Variant report

Variant	rs10783408
Chromosome Location	chr12:51323087-51323088
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51317278..51319409-chr12:51321054..51323172,2	K562	blood:
2	chr12:51320296..51325528-chr12:51326081..51329757,6	K562	blood:
3	chr12:51322696..51325064-chr12:51325952..51327620,2	K562	blood:

Variant related genes	Relation type
ENSG00000185432	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10876121	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876123	0.82[ASN][1000 genomes]
rs12809226	0.91[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs12823317	0.85[ASN][1000 genomes]
rs149411	0.90[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];0.81[TSI][hapmap]
rs224575	0.91[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap]
rs2359187	0.87[ASN][1000 genomes]
rs2544019	0.88[ASN][1000 genomes]
rs319931	0.88[ASN][1000 genomes]
rs319936	0.91[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.81[TSI][hapmap];0.88[ASN][1000 genomes]
rs319939	0.91[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap];0.88[ASN][1000 genomes]
rs829017	0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10783408	LASS5	cis	parietal	SCAN
rs10783408	DDN	cis	cerebellum	SCAN

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51317600-51323200	Active TSS	Brain Substantia Nigra	brain
2	chr12:51319200-51326400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:51319400-51323400	Active TSS	Fetal Muscle Trunk	muscle
4	chr12:51319400-51323600	Enhancers	Dnd41	blood
5	chr12:51319400-51346200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:51319800-51323200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:51319800-51326200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr12:51320200-51330600	Weak transcription	Primary T cells from cord blood	blood
9	chr12:51320400-51323400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:51320400-51328600	Weak transcription	HSMM	muscle
11	chr12:51320600-51324000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
12	chr12:51320600-51327400	Weak transcription	Placenta	Placenta
13	chr12:51320600-51328200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:51321000-51323400	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr12:51321000-51325600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:51321200-51323200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:51321200-51323200	Active TSS	Fetal Muscle Leg	muscle
18	chr12:51321200-51323400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr12:51321400-51323400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr12:51321600-51323400	Flanking Active TSS	Liver	Liver
21	chr12:51321600-51323400	Flanking Active TSS	Thymus	Thymus
22	chr12:51321600-51325000	Weak transcription	Fetal Intestine Large	intestine
23	chr12:51321800-51323200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr12:51322000-51324800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr12:51322200-51323400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr12:51322200-51323400	Enhancers	Stomach Mucosa	stomach
27	chr12:51322200-51326400	Weak transcription	Hela-S3	cervix
28	chr12:51322200-51326600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:51322200-51327200	Weak transcription	Fetal Heart	heart
30	chr12:51322200-51327200	Weak transcription	NHDF-Ad	bronchial
31	chr12:51322200-51327400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:51322200-51327400	Weak transcription	HSMMtube	muscle
33	chr12:51322200-51332600	Weak transcription	Fetal Kidney	kidney
34	chr12:51322400-51323200	Enhancers	Primary hematopoietic stem cells	blood
35	chr12:51322400-51323200	Active TSS	Fetal Brain Female	brain
36	chr12:51322400-51323200	Strong transcription	NHLF	lung
37	chr12:51322400-51323400	Enhancers	Fetal Thymus	thymus
38	chr12:51322400-51323400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:51322400-51323600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:51322400-51323800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:51322400-51324400	Weak transcription	Right Ventricle	heart
42	chr12:51322400-51325000	Weak transcription	Brain Angular Gyrus	brain
43	chr12:51322400-51327200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:51322400-51327200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:51322400-51327200	Weak transcription	Esophagus	oesophagus
46	chr12:51322400-51327600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr12:51322400-51327800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr12:51322400-51329000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:51322600-51323200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr12:51322600-51323200	Active TSS	Brain Anterior Caudate	brain

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