Variant report

Variant	rs11206808
Chromosome Location	chr1:56904902-56904903
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11206807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122628	1.00[ASN][1000 genomes]
rs12137498	1.00[ASN][1000 genomes]
rs17406943	1.00[ASN][1000 genomes]
rs2780864	0.95[EUR][1000 genomes]
rs2780865	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35064883	1.00[ASN][1000 genomes]
rs4912172	1.00[ASN][1000 genomes]
rs4912275	1.00[ASN][1000 genomes]
rs4912305	1.00[ASN][1000 genomes]
rs56027745	1.00[ASN][1000 genomes]
rs72662266	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72662267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72662283	1.00[ASN][1000 genomes]
rs72662289	1.00[ASN][1000 genomes]
rs72662291	1.00[ASN][1000 genomes]
rs72662298	1.00[ASN][1000 genomes]
rs72664306	1.00[ASN][1000 genomes]
rs72664313	1.00[ASN][1000 genomes]
rs72664316	1.00[ASN][1000 genomes]
rs914836	0.93[EUR][1000 genomes]
rs914837	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9437005	1.00[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11206808	C1orf175	cis	parietal	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56897200-56906000	Enhancers	Brain Anterior Caudate	brain
2	chr1:56897200-56906000	Enhancers	Brain Cingulate Gyrus	brain
3	chr1:56897200-56906000	Enhancers	Brain Substantia Nigra	brain
4	chr1:56898000-56906400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:56899000-56905000	Weak transcription	Adipose Nuclei	Adipose
6	chr1:56899000-56906000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:56900200-56905600	Enhancers	Left Ventricle	heart
8	chr1:56900400-56906000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:56900400-56906400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:56900600-56905000	Weak transcription	Gastric	stomach
11	chr1:56900600-56912000	Weak transcription	Esophagus	oesophagus
12	chr1:56901800-56905400	Weak transcription	Fetal Thymus	thymus
13	chr1:56901800-56906000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr1:56902000-56905200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:56902000-56905600	Weak transcription	Primary B cells from cord blood	blood
16	chr1:56902000-56912200	Weak transcription	Lung	lung
17	chr1:56902200-56905400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr1:56902200-56911800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:56902400-56906200	Enhancers	Brain Hippocampus Middle	brain
20	chr1:56902400-56907200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr1:56903000-56905400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:56903000-56906400	Enhancers	HepG2	liver
23	chr1:56903200-56905600	Enhancers	Right Atrium	heart
24	chr1:56903200-56906000	Enhancers	Fetal Heart	heart
25	chr1:56903200-56906400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:56903200-56912000	Weak transcription	Fetal Lung	lung
27	chr1:56903600-56905000	Weak transcription	Placenta	Placenta
28	chr1:56903600-56905800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr1:56903800-56905000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:56904000-56905000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:56904000-56905400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:56904000-56905600	Weak transcription	Fetal Intestine Small	intestine
33	chr1:56904000-56906000	Enhancers	Psoas Muscle	Psoas
34	chr1:56904200-56905000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:56904200-56905000	Weak transcription	Spleen	Spleen
36	chr1:56904200-56905200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:56904200-56905200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:56904200-56905200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:56904200-56905200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:56904200-56905200	Weak transcription	Brain Angular Gyrus	brain
41	chr1:56904200-56905400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:56904200-56905400	Weak transcription	HUVEC	blood vessel
43	chr1:56904200-56912200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:56904400-56905800	Enhancers	Aorta	Aorta
45	chr1:56904800-56905200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:56904800-56905200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr1:56904800-56905600	Enhancers	Right Ventricle	heart
48	chr1:56904800-56906000	Enhancers	Liver	Liver
49	chr1:56904800-56906000	Enhancers	Fetal Muscle Leg	muscle

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