Variant report

Variant	rs2086326
Chromosome Location	chr14:56695317-56695318
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10150333	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs11158082	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[ASN][1000 genomes]
rs1117310	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.95[ASN][1000 genomes]
rs1382973	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs173352	0.83[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.86[MEX][hapmap]
rs17832621	0.82[TSI][hapmap]
rs2054491	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2054492	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs242401	0.82[TSI][hapmap]
rs242405	0.82[TSI][hapmap]
rs242411	0.82[TSI][hapmap]
rs242578	0.83[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs242583	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs242590	0.84[AMR][1000 genomes]
rs242591	0.84[AMR][1000 genomes]
rs3783675	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3844020	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3912201	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs4143949	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7140444	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7145330	0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7151741	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs899604	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1044886	chr14:56689682-56834648	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv542104	chr14:56689682-56834648	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2086326	MAPK1IP1L	cis	cerebellum	SCAN
rs2086326	GCH1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56682200-56699200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr14:56686800-56702000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:56688000-56707800	Weak transcription	Spleen	Spleen
4	chr14:56688800-56695400	Weak transcription	Fetal Thymus	thymus
5	chr14:56689600-56695400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:56689600-56699200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr14:56689600-56710000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:56689800-56715800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr14:56691800-56696000	Strong transcription	Thymus	Thymus
10	chr14:56692000-56696200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:56692400-56703000	Weak transcription	Aorta	Aorta
12	chr14:56692400-56710000	Weak transcription	Fetal Stomach	stomach
13	chr14:56692600-56701400	Weak transcription	Ovary	ovary
14	chr14:56692600-56703200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr14:56692800-56699200	Weak transcription	Stomach Mucosa	stomach
16	chr14:56693000-56704000	Weak transcription	Primary T cells from cord blood	blood
17	chr14:56693200-56703000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr14:56693200-56724400	Weak transcription	Gastric	stomach
19	chr14:56694000-56701600	Weak transcription	Pancreas	Pancrea
20	chr14:56694000-56723000	Weak transcription	Lung	lung
21	chr14:56694200-56695800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
22	chr14:56694800-56696200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:56695000-56696800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
24	chr14:56695200-56696000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr14:56695200-56702200	Weak transcription	Dnd41	blood

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