Variant report

Variant	rs12314727
Chromosome Location	chr12:124455789-124455790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr12:124455726-124456036	K562	blood:	n/a	n/a
2	CUX1	chr12:124455425-124456091	K562	blood:	n/a	n/a
3	POLR2A	chr12:124455785-124455888	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:124117230..124119880-chr12:124454893..124459230,4	K562	blood:
2	chr12:58147914..58149817-chr12:124454309..124457254,2	MCF-7	breast:
3	chr12:124442245..124448648-chr12:124455013..124459797,7	K562	blood:
4	chr12:124389950..124393053-chr12:124455413..124457949,3	MCF-7	breast:
5	chr12:124450274..124453930-chr12:124454051..124458606,8	K562	blood:
6	chr12:124427289..124429927-chr12:124454570..124456176,2	K562	blood:
7	chr12:124419696..124421587-chr12:124455495..124458360,2	MCF-7	breast:
8	chr12:124450327..124455412-chr12:124455418..124460730,10	K562	blood:
9	chr12:124426853..124428789-chr12:124454676..124457058,3	K562	blood:
10	chr12:124195456..124198460-chr12:124455550..124458339,3	MCF-7	breast:
11	chr12:124116659..124120709-chr12:124455290..124460616,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269938	TF binding region
ENSG00000269997	TF binding region
ENSG00000270061	TF binding region
ZNF664	TF binding region
FAM101A	TF binding region
ENSG00000270061	Chromatin interaction
ENSG00000139266	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000270048	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000269997	Chromatin interaction
ENSG00000269938	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000197653	Chromatin interaction
ENSG00000185344	Chromatin interaction
ENSG00000270005	Chromatin interaction
ENSG00000270130	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12310408	1.00[AMR][1000 genomes]
rs12315269	1.00[AMR][1000 genomes]
rs3867146	1.00[JPT][hapmap]
rs59794984	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3404000	chr12:124455199-124459397	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124427200-124456200	Weak transcription	Esophagus	oesophagus
2	chr12:124428400-124455800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:124428400-124456000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:124428800-124455800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:124430000-124456200	Weak transcription	Fetal Thymus	thymus
6	chr12:124430400-124455800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:124430400-124456000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:124430400-124456000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:124430400-124456000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:124430600-124456200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:124431800-124455800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:124434400-124456200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:124435400-124456000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:124435600-124456000	Weak transcription	Placenta	Placenta
15	chr12:124435800-124456200	Weak transcription	Pancreas	Pancrea
16	chr12:124436400-124455800	Weak transcription	Brain Angular Gyrus	brain
17	chr12:124436400-124456000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:124437000-124456200	Weak transcription	Gastric	stomach
19	chr12:124443800-124455800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:124443800-124456000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:124443800-124456000	Weak transcription	Fetal Kidney	kidney
22	chr12:124445000-124456000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:124446400-124456200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:124446800-124455800	Weak transcription	Stomach Mucosa	stomach
25	chr12:124448000-124456200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:124448000-124456200	Weak transcription	Lung	lung
27	chr12:124448400-124456000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:124449600-124456000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:124450200-124456000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr12:124450400-124456000	Weak transcription	Thymus	Thymus
31	chr12:124450400-124456200	Weak transcription	Ovary	ovary
32	chr12:124450600-124456000	Weak transcription	Fetal Muscle Leg	muscle
33	chr12:124450600-124456000	Weak transcription	Fetal Stomach	stomach
34	chr12:124450600-124456200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:124451400-124455800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:124451400-124455800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:124451400-124456000	Weak transcription	Aorta	Aorta
38	chr12:124451400-124456200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:124451800-124456000	Weak transcription	Right Ventricle	heart
40	chr12:124451800-124456200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr12:124452000-124456000	Weak transcription	HSMMtube	muscle
42	chr12:124452200-124455800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:124452400-124455800	Weak transcription	Primary T cells from cord blood	blood
44	chr12:124452600-124455800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:124452800-124456000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:124453200-124456000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:124453400-124455800	Enhancers	NHEK	skin
48	chr12:124453600-124455800	Weak transcription	Primary B cells from cord blood	blood
49	chr12:124453800-124455800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr12:124453800-124456000	Weak transcription	Adipose Nuclei	Adipose

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