Variant report

Variant	rs2237272
Chromosome Location	chr6:167443443-167443444
allele	A/G
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	chr6:167382648..167385296-chr6:167441304..167444220,2	K562	blood:
2	chr6:167433967..167440072-chr6:167441363..167445632,6	K562	blood:
3	chr6:167424149..167427118-chr6:167441953..167443823,2	K562	blood:
4	chr6:167428569..167431228-chr6:167442588..167444802,2	K562	blood:
5	chr6:167441965..167443908-chr6:167444261..167446569,2	MCF-7	breast:
6	chr6:167438329..167440773-chr6:167442829..167444419,2	K562	blood:
7	chr6:167442856..167445565-chr6:167449588..167451484,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000213066	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10455982	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10484530	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10484531	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1060404	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10946203	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10946204	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10946205	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10946207	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10946208	0.87[AMR][1000 genomes]
rs12208359	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12209395	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12212247	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12213683	0.82[AMR][1000 genomes]
rs12526548	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12528323	0.82[AMR][1000 genomes]
rs12528689	0.82[AMR][1000 genomes]
rs12529876	0.82[AMR][1000 genomes]
rs13195812	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13204839	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13208636	0.82[AMR][1000 genomes]
rs1322077	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17524252	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1794696	0.87[ASN][1000 genomes]
rs1894603	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2001114	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2038580	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2181059	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2237273	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2237276	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237277	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2239826	0.81[AMR][1000 genomes]
rs2239827	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2282860	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2282861	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2285148	0.82[AMR][1000 genomes]
rs2301436	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs239933	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs239935	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2769352	0.80[ASN][1000 genomes]
rs35171809	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3752520	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs398278	0.82[ASN][1000 genomes]
rs404222	0.87[ASN][1000 genomes]
rs408080	0.84[ASN][1000 genomes]
rs427824	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs444988	0.81[ASN][1000 genomes]
rs4710171	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4710175	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4710176	0.82[AMR][1000 genomes]
rs62436765	0.86[AMR][1000 genomes]
rs6456143	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6456146	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6456149	0.82[AMR][1000 genomes]
rs6456152	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6900701	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6904946	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6909180	0.82[AMR][1000 genomes]
rs6920858	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6921588	0.81[AMR][1000 genomes]
rs6923582	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6929466	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7749278	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7766242	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs916331	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9295384	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9295385	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9348211	0.80[ASN][1000 genomes]
rs9457249	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9457251	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9457252	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9457254	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9457256	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9457257	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9457258	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9457259	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9457260	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9459835	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9459836	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9459838	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9459839	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9459840	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9459841	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9459842	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9459845	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9459846	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9459849	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9459854	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9459855	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9459872	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
10	nsv464140	chr6:167426681-167492552	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv886943	chr6:167440244-167502638	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2237272	RNASET2	cis	Whole Blood	GTEx
rs2237272	RNASET2	cis	Skin Sun Exposed Lower leg	GTEx
rs2237272	AL133458.1	cis	lung	GTEx
rs2237272	AL133458.1	cis	Whole Blood	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167413600-167449200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:167413600-167452400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:167414600-167448000	Weak transcription	Small Intestine	intestine
4	chr6:167414600-167450200	Weak transcription	Stomach Mucosa	stomach
5	chr6:167415400-167454000	Strong transcription	Fetal Thymus	thymus
6	chr6:167415400-167456600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:167416000-167444600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:167417200-167455400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:167417600-167446000	Strong transcription	Dnd41	blood
10	chr6:167417600-167454800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr6:167417800-167455200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:167420800-167447600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr6:167423000-167446400	Strong transcription	HepG2	liver
14	chr6:167423000-167457600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:167423400-167446400	Strong transcription	Liver	Liver
16	chr6:167423400-167452200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr6:167425600-167453000	Weak transcription	Brain Substantia Nigra	brain
18	chr6:167426600-167450600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:167429200-167447600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:167431400-167444600	Strong transcription	Osteobl	bone
21	chr6:167432200-167450200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:167434200-167450600	Strong transcription	GM12878-XiMat	blood
23	chr6:167434800-167445600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr6:167434800-167452000	Strong transcription	Primary T cells from cord blood	blood
25	chr6:167435000-167445800	Strong transcription	Fetal Intestine Large	intestine
26	chr6:167435400-167446000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr6:167435600-167444600	Strong transcription	Fetal Brain Female	brain
28	chr6:167435800-167445200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr6:167435800-167445400	Strong transcription	Stomach Smooth Muscle	stomach
30	chr6:167435800-167445600	Strong transcription	Fetal Muscle Trunk	muscle
31	chr6:167435800-167445800	Strong transcription	Fetal Muscle Leg	muscle
32	chr6:167435800-167452200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:167436200-167450200	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr6:167436400-167444400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr6:167436400-167444400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:167436400-167445800	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr6:167436400-167445800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr6:167436400-167445800	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr6:167436400-167445800	Strong transcription	Thymus	Thymus
40	chr6:167436400-167446200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr6:167436800-167444200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:167437400-167445800	Strong transcription	Ovary	ovary
43	chr6:167437400-167449400	Weak transcription	Fetal Brain Male	brain
44	chr6:167437400-167454200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:167437600-167445600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr6:167437800-167444400	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr6:167438000-167444200	Strong transcription	Left Ventricle	heart
48	chr6:167438000-167456200	Strong transcription	Adipose Nuclei	Adipose
49	chr6:167438400-167447600	Weak transcription	Hela-S3	cervix
50	chr6:167438600-167449000	Strong transcription	Brain Anterior Caudate	brain

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