Variant report

Variant	rs2292900
Chromosome Location	chr9:97346979-97346980
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	chr9:97346870..97349447-chr9:97350199..97352748,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2280301	0.85[CEU][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs2280302	0.85[CEU][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761545	chr9:97025298-97356950	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1041195	chr9:97054795-97402378	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv1840205	chr9:97202200-97366400	Weak transcription Flanking Active TSS Enhancers Strong transcription 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	8 gene(s)	inside rSNPs	diseases
4	nsv893596	chr9:97321172-97598966	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv466436	chr9:97343620-97369149	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv614917	chr9:97343620-97369149	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2292900	EMILIN1	trans	lymphoblastoid	seeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97317200-97354000	Weak transcription	Gastric	stomach
2	chr9:97335000-97349600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:97340000-97349000	Weak transcription	Fetal Stomach	stomach
4	chr9:97342400-97347400	Strong transcription	Skeletal Muscle Female	skeletal muscle
5	chr9:97342800-97347600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr9:97343800-97348800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr9:97344400-97348800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:97346200-97347800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr9:97346200-97351600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:97346400-97347400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
11	chr9:97346600-97347200	Enhancers	Primary T cells fromperipheralblood	blood
12	chr9:97346600-97347400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr9:97346600-97347400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr9:97346600-97347400	Enhancers	Fetal Thymus	thymus
15	chr9:97346600-97347600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr9:97346600-97347600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr9:97346600-97347600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr9:97346600-97347800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr9:97346600-97347800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr9:97346600-97347800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr9:97346600-97348000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr9:97346800-97347600	Bivalent Enhancer	Primary T cells from cord blood	blood

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