Variant report

Variant	rs873102
Chromosome Location	chr14:25517972-25517973
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10142533	0.92[ASN][1000 genomes]
rs10143606	0.81[ASN][1000 genomes]
rs10147992	0.95[CHB][hapmap];1.00[CHD][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs11159034	0.83[CHB][hapmap];0.91[CHD][hapmap]
rs11159041	0.90[ASN][1000 genomes]
rs2004925	0.86[MKK][hapmap]
rs2038700	0.81[ASW][hapmap]
rs2332462	0.86[CHD][hapmap];0.86[MKK][hapmap]
rs6574126	0.85[CHD][hapmap];0.84[GIH][hapmap];0.88[MKK][hapmap]
rs7141943	0.83[CHD][hapmap];0.86[MKK][hapmap]
rs7147583	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7158626	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs729368	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8003236	0.93[ASN][1000 genomes]
rs8014755	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs912304	0.83[CHB][hapmap];0.91[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv901509	chr14:25398571-25743484	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv901510	chr14:25476170-25526309	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv901511	chr14:25505085-25588029	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv527684	chr14:25514126-25518326	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs873102	CHD8	cis	cerebellum	SCAN
rs873102	STXBP6	cis	parietal	SCAN
rs873102	RNF31	cis	parietal	SCAN
rs873102	REM2	cis	cerebellum	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25515800-25518200	Enhancers	K562	blood
2	chr14:25516000-25518000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:25517000-25518000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:25517000-25520000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:25517200-25519800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:25517200-25520000	Active TSS	Stomach Mucosa	stomach
7	chr14:25517200-25520200	Active TSS	NHLF	lung
8	chr14:25517200-25520400	Active TSS	Right Ventricle	heart
9	chr14:25517400-25518000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:25517400-25518000	Flanking Active TSS	NHDF-Ad	bronchial
11	chr14:25517400-25518200	Flanking Active TSS	HSMM	muscle
12	chr14:25517400-25518400	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr14:25517400-25518400	Flanking Active TSS	Fetal Heart	heart
14	chr14:25517400-25518800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr14:25517400-25520000	Active TSS	Left Ventricle	heart
16	chr14:25517400-25520000	Active TSS	Right Atrium	heart
17	chr14:25517400-25520200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr14:25517600-25518000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:25517600-25518000	Bivalent Enhancer	Brain Germinal Matrix	brain
20	chr14:25517600-25518000	Flanking Active TSS	Fetal Brain Female	brain
21	chr14:25517600-25518000	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr14:25517600-25518000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr14:25517600-25518000	Enhancers	Small Intestine	intestine
24	chr14:25517600-25518000	Flanking Active TSS	Osteobl	bone
25	chr14:25517600-25518200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:25517600-25518200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
27	chr14:25517600-25518200	Flanking Active TSS	Fetal Brain Male	brain
28	chr14:25517600-25518200	Bivalent/Poised TSS	Fetal Stomach	stomach
29	chr14:25517600-25518200	Active TSS	Psoas Muscle	Psoas
30	chr14:25517600-25518400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr14:25517600-25518400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr14:25517600-25518400	Flanking Active TSS	NHEK	skin
33	chr14:25517600-25518600	Flanking Active TSS	NH-A	brain
34	chr14:25517600-25518800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:25517600-25518800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
36	chr14:25517600-25519200	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr14:25517600-25519400	Active TSS	Lung	lung
38	chr14:25517600-25520000	Active TSS	Placenta	Placenta
39	chr14:25517600-25520000	Active TSS	Rectal Smooth Muscle	rectum
40	chr14:25517800-25518000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
41	chr14:25517800-25518000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:25517800-25518000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr14:25517800-25518000	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr14:25517800-25518000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:25517800-25518000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:25517800-25518000	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr14:25517800-25518000	Active TSS	Duodenum Mucosa	Duodenum
48	chr14:25517800-25518000	Active TSS	Fetal Intestine Large	intestine
49	chr14:25517800-25518000	Active TSS	Fetal Lung	lung
50	chr14:25517800-25518000	Flanking Active TSS	Fetal Muscle Trunk	muscle

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