Variant report

Variant	rs1322077
Chromosome Location	chr6:167424293-167424294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:167423442..167425516-chr6:167426454..167430057,4	K562	blood:
2	chr6:167409616..167411218-chr6:167423790..167425616,2	K562	blood:
3	chr6:167411845..167416252-chr6:167418538..167424999,7	MCF-7	breast:
4	chr6:167422410..167425516-chr6:167426454..167429181,4	K562	blood:
5	chr6:167424149..167427118-chr6:167441953..167443823,2	K562	blood:

Variant related genes	Relation type
ENSG00000272980	Chromatin interaction
ENSG00000213066	Chromatin interaction
ENSG00000227598	Chromatin interaction

Extended variants
information (count: 199 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:190)

rs_ID	r²[population]
rs10455982	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10484530	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10484531	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1060404	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10946198	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10946203	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10946204	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10946205	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10946207	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10946208	0.84[AMR][1000 genomes]
rs1187530	0.81[AFR][1000 genomes]
rs1187532	0.82[AFR][1000 genomes]
rs1211447	0.82[AFR][1000 genomes]
rs12203510	0.83[AMR][1000 genomes]
rs12208359	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12209395	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12212247	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12213683	0.85[AMR][1000 genomes]
rs12523712	0.83[AMR][1000 genomes]
rs12526548	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12527827	0.83[AMR][1000 genomes]
rs12528323	0.85[AMR][1000 genomes]
rs12528689	0.85[AMR][1000 genomes]
rs12529238	0.83[AMR][1000 genomes]
rs12529876	0.85[AMR][1000 genomes]
rs12529959	0.83[AMR][1000 genomes]
rs13195812	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13204839	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13208636	0.85[AMR][1000 genomes]
rs13210649	0.80[AMR][1000 genomes]
rs1358882	0.83[AMR][1000 genomes]
rs1358883	0.83[AMR][1000 genomes]
rs1407315	0.83[AMR][1000 genomes]
rs1590257	0.82[AFR][1000 genomes]
rs1620933	0.84[AFR][1000 genomes]
rs1743439	0.84[AFR][1000 genomes]
rs1743440	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1743441	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17524252	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1794693	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1794694	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1794696	0.90[ASN][1000 genomes]
rs1794697	0.84[AFR][1000 genomes]
rs1794699	0.84[AFR][1000 genomes]
rs1810644	0.83[AMR][1000 genomes]
rs1811120	0.83[ASN][1000 genomes]
rs1894603	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2001114	0.82[AMR][1000 genomes]
rs2001115	0.83[AMR][1000 genomes]
rs2015864	0.81[AFR][1000 genomes]
rs2017338	0.83[AMR][1000 genomes]
rs2038580	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2149093	0.80[ASN][1000 genomes]
rs2181058	0.83[AMR][1000 genomes]
rs2181059	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2237272	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2237273	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2237276	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237277	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2239827	0.84[AMR][1000 genomes]
rs2282860	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2282861	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2301436	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2345571	0.82[AFR][1000 genomes]
rs239933	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs239935	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2757042	0.82[ASN][1000 genomes]
rs2757050	0.81[AFR][1000 genomes]
rs2757052	0.82[AFR][1000 genomes]
rs2757054	0.82[AFR][1000 genomes]
rs2769352	0.83[ASN][1000 genomes]
rs2769354	0.82[AFR][1000 genomes]
rs2769355	0.82[AFR][1000 genomes]
rs35171809	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs364451	0.82[ASN][1000 genomes]
rs365189	0.82[AFR][1000 genomes]
rs3752520	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs376097	0.84[AFR][1000 genomes]
rs376551	0.82[AFR][1000 genomes]
rs376574	0.82[AFR][1000 genomes]
rs377753	0.82[AFR][1000 genomes]
rs385863	0.81[AFR][1000 genomes]
rs386548	0.82[AFR][1000 genomes]
rs387733	0.84[AFR][1000 genomes]
rs388406	0.84[AFR][1000 genomes]
rs393558	0.84[AFR][1000 genomes]
rs394522	0.82[AFR][1000 genomes]
rs397713	0.82[AFR][1000 genomes]
rs398278	0.85[ASN][1000 genomes]
rs400176	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs400837	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs402191	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs402749	0.82[AFR][1000 genomes]
rs404222	0.90[ASN][1000 genomes]
rs405553	0.84[AFR][1000 genomes]
rs406095	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs407515	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs408040	0.84[AFR][1000 genomes]
rs408080	0.87[ASN][1000 genomes]
rs408918	0.84[AFR][1000 genomes]
rs409356	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs413232	0.84[AFR][1000 genomes]
rs415842	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs415890	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs415987	0.84[AFR][1000 genomes]
rs416131	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs421214	0.87[AFR][1000 genomes]
rs422094	0.84[AFR][1000 genomes]
rs422562	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs422694	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs422780	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs424185	0.84[AFR][1000 genomes]
rs425039	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs427824	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs428805	0.83[AFR][1000 genomes]
rs430097	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs430145	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs430293	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs430477	0.82[AFR][1000 genomes]
rs433191	0.84[AFR][1000 genomes]
rs436625	0.81[AFR][1000 genomes]
rs436707	0.82[AFR][1000 genomes]
rs439237	0.80[AFR][1000 genomes]
rs444988	0.84[ASN][1000 genomes]
rs447042	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs448060	0.82[AFR][1000 genomes]
rs453184	0.82[AFR][1000 genomes]
rs4710161	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4710171	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4710175	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5020533	0.84[AFR][1000 genomes]
rs62436765	0.83[AMR][1000 genomes]
rs6456143	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6456146	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6456149	0.85[AMR][1000 genomes]
rs6456150	0.83[AMR][1000 genomes]
rs6456151	0.83[AMR][1000 genomes]
rs6456152	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6456153	0.83[AMR][1000 genomes]
rs6456154	0.83[AMR][1000 genomes]
rs6900701	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6904946	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6909180	0.85[AMR][1000 genomes]
rs6909475	0.82[AMR][1000 genomes]
rs6909502	0.82[AMR][1000 genomes]
rs6920858	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6923582	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6929466	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6932740	0.83[AMR][1000 genomes]
rs6934043	0.83[AMR][1000 genomes]
rs6939196	0.83[AFR][1000 genomes]
rs720325	0.81[AMR][1000 genomes]
rs7742305	0.83[AMR][1000 genomes]
rs7748224	0.81[AMR][1000 genomes]
rs7749278	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7761977	0.83[AMR][1000 genomes]
rs7762156	0.83[AMR][1000 genomes]
rs7766242	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs86755	0.83[AFR][1000 genomes]
rs911632	0.83[AMR][1000 genomes]
rs916331	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9295384	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9295385	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs932644	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9348211	0.83[ASN][1000 genomes]
rs9457247	0.82[AFR][1000 genomes]
rs9457249	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9457251	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9457252	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9457254	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9457256	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9457257	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9457258	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9457259	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9457260	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9457261	0.83[AMR][1000 genomes]
rs9459835	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9459836	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9459838	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9459839	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9459840	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9459841	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9459842	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9459845	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9459846	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9459849	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9459853	0.80[AMR][1000 genomes]
rs9459854	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9459855	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9459862	0.83[AMR][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1322077	RNASET2	cis	Skin Sun Exposed Lower leg	GTEx
rs1322077	RNASET2	cis	Whole Blood	GTEx
rs1322077	AL133458.1	cis	Whole Blood	GTEx
rs1322077	AL133458.1	cis	lung	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167413600-167425000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:167413600-167425000	Weak transcription	Brain Substantia Nigra	brain
3	chr6:167413600-167425000	Weak transcription	Lung	lung
4	chr6:167413600-167425200	Weak transcription	Esophagus	oesophagus
5	chr6:167413600-167428600	Weak transcription	Aorta	Aorta
6	chr6:167413600-167428800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:167413600-167428800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:167413600-167438800	Weak transcription	Right Ventricle	heart
9	chr6:167413600-167449200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:167413600-167452400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:167413800-167436800	Weak transcription	HSMMtube	muscle
12	chr6:167414600-167424400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:167414600-167425000	Weak transcription	Brain Angular Gyrus	brain
14	chr6:167414600-167425000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr6:167414600-167425000	Weak transcription	NHLF	lung
16	chr6:167414600-167428600	Weak transcription	Fetal Brain Male	brain
17	chr6:167414600-167429200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:167414600-167429200	Strong transcription	Primary B cells from cord blood	blood
19	chr6:167414600-167430400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:167414600-167433200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr6:167414600-167440800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr6:167414600-167441000	Weak transcription	Psoas Muscle	Psoas
23	chr6:167414600-167448000	Weak transcription	Small Intestine	intestine
24	chr6:167414600-167450200	Weak transcription	Stomach Mucosa	stomach
25	chr6:167414800-167425000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr6:167415200-167425000	Weak transcription	Gastric	stomach
27	chr6:167415200-167440800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr6:167415400-167424400	Weak transcription	Fetal Brain Female	brain
29	chr6:167415400-167424800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr6:167415400-167424800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr6:167415400-167454000	Strong transcription	Fetal Thymus	thymus
32	chr6:167415400-167456600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:167416000-167425000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:167416000-167444600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:167416200-167431800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:167416200-167437400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr6:167417200-167455400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:167417600-167443000	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr6:167417600-167446000	Strong transcription	Dnd41	blood
40	chr6:167417600-167454800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:167417800-167429200	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr6:167417800-167455200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:167418800-167429200	Strong transcription	Osteobl	bone
44	chr6:167419200-167424400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr6:167419200-167432800	Strong transcription	Fetal Muscle Leg	muscle
46	chr6:167419400-167425000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr6:167419600-167425000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:167419600-167425000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr6:167419600-167425000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr6:167419600-167425600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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