Variant report

Variant	rs12827843
Chromosome Location	chr12:122689161-122689162
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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	chr12:122685663..122693033-chr12:122702446..122708793,8	K562	blood:
5	chr12:122688288..122691366-chr12:122708809..122712145,5	K562	blood:
6	chr12:122689006..122695894-chr12:122708656..122711898,6	MCF-7	breast:
7	chr12:122684854..122691366-chr12:122708809..122712343,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256950	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000139719	Chromatin interaction
ENSG00000256861	Chromatin interaction
ENSG00000184047	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10848035	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11060167	0.88[EUR][1000 genomes]
rs11060333	0.86[EUR][1000 genomes]
rs12578739	0.89[EUR][1000 genomes]
rs12578815	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12578863	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12814516	0.82[EUR][1000 genomes]
rs12816400	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12816499	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12820704	0.89[EUR][1000 genomes]
rs12824385	0.83[EUR][1000 genomes]
rs12826834	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12831210	0.85[EUR][1000 genomes]
rs2068223	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2271408	0.87[EUR][1000 genomes]
rs2277333	0.80[EUR][1000 genomes]
rs35030971	0.83[EUR][1000 genomes]
rs35772530	0.81[EUR][1000 genomes]
rs3809116	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4758649	0.83[EUR][1000 genomes]
rs4758677	0.88[EUR][1000 genomes]
rs7136356	0.83[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
rs12827843	MLXIP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

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	chr12:122687600-122689200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
6	chr12:122687600-122689200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:122687600-122689200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:122687600-122689200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr12:122687600-122689200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr12:122687600-122689200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr12:122687600-122689200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
12	chr12:122687600-122689200	Bivalent/Poised TSS	HepG2	liver
13	chr12:122687600-122689400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr12:122687600-122689400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr12:122687600-122689400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:122687800-122689200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:122687800-122689200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:122687800-122689200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:122687800-122689200	Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr12:122687800-122689200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:122687800-122689200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
22	chr12:122687800-122689200	Flanking Active TSS	Pancreas	Pancrea
23	chr12:122687800-122689200	Flanking Bivalent TSS/Enh	Thymus	Thymus
24	chr12:122687800-122689400	Active TSS	Brain Angular Gyrus	brain
25	chr12:122687800-122689400	Bivalent/Poised TSS	Fetal Brain Female	brain
26	chr12:122688000-122689200	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr12:122688000-122689200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr12:122688000-122689200	Active TSS	Brain Anterior Caudate	brain
29	chr12:122688000-122689200	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr12:122688000-122689200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:122688000-122689400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:122688000-122689400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:122688200-122689200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:122688200-122689200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:122688200-122696600	Weak transcription	Hela-S3	cervix
36	chr12:122688400-122689200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:122688400-122689200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:122688400-122689200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:122688400-122689200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:122688400-122689200	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr12:122688400-122689200	Flanking Active TSS	HMEC	breast
42	chr12:122688400-122689400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
43	chr12:122688400-122689400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:122688400-122689400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:122688600-122689200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:122688600-122689200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
47	chr12:122688600-122689200	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
48	chr12:122688600-122689200	Bivalent Enhancer	Spleen	Spleen
49	chr12:122688600-122689200	Active TSS	HSMM	muscle
50	chr12:122688600-122689200	Bivalent/Poised TSS	NHEK	skin

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