Variant report

Variant	rs17116509
Chromosome Location	chr1:97626206-97626207
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1399287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1399288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17116155	1.00[AMR][1000 genomes]
rs17116476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17116531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17116539	1.00[AFR][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	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97564200-97632800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:97604400-97629000	Weak transcription	Primary B cells from cord blood	blood
3	chr1:97606200-97626600	Weak transcription	Ovary	ovary
4	chr1:97609200-97627800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:97611600-97639600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:97612200-97626600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:97613200-97629000	Weak transcription	Primary T cells from cord blood	blood
8	chr1:97620200-97658400	Weak transcription	Lung	lung
9	chr1:97624200-97626400	Weak transcription	Brain Germinal Matrix	brain
10	chr1:97624400-97629000	Weak transcription	Liver	Liver
11	chr1:97624600-97626400	Weak transcription	Brain Substantia Nigra	brain
12	chr1:97624600-97626600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:97624800-97626400	Weak transcription	Fetal Brain Male	brain
14	chr1:97624800-97627000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:97624800-97627000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:97625000-97627000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:97625400-97627200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:97626000-97626600	Enhancers	Brain Angular Gyrus	brain
19	chr1:97626000-97626600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr1:97626000-97627000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:97626000-97627000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr1:97626200-97626600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:97626200-97626800	Enhancers	Primary hematopoietic stem cells	blood
24	chr1:97626200-97627000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:97626200-97627000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr1:97626200-97627000	Enhancers	Fetal Brain Female	brain
27	chr1:97626200-97627000	Enhancers	Fetal Lung	lung

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