Variant report

Variant	rs2075910
Chromosome Location	chr10:43614230-43614231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:43611889..43615361-chr10:43616709..43619694,4	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1059484	0.86[ASN][1000 genomes]
rs10793422	0.82[ASN][1000 genomes]
rs12241923	0.80[EUR][1000 genomes]
rs1254958	0.84[ASN][1000 genomes]
rs1254959	0.85[ASN][1000 genomes]
rs1254960	0.86[ASN][1000 genomes]
rs1254962	0.86[ASN][1000 genomes]
rs1254963	0.86[ASN][1000 genomes]
rs1254965	0.86[ASN][1000 genomes]
rs1254967	0.86[ASN][1000 genomes]
rs1254968	0.86[ASN][1000 genomes]
rs1270015	0.86[ASN][1000 genomes]
rs1272142	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17153156	0.86[EUR][1000 genomes]
rs1800861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1864395	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1864399	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1864400	1.00[ASN][1000 genomes]
rs2003317	0.86[ASN][1000 genomes]
rs2075912	0.97[ASN][1000 genomes]
rs2075913	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2115817	0.86[ASN][1000 genomes]
rs2249005	0.94[ASN][1000 genomes]
rs2257767	0.87[ASN][1000 genomes]
rs2293020	0.86[ASN][1000 genomes]
rs2435337	0.87[ASN][1000 genomes]
rs2435338	0.91[ASN][1000 genomes]
rs2435339	0.91[ASN][1000 genomes]
rs2435354	0.87[ASN][1000 genomes]
rs2435376	0.83[ASN][1000 genomes]
rs2435377	0.86[ASN][1000 genomes]
rs2435383	0.86[ASN][1000 genomes]
rs2435384	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2435385	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2503841	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2503848	0.86[ASN][1000 genomes]
rs2503849	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2503860	0.86[ASN][1000 genomes]
rs2503863	0.86[ASN][1000 genomes]
rs2503864	0.86[ASN][1000 genomes]
rs2503865	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2503866	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2503881	0.86[ASN][1000 genomes]
rs2505505	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2505506	0.88[ASN][1000 genomes]
rs2505511	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2505512	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2505513	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2505514	0.94[ASN][1000 genomes]
rs2505553	0.86[ASN][1000 genomes]
rs2505554	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2505557	0.85[ASN][1000 genomes]
rs2565200	0.97[ASN][1000 genomes]
rs2565201	0.97[ASN][1000 genomes]
rs2742233	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2742234	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2742235	0.96[ASN][1000 genomes]
rs2742237	0.97[ASN][1000 genomes]
rs2742239	0.97[ASN][1000 genomes]
rs2742240	0.94[ASN][1000 genomes]
rs2742241	0.94[ASN][1000 genomes]
rs3004211	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3004214	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7096500	0.81[ASN][1000 genomes]
rs715106	0.99[ASN][1000 genomes]
rs741968	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS 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	56 gene(s)	inside rSNPs	diseases
2	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv1038102	chr10:43441601-43642908	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv466880	chr10:43452436-43616751	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
5	nsv550695	chr10:43452436-43616751	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
6	nsv895082	chr10:43530071-43755506	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv895083	chr10:43549708-43765485	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1051701	chr10:43555542-43642895	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv522592	chr10:43574936-43615505	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1046892	chr10:43609488-43636278	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
11	esv275022	chr10:43613026-43620551	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3378774	chr10:43614105-43614280	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2075910	CSGALNACT2	cis	Esophagus Muscularis	GTEx
rs2075910	CSGALNACT2	cis	Nerve Tibial	GTEx
rs2075910	CSGALNACT2	cis	Esophagus Mucosa	GTEx
rs2075910	CSGALNACT2	cis	Skin Sun Exposed Lower leg	GTEx
rs2075910	CSGALNACT2	cis	Artery Tibial	GTEx
rs2075910	CSGALNACT2	cis	Heart Left Ventricle	GTEx
rs2075910	CSGALNACT2	cis	Thyroid	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43601400-43632800	Weak transcription	Gastric	stomach
2	chr10:43601600-43624800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr10:43606400-43614800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr10:43606400-43632600	Weak transcription	Right Atrium	heart
5	chr10:43606600-43616400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:43606600-43616800	Weak transcription	Right Ventricle	heart
7	chr10:43606600-43626000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:43606800-43616800	Weak transcription	Fetal Lung	lung
9	chr10:43607800-43617400	Weak transcription	Spleen	Spleen
10	chr10:43609200-43616600	Weak transcription	HUVEC	blood vessel
11	chr10:43609400-43614400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:43609400-43614400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:43609800-43626800	Weak transcription	Fetal Intestine Small	intestine
14	chr10:43610400-43615000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr10:43611400-43615200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr10:43611400-43616200	Weak transcription	Lung	lung
17	chr10:43611800-43616400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr10:43611800-43621200	Weak transcription	Fetal Intestine Large	intestine
19	chr10:43613400-43614600	Enhancers	Liver	Liver
20	chr10:43614000-43615200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr10:43614000-43615400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr10:43614000-43616600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr10:43614200-43616200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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