Variant report

Variant	rs10838694
Chromosome Location	chr11:47351760-47351761
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47196984..47198613-chr11:47350804..47352943,2	MCF-7	breast:
2	chr11:47339728..47342271-chr11:47350100..47351829,2	MCF-7	breast:
3	chr11:47350500..47353711-chr11:47353800..47358007,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149182	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11039157	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11530168	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11570072	0.96[ASN][1000 genomes]
rs12221497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12573962	0.86[AMR][1000 genomes]
rs12575157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12575296	0.90[AMR][1000 genomes]
rs12576461	0.90[AMR][1000 genomes]
rs12576690	0.90[AMR][1000 genomes]
rs12576751	0.93[AMR][1000 genomes]
rs12577319	0.91[EUR][1000 genomes]
rs17726390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17790420	1.00[YRI][hapmap]
rs2290149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3736101	0.90[AMR][1000 genomes]
rs3758668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3758671	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs3758674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3816724	0.93[AMR][1000 genomes]
rs41301449	0.86[AMR][1000 genomes]
rs41304347	0.93[AMR][1000 genomes]
rs41310332	0.93[AMR][1000 genomes]
rs45489595	0.83[AMR][1000 genomes]
rs55764401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56168519	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56177220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56825896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56886689	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61896015	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61896047	0.86[AMR][1000 genomes]
rs61896051	0.93[AMR][1000 genomes]
rs61896053	0.90[AMR][1000 genomes]
rs61896054	0.90[AMR][1000 genomes]
rs61897361	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10838694	PACSIN3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47294600-47355200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr11:47295400-47352600	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr11:47295800-47352800	Strong transcription	Duodenum Mucosa	Duodenum
4	chr11:47296000-47353600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:47323400-47352400	Strong transcription	Thymus	Thymus
6	chr11:47324200-47354600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr11:47324800-47352600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr11:47325000-47352400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:47325000-47352800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:47325400-47353000	Strong transcription	Fetal Intestine Small	intestine
11	chr11:47326000-47353600	Strong transcription	Fetal Stomach	stomach
12	chr11:47327800-47352200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:47338800-47356200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:47339200-47353000	Weak transcription	NH-A	brain
15	chr11:47340200-47352800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:47342000-47351800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:47342200-47352400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr11:47342200-47353200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:47342400-47352000	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr11:47342400-47352400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:47342400-47352600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:47342600-47351800	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr11:47342600-47352200	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr11:47342600-47352200	Strong transcription	Fetal Brain Female	brain
25	chr11:47342600-47352400	Strong transcription	Dnd41	blood
26	chr11:47342600-47352600	Strong transcription	Liver	Liver
27	chr11:47342600-47352600	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr11:47342600-47352600	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr11:47342600-47353200	Strong transcription	Placenta	Placenta
30	chr11:47342800-47352000	Strong transcription	Primary T cells from cord blood	blood
31	chr11:47342800-47352200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:47342800-47352400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:47342800-47352400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:47342800-47352400	Strong transcription	Ovary	ovary
35	chr11:47342800-47352400	Strong transcription	Pancreas	Pancrea
36	chr11:47342800-47352400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:47342800-47352600	Strong transcription	Brain Germinal Matrix	brain
38	chr11:47342800-47352800	Strong transcription	Brain Anterior Caudate	brain
39	chr11:47342800-47353000	Strong transcription	Fetal Intestine Large	intestine
40	chr11:47342800-47353600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:47343200-47352200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:47343200-47352400	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:47343200-47352800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:47343200-47370600	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:47343800-47352800	Weak transcription	Fetal Brain Male	brain
46	chr11:47344800-47352400	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr11:47344800-47352600	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr11:47344800-47353000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:47345000-47351800	Strong transcription	Esophagus	oesophagus
50	chr11:47345000-47352400	Strong transcription	Brain Substantia Nigra	brain

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