Variant report

Variant	rs2861151
Chromosome Location	chr10:97552970-97552971
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10509686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10509695	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10786239	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10786247	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs10882643	0.96[CEU][hapmap];0.82[CHB][hapmap]
rs10882644	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs10882649	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs10882650	0.85[AMR][1000 genomes]
rs10882661	0.91[ASN][1000 genomes]
rs10882671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188398	1.00[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.87[GIH][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap]
rs11188407	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs11188411	1.00[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.87[GIH][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap]
rs11188417	1.00[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.87[GIH][hapmap];0.92[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs11188437	0.81[EUR][1000 genomes]
rs11188444	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188464	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188480	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188484	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11188489	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188501	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11188504	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188506	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188509	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188516	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188531	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11593044	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11593761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11597321	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11598475	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12354848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12357173	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12358481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12359343	0.86[ASW][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.89[YRI][hapmap]
rs12359366	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12360382	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12411569	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1340837	0.85[CEU][hapmap]
rs17382898	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17461546	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17462179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17553401	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1891535	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1891536	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1935814	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1935815	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296691	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs2861153	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2861154	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176884	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3181122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3192654	0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4037	1.00[ASW][hapmap];0.92[CEU][hapmap];0.82[CHB][hapmap];0.87[GIH][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap]
rs4258314	1.00[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.87[GIH][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap]
rs4320886	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4344425	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4402217	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4463786	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4512761	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4568937	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4918955	0.85[AMR][1000 genomes]
rs4918966	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4918970	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4918972	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55801606	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61869573	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61869591	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61871796	0.86[AMR][1000 genomes]
rs6946	0.86[AMR][1000 genomes]
rs7072953	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7073010	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7074866	0.82[EUR][1000 genomes]
rs7089668	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7091088	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749050	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs7895056	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7896876	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7918339	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[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	nsv531923	chr10:97366055-97725757	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv895905	chr10:97513362-97686064	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv895906	chr10:97513362-97703650	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv895907	chr10:97529318-97686064	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1052213	chr10:97536795-97561941	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv895908	chr10:97544513-97724247	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2861151	ALDH18A1	cis	cerebellum	SCAN
rs2861151	ENTPD1	Cis_1M	lymphoblastoid	RTeQTL
rs2861151	FRAT2	cis	cerebellum	SCAN
rs2861151	ENTPD1	cis	lymphoblastoid	seeQTL
rs2861151	ALDH18A1	cis	parietal	SCAN
rs2861151	ENTPD1	cis	multi-tissue	Pritchard
rs2861151	HHEX	cis	cerebellum	SCAN
rs2861151	ALDH18A1	Cis_1M	lymphoblastoid	RTeQTL
rs2861151	NOC3L	cis	cerebellum	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97544800-97554200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr10:97544800-97558200	Weak transcription	Spleen	Spleen
3	chr10:97550600-97557200	Enhancers	Primary B cells from peripheral blood	blood
4	chr10:97550800-97556800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr10:97551400-97553600	Enhancers	Aorta	Aorta
6	chr10:97551400-97554400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:97551400-97556800	Enhancers	Primary B cells from cord blood	blood
8	chr10:97551600-97553400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:97551600-97553600	Enhancers	Osteobl	bone
10	chr10:97551800-97553400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr10:97551800-97554200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:97551800-97554200	Enhancers	Adipose Nuclei	Adipose
13	chr10:97551800-97554200	Enhancers	Fetal Muscle Leg	muscle
14	chr10:97551800-97554200	Enhancers	NHDF-Ad	bronchial
15	chr10:97551800-97554800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr10:97552000-97553000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr10:97552000-97553000	Enhancers	Stomach Smooth Muscle	stomach
18	chr10:97552000-97553200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr10:97552200-97553400	Enhancers	Brain Anterior Caudate	brain
20	chr10:97552200-97553400	Enhancers	Colon Smooth Muscle	Colon
21	chr10:97552200-97553600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr10:97552200-97554400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr10:97552200-97555000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr10:97552200-97555200	Enhancers	Fetal Stomach	stomach
25	chr10:97552200-97556200	Enhancers	HUVEC	blood vessel
26	chr10:97552400-97553200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr10:97552400-97553400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:97552400-97553400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr10:97552400-97553400	Enhancers	Fetal Lung	lung
30	chr10:97552400-97553600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr10:97552400-97553600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr10:97552400-97553600	Enhancers	Brain Substantia Nigra	brain
33	chr10:97552400-97553600	Enhancers	NH-A	brain
34	chr10:97552400-97553800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr10:97552400-97554400	Enhancers	Placenta	Placenta
36	chr10:97552400-97554800	Enhancers	Primary hematopoietic stem cells	blood
37	chr10:97552600-97553000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr10:97552600-97553000	Enhancers	Left Ventricle	heart
39	chr10:97552600-97553000	Weak transcription	NHLF	lung
40	chr10:97552600-97553200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr10:97552600-97553200	Enhancers	HSMMtube	muscle
42	chr10:97552600-97553400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr10:97552600-97553400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr10:97552600-97553400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr10:97552600-97553400	Enhancers	Brain Cingulate Gyrus	brain
46	chr10:97552600-97553400	Enhancers	Brain Hippocampus Middle	brain
47	chr10:97552600-97553400	Enhancers	Duodenum Mucosa	Duodenum
48	chr10:97552600-97553400	Enhancers	Fetal Kidney	kidney
49	chr10:97552600-97553400	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr10:97552600-97553600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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