Variant report

Variant	rs7011833
Chromosome Location	chr8:48232105-48232106
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10107926	0.96[EUR][1000 genomes]
rs10481296	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12216833	0.90[EUR][1000 genomes]
rs1552667	0.96[EUR][1000 genomes]
rs16927307	0.87[EUR][1000 genomes]
rs55841214	0.83[EUR][1000 genomes]
rs55918561	0.87[EUR][1000 genomes]
rs56107210	0.85[EUR][1000 genomes]
rs56391539	0.83[EUR][1000 genomes]
rs58828084	0.85[EUR][1000 genomes]
rs6989958	0.90[EUR][1000 genomes]
rs6992139	0.90[EUR][1000 genomes]
rs72644585	0.87[EUR][1000 genomes]
rs72644587	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72644597	0.90[EUR][1000 genomes]
rs72644602	0.88[EUR][1000 genomes]
rs72646317	0.86[EUR][1000 genomes]
rs72646321	0.90[EUR][1000 genomes]
rs72646324	0.90[EUR][1000 genomes]
rs72646330	0.94[EUR][1000 genomes]
rs72646348	0.87[EUR][1000 genomes]
rs72646350	0.87[EUR][1000 genomes]
rs7822371	0.96[EUR][1000 genomes]
rs7829543	0.87[EUR][1000 genomes]
rs7834901	0.96[EUR][1000 genomes]
rs7839055	0.96[EUR][1000 genomes]
rs9643810	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9650144	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028036	chr8:47531749-48256108	Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv1019289	chr8:47536056-48251883	Weak transcription Active TSS Strong transcription 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	37 gene(s)	inside rSNPs	diseases
3	nsv539591	chr8:47536056-48251883	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv1023786	chr8:48163412-48235252	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1031331	chr8:48163412-48239160	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1032993	chr8:48167423-48246277	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1030486	chr8:48167423-48247297	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	esv2758155	chr8:48188989-48321308	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv2759610	chr8:48188989-48321308	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv1817304	chr8:48205314-48321308	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv3381784	chr8:48223149-48232447	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48207400-48238200	Weak transcription	Aorta	Aorta
2	chr8:48207400-48258000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:48207600-48245600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr8:48207600-48248800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:48208400-48240000	Weak transcription	Placenta	Placenta
6	chr8:48208400-48243800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:48208800-48242400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:48209400-48266000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:48210000-48242800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:48210600-48243000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:48216200-48249600	Weak transcription	Ovary	ovary
12	chr8:48216200-48252400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:48216400-48232200	Weak transcription	Thymus	Thymus
14	chr8:48216800-48242600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:48222000-48243000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:48222400-48242800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:48222600-48236200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:48222600-48242600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr8:48222600-48242800	Weak transcription	Primary T cells from cord blood	blood
20	chr8:48222600-48243000	Weak transcription	HSMM	muscle
21	chr8:48222800-48234600	Weak transcription	Dnd41	blood
22	chr8:48222800-48243200	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:48223400-48242800	Weak transcription	Fetal Intestine Large	intestine
24	chr8:48223400-48252600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr8:48223600-48242000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:48223800-48242800	Weak transcription	GM12878-XiMat	blood
27	chr8:48224200-48232800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:48224400-48237200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr8:48224400-48237400	Weak transcription	Esophagus	oesophagus
30	chr8:48224400-48240800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr8:48224400-48243000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr8:48228000-48236000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr8:48228000-48243200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:48228000-48243400	Weak transcription	Liver	Liver
35	chr8:48228200-48242800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr8:48228200-48243400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr8:48228200-48243400	Weak transcription	Fetal Kidney	kidney
38	chr8:48228200-48246200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr8:48228200-48248800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr8:48228200-48251200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:48228200-48254400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:48228200-48256000	Weak transcription	Left Ventricle	heart
43	chr8:48228600-48235600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:48228600-48242800	Weak transcription	Fetal Lung	lung
45	chr8:48228600-48265800	Weak transcription	K562	blood
46	chr8:48229800-48237400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:48230000-48252400	Weak transcription	Lung	lung
48	chr8:48230200-48232200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:48230200-48235800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:48230200-48242000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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