Variant report

Variant	rs2000666
Chromosome Location	chr18:13120383-13120384
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12957380	0.80[CEU][hapmap]
rs1787013	0.84[CEU][hapmap];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2509751	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs475438	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs476191	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs487399	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs513897	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs516572	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs544011	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs547033	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs571002	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs571218	0.92[ASN][1000 genomes]
rs693301	0.84[CEU][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7228684	0.80[CEU][hapmap]
rs878484	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv833591	chr18:13093777-13253748	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2000666	CEP192	cis	Esophagus Muscularis	GTEx
rs2000666	CEP192	cis	Thyroid	GTEx
rs2000666	CEP192	cis	Artery Tibial	GTEx
rs2000666	CEP192	cis	lung	GTEx
rs2000666	CEP192	Cis_1M	lymphoblastoid	RTeQTL
rs2000666	CEP192	cis	Nerve Tibial	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13086400-13128000	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr18:13089400-13122200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr18:13098800-13121200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr18:13099200-13124800	Strong transcription	Fetal Thymus	thymus
5	chr18:13099200-13127800	Strong transcription	Dnd41	blood
6	chr18:13099200-13128200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr18:13099400-13129400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr18:13106200-13130000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr18:13106800-13135400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr18:13107000-13130400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:13107800-13121000	Weak transcription	Brain Substantia Nigra	brain
12	chr18:13109400-13120800	Weak transcription	Fetal Kidney	kidney
13	chr18:13109600-13126600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr18:13110400-13122400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr18:13110800-13121200	Strong transcription	Primary B cells from cord blood	blood
16	chr18:13111800-13122000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr18:13112000-13122800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr18:13112200-13125600	Weak transcription	Fetal Brain Female	brain
19	chr18:13113200-13120600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr18:13113400-13120800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr18:13113400-13121400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr18:13113400-13122000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr18:13113600-13120400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:13113800-13121200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr18:13114000-13120800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr18:13114000-13121000	Strong transcription	Placenta	Placenta
27	chr18:13114200-13122000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr18:13115000-13121600	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr18:13115600-13125400	Weak transcription	Colon Smooth Muscle	Colon
30	chr18:13116200-13120800	Weak transcription	Brain Hippocampus Middle	brain
31	chr18:13116200-13120800	Weak transcription	NHEK	skin
32	chr18:13116200-13126200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr18:13116200-13126800	Weak transcription	Esophagus	oesophagus
34	chr18:13116200-13128800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr18:13116200-13130000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr18:13117400-13121400	Strong transcription	Hela-S3	cervix
37	chr18:13117400-13121800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr18:13117600-13121600	Strong transcription	K562	blood
39	chr18:13117600-13121800	Strong transcription	GM12878-XiMat	blood
40	chr18:13118000-13121200	Weak transcription	Fetal Intestine Small	intestine
41	chr18:13118000-13121800	Weak transcription	Gastric	stomach
42	chr18:13118000-13126400	Weak transcription	Pancreas	Pancrea
43	chr18:13118000-13126400	Weak transcription	Right Ventricle	heart
44	chr18:13118000-13126800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr18:13118000-13126800	Weak transcription	Aorta	Aorta
46	chr18:13118000-13130000	Weak transcription	Small Intestine	intestine
47	chr18:13118200-13121000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr18:13118200-13121200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr18:13118200-13126800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr18:13118200-13132600	Weak transcription	HepG2	liver

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