Variant report

Variant	rs148341424
Chromosome Location	chr12:124455217-124455218
allele	C/T
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	chr12:124117230..124119880-chr12:124454893..124459230,4	K562	blood:
2	chr12:58147914..58149817-chr12:124454309..124457254,2	MCF-7	breast:
3	chr12:124450327..124455412-chr12:124455418..124460730,10	K562	blood:
4	chr12:124442245..124448648-chr12:124455013..124459797,7	K562	blood:
5	chr12:124450274..124453930-chr12:124454051..124458606,8	K562	blood:
6	chr12:124427289..124429927-chr12:124454570..124456176,2	K562	blood:
7	chr12:124426853..124428789-chr12:124454676..124457058,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000119242	Chromatin interaction
ENSG00000179195	Chromatin interaction
ENSG00000270048	Chromatin interaction
ENSG00000178882	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000270130	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000270095	Chromatin interaction
ENSG00000269997	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000139266	Chromatin interaction
ENSG00000269938	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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:101 , 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	chr12:124430200-124455600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:124430400-124455800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:124430400-124456000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:124430400-124456000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:124430400-124456000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:124430600-124456200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:124431800-124455800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:124434400-124456200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr12:124435400-124456000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:124435600-124456000	Weak transcription	Placenta	Placenta
16	chr12:124435800-124456200	Weak transcription	Pancreas	Pancrea
17	chr12:124436400-124455800	Weak transcription	Brain Angular Gyrus	brain
18	chr12:124436400-124456000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:124437000-124456200	Weak transcription	Gastric	stomach
20	chr12:124443800-124455600	Weak transcription	Fetal Heart	heart
21	chr12:124443800-124455800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:124443800-124456000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:124443800-124456000	Weak transcription	Fetal Kidney	kidney
24	chr12:124445000-124456000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:124446400-124456200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:124446800-124455800	Weak transcription	Stomach Mucosa	stomach
27	chr12:124447600-124455600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:124448000-124456200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:124448000-124456200	Weak transcription	Lung	lung
30	chr12:124448400-124456000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:124449600-124456000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr12:124450200-124456000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr12:124450400-124456000	Weak transcription	Thymus	Thymus
34	chr12:124450400-124456200	Weak transcription	Ovary	ovary
35	chr12:124450600-124456000	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:124450600-124456000	Weak transcription	Fetal Stomach	stomach
37	chr12:124450600-124456200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:124451400-124455800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:124451400-124455800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr12:124451400-124456000	Weak transcription	Aorta	Aorta
41	chr12:124451400-124456200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:124451800-124456000	Weak transcription	Right Ventricle	heart
43	chr12:124451800-124456200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr12:124452000-124456000	Weak transcription	HSMMtube	muscle
45	chr12:124452200-124455800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:124452400-124455800	Weak transcription	Primary T cells from cord blood	blood
47	chr12:124452600-124455800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:124452800-124456000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:124453000-124455600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr12:124453200-124455600	Enhancers	Fetal Brain Male	brain

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