Variant report

Variant	rs2158526
Chromosome Location	chr14:71184652-71184653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10129307	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1034769	0.90[CEU][hapmap];0.90[GIH][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap]
rs12589737	0.90[CEU][hapmap]
rs12879569	1.00[ASW][hapmap];0.94[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.84[MEX][hapmap];0.80[MKK][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1476610	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2107666	0.90[CEU][hapmap]
rs2158527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2332458	0.90[CEU][hapmap]
rs3814872	0.87[ASW][hapmap];0.90[CEU][hapmap];0.90[GIH][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap]
rs4141095	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4899367	0.89[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs4899368	0.87[ASW][hapmap];0.90[CEU][hapmap];0.90[GIH][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4902852	0.87[ASW][hapmap];0.90[CEU][hapmap];0.90[GIH][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap]
rs6573978	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.83[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7140653	0.90[CEU][hapmap]
rs7152246	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7152516	0.90[CEU][hapmap]
rs8006424	0.89[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs8011047	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2158526	FAM71D	cis	cerebellum	SCAN
rs2158526	MAP3K9	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71174600-71185600	Weak transcription	Lung	lung
2	chr14:71177200-71185200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:71177200-71195600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:71178600-71189800	Weak transcription	Fetal Brain Female	brain
5	chr14:71179800-71193200	Weak transcription	Right Atrium	heart
6	chr14:71180600-71193800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:71180600-71196800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:71180600-71196800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:71180800-71185200	Weak transcription	Stomach Mucosa	stomach
10	chr14:71180800-71193600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:71180800-71196000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:71180800-71200800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:71181000-71188600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr14:71181200-71186000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr14:71181200-71188400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:71181200-71195800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:71182400-71188200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:71183000-71186000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:71183200-71185800	Enhancers	Duodenum Mucosa	Duodenum
20	chr14:71183200-71186000	Enhancers	Placenta	Placenta
21	chr14:71183200-71186000	Enhancers	A549	lung
22	chr14:71183200-71186000	Enhancers	NHEK	skin
23	chr14:71183200-71186200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:71183200-71190200	Enhancers	Fetal Intestine Small	intestine
25	chr14:71183200-71192200	Enhancers	Fetal Intestine Large	intestine
26	chr14:71183400-71185200	Enhancers	Hela-S3	cervix
27	chr14:71183600-71186000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr14:71183600-71186000	Enhancers	HMEC	breast
29	chr14:71183800-71185200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr14:71183800-71185600	Weak transcription	HSMMtube	muscle
31	chr14:71183800-71186000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:71183800-71189600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:71184000-71186000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:71184000-71188200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr14:71184200-71186000	Enhancers	Gastric	stomach
36	chr14:71184200-71186000	Enhancers	Pancreas	Pancrea
37	chr14:71184400-71186600	Enhancers	Esophagus	oesophagus
38	chr14:71184400-71187800	Weak transcription	Liver	Liver
39	chr14:71184400-71194400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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