Variant report

Variant	rs2284200
Chromosome Location	chr7:139589797-139589798
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139586200..139588625-chr7:139589676..139591691,2	K562	blood:
2	chr7:139588556..139591005-chr7:139669573..139671349,2	K562	blood:
3	chr7:139588216..139591101-chr7:139616007..139619980,4	K562	blood:
4	chr7:139588216..139590014-chr7:139618480..139620084,2	K562	blood:
5	chr7:139582012..139584735-chr7:139587318..139591550,5	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs2267691	0.91[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2267695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3779134	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs62490077	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1019001	chr7:139558216-139841268	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1029099	chr7:139558216-139869148	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv889244	chr7:139579177-139607500	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2284200	RAB19	cis	parietal	SCAN
rs2284200	OR6W1P	cis	cerebellum	SCAN
rs2284200	SLC13A4	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139567400-139598400	Weak transcription	Primary T cells from cord blood	blood
2	chr7:139571200-139596800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:139573800-139597600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:139577000-139593800	Weak transcription	Lung	lung
5	chr7:139577000-139612400	Weak transcription	Thymus	Thymus
6	chr7:139584800-139593800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:139585000-139593000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:139585000-139593800	Weak transcription	Gastric	stomach
9	chr7:139586800-139593800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:139588600-139593800	Weak transcription	Stomach Mucosa	stomach
11	chr7:139588800-139589800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:139588800-139589800	Enhancers	HMEC	breast
13	chr7:139588800-139589800	Enhancers	NHEK	skin
14	chr7:139588800-139590400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:139588800-139593800	Weak transcription	Spleen	Spleen
16	chr7:139588800-139593800	Weak transcription	K562	blood
17	chr7:139589000-139590600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr7:139589000-139590800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr7:139589000-139593800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr7:139589000-139597200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:139589200-139589800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:139589200-139592200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:139589200-139593400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:139589400-139589800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:139589400-139594200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:139589600-139593800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:139589600-139594000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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