Variant report

Variant	rs8000300
Chromosome Location	chr13:49926227-49926228
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr13:49925966-49926477	SK-N-SH	brain:	n/a	chr13:49926445-49926454
2	GATA3	chr13:49925872-49926482	SK-N-SH	brain:	n/a	n/a
3	MAFK	chr13:49925881-49926480	IMR90	lung:	n/a	n/a
4	PBX3	chr13:49925974-49926662	SK-N-SH	brain:	n/a	n/a
5	TCF12	chr13:49925886-49926720	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr13:49925738-49926566	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr13:49925948-49926693	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
CAB39L	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11618853	0.84[ASN][1000 genomes]
rs11618854	0.84[ASN][1000 genomes]
rs12716690	0.83[ASN][1000 genomes]
rs13378622	0.83[ASN][1000 genomes]
rs13378689	0.93[CHB][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs13378690	0.93[CHB][hapmap];0.88[CHD][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs13378954	0.83[ASN][1000 genomes]
rs2146395	0.83[ASN][1000 genomes]
rs2146396	0.83[ASN][1000 genomes]
rs2181327	0.83[ASN][1000 genomes]
rs4941638	0.80[CHD][hapmap];0.80[JPT][hapmap]
rs4942820	0.81[ASN][1000 genomes]
rs4942821	0.84[ASN][1000 genomes]
rs4942822	0.84[ASN][1000 genomes]
rs4942823	0.83[ASN][1000 genomes]
rs4942826	0.93[CHB][hapmap];0.83[ASN][1000 genomes]
rs4942827	0.83[ASN][1000 genomes]
rs56232559	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67549843	0.80[ASN][1000 genomes]
rs730924	1.00[CHB][hapmap];0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs7317630	0.83[ASN][1000 genomes]
rs7318456	1.00[CHB][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs7318882	0.80[ASN][1000 genomes]
rs7319116	0.84[ASN][1000 genomes]
rs7321193	0.83[ASN][1000 genomes]
rs7332728	0.81[ASN][1000 genomes]
rs7334803	0.84[ASN][1000 genomes]
rs7335750	0.83[ASN][1000 genomes]
rs7335926	0.82[CHB][hapmap]
rs7335977	0.83[ASN][1000 genomes]
rs7336096	0.83[ASN][1000 genomes]
rs7336829	1.00[CHB][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs7338684	0.93[CHB][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs7989461	0.84[ASN][1000 genomes]
rs7998955	0.88[ASN][1000 genomes]
rs8002153	0.83[ASN][1000 genomes]
rs8002829	1.00[CHB][hapmap];0.88[CHD][hapmap];0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs8002858	0.84[ASN][1000 genomes]
rs9526551	0.83[ASN][1000 genomes]
rs9535215	0.84[ASN][1000 genomes]
rs9535216	0.83[ASN][1000 genomes]
rs9535219	0.93[CHB][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs9535220	0.93[CHB][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs9535221	0.85[CHB][hapmap]
rs9535222	0.93[CHB][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs9596084	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9596085	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9596086	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs9596090	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS 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 target site	42 gene(s)	inside rSNPs	diseases
2	nsv900069	chr13:49815405-49976393	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv430558	chr13:49914393-50059354	Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1037	chr13:49919578-49926725	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8000300	CDADC1	cis	cerebellar cortex	BrainEAC

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49876200-49935600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr13:49884600-49933600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr13:49885600-49933400	Weak transcription	Primary T cells from cord blood	blood
4	chr13:49889000-49944600	Weak transcription	Brain Angular Gyrus	brain
5	chr13:49889000-49947600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr13:49889200-49933400	Weak transcription	Brain Anterior Caudate	brain
7	chr13:49889200-49944600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr13:49889600-49927400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:49895000-49927600	Weak transcription	NHLF	lung
10	chr13:49895600-49933200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr13:49895800-49935600	Weak transcription	Esophagus	oesophagus
12	chr13:49902800-49927600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr13:49904400-49929200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr13:49904400-49929400	Weak transcription	Fetal Brain Female	brain
15	chr13:49904600-49930800	Weak transcription	Aorta	Aorta
16	chr13:49912600-49948800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr13:49913200-49932600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr13:49915000-49929000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr13:49915000-49941400	Weak transcription	Brain Hippocampus Middle	brain
20	chr13:49918000-49930000	Weak transcription	Osteobl	bone
21	chr13:49918200-49928000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:49918200-49928800	Weak transcription	Adipose Nuclei	Adipose
23	chr13:49922200-49937600	Weak transcription	Fetal Brain Male	brain
24	chr13:49922200-49937600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr13:49922400-49931800	Weak transcription	Left Ventricle	heart
26	chr13:49922400-49940800	Weak transcription	Lung	lung
27	chr13:49922400-49946600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr13:49922400-49947800	Weak transcription	Right Ventricle	heart
29	chr13:49922800-49951400	Weak transcription	Gastric	stomach
30	chr13:49923000-49926400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr13:49923000-49935000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr13:49923200-49928600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr13:49923200-49929200	Weak transcription	Ovary	ovary
34	chr13:49923200-49930400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:49923200-49934800	Weak transcription	Fetal Stomach	stomach
36	chr13:49923200-49935000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:49923200-49937800	Weak transcription	Primary B cells from cord blood	blood
38	chr13:49923200-49951200	Weak transcription	Pancreas	Pancrea
39	chr13:49923400-49929000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr13:49925000-49930800	Weak transcription	Colon Smooth Muscle	Colon
41	chr13:49925000-49930800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr13:49925200-49926600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr13:49925200-49926600	Enhancers	NH-A	brain
44	chr13:49925600-49926800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr13:49925600-49927800	Enhancers	NHDF-Ad	bronchial
46	chr13:49925600-49929000	Weak transcription	Fetal Heart	heart
47	chr13:49925800-49926400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr13:49925800-49928600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr13:49926000-49927400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr13:49926000-49928800	Weak transcription	HSMM	muscle

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