Variant report

Variant	rs9636294
Chromosome Location	chr2:173954787-173954788
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	EP300	chr2:173954746-173955155	GM12878	blood:	n/a	n/a
2	EP300	chr2:173954728-173956491	K562	blood:	n/a	chr2:173955586-173955600 chr2:173955703-173955717

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173954282..173955862-chr2:174218772..174221164,2	K562	blood:

Variant related genes	Relation type
ENSG00000091436	TF binding region
ENSG00000144354	Chromatin interaction
ENSG00000236391	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10180382	0.86[ASN][1000 genomes]
rs10930577	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs11679192	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11681384	0.86[ASN][1000 genomes]
rs11692252	0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs1545516	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17760899	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2034647	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2044515	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2358084	0.85[CEU][hapmap];0.83[CHB][hapmap];0.94[CHD][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3754745	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3754748	0.83[CHB][hapmap];0.88[CHD][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs3769207	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4972530	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6718374	0.86[ASN][1000 genomes]
rs6727541	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6733082	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6735275	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs6746656	0.85[CEU][hapmap];0.91[CHB][hapmap];0.82[GIH][hapmap];0.83[TSI][hapmap]
rs6758859	0.87[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6759787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7558132	0.86[ASN][1000 genomes]
rs7558553	0.86[ASN][1000 genomes]
rs7575189	0.81[CEU][hapmap];0.87[TSI][hapmap]
rs7604338	0.86[ASN][1000 genomes]
rs7608532	0.83[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs989531	0.91[CHB][hapmap];0.94[CHD][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs989532	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs990416	0.86[ASN][1000 genomes]
rs990417	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9636294	METTL8	cis	parietal	SCAN

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173941600-173955200	Weak transcription	Lung	lung
2	chr2:173941600-173955200	Weak transcription	Pancreas	Pancrea
3	chr2:173941600-173969600	Weak transcription	Spleen	Spleen
4	chr2:173941800-173955200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:173941800-173955200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:173942000-173955200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:173942000-173955400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:173942000-173956000	Weak transcription	Fetal Thymus	thymus
9	chr2:173942600-173956400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:173942800-173954800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr2:173942800-173955800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:173942800-173964600	Weak transcription	HUVEC	blood vessel
13	chr2:173942800-173971400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:173943000-173971200	Weak transcription	HSMMtube	muscle
15	chr2:173943200-173955000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:173943400-173955200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:173943400-173955200	Weak transcription	Dnd41	blood
18	chr2:173943400-173974200	Weak transcription	Fetal Intestine Large	intestine
19	chr2:173943800-173956000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:173945400-173991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:173947000-173955200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:173947600-173955000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:173947600-173955200	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:173947600-173955200	Weak transcription	Gastric	stomach
25	chr2:173947600-173955200	Weak transcription	Right Atrium	heart
26	chr2:173948800-173955400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:173951200-173955000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:173951200-173955200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr2:173951400-173957400	Weak transcription	Small Intestine	intestine
30	chr2:173951400-173962000	Weak transcription	Brain Substantia Nigra	brain
31	chr2:173951600-173955000	Weak transcription	Fetal Stomach	stomach
32	chr2:173951600-173955200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:173951600-173955200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:173951600-173955200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr2:173951600-173955200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:173952000-173954800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:173952000-173955200	Weak transcription	Aorta	Aorta
38	chr2:173952000-173957600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:173952000-173973400	Weak transcription	Hela-S3	cervix
40	chr2:173952200-173954800	Weak transcription	HMEC	breast
41	chr2:173952200-173954800	Weak transcription	NHEK	skin
42	chr2:173952200-173955000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:173952200-173955200	Weak transcription	Adipose Nuclei	Adipose
44	chr2:173952200-173955200	Weak transcription	Esophagus	oesophagus
45	chr2:173952200-173955200	Weak transcription	Ovary	ovary
46	chr2:173952200-173955200	Enhancers	Stomach Smooth Muscle	stomach
47	chr2:173952200-173955200	Weak transcription	HSMM	muscle
48	chr2:173952200-173955800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:173952200-173955800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:173952200-173971400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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