Variant report

Variant	rs12423352
Chromosome Location	chr12:51584597-51584598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51583245..51586471-chr12:51611180..51613523,3	K562	blood:
2	chr12:51582618..51587161-chr12:51588342..51592612,4	K562	blood:
3	chr12:51157422..51159290-chr12:51583634..51585267,2	MCF-7	breast:
4	chr12:51583870..51586073-chr12:51587645..51590078,2	MCF-7	breast:
5	chr12:51573087..51575284-chr12:51583237..51585121,2	K562	blood:

Variant related genes	Relation type
ENSG00000184271	Chromatin interaction
ENSG00000123268	Chromatin interaction

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

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

rs_ID	r²[population]
rs12422846	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12427003	0.81[ASN][1000 genomes]
rs57821022	0.80[ASN][1000 genomes]
rs57937070	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51567400-51610600	Weak transcription	Right Atrium	heart
2	chr12:51578000-51587600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:51578200-51586000	Weak transcription	Fetal Heart	heart
4	chr12:51578200-51596800	Weak transcription	Fetal Lung	lung
5	chr12:51580400-51592000	Weak transcription	Gastric	stomach
6	chr12:51580600-51587800	Weak transcription	Placenta	Placenta
7	chr12:51580600-51595800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:51580800-51596800	Weak transcription	Primary T cells from cord blood	blood
9	chr12:51581000-51593200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:51581400-51584800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:51581400-51600400	Weak transcription	Psoas Muscle	Psoas
12	chr12:51581400-51610200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:51581600-51585800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:51581600-51586400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:51581600-51587200	Strong transcription	Fetal Brain Female	brain
16	chr12:51581800-51592000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:51581800-51596600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:51581800-51610600	Weak transcription	Colonic Mucosa	Colon
19	chr12:51582000-51586200	Strong transcription	Brain Anterior Caudate	brain
20	chr12:51582000-51592600	Weak transcription	Fetal Intestine Large	intestine
21	chr12:51582000-51597000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:51582200-51585200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:51582200-51585800	Weak transcription	Fetal Kidney	kidney
24	chr12:51582200-51586400	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:51582200-51587400	Strong transcription	Brain Germinal Matrix	brain
26	chr12:51582200-51593000	Strong transcription	Brain Hippocampus Middle	brain
27	chr12:51582200-51594000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:51582200-51608000	Weak transcription	NHLF	lung
29	chr12:51582400-51585000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:51582400-51585400	Weak transcription	Esophagus	oesophagus
31	chr12:51582400-51587000	Strong transcription	Brain Substantia Nigra	brain
32	chr12:51582400-51593000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:51582400-51594800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:51582400-51600000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:51582400-51600600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:51582600-51587200	Strong transcription	Stomach Smooth Muscle	stomach
37	chr12:51582600-51590600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:51582800-51586400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr12:51583000-51584600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:51583000-51584600	Genic enhancers	Fetal Muscle Leg	muscle
41	chr12:51583000-51586000	Strong transcription	Brain Cingulate Gyrus	brain
42	chr12:51583000-51586400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:51583000-51586400	Strong transcription	Spleen	Spleen
44	chr12:51583000-51587000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:51583000-51587200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:51583200-51586400	Genic enhancers	Fetal Muscle Trunk	muscle
47	chr12:51583400-51584600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:51583400-51584800	Strong transcription	Adipose Nuclei	Adipose
49	chr12:51583400-51585400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:51583400-51585800	Strong transcription	Rectal Smooth Muscle	rectum

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