Variant report

Variant	rs4144140
Chromosome Location	chr13:38443040-38443041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12431204	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1337601	0.84[ASN][1000 genomes]
rs1538145	0.92[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1538146	0.86[CHD][hapmap];0.83[ASN][1000 genomes]
rs1538148	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1924379	0.86[CHD][hapmap];0.84[ASN][1000 genomes]
rs2323637	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3812837	0.82[CHD][hapmap];0.81[ASN][1000 genomes]
rs942345	0.81[ASN][1000 genomes]
rs9548085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9548086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9548087	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9548090	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9566272	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9576388	0.86[CHD][hapmap]
rs9576389	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[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	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38440000-38444600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr13:38440400-38445000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:38440600-38445200	Active TSS	Fetal Brain Female	brain
4	chr13:38441000-38444600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr13:38441000-38444600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr13:38441400-38443600	Active TSS	Stomach Smooth Muscle	stomach
7	chr13:38441400-38444600	Active TSS	NHDF-Ad	bronchial
8	chr13:38441600-38443600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:38441600-38444600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:38441600-38444600	Active TSS	Osteobl	bone
11	chr13:38442000-38444600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:38442000-38444800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr13:38442200-38444200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:38442200-38444600	Active TSS	NH-A	brain
15	chr13:38442200-38445200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr13:38442400-38443400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr13:38442400-38444200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:38442400-38444400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr13:38442400-38445200	Active TSS	Ovary	ovary
20	chr13:38442800-38443200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
21	chr13:38442800-38443200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
22	chr13:38442800-38443200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr13:38442800-38443200	Active TSS	Fetal Brain Male	brain
24	chr13:38442800-38443400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr13:38442800-38443400	Active TSS	Brain Cingulate Gyrus	brain
26	chr13:38442800-38443400	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr13:38442800-38443600	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr13:38442800-38444000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr13:38442800-38444000	Bivalent/Poised TSS	NHLF	lung
30	chr13:38442800-38444200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr13:38442800-38444200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:38442800-38444400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr13:38442800-38444400	Active TSS	Brain Anterior Caudate	brain
34	chr13:38442800-38444400	Active TSS	Fetal Kidney	kidney
35	chr13:38442800-38444400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
36	chr13:38442800-38444600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr13:38442800-38444600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:38442800-38444600	Active TSS	H9 Cell Line	embryonic stem cell
39	chr13:38442800-38444600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr13:38442800-38444800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr13:38442800-38444800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
42	chr13:38442800-38444800	Active TSS	Brain Substantia Nigra	brain
43	chr13:38442800-38444800	Active TSS	Colon Smooth Muscle	Colon
44	chr13:38442800-38444800	Active TSS	Right Ventricle	heart
45	chr13:38442800-38445000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr13:38442800-38445200	Active TSS	Right Atrium	heart
47	chr13:38442800-38445400	Active TSS	Brain Angular Gyrus	brain
48	chr13:38443000-38443200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr13:38443000-38443200	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr13:38443000-38443200	Flanking Bivalent TSS/Enh	Liver	Liver

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