Variant report

Variant	rs12590010
Chromosome Location	chr14:35832433-35832434
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35832015..35837880-chr14:35867331..35875279,15	K562	blood:

Variant related genes	Relation type
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11156883	0.82[CHB][hapmap]
rs12590024	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12590197	0.80[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17103240	0.82[CHD][hapmap]
rs17103257	0.82[CHB][hapmap];0.83[MEX][hapmap]
rs58972402	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
3	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
4	esv1829386	chr14:35789740-35845927	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv518090	chr14:35802483-35840241	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv528501	chr14:35825436-35840678	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12590010	LOC392196	trans	lymphoblastoid	seeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35817200-35834400	Weak transcription	Esophagus	oesophagus
2	chr14:35821600-35843800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:35822400-35834400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:35822400-35834600	Weak transcription	Gastric	stomach
5	chr14:35822600-35836400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:35823400-35834200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:35825600-35834200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr14:35825600-35834200	Weak transcription	Fetal Thymus	thymus
9	chr14:35825600-35834400	Weak transcription	Left Ventricle	heart
10	chr14:35825600-35835200	Weak transcription	Aorta	Aorta
11	chr14:35825800-35833400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:35825800-35834200	Weak transcription	HMEC	breast
13	chr14:35826000-35834400	Weak transcription	Fetal Kidney	kidney
14	chr14:35826000-35834400	Weak transcription	Thymus	Thymus
15	chr14:35826200-35834400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:35826200-35834400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr14:35826600-35833400	Weak transcription	Fetal Intestine Small	intestine
18	chr14:35827400-35834200	Weak transcription	Hela-S3	cervix
19	chr14:35827600-35836200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:35830400-35834200	Weak transcription	NHEK	skin
21	chr14:35830600-35833400	Weak transcription	Placenta	Placenta
22	chr14:35830600-35834200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:35830600-35834400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:35830600-35836200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:35831600-35832600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:35831600-35832600	Enhancers	Ovary	ovary
27	chr14:35831600-35832800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:35831600-35832800	Enhancers	Brain Anterior Caudate	brain
29	chr14:35831600-35832800	Enhancers	Brain Hippocampus Middle	brain
30	chr14:35831600-35832800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr14:35831600-35832800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr14:35831600-35832800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr14:35831600-35832800	Enhancers	GM12878-XiMat	blood
34	chr14:35831600-35833000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:35831600-35833000	Enhancers	Adipose Nuclei	Adipose
36	chr14:35831600-35833000	Enhancers	Fetal Lung	lung
37	chr14:35831600-35833000	Enhancers	Fetal Muscle Trunk	muscle
38	chr14:35831600-35833000	Enhancers	Fetal Muscle Leg	muscle
39	chr14:35831600-35833000	Enhancers	Fetal Stomach	stomach
40	chr14:35831600-35833000	Enhancers	A549	lung
41	chr14:35831600-35833000	Enhancers	NH-A	brain
42	chr14:35831600-35833600	Enhancers	Lung	lung
43	chr14:35831600-35833600	Enhancers	Spleen	Spleen
44	chr14:35831600-35833600	Enhancers	HSMMtube	muscle
45	chr14:35831600-35833800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:35831600-35834400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:35831600-35834400	Enhancers	NHDF-Ad	bronchial
48	chr14:35831600-35837800	Enhancers	Osteobl	bone
49	chr14:35831600-35839000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr14:35831600-35839400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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