Variant report

Variant	rs17440989
Chromosome Location	chr1:67211323-67211324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1032634	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1032635	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11810644	1.00[CHB][hapmap]
rs12070427	1.00[CHB][hapmap]
rs1280280	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1280310	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17129327	1.00[CHB][hapmap]
rs17129329	1.00[CHB][hapmap]
rs17129365	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs17492182	0.93[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2146904	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2483704	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2483705	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2916	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs481681	1.00[ASN][1000 genomes]
rs485521	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs485543	1.00[ASN][1000 genomes]
rs492109	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs499263	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs502690	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs515944	1.00[ASN][1000 genomes]
rs523132	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs523188	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs523956	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs524114	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs532564	1.00[ASN][1000 genomes]
rs536410	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs536527	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs539014	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs544258	1.00[ASN][1000 genomes]
rs602513	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs603750	1.00[CHB][hapmap]
rs618093	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs628655	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs659291	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs665319	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6668603	1.00[ASN][1000 genomes]
rs672230	1.00[CHB][hapmap]
rs688630	1.00[ASN][1000 genomes]
rs693272	1.00[ASN][1000 genomes]
rs72669501	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72671621	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72922021	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515848	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7554101	1.00[CHB][hapmap];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	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv830093	chr1:67173594-67348264	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67188600-67217400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:67192000-67217200	Weak transcription	Brain Angular Gyrus	brain
3	chr1:67192000-67217400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:67196600-67212800	Weak transcription	Fetal Brain Female	brain
5	chr1:67197000-67217600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:67205400-67217600	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:67205600-67211600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:67205600-67217600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:67205800-67211800	Weak transcription	NHDF-Ad	bronchial
10	chr1:67205800-67217000	Weak transcription	NHLF	lung
11	chr1:67205800-67217400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:67205800-67217600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:67205800-67217800	Weak transcription	Aorta	Aorta
14	chr1:67206000-67215600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:67207400-67211800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:67207400-67217400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:67207400-67217400	Weak transcription	Brain Anterior Caudate	brain
18	chr1:67208000-67212000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:67208000-67212000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:67208600-67212200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:67210400-67212400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:67210400-67214000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:67211000-67212600	Enhancers	Primary hematopoietic stem cells	blood

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