Variant report

Variant	rs11997874
Chromosome Location	chr8:20140144-20140145
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11988036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13268814	0.81[AFR][1000 genomes]
rs13270944	0.94[LWK][hapmap];1.00[MKK][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes]
rs2898500	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66746853	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS 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
3	nsv890644	chr8:20138477-20162213	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11997874	NAT1	cis	parietal	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20135400-20145400	Weak transcription	Fetal Lung	lung
2	chr8:20135800-20141200	Weak transcription	Right Atrium	heart
3	chr8:20136000-20144000	Weak transcription	Esophagus	oesophagus
4	chr8:20137400-20141400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:20137400-20143600	Genic enhancers	Dnd41	blood
6	chr8:20137600-20141000	Enhancers	Fetal Muscle Leg	muscle
7	chr8:20137600-20141400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:20138400-20143800	Weak transcription	Brain Anterior Caudate	brain
9	chr8:20138400-20144800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:20138600-20143800	Weak transcription	Fetal Brain Male	brain
11	chr8:20138800-20140400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr8:20138800-20145600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:20139000-20140600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:20139000-20141600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:20139200-20140200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:20139200-20140200	Weak transcription	Brain Germinal Matrix	brain
17	chr8:20139200-20140400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:20139200-20141600	Genic enhancers	HSMM	muscle
19	chr8:20139200-20141800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:20139200-20142000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr8:20139200-20142400	Enhancers	NHLF	lung
22	chr8:20139200-20142800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:20139200-20142800	Enhancers	NHDF-Ad	bronchial
24	chr8:20139400-20140200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:20139400-20140200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:20139400-20140200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:20139400-20140200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr8:20139400-20140200	Enhancers	HMEC	breast
29	chr8:20139400-20140200	Enhancers	NH-A	brain
30	chr8:20139400-20140200	Enhancers	NHEK	skin
31	chr8:20139400-20140200	Enhancers	Osteobl	bone
32	chr8:20139400-20141600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:20139600-20140200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr8:20139600-20140200	Enhancers	Fetal Thymus	thymus
35	chr8:20139600-20141000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:20139800-20140400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:20139800-20141400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr8:20140000-20140200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr8:20140000-20140400	Strong transcription	Fetal Brain Female	brain
40	chr8:20140000-20140400	Flanking Active TSS	HSMMtube	muscle
41	chr8:20140000-20141000	Weak transcription	Left Ventricle	heart
42	chr8:20140000-20141200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:20140000-20141200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr8:20140000-20145400	Weak transcription	Placenta	Placenta

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