Variant report

Variant	rs7991818
Chromosome Location	chr13:51210380-51210381
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1341635	0.89[EUR][1000 genomes]
rs17383141	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17383309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71436234	0.87[EUR][1000 genomes]

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	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
2	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753864	chr13:51136699-51375199	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1045733	chr13:51187575-51217464	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7991818	CDADC1	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51191600-51210800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:51206200-51211200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr13:51207600-51211200	Enhancers	Primary B cells from cord blood	blood
4	chr13:51207800-51210400	Weak transcription	Dnd41	blood
5	chr13:51208600-51211200	Enhancers	Primary B cells from peripheral blood	blood
6	chr13:51209000-51211000	Enhancers	Primary hematopoietic stem cells	blood
7	chr13:51209200-51210800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:51209200-51211000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:51209400-51210600	Enhancers	Adipose Nuclei	Adipose
10	chr13:51209600-51210400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr13:51209600-51210800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:51209600-51211200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr13:51209800-51210400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr13:51209800-51210400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr13:51209800-51210400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr13:51209800-51210400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr13:51209800-51210400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr13:51209800-51210400	Enhancers	Fetal Lung	lung
19	chr13:51209800-51210600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr13:51209800-51210600	Enhancers	Fetal Intestine Small	intestine
21	chr13:51209800-51210800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:51209800-51210800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr13:51209800-51210800	Enhancers	Fetal Thymus	thymus
24	chr13:51209800-51211000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:51209800-51211000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:51210000-51210400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr13:51210000-51210400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr13:51210000-51210400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr13:51210200-51210400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr13:51210200-51210600	Enhancers	Fetal Intestine Large	intestine
31	chr13:51210200-51210800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr13:51210200-51210800	Enhancers	Placenta	Placenta
33	chr13:51210200-51210800	Enhancers	Left Ventricle	heart
34	chr13:51210200-51211000	Enhancers	Brain Substantia Nigra	brain
35	chr13:51210200-51211000	Enhancers	GM12878-XiMat	blood

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