Variant report

Variant	rs2900223
Chromosome Location	chr9:102596321-102596322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:102589376..102591940-chr9:102594219..102596621,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1408471	0.83[EUR][1000 genomes]
rs1526267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4743365	0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7034165	0.83[ASW][hapmap];0.91[MKK][hapmap];0.91[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529618	chr9:102227922-103044018	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv528025	chr9:102540386-102613672	Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv831668	chr9:102568169-102747293	Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2900223	NANS	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102586800-102609200	Weak transcription	Aorta	Aorta
2	chr9:102587000-102613800	Weak transcription	Hela-S3	cervix
3	chr9:102587400-102608200	Weak transcription	Psoas Muscle	Psoas
4	chr9:102590400-102609600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr9:102590600-102611200	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr9:102591200-102618400	Weak transcription	Brain Angular Gyrus	brain
7	chr9:102591400-102606800	Weak transcription	Gastric	stomach
8	chr9:102591400-102616200	Weak transcription	Lung	lung
9	chr9:102591600-102607200	Weak transcription	NHLF	lung
10	chr9:102592200-102609400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr9:102592200-102618400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr9:102592400-102608200	Weak transcription	Colon Smooth Muscle	Colon
13	chr9:102592600-102609200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr9:102594200-102613000	Weak transcription	Primary T cells from cord blood	blood
15	chr9:102594200-102622000	Weak transcription	Brain Germinal Matrix	brain
16	chr9:102594400-102598800	Weak transcription	Adipose Nuclei	Adipose
17	chr9:102595000-102597400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:102595400-102596800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:102595400-102597000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr9:102595400-102597200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:102595400-102597400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:102595400-102597600	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr9:102595400-102597800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:102595400-102597800	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr9:102595400-102628200	Weak transcription	Fetal Brain Female	brain
26	chr9:102595600-102596400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:102595600-102596400	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr9:102595600-102597200	Strong transcription	Right Ventricle	heart
29	chr9:102595600-102597400	Strong transcription	Left Ventricle	heart
30	chr9:102595600-102598000	Strong transcription	Stomach Smooth Muscle	stomach
31	chr9:102595800-102596400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:102596200-102596400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr9:102596200-102596400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr9:102596200-102596600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:102596200-102596800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:102596200-102616400	Weak transcription	Fetal Brain Male	brain
37	chr9:102596200-102620400	Weak transcription	Fetal Heart	heart

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