Variant report

Variant	rs73412248
Chromosome Location	chr12:123950153-123950154
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	chr12:123942949..123945032-chr12:123947880..123951007,3	MCF-7	breast:
2	chr12:123949352..123951690-chr12:123952165..123954537,2	MCF-7	breast:
3	chr12:123948940..123951509-chr12:124017235..124019368,2	MCF-7	breast:
4	chr12:123941593..123946153-chr12:123949136..123952652,8	K562	blood:
5	chr12:123940979..123946241-chr12:123948686..123953480,7	MCF-7	breast:
6	chr12:123941485..123944968-chr12:123948238..123952652,6	K562	blood:
7	chr12:123947470..123950375-chr12:124015636..124018854,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188026	Chromatin interaction
ENSG00000184209	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs58447442	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1822004	chr12:123919287-124013451	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123943600-123955800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:123943800-123956000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:123943800-123956400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:123943800-123958800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:123943800-123959600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:123943800-123959600	Weak transcription	Psoas Muscle	Psoas
7	chr12:123943800-123961200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:123944000-123950200	Weak transcription	HSMMtube	muscle
9	chr12:123944400-123955800	Weak transcription	NHEK	skin
10	chr12:123944600-123956400	Weak transcription	Stomach Mucosa	stomach
11	chr12:123944600-123995600	Weak transcription	Hela-S3	cervix
12	chr12:123944600-124012200	Strong transcription	Fetal Stomach	stomach
13	chr12:123944800-123964600	Weak transcription	Small Intestine	intestine
14	chr12:123945200-123959200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:123945800-123965600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:123946000-123965600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:123946200-123957600	Strong transcription	Fetal Thymus	thymus
18	chr12:123946200-123957800	Strong transcription	Fetal Muscle Leg	muscle
19	chr12:123946400-123952600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:123946400-123953200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:123946800-123959200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:123947000-123952200	Weak transcription	Brain Substantia Nigra	brain
23	chr12:123947200-123958600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:123947400-123951000	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:123947600-123950400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:123947600-123950600	Strong transcription	Brain Hippocampus Middle	brain
27	chr12:123947600-123951200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:123947600-123951200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:123947600-123951400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr12:123947600-123953600	Strong transcription	Liver	Liver
31	chr12:123947600-123971800	Strong transcription	Fetal Intestine Small	intestine
32	chr12:123947800-123950400	Weak transcription	Fetal Brain Male	brain
33	chr12:123947800-123955800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:123948000-123952400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr12:123948200-123962800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr12:123948600-123950800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:123948600-123951600	Weak transcription	Primary B cells from cord blood	blood
38	chr12:123948600-123951800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:123948600-123952200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:123948800-123951000	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:123949000-123950400	Strong transcription	Fetal Lung	lung
42	chr12:123949000-123950600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
43	chr12:123949000-123950800	Strong transcription	K562	blood
44	chr12:123949000-123951000	Strong transcription	Primary hematopoietic stem cells	blood
45	chr12:123949000-123951000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr12:123949000-123951000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:123949000-123951000	Strong transcription	Brain Germinal Matrix	brain
48	chr12:123949000-123951000	Strong transcription	Osteobl	bone
49	chr12:123949000-123951200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:123949000-123951200	Strong transcription	Placenta	Placenta

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