Variant report

Variant	rs12324005
Chromosome Location	chr15:44904507-44904508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44903960..44906237-chr15:44954406..44956269,2	K562	blood:

Variant related genes	Relation type
ENSG00000104133	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10162700	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12324515	0.85[MKK][hapmap]
rs12595838	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12911238	1.00[AMR][1000 genomes]
rs13380093	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13380361	0.85[MKK][hapmap]
rs16966424	1.00[ASW][hapmap]
rs1720711	1.00[AMR][1000 genomes]
rs28566474	1.00[AMR][1000 genomes]
rs62024130	1.00[AMR][1000 genomes]
rs9806596	0.87[MKK][hapmap]
rs9972459	0.85[MKK][hapmap]

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	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases
2	nsv1516	chr15:44896162-44941091	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44842000-44951600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr15:44867400-44954600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:44870000-44928800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:44871200-44951200	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr15:44871400-44907600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:44871400-44932200	Strong transcription	Fetal Muscle Trunk	muscle
7	chr15:44871600-44917800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr15:44871800-44924400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr15:44871800-44925000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:44872000-44935600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:44872200-44923200	Strong transcription	Fetal Intestine Large	intestine
12	chr15:44872400-44934400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr15:44873000-44913400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr15:44874800-44928600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:44881800-44934600	Strong transcription	Liver	Liver
16	chr15:44882000-44908200	Strong transcription	Duodenum Mucosa	Duodenum
17	chr15:44882800-44904600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr15:44884000-44910000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:44886200-44917600	Strong transcription	Primary B cells from peripheral blood	blood
20	chr15:44888600-44906000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:44889200-44909200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:44889400-44925600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:44890000-44905000	Weak transcription	Pancreas	Pancrea
24	chr15:44890000-44954800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr15:44891200-44905000	Weak transcription	Fetal Kidney	kidney
26	chr15:44891800-44930200	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr15:44892200-44929400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr15:44892400-44929400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:44892600-44925200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:44893800-44925400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr15:44894000-44909800	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr15:44894000-44935600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr15:44894800-44908000	Strong transcription	Primary B cells from cord blood	blood
34	chr15:44895000-44908000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr15:44895000-44908200	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr15:44895200-44909600	Strong transcription	Fetal Lung	lung
37	chr15:44896400-44924400	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr15:44896600-44907600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr15:44897200-44939400	Weak transcription	Stomach Mucosa	stomach
40	chr15:44898200-44910800	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr15:44898800-44910200	Strong transcription	Fetal Thymus	thymus
42	chr15:44899400-44905200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr15:44899400-44906800	Strong transcription	Fetal Stomach	stomach
44	chr15:44899400-44914000	Strong transcription	Fetal Muscle Leg	muscle
45	chr15:44900600-44905000	Weak transcription	Aorta	Aorta
46	chr15:44900600-44905000	Weak transcription	Colon Smooth Muscle	Colon
47	chr15:44900600-44905000	Weak transcription	Right Ventricle	heart
48	chr15:44900600-44905200	Weak transcription	A549	lung
49	chr15:44900600-44943400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr15:44900800-44904600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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