Variant report

Variant	rs3746882
Chromosome Location	chr21:40182177-40182178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40181085..40183143-chr21:40216302..40218892,2	K562	blood:
2	chr21:40181532..40184339-chr21:40284437..40287872,3	K562	blood:
3	chr21:40182020..40183725-chr21:40549111..40551319,2	K562	blood:

Variant related genes	Relation type
ENSG00000183527	Chromatin interaction
ENSG00000234035	Chromatin interaction
ENSG00000229986	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2836822	1.00[LWK][hapmap]
rs2836823	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058591	chr21:40114130-40190594	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3746882	DSCAM	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40176800-40182800	Active TSS	Brain Cingulate Gyrus	brain
2	chr21:40176800-40182800	Active TSS	Brain Hippocampus Middle	brain
3	chr21:40177200-40182400	Active TSS	Lung	lung
4	chr21:40177600-40182200	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr21:40178600-40182800	Transcr. at gene 5' and 3'	NHEK	skin
6	chr21:40179000-40182800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
7	chr21:40179000-40184000	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr21:40179000-40184800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr21:40179200-40184600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr21:40179600-40182200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr21:40179600-40182400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr21:40179600-40182600	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
13	chr21:40179600-40182600	Weak transcription	Osteobl	bone
14	chr21:40179600-40183000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr21:40179600-40183600	Transcr. at gene 5' and 3'	A549	lung
16	chr21:40179600-40184800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr21:40179600-40184800	Weak transcription	HSMMtube	muscle
18	chr21:40179800-40182800	Transcr. at gene 5' and 3'	Hela-S3	cervix
19	chr21:40179800-40183000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr21:40179800-40183400	Transcr. at gene 5' and 3'	Liver	Liver
21	chr21:40179800-40185200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr21:40180000-40182200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
23	chr21:40180000-40182800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr21:40180000-40183000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr21:40180000-40183000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
26	chr21:40180000-40183000	Transcr. at gene 5' and 3'	NHLF	lung
27	chr21:40180000-40184800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr21:40180000-40185000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr21:40180000-40186200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr21:40180200-40183400	Active TSS	Right Atrium	heart
31	chr21:40180200-40183600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr21:40180200-40183800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr21:40180200-40185800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr21:40180200-40186200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr21:40180200-40198400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr21:40180400-40182200	Active TSS	Rectal Smooth Muscle	rectum
37	chr21:40180400-40182400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr21:40180400-40182800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr21:40180400-40182800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr21:40180400-40182800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr21:40180400-40183200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr21:40180400-40184600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr21:40180400-40184800	Weak transcription	Ovary	ovary
44	chr21:40180400-40186400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr21:40180400-40186400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr21:40180400-40186600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr21:40180600-40182200	Genic enhancers	Fetal Stomach	stomach
48	chr21:40180600-40183400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr21:40180600-40184400	Weak transcription	Pancreas	Pancrea
50	chr21:40180600-40185000	Weak transcription	Thymus	Thymus

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