Variant report

Variant	rs4142372
Chromosome Location	chr13:40152431-40152432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1160321	0.81[CEU][hapmap]
rs2324342	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2324343	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2324344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2324345	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2324346	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2324347	0.81[CEU][hapmap]
rs3858867	0.81[CEU][hapmap]
rs4456374	0.81[CEU][hapmap]
rs4520717	0.81[JPT][hapmap]
rs4567589	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs5010893	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7319551	1.00[CEU][hapmap]
rs7333587	0.81[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes]
rs927515	0.81[CEU][hapmap]
rs9315705	0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9315709	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548835	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs9566457	0.81[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes]
rs9566462	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs9576869	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40129000-40152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:40138800-40152800	Weak transcription	Aorta	Aorta
3	chr13:40139200-40158000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:40140000-40169400	Weak transcription	Fetal Stomach	stomach
5	chr13:40140400-40157800	Weak transcription	Adipose Nuclei	Adipose
6	chr13:40140800-40152800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr13:40140800-40165400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr13:40142000-40156200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:40142000-40156200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr13:40142000-40169400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:40142000-40169400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:40142200-40152600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr13:40143000-40158200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:40143200-40157800	Weak transcription	NHDF-Ad	bronchial
15	chr13:40143200-40161800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:40143200-40170800	Weak transcription	Osteobl	bone
17	chr13:40145600-40153200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:40146000-40152800	Weak transcription	NHLF	lung
19	chr13:40146000-40155400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr13:40146000-40171800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr13:40146200-40161400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:40146400-40155200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr13:40147000-40153200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr13:40147000-40162200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:40149200-40153000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:40149400-40152600	Weak transcription	Right Ventricle	heart
27	chr13:40149800-40153000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr13:40150000-40152600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr13:40150000-40152600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr13:40150000-40172600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr13:40150200-40152800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr13:40150200-40152800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr13:40150400-40152600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr13:40150400-40152800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr13:40150400-40170600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr13:40150600-40171800	Weak transcription	HSMM	muscle
37	chr13:40151200-40153600	Enhancers	Left Ventricle	heart
38	chr13:40151400-40153600	Enhancers	Fetal Muscle Leg	muscle
39	chr13:40151400-40153600	Enhancers	Right Atrium	heart
40	chr13:40151600-40152800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr13:40151800-40153000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr13:40151800-40153200	Enhancers	Fetal Lung	lung
43	chr13:40151800-40153600	Enhancers	Psoas Muscle	Psoas
44	chr13:40152000-40152800	Weak transcription	Lung	lung
45	chr13:40152200-40152600	Weak transcription	Ovary	ovary
46	chr13:40152200-40153200	Flanking Active TSS	Fetal Heart	heart
47	chr13:40152200-40153400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:40152200-40153600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr13:40152200-40153600	Enhancers	H1 Cell Line	embryonic stem cell
50	chr13:40152200-40153600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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