Variant report

Variant	rs9448733
Chromosome Location	chr6:80214751-80214752
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	chr6:80211479..80218062-chr6:80218996..80224127,6	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11753205	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11756302	0.88[AMR][1000 genomes]
rs11756486	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11757993	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11758791	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16879583	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16890821	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16890842	0.85[AMR][1000 genomes]
rs16890846	0.85[AMR][1000 genomes]
rs1857722	0.81[AMR][1000 genomes]
rs2047897	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2069304	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2629469	0.83[ASN][1000 genomes]
rs34068461	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35548514	0.84[ASN][1000 genomes]
rs4706790	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4706792	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55697211	0.85[AMR][1000 genomes]
rs55951062	0.85[AMR][1000 genomes]
rs56311322	0.84[AMR][1000 genomes]
rs72899927	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72899942	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72899955	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72899963	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72901812	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72901839	0.85[AMR][1000 genomes]
rs7742272	0.80[AFR][1000 genomes]
rs7743617	0.88[AMR][1000 genomes]
rs7755562	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7771276	0.85[AMR][1000 genomes]
rs7774418	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7775536	0.86[AMR][1000 genomes]
rs9294147	0.92[AFR][1000 genomes]
rs9443675	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9448731	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9448738	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv830707	chr6:80134625-80325171	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1029259	chr6:80142754-80340332	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv886303	chr6:80147225-80252423	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr6:80171200-80220000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:80171600-80226600	Weak transcription	Brain Hippocampus Middle	brain
3	chr6:80179800-80217200	Weak transcription	Aorta	Aorta
4	chr6:80179800-80235000	Weak transcription	HSMMtube	muscle
5	chr6:80180400-80215400	Weak transcription	Fetal Lung	lung
6	chr6:80181400-80222000	Weak transcription	Left Ventricle	heart
7	chr6:80189600-80216600	Weak transcription	Fetal Brain Female	brain
8	chr6:80189600-80225200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:80190200-80234400	Weak transcription	Fetal Intestine Large	intestine
10	chr6:80192400-80223200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:80192400-80226800	Weak transcription	Brain Anterior Caudate	brain
12	chr6:80194600-80217200	Weak transcription	Brain Germinal Matrix	brain
13	chr6:80194800-80225400	Weak transcription	Colon Smooth Muscle	Colon
14	chr6:80195400-80235000	Weak transcription	Fetal Muscle Leg	muscle
15	chr6:80195800-80218000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:80197400-80224200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr6:80197600-80220400	Weak transcription	Fetal Kidney	kidney
18	chr6:80198000-80221400	Weak transcription	HSMM	muscle
19	chr6:80198200-80217200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:80198400-80235000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:80199000-80235000	Weak transcription	Adipose Nuclei	Adipose
22	chr6:80207600-80246000	Weak transcription	Ovary	ovary
23	chr6:80209000-80222400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:80209000-80235000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:80209200-80221000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:80210400-80222800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:80210600-80220400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr6:80210800-80221600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:80212400-80232600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr6:80213000-80224400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr6:80213600-80217200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:80213800-80214800	Enhancers	HepG2	liver
33	chr6:80214400-80216800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr6:80214400-80220600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:80214400-80235000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr6:80214600-80218200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr6:80214600-80246000	Weak transcription	Fetal Stomach	stomach

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