Variant report

Variant	rs1385502
Chromosome Location	chr8:119962299-119962300
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11573823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573846	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573898	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573909	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11573916	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11573926	1.00[ASN][1000 genomes]
rs11573927	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11573935	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11573938	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs11573953	1.00[ASN][1000 genomes]
rs13270766	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13270860	1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13276474	1.00[CHB][hapmap]
rs13282510	1.00[CHB][hapmap]
rs1385506	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1485289	0.85[YRI][hapmap]
rs1564857	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1564858	1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17179200	1.00[CHB][hapmap]
rs2073618	0.85[YRI][hapmap]
rs2228568	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35767548	1.00[ASN][1000 genomes]
rs35968003	0.90[EUR][1000 genomes]
rs4460404	1.00[CHB][hapmap]
rs4537331	1.00[CHB][hapmap]
rs6469783	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6469784	1.00[ASN][1000 genomes]
rs6995365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71532413	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7464496	0.85[YRI][hapmap]
rs7828837	1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7837001	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7844539	1.00[ASN][1000 genomes]
rs7845642	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119953400-119963600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:119954200-119962600	Weak transcription	Fetal Intestine Large	intestine
3	chr8:119960400-119962600	Active TSS	Fetal Kidney	kidney
4	chr8:119960600-119963800	Active TSS	Right Ventricle	heart
5	chr8:119960600-119964800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:119960600-119965000	Active TSS	Aorta	Aorta
7	chr8:119960800-119962400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:119960800-119963600	Weak transcription	Brain Anterior Caudate	brain
9	chr8:119960800-119963600	Weak transcription	Fetal Brain Male	brain
10	chr8:119961000-119963600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:119961000-119963600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:119961000-119963800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:119961000-119965400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:119961200-119963400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:119961200-119963600	Weak transcription	Fetal Brain Female	brain
16	chr8:119961200-119964800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:119961400-119962600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:119961400-119963200	Weak transcription	Adipose Nuclei	Adipose
19	chr8:119961600-119962400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:119961600-119962600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:119961600-119963200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:119961600-119963600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:119961600-119963800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:119961600-119963800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:119961600-119964600	Active TSS	HSMMtube	muscle
26	chr8:119961600-119965200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:119961800-119962400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:119961800-119963000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr8:119961800-119963600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:119961800-119963600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:119962000-119963000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:119962000-119963200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:119962000-119964600	Active TSS	NHLF	lung
34	chr8:119962200-119964600	Active TSS	Osteobl	bone
35	chr8:119962200-119964800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:119962200-119964800	Active TSS	NHDF-Ad	bronchial
37	chr8:119962200-119965400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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