Variant report

Variant	rs2007577
Chromosome Location	chr13:38191143-38191144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1006416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1028728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11147662	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11618138	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11619443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11843893	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17197908	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17258466	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1924298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2209230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28373781	0.81[ASN][1000 genomes]
rs3934220	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4432141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56361602	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61957468	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61957469	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61957470	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61957472	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61957483	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73184517	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7330679	1.00[JPT][hapmap]
rs7333205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8001709	1.00[CHB][hapmap]
rs9532090	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9532093	1.00[JPT][hapmap]
rs9547953	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9547958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9547964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9547965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9547968	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9547974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9547976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9547977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9547985	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9547986	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9547991	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9547992	0.81[ASN][1000 genomes]
rs9547994	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9547996	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9547997	1.00[JPT][hapmap]
rs9547998	1.00[JPT][hapmap]
rs9547999	1.00[JPT][hapmap]
rs9548000	1.00[JPT][hapmap]
rs9548003	1.00[JPT][hapmap]

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	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1038850	chr13:37820489-38209571	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv34109	chr13:37843819-38276391	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1045716	chr13:37952062-38394595	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv832583	chr13:38030752-38202000	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv430553	chr13:38184100-38203200	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38189200-38192400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr13:38189400-38191600	Enhancers	HSMM	muscle
3	chr13:38189400-38191600	Enhancers	Osteobl	bone
4	chr13:38189400-38192800	Enhancers	NH-A	brain
5	chr13:38189600-38193000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr13:38189800-38191400	Weak transcription	HMEC	breast
7	chr13:38189800-38193200	Enhancers	NHDF-Ad	bronchial
8	chr13:38190200-38192000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:38190200-38192200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:38190400-38193200	Enhancers	Hela-S3	cervix
11	chr13:38190600-38191600	Weak transcription	Fetal Heart	heart
12	chr13:38190600-38191600	Weak transcription	A549	lung
13	chr13:38190600-38193000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:38190800-38191600	Enhancers	NHEK	skin
15	chr13:38190800-38191800	Enhancers	Placenta	Placenta
16	chr13:38190800-38192000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr13:38190800-38192800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:38190800-38193600	Enhancers	HSMMtube	muscle
19	chr13:38190800-38193600	Enhancers	NHLF	lung
20	chr13:38191000-38191200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:38191000-38191400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr13:38191000-38191600	Enhancers	Ovary	ovary
23	chr13:38191000-38191800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr13:38191000-38191800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:38191000-38191800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr13:38191000-38191800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr13:38191000-38192400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr13:38191000-38192600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr13:38191000-38193000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr13:38191000-38193000	Enhancers	HUVEC	blood vessel
31	chr13:38191000-38193400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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