Variant report

Variant	rs2205895
Chromosome Location	chr1:169572645-169572646
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs2223303	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2420378	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3766126	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3917750	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3917751	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3917777	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats 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	56 gene(s)	inside rSNPs	diseases
2	nsv872538	chr1:169567516-169576207	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2205895	F5	cis	Whole Blood	GTEx
rs2205895	METTL13	cis	parietal	SCAN
rs2205895	F5	cis	multi-tissue	Pritchard
rs2205895	ATP1B1	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169565400-169581400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:169569800-169576400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr1:169570000-169574400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr1:169570200-169573200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr1:169570200-169573800	Enhancers	Dnd41	blood
6	chr1:169570200-169575200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:169570200-169575400	Enhancers	Primary B cells from peripheral blood	blood
8	chr1:169570200-169576400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr1:169570400-169573800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr1:169570400-169573800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:169570400-169574000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:169570400-169574200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr1:169570400-169574200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:169570400-169574400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:169570400-169576600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr1:169570400-169585400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr1:169570600-169573000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:169570600-169573200	Enhancers	Primary hematopoietic stem cells	blood
19	chr1:169570600-169573800	Enhancers	Primary B cells from cord blood	blood
20	chr1:169570800-169572800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:169571600-169573600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:169571600-169573800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr1:169571600-169573800	Weak transcription	GM12878-XiMat	blood
24	chr1:169571800-169573200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:169572200-169573000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr1:169572200-169573200	Enhancers	Fetal Thymus	thymus
27	chr1:169572200-169573800	Enhancers	Primary T cells from cord blood	blood
28	chr1:169572400-169574000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:169572600-169572800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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