Variant report

Variant	rs7205668
Chromosome Location	chr16:46666942-46666943
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10468399	1.00[ASN][1000 genomes]
rs1651654	1.00[ASN][1000 genomes]
rs166161	1.00[ASN][1000 genomes]
rs16948661	1.00[ASN][1000 genomes]
rs17189741	1.00[ASN][1000 genomes]
rs17792604	1.00[ASN][1000 genomes]
rs183672	1.00[ASN][1000 genomes]
rs2341041	1.00[ASN][1000 genomes]
rs252721	1.00[ASN][1000 genomes]
rs252722	1.00[ASN][1000 genomes]
rs28174	1.00[ASN][1000 genomes]
rs28184	1.00[ASN][1000 genomes]
rs28485103	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35444809	1.00[ASN][1000 genomes]
rs36310	1.00[ASN][1000 genomes]
rs36312	1.00[ASN][1000 genomes]
rs36462	1.00[ASN][1000 genomes]
rs36464	1.00[ASN][1000 genomes]
rs36471	1.00[ASN][1000 genomes]
rs36476	1.00[ASN][1000 genomes]
rs36481	1.00[ASN][1000 genomes]
rs36483	1.00[ASN][1000 genomes]
rs40163	1.00[ASN][1000 genomes]
rs40355	1.00[ASN][1000 genomes]
rs41187	1.00[ASN][1000 genomes]
rs4141491	1.00[ASN][1000 genomes]
rs415018	1.00[ASN][1000 genomes]
rs420865	1.00[ASN][1000 genomes]
rs4401068	1.00[ASN][1000 genomes]
rs4887592	1.00[ASN][1000 genomes]
rs4966606	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4966616	0.83[AMR][1000 genomes]
rs4967393	1.00[ASN][1000 genomes]
rs59064826	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60500837	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66508669	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66804065	1.00[ASN][1000 genomes]
rs67205347	1.00[ASN][1000 genomes]
rs67506574	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67611436	1.00[ASN][1000 genomes]
rs67789219	1.00[ASN][1000 genomes]
rs68074363	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs698418	1.00[ASN][1000 genomes]
rs700582	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712816	1.00[ASN][1000 genomes]
rs7186662	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7187475	1.00[ASN][1000 genomes]
rs7190713	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197033	1.00[ASN][1000 genomes]
rs7198951	1.00[ASN][1000 genomes]
rs72814883	1.00[ASN][1000 genomes]
rs72816835	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816877	1.00[ASN][1000 genomes]
rs794279	1.00[ASN][1000 genomes]
rs8044684	1.00[ASN][1000 genomes]
rs8045353	1.00[ASN][1000 genomes]
rs8046748	1.00[ASN][1000 genomes]
rs8051017	1.00[ASN][1000 genomes]
rs808434	1.00[ASN][1000 genomes]
rs808780	1.00[ASN][1000 genomes]
rs808783	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799780	chr16:46386457-46875496	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv917899	chr16:46463769-46669332	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1066221	chr16:46463770-46699143	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1060734	chr16:46463770-46768102	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1064289	chr16:46463770-46801977	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	esv1815153	chr16:46474763-46672206	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	esv1797185	chr16:46489836-46731413	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
11	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
12	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
13	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
14	nsv833216	chr16:46501297-46671860	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
15	nsv916976	chr16:46505597-46801868	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
16	nsv526656	chr16:46539392-46846663	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
17	nsv428327	chr16:46556968-46718490	Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7205668	LOC388272	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46655600-46672600	Weak transcription	Esophagus	oesophagus
2	chr16:46655600-46694200	Weak transcription	Right Ventricle	heart
3	chr16:46659200-46672200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr16:46663600-46667200	Weak transcription	Fetal Brain Female	brain
5	chr16:46664000-46668600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr16:46664000-46682800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr16:46664200-46667000	Weak transcription	Fetal Muscle Leg	muscle
8	chr16:46664200-46672000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:46664200-46683000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr16:46665600-46667400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:46666000-46667200	Active TSS	GM12878-XiMat	blood
12	chr16:46666200-46667000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr16:46666200-46667000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr16:46666200-46667000	Flanking Bivalent TSS/Enh	HepG2	liver
15	chr16:46666200-46667400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr16:46666200-46667600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr16:46666400-46667000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr16:46666400-46667400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr16:46666400-46667600	Enhancers	Placenta	Placenta
20	chr16:46666400-46667800	Active TSS	H9 Cell Line	embryonic stem cell
21	chr16:46666600-46667000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:46666600-46667400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr16:46666600-46667400	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr16:46666600-46667400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr16:46666600-46667600	Active TSS	H1 Cell Line	embryonic stem cell
26	chr16:46666600-46668000	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr16:46666800-46667000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr16:46666800-46667200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:46666800-46667200	Active TSS	K562	blood
30	chr16:46666800-46667400	Enhancers	Fetal Muscle Trunk	muscle
31	chr16:46666800-46667600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:46666800-46667600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr16:46666800-46667800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr16:46666800-46667800	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr16:46666800-46668800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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