Variant report

Variant	rs3754745
Chromosome Location	chr2:174001908-174001909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173996961..173999501-chr2:174001497..174003387,2	K562	blood:
2	chr2:173938869..173942300-chr2:173999393..174002549,3	K562	blood:
3	chr2:174001713..174004612-chr2:174011601..174013779,2	K562	blood:
4	chr2:173984313..173986145-chr2:174000208..174002832,2	K562	blood:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10211033	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10930577	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10930578	0.94[ASN][1000 genomes]
rs11679192	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692252	0.88[JPT][hapmap]
rs11885351	0.94[ASN][1000 genomes]
rs11901217	0.80[ASN][1000 genomes]
rs13407319	0.85[ASN][1000 genomes]
rs17760899	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2034647	0.92[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.87[TSI][hapmap]
rs2358084	0.81[CEU][hapmap];0.94[CHD][hapmap];0.88[JPT][hapmap]
rs35464261	0.94[ASN][1000 genomes]
rs3754748	0.88[CHD][hapmap];0.88[JPT][hapmap]
rs3769207	0.85[EUR][1000 genomes]
rs4972530	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6727541	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6733082	0.83[EUR][1000 genomes]
rs6735275	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6746656	0.82[CEU][hapmap];0.82[CHB][hapmap];0.83[TSI][hapmap]
rs6758859	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6759787	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7575189	0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs7604338	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7608532	0.88[JPT][hapmap]
rs9636294	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]
rs989531	0.82[CHB][hapmap];0.94[CHD][hapmap];0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3754745	ZAK	Cis_1M	lymphoblastoid	RTeQTL
rs3754745	METTL8	cis	parietal	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173974400-174005200	Weak transcription	Fetal Intestine Small	intestine
2	chr2:173982800-174006400	Weak transcription	Fetal Lung	lung
3	chr2:173988200-174004600	Weak transcription	Fetal Intestine Large	intestine
4	chr2:173989200-174006000	Weak transcription	Primary B cells from cord blood	blood
5	chr2:173989600-174003800	Weak transcription	Right Ventricle	heart
6	chr2:173989600-174007600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:173991800-174005200	Weak transcription	K562	blood
8	chr2:173996600-174012800	Weak transcription	Ovary	ovary
9	chr2:173996600-174013400	Weak transcription	Aorta	Aorta
10	chr2:173997400-174003400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:173998800-174002800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:173999200-174002000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr2:173999200-174002200	Enhancers	Dnd41	blood
14	chr2:173999400-174002000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:173999400-174002200	Enhancers	HMEC	breast
16	chr2:173999400-174003000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:173999600-174002000	Enhancers	NHLF	lung
18	chr2:174000200-174002000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:174000400-174002000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:174000600-174002000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:174000800-174002000	Enhancers	Primary hematopoietic stem cells	blood
22	chr2:174000800-174002200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:174000800-174002200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr2:174000800-174002200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:174000800-174002200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:174000800-174002400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr2:174000800-174002600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:174000800-174002800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:174001000-174002000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr2:174001000-174002000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:174001000-174002200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr2:174001000-174002600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:174001200-174002200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:174001200-174002200	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr2:174001200-174002200	Enhancers	Fetal Brain Male	brain
36	chr2:174001200-174003000	Enhancers	GM12878-XiMat	blood
37	chr2:174001200-174005400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:174001400-174002200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:174001400-174002200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:174001400-174002200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:174001400-174002200	Enhancers	Fetal Brain Female	brain
42	chr2:174001400-174002600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:174001400-174002600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr2:174001400-174002600	Enhancers	NHDF-Ad	bronchial
45	chr2:174001400-174005200	Weak transcription	A549	lung
46	chr2:174001600-174002200	Enhancers	NHEK	skin
47	chr2:174001600-174002400	Enhancers	Primary T cells from cord blood	blood
48	chr2:174001600-174003200	Weak transcription	Fetal Heart	heart
49	chr2:174001600-174006000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:174001600-174012800	Weak transcription	Left Ventricle	heart

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