Variant report

Variant	rs2378866
Chromosome Location	chr14:31893187-31893188
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	chr14:31888444..31892446-chr14:31892724..31897271,5	K562	blood:

Variant related genes	Relation type
ENSG00000250365	Chromatin interaction
ENSG00000129493	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10137265	0.84[YRI][hapmap];0.82[AFR][1000 genomes]
rs10872852	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11626263	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12434943	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12587817	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12878225	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2378862	0.92[YRI][hapmap];0.93[AFR][1000 genomes]
rs4981846	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs5018104	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58281147	0.83[ASN][1000 genomes]
rs61994162	0.93[AFR][1000 genomes]
rs6571421	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7146522	1.00[ASN][1000 genomes]
rs7151305	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8005617	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8010198	1.00[ASN][1000 genomes]
rs8017643	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv931935	chr14:31871658-32117666	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1050774	chr14:31879687-32102906	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv934110	chr14:31887749-32109529	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv934206	chr14:31887749-32257097	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31890200-31895000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:31890200-31896000	Weak transcription	Lung	lung
3	chr14:31890200-31902200	Weak transcription	Aorta	Aorta
4	chr14:31890200-31904200	Weak transcription	Right Atrium	heart
5	chr14:31890400-31895200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:31890400-31895600	Weak transcription	Adipose Nuclei	Adipose
7	chr14:31890400-31897600	Weak transcription	Fetal Intestine Small	intestine
8	chr14:31890400-31898200	Weak transcription	Brain Germinal Matrix	brain
9	chr14:31890400-31899600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:31890400-31899800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:31890400-31900800	Weak transcription	Primary B cells from cord blood	blood
12	chr14:31890400-31900800	Weak transcription	Fetal Brain Female	brain
13	chr14:31890400-31900800	Weak transcription	Fetal Lung	lung
14	chr14:31890400-31900800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr14:31890400-31901000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:31890400-31901000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:31890400-31907400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr14:31890400-31910400	Weak transcription	Placenta	Placenta
19	chr14:31890400-31910400	Weak transcription	Ovary	ovary
20	chr14:31890400-31917400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:31890400-31921200	Weak transcription	Psoas Muscle	Psoas
22	chr14:31890400-31925800	Weak transcription	Right Ventricle	heart
23	chr14:31890600-31894800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:31890600-31900800	Weak transcription	Primary T cells from cord blood	blood
25	chr14:31890600-31900800	Weak transcription	Brain Substantia Nigra	brain
26	chr14:31890600-31901000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:31890600-31904400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr14:31890600-31910600	Weak transcription	Fetal Heart	heart
29	chr14:31890600-31919000	Weak transcription	Brain Anterior Caudate	brain
30	chr14:31890600-31919200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr14:31890600-31920600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr14:31890600-31922400	Weak transcription	Brain Angular Gyrus	brain
33	chr14:31890800-31895000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:31890800-31899600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:31890800-31901000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr14:31890800-31920800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:31890800-31925200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr14:31891000-31900400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr14:31891200-31900600	Weak transcription	Brain Hippocampus Middle	brain
40	chr14:31892400-31894600	Weak transcription	K562	blood
41	chr14:31892800-31895200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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