Variant report

Variant	rs17151854
Chromosome Location	chr8:10236559-10236560
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10087341	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10089339	0.82[MEX][hapmap]
rs10096337	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10097184	0.82[MEX][hapmap]
rs10105867	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10283145	1.00[CHD][hapmap];0.85[JPT][hapmap]
rs11774221	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs17151667	0.82[MEX][hapmap]
rs17151728	0.82[MEX][hapmap]
rs17151843	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs17151859	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17707988	0.82[MEX][hapmap]
rs17708090	0.82[MEX][hapmap]
rs17708276	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[MEX][hapmap]
rs17709397	0.85[JPT][hapmap]
rs17765901	1.00[CHD][hapmap];0.85[JPT][hapmap]
rs17767019	0.83[CEU][hapmap]
rs1986676	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2001364	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs28402777	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28406568	0.83[ASN][1000 genomes]
rs28491054	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2952185	1.00[CHD][hapmap]
rs2975680	1.00[CHB][hapmap]
rs2975682	1.00[CHB][hapmap]
rs3812495	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4433149	1.00[CHD][hapmap];0.85[JPT][hapmap]
rs4526367	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4610752	0.85[JPT][hapmap]
rs4840480	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6601443	1.00[CHD][hapmap]
rs6601444	0.84[CEU][hapmap]
rs6601451	0.85[JPT][hapmap]
rs68071218	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6984111	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6997224	0.82[MEX][hapmap]
rs73197263	0.82[EUR][1000 genomes]
rs7813873	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7824675	1.00[CHD][hapmap];0.85[JPT][hapmap]
rs7835507	0.82[MEX][hapmap]
rs7841921	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv527326	chr8:10199548-10320019	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17151854	NEURL2	trans	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10192600-10282400	Weak transcription	Gastric	stomach
2	chr8:10224000-10255800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:10228600-10247800	Weak transcription	Liver	Liver
4	chr8:10229000-10239400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr8:10233800-10236800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:10233800-10240000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:10233800-10241400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:10233800-10252400	Weak transcription	Fetal Brain Male	brain
9	chr8:10234000-10241200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:10235200-10237200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:10235200-10237400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:10235200-10252400	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:10235400-10237400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:10235400-10237600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr8:10235400-10239800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:10235400-10256800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:10235600-10239800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:10235600-10240600	Weak transcription	Fetal Brain Female	brain
19	chr8:10235600-10241600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr8:10235600-10244000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:10235600-10244400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:10235800-10239000	Weak transcription	Psoas Muscle	Psoas
23	chr8:10235800-10241600	Weak transcription	Right Atrium	heart
24	chr8:10236000-10236600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr8:10236000-10236600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr8:10236000-10237600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr8:10236000-10239800	Weak transcription	Left Ventricle	heart
28	chr8:10236200-10238000	Enhancers	Primary T cells from cord blood	blood
29	chr8:10236200-10239600	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:10236200-10240000	Weak transcription	Spleen	Spleen
31	chr8:10236200-10247400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:10236200-10252600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr8:10236200-10255800	Weak transcription	Pancreas	Pancrea
34	chr8:10236200-10255800	Weak transcription	Right Ventricle	heart
35	chr8:10236400-10237400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr8:10236400-10241400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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