Variant report

Variant	rs420865
Chromosome Location	chr16:46734077-46734078
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:46732635..46735109-chr16:46739940..46743405,3	K562	blood:
2	chr16:46732778..46734710-chr16:46734762..46736460,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10468399	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1651654	1.00[ASN][1000 genomes]
rs166161	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948661	1.00[ASN][1000 genomes]
rs17189741	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17792604	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs183672	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341041	1.00[ASN][1000 genomes]
rs252721	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs252722	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28174	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28184	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28485103	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35444809	1.00[ASN][1000 genomes]
rs36310	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36312	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36462	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36464	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36471	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36472	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36476	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36481	1.00[ASN][1000 genomes]
rs36483	1.00[ASN][1000 genomes]
rs40163	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40355	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41187	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4141491	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs415018	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42461	0.84[EUR][1000 genomes]
rs4401068	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887592	1.00[ASN][1000 genomes]
rs4966606	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4966616	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4967393	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59064826	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60500837	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66508669	1.00[ASN][1000 genomes]
rs66804065	1.00[ASN][1000 genomes]
rs67205347	1.00[ASN][1000 genomes]
rs67506574	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67611436	1.00[ASN][1000 genomes]
rs67789219	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68074363	1.00[ASN][1000 genomes]
rs698416	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs698418	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs700582	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712816	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7186662	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7187475	1.00[ASN][1000 genomes]
rs7190713	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197033	1.00[ASN][1000 genomes]
rs7198951	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7205668	1.00[ASN][1000 genomes]
rs72816835	1.00[ASN][1000 genomes]
rs72816877	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794279	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8044684	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8045353	1.00[ASN][1000 genomes]
rs8046748	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8051017	1.00[ASN][1000 genomes]
rs808434	1.00[ASN][1000 genomes]
rs808780	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808783	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	esv1792701	chr16:46709686-46751452	Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
13	nsv1059598	chr16:46721805-46762219	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
14	nsv542913	chr16:46721805-46762219	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
15	nsv1064272	chr16:46721805-46768134	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	nsv542914	chr16:46721805-46768134	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
17	nsv1067038	chr16:46721805-46797514	Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
18	nsv1066472	chr16:46721805-46801769	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
19	nsv1065253	chr16:46721805-46824369	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
20	nsv1059049	chr16:46721805-46859239	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
21	nsv1061651	chr16:46721805-46915511	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
22	nsv1060982	chr16:46721805-46938858	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs420865	LOC388272	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46724800-46742000	Weak transcription	Right Ventricle	heart
2	chr16:46725000-46734400	Weak transcription	Spleen	Spleen
3	chr16:46725000-46738800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr16:46725000-46739200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr16:46725000-46744400	Weak transcription	Psoas Muscle	Psoas
6	chr16:46725200-46738800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr16:46725400-46739400	Weak transcription	Placenta	Placenta
8	chr16:46725600-46734600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr16:46725600-46734600	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr16:46725600-46736000	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr16:46725600-46752200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr16:46725800-46734400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr16:46725800-46734400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr16:46725800-46734400	Weak transcription	NHDF-Ad	bronchial
15	chr16:46725800-46735800	Weak transcription	Fetal Kidney	kidney
16	chr16:46725800-46736400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:46725800-46737400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr16:46726000-46735800	Weak transcription	Fetal Brain Male	brain
19	chr16:46726000-46736000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:46726200-46735000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:46726200-46736000	Weak transcription	Fetal Intestine Small	intestine
22	chr16:46726200-46743200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr16:46727600-46734400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr16:46727600-46734800	Weak transcription	Fetal Thymus	thymus
25	chr16:46729000-46735200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr16:46730000-46738000	Weak transcription	HSMM	muscle
27	chr16:46730200-46738000	Weak transcription	NH-A	brain
28	chr16:46730400-46737200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr16:46730600-46734800	Weak transcription	Thymus	Thymus
30	chr16:46730600-46736000	Weak transcription	Hela-S3	cervix
31	chr16:46730600-46737400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr16:46730800-46734600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr16:46731200-46735600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr16:46731200-46755800	Weak transcription	Fetal Muscle Leg	muscle
35	chr16:46731400-46734400	Enhancers	Fetal Heart	heart
36	chr16:46731400-46734400	Weak transcription	Osteobl	bone
37	chr16:46731400-46746000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr16:46731400-46746400	Weak transcription	Primary B cells from cord blood	blood
39	chr16:46731600-46737400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:46731600-46746000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr16:46731800-46734600	Weak transcription	Fetal Stomach	stomach
42	chr16:46731800-46737800	Weak transcription	NHLF	lung
43	chr16:46731800-46738000	Weak transcription	Left Ventricle	heart
44	chr16:46731800-46745000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr16:46732200-46735200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr16:46732600-46734200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr16:46732600-46735200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr16:46732600-46737400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr16:46732600-46737400	Weak transcription	Fetal Intestine Large	intestine
50	chr16:46732600-46738600	Weak transcription	NHEK	skin

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