Variant report

Variant	rs17009492
Chromosome Location	chr2:30669138-30669139
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	chr2:30662772..30665115-chr2:30666031..30669960,4	K562	blood:
2	chr2:30369470..30372362-chr2:30669050..30670728,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119801	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17009527	1.00[AMR][1000 genomes]
rs17009547	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs17009671	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs17009896	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs2120343	1.00[AMR][1000 genomes]
rs60288309	1.00[AMR][1000 genomes]
rs61043924	1.00[AMR][1000 genomes]
rs7591314	1.00[AMR][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30661600-30669400	Weak transcription	Primary B cells from cord blood	blood
2	chr2:30663000-30669400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:30663200-30669400	Weak transcription	Thymus	Thymus
4	chr2:30663200-30669600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:30663600-30669400	Weak transcription	Primary T cells from cord blood	blood
6	chr2:30663800-30669400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:30666600-30669400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:30666600-30669400	Weak transcription	A549	lung
9	chr2:30666800-30669400	Weak transcription	K562	blood
10	chr2:30666800-30669800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:30667000-30669600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:30667600-30669200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr2:30667800-30669400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr2:30667800-30669400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:30667800-30669400	Weak transcription	Fetal Lung	lung
16	chr2:30667800-30669400	Weak transcription	NHDF-Ad	bronchial
17	chr2:30668000-30669400	Weak transcription	Fetal Intestine Large	intestine
18	chr2:30668200-30669400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:30668600-30669200	Weak transcription	Adipose Nuclei	Adipose
20	chr2:30668800-30669200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:30669000-30669200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:30669000-30669200	Enhancers	Fetal Heart	heart
23	chr2:30669000-30669400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr2:30669000-30669600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr2:30669000-30669600	Enhancers	Primary T helper cells PMA-I stimulated	--

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