Variant report

Variant	rs71317510
Chromosome Location	chr3:112315547-112315548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10511317	0.85[EUR][1000 genomes]
rs11919639	0.82[EUR][1000 genomes]
rs11921669	0.82[EUR][1000 genomes]
rs13059364	0.92[EUR][1000 genomes]
rs13063173	0.92[EUR][1000 genomes]
rs13064534	0.86[EUR][1000 genomes]
rs13065703	0.92[EUR][1000 genomes]
rs13070342	0.92[EUR][1000 genomes]
rs13071492	0.92[EUR][1000 genomes]
rs13080547	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13080749	0.92[EUR][1000 genomes]
rs13081201	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13081265	0.89[EUR][1000 genomes]
rs13081632	0.89[EUR][1000 genomes]
rs13088339	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13088349	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13088467	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13094161	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13094649	0.92[EUR][1000 genomes]
rs13095000	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13096943	0.89[EUR][1000 genomes]
rs16845067	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16859661	0.89[EUR][1000 genomes]
rs16859674	0.81[EUR][1000 genomes]
rs16859727	0.92[EUR][1000 genomes]
rs16859758	0.92[EUR][1000 genomes]
rs16859775	0.83[ASN][1000 genomes]
rs16859779	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16859787	1.00[EUR][1000 genomes]
rs16859793	1.00[EUR][1000 genomes]
rs1994712	0.81[AMR][1000 genomes]
rs2220656	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705526	0.85[EUR][1000 genomes]
rs28365853	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34080815	0.92[EUR][1000 genomes]
rs34139211	0.92[EUR][1000 genomes]
rs34248586	0.92[EUR][1000 genomes]
rs34284082	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34541731	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34596334	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34597203	0.92[EUR][1000 genomes]
rs34645913	0.92[EUR][1000 genomes]
rs34829517	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34889961	0.92[EUR][1000 genomes]
rs34949685	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34962178	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35107041	0.82[EUR][1000 genomes]
rs35240469	0.92[EUR][1000 genomes]
rs35255669	1.00[EUR][1000 genomes]
rs35349986	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35512450	0.92[EUR][1000 genomes]
rs35526995	0.92[EUR][1000 genomes]
rs35529363	1.00[EUR][1000 genomes]
rs35692417	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35709173	1.00[EUR][1000 genomes]
rs35725070	0.92[EUR][1000 genomes]
rs35748518	0.92[EUR][1000 genomes]
rs35803911	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35840933	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35931975	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36025914	1.00[EUR][1000 genomes]
rs36031379	0.83[EUR][1000 genomes]
rs36045008	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36061184	1.00[EUR][1000 genomes]
rs36146261	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36153507	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736269	0.92[EUR][1000 genomes]
rs3736270	0.92[EUR][1000 genomes]
rs3736271	0.92[EUR][1000 genomes]
rs3773698	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3773701	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3773704	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3773706	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3773710	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3821684	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55742760	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56662636	0.92[EUR][1000 genomes]
rs56856838	0.92[EUR][1000 genomes]
rs56970524	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57346109	0.92[EUR][1000 genomes]
rs58891772	0.92[EUR][1000 genomes]
rs59279185	0.92[EUR][1000 genomes]
rs59858117	0.92[EUR][1000 genomes]
rs60321074	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60646325	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66486470	0.92[EUR][1000 genomes]
rs66698345	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66791711	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66910014	0.92[EUR][1000 genomes]
rs67021100	0.89[EUR][1000 genomes]
rs67204151	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67513863	0.96[EUR][1000 genomes]
rs67940544	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67944354	0.92[EUR][1000 genomes]
rs71317505	0.85[EUR][1000 genomes]
rs71317506	0.89[EUR][1000 genomes]
rs71317507	0.92[EUR][1000 genomes]
rs71317508	0.92[EUR][1000 genomes]
rs724125	1.00[EUR][1000 genomes]
rs73229350	0.92[EUR][1000 genomes]
rs73229353	0.92[EUR][1000 genomes]
rs73229398	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs958935	1.00[EUR][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	nsv877342	chr3:112185025-112332629	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv591301	chr3:112252532-112332629	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers 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	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs71317510	SLC35A5	cis	Nerve Tibial	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112281800-112324200	Weak transcription	Spleen	Spleen
2	chr3:112281800-112325400	Weak transcription	Gastric	stomach
3	chr3:112282000-112330400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:112282000-112330600	Weak transcription	Esophagus	oesophagus
5	chr3:112282400-112316800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:112282400-112322800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:112282400-112324200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:112282400-112340000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:112283000-112316400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr3:112290400-112317400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:112290600-112315600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:112291600-112320600	Weak transcription	NHLF	lung
13	chr3:112293200-112315600	Weak transcription	NH-A	brain
14	chr3:112293200-112318000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr3:112298600-112325200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:112298800-112335200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:112300200-112315800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr3:112300200-112317400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:112300200-112331000	Weak transcription	Lung	lung
20	chr3:112300200-112334000	Weak transcription	Fetal Stomach	stomach
21	chr3:112301600-112315600	Weak transcription	Stomach Mucosa	stomach
22	chr3:112301600-112316600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:112302000-112317400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr3:112302600-112322800	Weak transcription	Colon Smooth Muscle	Colon
25	chr3:112302800-112324200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr3:112303400-112317000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr3:112303600-112322800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:112303800-112324200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr3:112304000-112320400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr3:112304200-112317600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr3:112305000-112324200	Weak transcription	Fetal Brain Male	brain
32	chr3:112305200-112315600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:112305200-112315800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr3:112305200-112316000	Weak transcription	Osteobl	bone
35	chr3:112305200-112317200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr3:112305200-112323000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr3:112305200-112323600	Weak transcription	Brain Substantia Nigra	brain
38	chr3:112305400-112323400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:112305400-112324000	Weak transcription	Brain Anterior Caudate	brain
40	chr3:112305400-112330400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr3:112305600-112324200	Weak transcription	Fetal Kidney	kidney
42	chr3:112305800-112334800	Weak transcription	Aorta	Aorta
43	chr3:112306800-112315800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:112307400-112329000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr3:112309600-112315600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:112309800-112318200	Weak transcription	Placenta	Placenta
47	chr3:112311400-112316800	Strong transcription	Primary T cells from cord blood	blood
48	chr3:112311600-112316600	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr3:112311600-112330600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr3:112311600-112331000	Weak transcription	Psoas Muscle	Psoas

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