Variant report

Variant	rs364451
Chromosome Location	chr6:167384756-167384757
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:167376063..167378279-chr6:167383576..167385467,2	K562	blood:
2	chr6:167382648..167385296-chr6:167441304..167444220,2	K562	blood:
3	chr6:167384727..167386679-chr6:167410751..167412327,2	K562	blood:
4	chr6:167383062..167385710-chr6:167390180..167391984,2	MCF-7	breast:
5	chr6:167368947..167370452-chr6:167382818..167385059,2	K562	blood:
6	chr6:167372022..167374249-chr6:167383520..167385172,2	K562	blood:
7	chr6:167383885..167385840-chr6:167392702..167394703,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265828	Chromatin interaction
ENSG00000249141	Chromatin interaction
ENSG00000026297	Chromatin interaction

Extended variants
information (count: 162 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs1044059	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10455982	0.80[ASN][1000 genomes]
rs10484531	0.81[ASN][1000 genomes]
rs1060404	0.82[ASN][1000 genomes]
rs10946198	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10946199	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10946203	0.80[ASN][1000 genomes]
rs10946204	0.81[ASN][1000 genomes]
rs10946207	0.81[ASN][1000 genomes]
rs1187530	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1187532	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1211447	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12212247	0.86[ASN][1000 genomes]
rs13192426	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13195812	0.80[ASN][1000 genomes]
rs1322077	0.82[ASN][1000 genomes]
rs1590257	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1620933	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1743439	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1743440	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1743441	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1794693	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1794694	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1794696	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1794697	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1794699	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1794700	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1811120	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1819333	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2013815	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2015864	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2038580	0.81[ASN][1000 genomes]
rs2149083	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2149084	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2149085	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2149090	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2149091	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2149093	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2247325	0.88[ASN][1000 genomes]
rs2345571	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2345573	0.83[EUR][1000 genomes]
rs239934	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs239935	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2757042	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2757044	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2757046	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2757050	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2757052	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2757054	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2769345	0.81[AMR][1000 genomes]
rs2769346	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2769347	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2769348	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2769349	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2769351	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2769352	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2769354	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2769355	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs364283	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs365189	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3752520	0.81[ASN][1000 genomes]
rs376097	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs376551	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs376574	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs377232	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs377753	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs385863	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs386548	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs387733	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs388406	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs389946	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs389956	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs393558	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs393727	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs394522	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs397713	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs398278	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs400063	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs400176	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs400837	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs402191	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs402749	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs404222	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs405553	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs406095	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs407515	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs408040	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs408080	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs408087	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs408918	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs409356	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs413232	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs414437	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs415842	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs415890	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs415987	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs416131	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs421214	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs422094	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs422562	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs422694	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs422780	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs424185	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs425039	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs427824	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs428805	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs429083	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs430097	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs430145	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs430293	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs430477	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs433191	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs434093	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4346838	0.81[AMR][1000 genomes]
rs436625	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs436707	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs439237	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs439553	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs442298	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs443570	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs444210	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs444988	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs447042	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs448060	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs453184	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4710147	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4710160	0.86[EUR][1000 genomes]
rs4710161	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4710171	0.82[ASN][1000 genomes]
rs4997107	0.84[EUR][1000 genomes]
rs5020533	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6904946	0.80[ASN][1000 genomes]
rs6920364	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6923582	0.80[ASN][1000 genomes]
rs6929466	0.85[ASN][1000 genomes]
rs6939196	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs86755	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9295385	0.80[ASN][1000 genomes]
rs932644	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9348211	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9457247	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9457249	0.82[ASN][1000 genomes]
rs9457251	0.82[ASN][1000 genomes]
rs9457252	0.80[ASN][1000 genomes]
rs9457256	0.81[ASN][1000 genomes]
rs9457259	0.80[ASN][1000 genomes]
rs9459827	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9459836	0.86[ASN][1000 genomes]
rs9459838	0.82[ASN][1000 genomes]
rs9459840	0.80[ASN][1000 genomes]
rs9459841	0.80[ASN][1000 genomes]
rs9459849	0.80[ASN][1000 genomes]
rs9717862	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
5	nsv482507	chr6:167282376-167474915	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers 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 miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
8	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1026972	chr6:167335031-167671042	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS 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 miRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs364451	RNASET2	cis	Whole Blood	GTEx
rs364451	RNASET2	cis	Esophagus Mucosa	GTEx
rs364451	RNASET2	cis	Skin Sun Exposed Lower leg	GTEx
rs364451	AL133458.1	cis	Whole Blood	GTEx
rs364451	AL133458.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167371400-167411000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:167373600-167402400	Weak transcription	Liver	Liver
3	chr6:167373800-167384800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:167378800-167398600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:167380800-167391000	Weak transcription	Osteobl	bone
6	chr6:167381200-167410000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:167381200-167411000	Weak transcription	Fetal Stomach	stomach
8	chr6:167381600-167385200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr6:167381800-167391200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:167381800-167396200	Weak transcription	HepG2	liver
11	chr6:167382000-167411200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:167382200-167385400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr6:167382400-167392400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:167382400-167402200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:167382600-167384800	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr6:167382600-167385200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:167382600-167385400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:167382600-167392000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:167382800-167385000	Enhancers	Fetal Thymus	thymus
20	chr6:167383000-167385000	Enhancers	Thymus	Thymus
21	chr6:167383200-167385000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:167383200-167385200	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr6:167383200-167396200	Weak transcription	Fetal Brain Female	brain
24	chr6:167383200-167411200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:167383400-167386200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr6:167383400-167386600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr6:167383400-167387200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr6:167383400-167389800	Weak transcription	K562	blood
29	chr6:167383400-167411000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr6:167383600-167384800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:167383600-167385400	Enhancers	Primary T cells from cord blood	blood
32	chr6:167383600-167385600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:167383600-167391000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:167383800-167384800	Enhancers	Primary B cells from cord blood	blood
35	chr6:167383800-167385400	Enhancers	Primary hematopoietic stem cells	blood
36	chr6:167383800-167385800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:167383800-167392000	Weak transcription	Brain Germinal Matrix	brain
38	chr6:167384000-167384800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr6:167384000-167396200	Weak transcription	GM12878-XiMat	blood
40	chr6:167384000-167410600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr6:167384000-167411000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr6:167384000-167411000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:167384200-167385000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:167384200-167385000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:167384200-167385000	Strong transcription	Fetal Intestine Small	intestine
46	chr6:167384400-167385400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:167384400-167385600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr6:167384400-167385800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr6:167384400-167386200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
50	chr6:167384400-167401400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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