Variant report

Variant	rs10168778
Chromosome Location	chr2:37798627-37798628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37796095..37797959-chr2:37798225..37800388,2	K562	blood:
2	chr2:37785013..37788185-chr2:37797266..37800761,3	K562	blood:
3	chr2:37791325..37795155-chr2:37795900..37799036,5	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10173816	0.90[EUR][1000 genomes]
rs10176881	0.83[EUR][1000 genomes]
rs10181174	0.94[EUR][1000 genomes]
rs10184801	0.82[EUR][1000 genomes]
rs10197948	0.83[EUR][1000 genomes]
rs10208172	0.82[EUR][1000 genomes]
rs11124590	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11124592	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687796	0.83[EUR][1000 genomes]
rs11887848	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11888402	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11895388	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12612951	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12615363	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34752978	0.90[EUR][1000 genomes]
rs35422160	0.83[EUR][1000 genomes]
rs35574342	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35617918	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4670208	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4670730	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6544093	0.83[EUR][1000 genomes]
rs6708088	0.90[EUR][1000 genomes]
rs6710371	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6712065	0.83[EUR][1000 genomes]
rs6730320	0.83[EUR][1000 genomes]
rs6733496	0.83[EUR][1000 genomes]
rs6747152	0.83[EUR][1000 genomes]
rs740992	0.90[EUR][1000 genomes]
rs7557304	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7560890	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7564992	0.81[EUR][1000 genomes]
rs7587009	0.83[EUR][1000 genomes]
rs765372	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833814	chr2:37643132-37840247	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv456374	chr2:37669487-37868214	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv470453	chr2:37669487-37868214	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv581473	chr2:37669487-37868214	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2757793	chr2:37796654-38138939	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2759043	chr2:37796654-38138939	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10168778	CDC42EP3	cis	parietal	SCAN
rs10168778	PRKD3	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37792800-37799600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:37795600-37799200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr2:37796200-37798800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:37796200-37801200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:37796200-37801600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:37796400-37799200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:37796400-37800200	Enhancers	Fetal Brain Male	brain
8	chr2:37796400-37801000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:37796400-37801600	Enhancers	NH-A	brain
10	chr2:37796400-37801800	Enhancers	Osteobl	bone
11	chr2:37796400-37809600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:37796600-37798800	Weak transcription	Left Ventricle	heart
13	chr2:37796600-37799200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:37796600-37799200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr2:37796600-37810200	Weak transcription	Pancreas	Pancrea
16	chr2:37796800-37801000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:37797000-37799000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:37797000-37799200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:37797200-37799400	Enhancers	HSMM	muscle
20	chr2:37797200-37801400	Weak transcription	Aorta	Aorta
21	chr2:37797400-37798800	Enhancers	HMEC	breast
22	chr2:37797400-37799800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr2:37797600-37799600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:37797800-37798800	Enhancers	Stomach Smooth Muscle	stomach
25	chr2:37797800-37799200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:37797800-37799200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:37797800-37799200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr2:37798000-37798800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:37798000-37798800	Enhancers	Fetal Brain Female	brain
30	chr2:37798200-37799000	Enhancers	Fetal Stomach	stomach
31	chr2:37798200-37799400	Enhancers	Colon Smooth Muscle	Colon
32	chr2:37798200-37801600	Enhancers	NHDF-Ad	bronchial
33	chr2:37798400-37799800	Flanking Active TSS	GM12878-XiMat	blood
34	chr2:37798400-37801000	Weak transcription	Fetal Lung	lung
35	chr2:37798400-37804200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:37798600-37799000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:37798600-37799000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:37798600-37799200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:37798600-37799200	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:37798600-37799200	Enhancers	HSMMtube	muscle
41	chr2:37798600-37799600	Enhancers	NHLF	lung
42	chr2:37798600-37800200	Weak transcription	Hela-S3	cervix
43	chr2:37798600-37800400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:37798600-37800400	Weak transcription	NHEK	skin
45	chr2:37798600-37800600	Weak transcription	A549	lung
46	chr2:37798600-37801000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:37798600-37806400	Weak transcription	K562	blood

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