Variant report

Variant	rs13099106
Chromosome Location	chr3:195025263-195025264
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:195025120-195025270	HMEC	breast:	n/a	n/a
2	RAD21	chr3:195025215-195025344	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr3:195025235-195025272	Hela-S3	cervix:	n/a	n/a
4	RAD21	chr3:195025145-195025378	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:194997928..195000350-chr3:195025041..195026973,2	K562	blood:

Variant related genes	Relation type
ACAP2	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10804414	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1094677	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1105165	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs11706264	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12695049	0.87[ASN][1000 genomes]
rs13059843	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13062518	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13072826	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13072883	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13091924	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13324903	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1538767	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2791603	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4677834	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4677835	0.90[EUR][1000 genomes]
rs55672262	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55927338	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6778719	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7611238	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7633265	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7634345	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7651757	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs823300	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs823301	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs823302	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs823306	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs823310	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs823311	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs823314	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs931528	0.82[CHB][hapmap]
rs9810077	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9823964	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9840346	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
3	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
4	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
5	nsv1010168	chr3:194874494-195135790	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv536877	chr3:194874494-195135790	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS 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	21 gene(s)	inside rSNPs	diseases
7	nsv997956	chr3:194879534-195087539	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv536878	chr3:194879534-195087539	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	esv1832781	chr3:194902818-195528226	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
10	nsv432508	chr3:194916131-195478861	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
11	nsv432510	chr3:194935314-195478861	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
12	nsv1005519	chr3:194964301-195340515	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
13	nsv432511	chr3:194986167-195479748	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
14	nsv432512	chr3:195007260-195475989	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS 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	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13099106	XXYLT1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194992600-195090000	Weak transcription	Aorta	Aorta
2	chr3:194992800-195039800	Weak transcription	Fetal Brain Male	brain
3	chr3:194992800-195039800	Weak transcription	Right Ventricle	heart
4	chr3:194993000-195038600	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:194993000-195039200	Weak transcription	Brain Germinal Matrix	brain
6	chr3:194993000-195039600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:194993000-195050400	Weak transcription	Colon Smooth Muscle	Colon
8	chr3:194993000-195076000	Weak transcription	Fetal Heart	heart
9	chr3:194995000-195039800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr3:194995400-195040000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr3:194996200-195032200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:194996400-195033800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr3:194997200-195027400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:194999200-195029400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr3:195002200-195028200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr3:195002600-195027400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:195003600-195028600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:195004000-195039600	Weak transcription	Pancreas	Pancrea
19	chr3:195004000-195066600	Weak transcription	Small Intestine	intestine
20	chr3:195004200-195039600	Weak transcription	Gastric	stomach
21	chr3:195005200-195039600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr3:195007800-195029600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:195008000-195025400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:195008000-195039800	Weak transcription	NH-A	brain
25	chr3:195009200-195025400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr3:195010000-195039000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:195010000-195039600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr3:195010000-195039800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr3:195010000-195039800	Weak transcription	Brain Substantia Nigra	brain
30	chr3:195010000-195061000	Weak transcription	Fetal Kidney	kidney
31	chr3:195010000-195076400	Weak transcription	Brain Angular Gyrus	brain
32	chr3:195013200-195028800	Weak transcription	NHDF-Ad	bronchial
33	chr3:195013200-195039400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr3:195014200-195040800	Weak transcription	Hela-S3	cervix
35	chr3:195014800-195025400	Weak transcription	Lung	lung
36	chr3:195015600-195026800	Strong transcription	Adipose Nuclei	Adipose
37	chr3:195016000-195039600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr3:195016200-195039800	Weak transcription	NHLF	lung
39	chr3:195016400-195038600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr3:195017600-195028000	Strong transcription	Fetal Thymus	thymus
41	chr3:195018200-195034200	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr3:195018600-195026600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:195018600-195026800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr3:195018600-195026800	Strong transcription	Fetal Muscle Leg	muscle
45	chr3:195018600-195028600	Weak transcription	HSMM	muscle
46	chr3:195018800-195027400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr3:195018800-195027800	Strong transcription	Fetal Stomach	stomach
48	chr3:195019000-195025400	Weak transcription	K562	blood
49	chr3:195019400-195034000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr3:195020400-195028000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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