Variant report

Variant	rs565077243
Chromosome Location	chr12:124455916-124455917
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 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	MAZ	chr12:124455899-124458832	IMR90	lung:	n/a	chr12:124457562-124457572 chr12:124457558-124457568 chr12:124457947-124457957 chr12:124457536-124457545 chr12:124457385-124457395
3	MXI1	chr12:124455887-124459788	SK-N-SH	brain:	n/a	n/a
4	CUX1	chr12:124455425-124456091	K562	blood:	n/a	n/a
5	MAFK	chr12:124455840-124456417	IMR90	lung:	n/a	n/a
6	MXI1	chr12:124455833-124459062	IMR90	lung:	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
FAM101A	TF binding region
ZNF664	TF binding region
ENSG00000270061	TF binding region
ENSG00000269938	TF binding region
ENSG00000269997	TF binding region
ENSG00000270048	Chromatin interaction
ENSG00000185344	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000270130	Chromatin interaction
ENSG00000139266	Chromatin interaction
ENSG00000197653	Chromatin interaction
ENSG00000270005	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000269997	Chromatin interaction
ENSG00000270061	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000269938	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	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
3	esv3437066	chr12:124455824-124458572	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124427200-124456200	Weak transcription	Esophagus	oesophagus
2	chr12:124428400-124456000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:124430000-124456200	Weak transcription	Fetal Thymus	thymus
4	chr12:124430400-124456000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:124430400-124456000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:124430400-124456000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:124430600-124456200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:124434400-124456200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr12:124435400-124456000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:124435600-124456000	Weak transcription	Placenta	Placenta
11	chr12:124435800-124456200	Weak transcription	Pancreas	Pancrea
12	chr12:124436400-124456000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:124437000-124456200	Weak transcription	Gastric	stomach
14	chr12:124443800-124456000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:124443800-124456000	Weak transcription	Fetal Kidney	kidney
16	chr12:124445000-124456000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:124446400-124456200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:124448000-124456200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:124448000-124456200	Weak transcription	Lung	lung
20	chr12:124448400-124456000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:124449600-124456000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:124450200-124456000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:124450400-124456000	Weak transcription	Thymus	Thymus
24	chr12:124450400-124456200	Weak transcription	Ovary	ovary
25	chr12:124450600-124456000	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:124450600-124456000	Weak transcription	Fetal Stomach	stomach
27	chr12:124450600-124456200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:124451400-124456000	Weak transcription	Aorta	Aorta
29	chr12:124451400-124456200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:124451800-124456000	Weak transcription	Right Ventricle	heart
31	chr12:124451800-124456200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr12:124452000-124456000	Weak transcription	HSMMtube	muscle
33	chr12:124452800-124456000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:124453200-124456000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:124453800-124456000	Weak transcription	Adipose Nuclei	Adipose
36	chr12:124454600-124456000	Weak transcription	HSMM	muscle
37	chr12:124454600-124457400	Active TSS	Right Atrium	heart
38	chr12:124454600-124459800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:124454800-124456000	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr12:124454800-124456000	Enhancers	Dnd41	blood
41	chr12:124455000-124456000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:124455000-124456000	Weak transcription	Left Ventricle	heart
43	chr12:124455000-124456400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:124455000-124458600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:124455200-124456000	Active TSS	Brain Hippocampus Middle	brain
46	chr12:124455200-124456000	Enhancers	Fetal Lung	lung
47	chr12:124455200-124456000	Weak transcription	Psoas Muscle	Psoas
48	chr12:124455200-124456200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:124455200-124456200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:124455200-124456200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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