MCF-7	breast:
8	chr12:57914398..57918240-chr12:58127433..58131340,5	K562	blood:
9	chr12:57916381..57918711-chr12:58131475..58134282,2	MCF-7	breast:
10	chr12:58119523..58120051-chr12:58132094..58132767,2	MCF-7	breast:
11	chr12:58016846..58018792-chr12:58129433..58131831,2	K562	blood:
12	chr12:57852621..57854513-chr12:58130296..58131944,2	K562	blood:
13	chr12:57985447..57987407-chr12:58128480..58131325,2	MCF-7	breast:
14	chr12:58086918..58087453-chr12:58130392..58131290,2	K562	blood:
15	chr12:57914271..57916098-chr12:58131440..58134732,4	K562	blood:
16	chr12:58112503..58116669-chr12:58128862..58132734,4	K562	blood:
17	chr12:57913785..57915861-chr12:58131130..58132834,2	MCF-7	breast:
18	chr12:58121545..58122179-chr12:58130671..58131607,2	MCF-7	breast:

No data

Variant related genes	Relation type
TSPAN31	TF binding region
AGAP2	TF binding region
TSPAN31	CpG island
AGAP2	CpG island
ENSG00000135506	chromatin interactions
ENSG00000255737	chromatin interactions
ENSG00000208028	chromatin interactions
ENSG00000175215	chromatin interactions
ENSG00000175197	chromatin interactions
ENSG00000166908	chromatin interactions
ENSG00000257499	chromatin interactions
ENSG00000166987	chromatin interactions
ENSG00000135502	chromatin interactions
ENSG00000257342	chromatin interactions
ENSG00000111087	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546452220	chr12:58131229-58131230	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs201146586	chr12:58131251-58131252	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs528656185	chr12:58131253-58131254	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs375484343	chr12:58131272-58131273	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs546380936	chr12:58131296-58131297	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs113244859	chr12:58131303-58131304	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs561812307	chr12:58131312-58131313	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs550548128	chr12:58131329-58131330	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs528929384	chr12:58131336-58131337	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs550139604	chr12:58131422-58131423	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs374339257	chr12:58131534-58131535	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs369927637	chr12:58131535-58131536	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs189215947	chr12:58131605-58131606	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs568848196	chr12:58131669-58131670	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs539366345	chr12:58131881-58131882	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs551236060	chr12:58132176-58132177	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs566554425	chr12:58132239-58132240	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs533950561	chr12:58132242-58132243	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs553228229	chr12:58132652-58132653	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs574870779	chr12:58132662-58132663	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs35726644	chr12:58132732-58132733	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs238528	chr12:58132748-58132749	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs535876694	chr12:58132770-58132771	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs58638984	chr12:58132789-58132790	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs150320930	chr12:58132813-58132814	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs575673780	chr12:58132815-58132816	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs546540259	chr12:58132825-58132826	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs181867087	chr12:58132832-58132833	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs573398281	chr12:58132853-58132854	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs540818829	chr12:58132939-58132940	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs373701223	chr12:58133025-58133026	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs561658656	chr12:58133096-58133097	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs528969565	chr12:58133128-58133129	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs368044616	chr12:58133152-58133153	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs564194181	chr12:58133236-58133237	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs200875500	chr12:58133255-58133256	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs12368653	chr12:58133256-58133257	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
38	rs377307359	chr12:58133292-58133293	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs560045668	chr12:58133328-58133329	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs71461334	chr12:58133348-58133349	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs187670620	chr12:58133374-58133375	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs369912544	chr12:58133376-58133377	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs551274874	chr12:58133381-58133382	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs12368683	chr12:58133406-58133407	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs566746200	chr12:58133412-58133413	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs189139156	chr12:58133440-58133441	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs73338229	chr12:58133490-58133491	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs568493583	chr12:58133546-58133547	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs535968206	chr12:58133569-58133570	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs73338230	chr12:58133571-58133572	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58118400-58132000	Strong transcription	Primary T cells from cord blood	blood
2	chr12:58119200-58132000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:58119600-58131200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr12:58119600-58131400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:58119600-58132400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:58119600-58132800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:58119600-58133000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:58120000-58131400	Strong transcription	Primary B cells from peripheral blood	blood
9	chr12:58120400-58131800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:58120400-58132400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:58121400-58132800	Strong transcription	Thymus	Thymus
12	chr12:58121800-58132400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:58123000-58131400	Strong transcription	Fetal Thymus	thymus
14	chr12:58127800-58133600	Weak transcription	GM12878-XiMat	blood
15	chr12:58128000-58131600	Bivalent Enhancer	Placenta	Placenta
16	chr12:58129000-58131600	Genic enhancers	Primary T cells fromperipheralblood	blood
17	chr12:58129000-58131600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
18	chr12:58129000-58131600	Bivalent Enhancer	Fetal Brain Male	brain
19	chr12:58129000-58131800	Bivalent Enhancer	Fetal Stomach	stomach
20	chr12:58129000-58132200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:58129000-58132400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr12:58129000-58132800	Weak transcription	Dnd41	blood
23	chr12:58129200-58131400	Bivalent Enhancer	Brain Substantia Nigra	brain
24	chr12:58129200-58131800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
25	chr12:58129200-58132600	Weak transcription	Primary B cells from cord blood	blood
26	chr12:58129200-58132600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr12:58129400-58131200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
28	chr12:58129400-58131200	Bivalent Enhancer	Fetal Heart	heart
29	chr12:58129400-58131400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr12:58129400-58131400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:58129400-58131600	Genic enhancers	Spleen	Spleen
32	chr12:58129400-58132200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
33	chr12:58129400-58133000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:58129600-58131400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:58129600-58131400	Bivalent Enhancer	Colonic Mucosa	Colon
36	chr12:58129600-58131400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
37	chr12:58129600-58131800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr12:58129600-58131800	Bivalent Enhancer	Fetal Intestine Small	intestine
39	chr12:58129600-58131800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
40	chr12:58129600-58132000	Flanking Active TSS	Right Ventricle	heart
41	chr12:58129600-58132600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr12:58129600-58132600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:58129600-58132800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:58129600-58133200	Enhancers	Pancreas	Pancrea
45	chr12:58129800-58131200	Bivalent Enhancer	Colon Smooth Muscle	Colon
46	chr12:58129800-58132200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:58129800-58133000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
48	chr12:58130200-58131200	Bivalent Enhancer	Stomach Mucosa	stomach
49	chr12:58130200-58131200	Flanking Bivalent TSS/Enh	HepG2	liver
50	chr12:58130200-58131400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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