Variant report

Variant	rs2468139
Chromosome Location	chr8:119113078-119113079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:119112265..119114853-chr8:119117703..119122505,4	K562	blood:
2	chr8:119110587..119114764-chr8:119114883..119119035,6	MCF-7	breast:
3	chr8:119105713..119109279-chr8:119110657..119113887,4	K562	blood:
4	chr8:119105713..119109059-chr8:119110657..119113887,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10102634	1.00[CEU][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes]
rs10106398	0.81[EUR][1000 genomes]
rs1457201	0.85[ASN][1000 genomes]
rs1563564	1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.81[JPT][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17454315	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17477441	0.92[CHB][hapmap]
rs2445912	0.86[ASN][1000 genomes]
rs2445923	0.92[CHB][hapmap];0.96[CHD][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs2451140	0.82[CEU][hapmap]
rs2451141	0.83[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap]
rs2451143	1.00[CEU][hapmap];0.92[CHB][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2468140	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2468153	0.89[ASN][1000 genomes]
rs2468154	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2468155	0.92[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs2514760	1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2514761	1.00[CEU][hapmap];0.92[CHB][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2514762	0.92[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs28421966	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv891412	chr8:119107051-119139385	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
9	nsv932638	chr8:119111068-119115831	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2468139	SNTB1	cis	parietal	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119094200-119117000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:119097600-119113400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:119098800-119117800	Weak transcription	Brain Germinal Matrix	brain
4	chr8:119102000-119119600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:119102400-119118200	Weak transcription	Fetal Brain Male	brain
6	chr8:119102600-119117000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:119102600-119120000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:119102800-119117200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:119107200-119119400	Weak transcription	Fetal Kidney	kidney
10	chr8:119107400-119113200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:119108600-119114200	Genic enhancers	NHEK	skin
12	chr8:119108600-119114400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:119108800-119114200	Genic enhancers	Osteobl	bone
14	chr8:119109000-119113800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:119109600-119114800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr8:119109800-119113800	Genic enhancers	NH-A	brain
17	chr8:119109800-119114000	Genic enhancers	NHDF-Ad	bronchial
18	chr8:119109800-119114000	Genic enhancers	NHLF	lung
19	chr8:119109800-119115800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:119110000-119118200	Genic enhancers	Liver	Liver
21	chr8:119110600-119114000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:119110600-119114000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:119110600-119115600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:119110600-119115600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:119110600-119115800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:119110600-119119600	Weak transcription	Brain Anterior Caudate	brain
27	chr8:119110600-119119600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr8:119110800-119114000	Enhancers	HUVEC	blood vessel
29	chr8:119111000-119113200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr8:119111000-119113200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:119111000-119113400	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr8:119111000-119113400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr8:119111000-119114200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr8:119111200-119113200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:119111200-119113400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:119111200-119114200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr8:119111200-119114800	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr8:119111400-119113200	Enhancers	Primary T cells fromperipheralblood	blood
39	chr8:119111400-119113200	Enhancers	Psoas Muscle	Psoas
40	chr8:119111400-119113600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:119111400-119114000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr8:119111400-119114000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr8:119111400-119114200	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr8:119111400-119118600	Weak transcription	HSMMtube	muscle
45	chr8:119111600-119119800	Weak transcription	Brain Substantia Nigra	brain
46	chr8:119111800-119113600	Enhancers	Primary T cells from cord blood	blood
47	chr8:119111800-119113800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:119111800-119118200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:119111800-119118400	Weak transcription	Fetal Brain Female	brain
50	chr8:119112000-119117000	Weak transcription	Brain Angular Gyrus	brain

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