Variant report

Variant	rs56682866
Chromosome Location	chr12:32138325-32138326
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:32138088-32138579	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:32138283-32138530	SK-N-SH	brain:	n/a	n/a
3	BACH1	chr12:32138032-32138730	K562	blood:	n/a	n/a
4	E2F6	chr12:32137876-32138671	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr12:32133625-32140479	K562	blood:	n/a	n/a
6	MAX	chr12:32138193-32138475	K562	blood:	n/a	n/a
7	GTF2F1	chr12:32137950-32138414	K562	blood:	n/a	n/a
8	SETDB1	chr12:32135645-32138895	U2OS	brain:	n/a	n/a
9	POLR2A	chr12:32138090-32138476	HepG2	liver:	n/a	n/a
10	POLR2A	chr12:32138262-32138622	K562	blood:	n/a	n/a
11	CBX3	chr12:32138201-32138491	K562	blood:	n/a	n/a
12	MAX	chr12:32138215-32138431	K562	blood:	n/a	n/a
13	STAT3	chr12:32138324-32138408	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr12:32138229-32138448	H1-hESC	embryonic stem cell:	n/a	n/a
15	GTF2F1	chr12:32135274-32138655	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr12:32138170-32138436	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr12:32133922-32140576	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:32138089-32138603	GM12892	blood:	n/a	n/a
19	KAP1	chr12:32137753-32138726	K562	blood:	n/a	n/a
20	MAX	chr12:32138212-32138494	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr12:32138175-32138493	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:32116375..32119064-chr12:32135432..32138483,3	K562	blood:
2	chr12:32124105..32125918-chr12:32136146..32138764,2	K562	blood:
3	chr12:32111815..32113989-chr12:32136133..32138692,2	MCF-7	breast:
4	chr12:32134776..32136831-chr12:32137992..32139591,2	MCF-7	breast:

No data

Variant related genes	Relation type
KIAA1551	TF binding region
ENSG00000174718	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs16919127	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32114000-32150800	Weak transcription	NHLF	lung
2	chr12:32116000-32141800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr12:32116400-32143200	ZNF genes & repeats	GM12878-XiMat	blood
4	chr12:32120600-32141600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:32120800-32140400	ZNF genes & repeats	Primary T cells from cord blood	blood
6	chr12:32121200-32139000	ZNF genes & repeats	Fetal Brain Female	brain
7	chr12:32121800-32141600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr12:32122600-32138400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:32122600-32139000	ZNF genes & repeats	Primary B cells from cord blood	blood
10	chr12:32123200-32138800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:32123200-32139600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr12:32123200-32143800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
13	chr12:32123400-32143200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
14	chr12:32123800-32143200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
15	chr12:32124600-32140000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
16	chr12:32128400-32138600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
17	chr12:32128400-32138800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr12:32128800-32138400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
19	chr12:32128800-32139800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr12:32128800-32150600	Weak transcription	Hela-S3	cervix
21	chr12:32129400-32139000	ZNF genes & repeats	Fetal Muscle Leg	muscle
22	chr12:32130400-32150200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:32131600-32139800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:32132000-32139000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:32132000-32139200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:32132000-32139800	ZNF genes & repeats	K562	blood
27	chr12:32132200-32138400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
28	chr12:32132200-32139200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
29	chr12:32132200-32139400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
30	chr12:32132200-32139800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr12:32132400-32138800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
32	chr12:32132800-32147200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:32133600-32142000	ZNF genes & repeats	Brain Germinal Matrix	brain
34	chr12:32133800-32138400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
35	chr12:32133800-32138400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:32134800-32142400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:32134800-32149400	Weak transcription	Esophagus	oesophagus
38	chr12:32134800-32149800	Weak transcription	Pancreas	Pancrea
39	chr12:32134800-32151000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:32134800-32155400	Weak transcription	NHDF-Ad	bronchial
41	chr12:32135000-32141600	Weak transcription	Lung	lung
42	chr12:32135000-32142400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr12:32135000-32143000	Weak transcription	Spleen	Spleen
44	chr12:32135000-32147800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:32135000-32148600	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:32135000-32149200	Weak transcription	Brain Substantia Nigra	brain
47	chr12:32135000-32149800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr12:32135000-32149800	Weak transcription	Colon Smooth Muscle	Colon
49	chr12:32135000-32150000	Weak transcription	Right Ventricle	heart
50	chr12:32135000-32150200	Weak transcription	Rectal Smooth Muscle	rectum

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