Variant report

Variant	rs1935816
Chromosome Location	chr10:97551496-97551497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10736094	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10748645	0.81[ASN][1000 genomes]
rs10786229	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10786234	0.83[ASN][1000 genomes]
rs10786236	0.83[ASN][1000 genomes]
rs10786237	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10882647	0.81[AMR][1000 genomes]
rs10882651	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10882652	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10882666	0.81[ASN][1000 genomes]
rs11188486	0.81[ASN][1000 genomes]
rs11188513	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11517041	0.81[ASN][1000 genomes]
rs12244559	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1933167	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2105359	0.89[AFR][1000 genomes]
rs2153913	0.83[ASN][1000 genomes]
rs2153914	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2185818	0.83[ASN][1000 genomes]
rs2297788	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2901872	0.81[ASN][1000 genomes]
rs3181129	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3901451	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3929900	0.83[ASN][1000 genomes]
rs4396219	0.81[ASN][1000 genomes]
rs4406763	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4614366	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4917705	0.82[ASN][1000 genomes]
rs4917707	0.82[ASN][1000 genomes]
rs4918968	0.83[ASN][1000 genomes]
rs4918969	0.81[ASN][1000 genomes]
rs4918973	0.86[EUR][1000 genomes]
rs6584013	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6584027	0.83[ASN][1000 genomes]
rs6584030	0.81[ASN][1000 genomes]
rs7075081	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7079312	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7096248	0.89[AFR][1000 genomes]
rs7097074	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7894648	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7913082	0.81[ASN][1000 genomes]
rs7914286	0.81[ASN][1000 genomes]
rs7920801	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7923971	0.81[AFR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1935816	ENTPD1	cis	multi-tissue	Pritchard
rs1935816	ENTPD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97543000-97552200	Weak transcription	Fetal Stomach	stomach
2	chr10:97543200-97552200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr10:97543600-97552200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr10:97544400-97552400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr10:97544600-97552200	Weak transcription	Brain Anterior Caudate	brain
6	chr10:97544600-97552600	Weak transcription	Brain Hippocampus Middle	brain
7	chr10:97544800-97554200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr10:97544800-97558200	Weak transcription	Spleen	Spleen
9	chr10:97545200-97552600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr10:97545400-97552000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr10:97548800-97552400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:97549000-97551800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr10:97549200-97551800	Weak transcription	NHDF-Ad	bronchial
14	chr10:97549200-97552200	Weak transcription	HUVEC	blood vessel
15	chr10:97549200-97552400	Weak transcription	NH-A	brain
16	chr10:97549200-97552600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr10:97549800-97552400	Weak transcription	NHLF	lung
18	chr10:97550000-97551600	Weak transcription	Osteobl	bone
19	chr10:97550000-97552200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr10:97550000-97552200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr10:97550600-97557200	Enhancers	Primary B cells from peripheral blood	blood
22	chr10:97550800-97552600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr10:97550800-97556800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr10:97551000-97551600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr10:97551200-97552200	Weak transcription	Colon Smooth Muscle	Colon
26	chr10:97551200-97552600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr10:97551200-97552800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
28	chr10:97551400-97552400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:97551400-97552600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr10:97551400-97553600	Enhancers	Aorta	Aorta
31	chr10:97551400-97554400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr10:97551400-97556800	Enhancers	Primary B cells from cord blood	blood

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