Variant report

Variant	rs879132
Chromosome Location	chr12:122688780-122688781
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:122687742-122689281	H1-neurons	neurons:	n/a	n/a
2	MXI1	chr12:122687489-122689016	SK-N-SH	brain:	n/a	chr12:122688411-122688426
3	CTCF	chr12:122688700-122688850	SK-N-SH_RA	brain:	n/a	n/a
4	CTCF	chr12:122688720-122688870	SK-N-SH_RA	brain:	n/a	n/a
5	POLR2A	chr12:122688231-122692085	A549	lung:	n/a	n/a
6	GABPA	chr12:122688234-122689022	H1-hESC	embryonic stem cell:	n/a	chr12:122688735-122688744 chr12:122688248-122688257
7	POLR2A	chr12:122688202-122689374	GM12878	blood:	n/a	n/a
8	HMGN3	chr12:122687857-122689034	K562	blood:	n/a	n/a
9	POLR2A	chr12:122688607-122688797	HepG2	liver:	n/a	n/a
10	POLR2A	chr12:122688769-122688808	K562	blood:	n/a	n/a
11	ZBTB7A	chr12:122687727-122689255	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr12:122687780-122688857	K562	blood:	n/a	n/a
13	GABPA	chr12:122688354-122688786	H1-hESC	embryonic stem cell:	n/a	chr12:122688735-122688744
14	ZBTB7A	chr12:122687808-122689407	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122688160..122690771-chr12:122750336..122752523,2	MCF-7	breast:
2	chr12:122686753..122691904-chr12:122708300..122712516,9	MCF-7	breast:
3	chr12:122326336..122328188-chr12:122688489..122691049,2	MCF-7	breast:
4	chr12:122614284..122615813-chr12:122686761..122688798,2	MCF-7	breast:
5	chr12:122685663..122693033-chr12:122702446..122708793,8	K562	blood:
6	chr12:122688288..122691366-chr12:122708809..122712145,5	K562	blood:
7	chr12:122684854..122691366-chr12:122708809..122712343,7	K562	blood:

No data

Variant related genes	Relation type
B3GNT4	TF binding region
ENSG00000139719	Chromatin interaction
ENSG00000175727	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000256861	Chromatin interaction
ENSG00000184047	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10846470	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12424872	0.80[EUR][1000 genomes]
rs55741463	0.83[EUR][1000 genomes]
rs7298397	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7963565	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs872451	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	esv3363771	chr12:122687274-122690547	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs879132	MLXIP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122687400-122689200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:122687400-122689200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
3	chr12:122687400-122689600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:122687400-122690000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr12:122687600-122688800	Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr12:122687600-122688800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr12:122687600-122689000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:122687600-122689000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:122687600-122689000	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr12:122687600-122689000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr12:122687600-122689200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr12:122687600-122689200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:122687600-122689200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:122687600-122689200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr12:122687600-122689200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr12:122687600-122689200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr12:122687600-122689200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
18	chr12:122687600-122689200	Bivalent/Poised TSS	HepG2	liver
19	chr12:122687600-122689400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr12:122687600-122689400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr12:122687600-122689400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:122687800-122688800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:122687800-122688800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:122687800-122688800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
25	chr12:122687800-122689000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:122687800-122689200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:122687800-122689200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:122687800-122689200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:122687800-122689200	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr12:122687800-122689200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:122687800-122689200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
32	chr12:122687800-122689200	Flanking Active TSS	Pancreas	Pancrea
33	chr12:122687800-122689200	Flanking Bivalent TSS/Enh	Thymus	Thymus
34	chr12:122687800-122689400	Active TSS	Brain Angular Gyrus	brain
35	chr12:122687800-122689400	Bivalent/Poised TSS	Fetal Brain Female	brain
36	chr12:122688000-122688800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:122688000-122688800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
38	chr12:122688000-122688800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
39	chr12:122688000-122688800	Flanking Active TSS	Right Ventricle	heart
40	chr12:122688000-122688800	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr12:122688000-122689000	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr12:122688000-122689000	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr12:122688000-122689000	Active TSS	Aorta	Aorta
44	chr12:122688000-122689000	Flanking Active TSS	Ovary	ovary
45	chr12:122688000-122689000	Active TSS	Right Atrium	heart
46	chr12:122688000-122689200	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr12:122688000-122689200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr12:122688000-122689200	Active TSS	Brain Anterior Caudate	brain
49	chr12:122688000-122689200	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr12:122688000-122689200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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