Variant report

Variant	rs350241
Chromosome Location	chr16:12169851-12169852
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs350235	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs350244	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs350257	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8053242	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv977111	chr16:12161129-12220593	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers 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

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12117400-12183400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr16:12139400-12172600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr16:12142800-12189200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr16:12146000-12183400	Weak transcription	Fetal Intestine Large	intestine
5	chr16:12148000-12183400	Weak transcription	Fetal Lung	lung
6	chr16:12149800-12172600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr16:12153400-12177200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr16:12155400-12172400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr16:12155400-12172600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr16:12155600-12172400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr16:12155600-12172600	Weak transcription	Fetal Intestine Small	intestine
12	chr16:12156000-12185800	Weak transcription	Brain Germinal Matrix	brain
13	chr16:12156000-12185800	Weak transcription	Fetal Brain Female	brain
14	chr16:12156800-12173200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr16:12157000-12175800	Weak transcription	Fetal Kidney	kidney
16	chr16:12157000-12181600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr16:12157000-12181800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr16:12157200-12171800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr16:12157200-12172200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr16:12157200-12172600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr16:12157200-12172600	Weak transcription	Aorta	Aorta
22	chr16:12157200-12172600	Weak transcription	Brain Angular Gyrus	brain
23	chr16:12157200-12172800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr16:12157200-12172800	Weak transcription	Gastric	stomach
25	chr16:12157200-12173800	Weak transcription	Osteobl	bone
26	chr16:12157200-12183200	Weak transcription	NHLF	lung
27	chr16:12157200-12185800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr16:12157600-12172400	Weak transcription	Esophagus	oesophagus
29	chr16:12157600-12172400	Weak transcription	NHDF-Ad	bronchial
30	chr16:12157800-12172200	Weak transcription	Lung	lung
31	chr16:12157800-12172600	Weak transcription	Placenta	Placenta
32	chr16:12157800-12172600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr16:12157800-12174000	Weak transcription	Left Ventricle	heart
34	chr16:12157800-12181400	Weak transcription	Right Ventricle	heart
35	chr16:12157800-12185800	Weak transcription	HSMMtube	muscle
36	chr16:12159000-12172400	Weak transcription	Pancreas	Pancrea
37	chr16:12160600-12170400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr16:12160600-12174000	Weak transcription	Spleen	Spleen
39	chr16:12162200-12181400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr16:12163400-12172400	Weak transcription	Brain Hippocampus Middle	brain
41	chr16:12163400-12172800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr16:12163600-12170000	Weak transcription	Primary B cells from cord blood	blood
43	chr16:12163600-12170800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr16:12163600-12170800	Weak transcription	Fetal Muscle Leg	muscle
45	chr16:12163600-12171000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr16:12163600-12172200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr16:12163600-12172400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr16:12163600-12172400	Weak transcription	GM12878-XiMat	blood
49	chr16:12163600-12172600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr16:12163600-12172600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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