Variant report

Variant	rs1789159
Chromosome Location	chr11:107372546-107372547
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10502092	0.81[GIH][hapmap]
rs1789160	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1789161	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs583852	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs591463	0.80[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898365	chr11:106944975-107430300	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv898366	chr11:106944975-107433835	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv898367	chr11:106944975-107443420	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv898369	chr11:106958304-107443420	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv898370	chr11:107027991-107430300	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv898372	chr11:107049968-107433835	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv898373	chr11:107124903-107433835	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv2756363	chr11:107189790-107376790	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv556376	chr11:107250851-107486598	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv898376	chr11:107299631-107443420	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1789159	ALKBH8	cis	cerebellum	SCAN
rs1789159	ALKBH8	cis	parietal	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107364000-107394000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:107364200-107374000	Weak transcription	NHDF-Ad	bronchial
3	chr11:107364400-107372600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:107364400-107372600	Weak transcription	A549	lung
5	chr11:107364400-107374600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:107366800-107372600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:107367000-107372600	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:107367000-107372600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr11:107367000-107372600	Weak transcription	NHEK	skin
10	chr11:107367200-107372600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:107367200-107372600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:107367200-107372600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:107367200-107372600	Weak transcription	Left Ventricle	heart
14	chr11:107367200-107372600	Weak transcription	HSMMtube	muscle
15	chr11:107367200-107375400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:107367200-107387400	Weak transcription	Fetal Heart	heart
17	chr11:107367400-107372600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:107367400-107375200	Weak transcription	Brain Angular Gyrus	brain
19	chr11:107368000-107372600	Weak transcription	Spleen	Spleen
20	chr11:107369200-107406400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:107369400-107372600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr11:107369400-107372600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:107369800-107372800	Weak transcription	HUVEC	blood vessel
24	chr11:107370000-107373200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr11:107370000-107433800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr11:107370200-107372600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:107370200-107372600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:107370600-107372600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr11:107370800-107372600	Weak transcription	Ovary	ovary
30	chr11:107370800-107374800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr11:107371000-107372600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:107371000-107372600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:107371000-107372600	Weak transcription	Fetal Intestine Large	intestine
34	chr11:107371000-107372600	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:107371000-107372600	Weak transcription	K562	blood
36	chr11:107371000-107377000	Weak transcription	NHLF	lung
37	chr11:107371000-107383200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:107371200-107374400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:107371200-107393000	Weak transcription	Brain Substantia Nigra	brain
40	chr11:107371200-107421200	Weak transcription	Right Ventricle	heart
41	chr11:107371600-107372600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:107371600-107372600	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr11:107371600-107373400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:107371600-107373400	ZNF genes & repeats	Dnd41	blood
45	chr11:107371600-107373800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
46	chr11:107371800-107372600	Strong transcription	Fetal Lung	lung
47	chr11:107371800-107373000	Strong transcription	HSMM	muscle
48	chr11:107371800-107373400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:107372000-107373200	ZNF genes & repeats	Primary B cells from cord blood	blood
50	chr11:107372000-107373200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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