Variant report

Variant	rs1866634
Chromosome Location	chr2:174025601-174025602
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10181133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182247	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs10198981	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.81[EUR][1000 genomes]
rs10497401	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs11249	0.85[CHB][hapmap]
rs11677913	0.87[YRI][hapmap]
rs11887008	0.85[CHB][hapmap]
rs11897681	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13008554	0.92[CEU][hapmap]
rs13034748	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13035366	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13313780	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13385996	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13430550	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13430650	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1371573	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1439977	0.91[YRI][hapmap]
rs16861393	0.85[CHB][hapmap]
rs16861404	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs2289396	0.87[YRI][hapmap]
rs2358087	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3754740	0.93[ASN][1000 genomes]
rs3769165	0.89[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes]
rs3769174	0.89[CEU][hapmap];0.86[CHB][hapmap];0.96[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3769177	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4972399	0.85[CHB][hapmap]
rs4972535	0.84[CEU][hapmap];0.95[YRI][hapmap];0.86[EUR][1000 genomes]
rs4972536	0.88[YRI][hapmap]
rs6734666	0.96[YRI][hapmap]
rs7566372	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1866634	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174012800-174026600	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr2:174015400-174027400	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:174015400-174047000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:174016200-174048800	Weak transcription	K562	blood
5	chr2:174016400-174028200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:174021600-174027000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:174021600-174027800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:174021600-174030400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:174021800-174026400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:174022000-174027800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:174022400-174026400	Enhancers	NHEK	skin
12	chr2:174022400-174026600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:174022400-174026600	Enhancers	HMEC	breast
14	chr2:174023800-174026600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:174024000-174026600	Enhancers	Osteobl	bone
16	chr2:174024200-174025800	Enhancers	Lung	lung
17	chr2:174024200-174025800	Enhancers	Ovary	ovary
18	chr2:174024200-174025800	Enhancers	HSMM	muscle
19	chr2:174024200-174026000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:174024200-174026200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:174024200-174026200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:174024200-174026600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr2:174024200-174026600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:174024200-174026600	Enhancers	Adipose Nuclei	Adipose
25	chr2:174024200-174026600	Enhancers	Liver	Liver
26	chr2:174024200-174026600	Enhancers	Fetal Heart	heart
27	chr2:174024400-174025800	Flanking Active TSS	A549	lung
28	chr2:174024400-174026000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:174024400-174026000	Enhancers	NH-A	brain
30	chr2:174024400-174026400	Enhancers	Colon Smooth Muscle	Colon
31	chr2:174024400-174026400	Enhancers	Stomach Smooth Muscle	stomach
32	chr2:174024600-174025800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:174024800-174025800	Active TSS	Primary B cells from cord blood	blood
34	chr2:174024800-174025800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr2:174024800-174025800	Weak transcription	Gastric	stomach
36	chr2:174024800-174026000	Flanking Active TSS	NHLF	lung
37	chr2:174024800-174026200	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr2:174024800-174026400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:174024800-174037200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr2:174025000-174026400	Enhancers	Duodenum Mucosa	Duodenum
41	chr2:174025000-174026600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:174025000-174028000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:174025200-174025800	Enhancers	Placenta	Placenta
44	chr2:174025200-174026000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:174025200-174026000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:174025200-174026000	Enhancers	Pancreas	Pancrea
47	chr2:174025200-174026000	Enhancers	Right Atrium	heart
48	chr2:174025200-174026000	Flanking Active TSS	Hela-S3	cervix
49	chr2:174025200-174026600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:174025200-174029200	Weak transcription	HUVEC	blood vessel

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