Variant report

Variant	rs11994018
Chromosome Location	chr8:9493701-9493702
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9485608..9489855-chr8:9491266..9494747,4	K562	blood:
2	chr8:9491095..9493822-chr8:9498438..9500490,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10090598	0.84[EUR][1000 genomes]
rs10109688	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11774818	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11775432	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[EUR][1000 genomes]
rs11776199	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11777891	0.92[EUR][1000 genomes]
rs11780274	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11780757	0.92[EUR][1000 genomes]
rs11784858	0.90[EUR][1000 genomes]
rs11991547	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12547639	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13249570	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13250838	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13256808	0.83[ASN][1000 genomes]
rs13256939	0.86[EUR][1000 genomes]
rs13258733	0.90[EUR][1000 genomes]
rs13259379	0.86[CEU][hapmap]
rs13261385	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes]
rs13263825	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13264510	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs13265363	0.82[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13267100	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13268770	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13270240	0.82[CEU][hapmap];0.93[CHB][hapmap];0.90[EUR][1000 genomes]
rs13273330	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13273771	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13274310	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[EUR][1000 genomes]
rs13275867	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13276464	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13277588	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13280515	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13282049	0.94[EUR][1000 genomes]
rs1393	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1471203	0.87[YRI][hapmap]
rs17150206	0.82[EUR][1000 genomes]
rs17734024	0.88[CEU][hapmap];0.89[TSI][hapmap]
rs28696132	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28711551	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34074860	0.81[ASN][1000 genomes]
rs34095920	0.90[EUR][1000 genomes]
rs34173677	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34182142	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34319155	0.92[EUR][1000 genomes]
rs34393110	0.90[EUR][1000 genomes]
rs34413242	0.83[EUR][1000 genomes]
rs34422213	0.81[AMR][1000 genomes]
rs34638238	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34679455	0.89[EUR][1000 genomes]
rs34848966	0.89[EUR][1000 genomes]
rs34926681	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34973657	0.88[EUR][1000 genomes]
rs35017872	0.94[EUR][1000 genomes]
rs35054885	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35197051	0.89[EUR][1000 genomes]
rs35361105	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35599091	0.80[EUR][1000 genomes]
rs35700558	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35722901	0.87[EUR][1000 genomes]
rs35812948	0.89[EUR][1000 genomes]
rs35890521	0.90[EUR][1000 genomes]
rs36090374	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4128324	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4263773	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4272381	1.00[CHB][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];0.87[JPT][hapmap]
rs4282576	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4289816	0.88[CEU][hapmap];0.87[CHB][hapmap];0.82[GIH][hapmap];0.94[TSI][hapmap]
rs4376499	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4458881	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4493906	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4535743	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4551359	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4570159	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4840432	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4841172	0.84[EUR][1000 genomes]
rs4841186	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4841194	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4841195	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs55797444	0.81[AMR][1000 genomes]
rs62493904	0.94[EUR][1000 genomes]
rs62493905	0.94[EUR][1000 genomes]
rs7013834	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs71516518	0.90[EUR][1000 genomes]
rs71516523	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7388554	0.83[AMR][1000 genomes]
rs7463594	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7824880	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7839648	1.00[CEU][hapmap];0.93[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9650636	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv610225	chr8:9493701-9499605	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv437043	chr8:9493701-9501447	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11994018	FLJ10661	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9474200-9509000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:9475200-9494400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:9481000-9510800	Weak transcription	Primary B cells from cord blood	blood
4	chr8:9481200-9508400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:9481800-9501400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:9484800-9504600	Weak transcription	Primary T cells from cord blood	blood
7	chr8:9485000-9495000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr8:9485000-9502800	Weak transcription	Psoas Muscle	Psoas
9	chr8:9485200-9493800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:9485600-9498200	Weak transcription	Ovary	ovary
11	chr8:9485600-9510400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:9485600-9510400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:9485800-9508000	Weak transcription	Fetal Brain Female	brain
14	chr8:9486200-9494400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr8:9486400-9494400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr8:9486400-9502800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:9486800-9494400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:9487200-9500600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:9487400-9509000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:9487800-9508400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr8:9489600-9494000	Weak transcription	Brain Substantia Nigra	brain
22	chr8:9489600-9494200	Weak transcription	Brain Hippocampus Middle	brain
23	chr8:9491200-9494000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:9491200-9502800	Weak transcription	Aorta	Aorta
25	chr8:9491400-9494200	Weak transcription	Brain Anterior Caudate	brain
26	chr8:9491400-9504200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:9491400-9507800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr8:9491400-9509000	Weak transcription	HSMM	muscle
29	chr8:9492200-9508000	Weak transcription	NH-A	brain
30	chr8:9492400-9495600	Weak transcription	NHDF-Ad	bronchial
31	chr8:9492400-9507800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:9493400-9495000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr8:9493600-9493800	Enhancers	Brain Angular Gyrus	brain
34	chr8:9493600-9509000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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