Variant report

Variant	rs55802221
Chromosome Location	chr6:167517320-167517321
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167516694..167518621-chr6:167521648..167524357,2	K562	blood:
2	chr6:167511835..167514028-chr6:167517104..167518840,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1012656	0.86[ASN][1000 genomes]
rs1012657	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10946211	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10946212	0.98[EUR][1000 genomes]
rs10946213	0.98[EUR][1000 genomes]
rs10946214	0.98[EUR][1000 genomes]
rs10946215	0.98[EUR][1000 genomes]
rs11967165	0.81[ASN][1000 genomes]
rs150108	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs150110	0.88[ASN][1000 genomes]
rs150112	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1556413	0.93[ASN][1000 genomes]
rs2021033	0.81[AMR][1000 genomes]
rs2021999	0.81[ASN][1000 genomes]
rs2022000	0.81[ASN][1000 genomes]
rs2022001	0.81[ASN][1000 genomes]
rs2023305	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2039321	0.97[EUR][1000 genomes]
rs204293	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4710178	0.97[EUR][1000 genomes]
rs4710179	0.97[EUR][1000 genomes]
rs4710181	0.97[EUR][1000 genomes]
rs4710182	0.97[EUR][1000 genomes]
rs4710183	0.97[EUR][1000 genomes]
rs6456157	0.81[ASN][1000 genomes]
rs6456158	0.81[ASN][1000 genomes]
rs6456159	0.81[ASN][1000 genomes]
rs6905876	0.83[EUR][1000 genomes]
rs6905911	0.83[EUR][1000 genomes]
rs6907666	0.81[AMR][1000 genomes]
rs6908364	0.81[ASN][1000 genomes]
rs6909252	0.80[ASN][1000 genomes]
rs6911766	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6930998	0.81[ASN][1000 genomes]
rs6931530	0.81[ASN][1000 genomes]
rs7749827	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7765739	0.95[EUR][1000 genomes]
rs7774396	0.95[EUR][1000 genomes]
rs7775443	0.96[EUR][1000 genomes]
rs9347175	0.81[ASN][1000 genomes]
rs9364891	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9366089	0.96[EUR][1000 genomes]
rs9457273	0.95[EUR][1000 genomes]
rs9459882	0.81[ASN][1000 genomes]
rs968333	0.83[ASN][1000 genomes]
rs975822	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	esv2752099	chr6:167448181-167579102	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1018193	chr6:167491589-167797294	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv538544	chr6:167491589-167797294	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv469673	chr6:167500376-167658532	Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Strong transcription 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	10 gene(s)	inside rSNPs	diseases
12	nsv482439	chr6:167500376-167658532	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv2758094	chr6:167501204-167845935	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	esv2759492	chr6:167501204-168176733	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55802221	RNASET2	cis	Whole Blood	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167503600-167527200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:167509000-167525200	Enhancers	Primary B cells from peripheral blood	blood
3	chr6:167511200-167517400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:167512600-167518800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:167512800-167518000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:167512800-167518400	Weak transcription	Thymus	Thymus
7	chr6:167515600-167518000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr6:167515800-167517600	Enhancers	Spleen	Spleen
9	chr6:167515800-167518200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:167516000-167517400	Enhancers	Stomach Mucosa	stomach
11	chr6:167516200-167517400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr6:167516200-167517600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr6:167516200-167517600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:167516400-167517400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr6:167516400-167517400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:167516400-167517400	Enhancers	Fetal Thymus	thymus
17	chr6:167516400-167517400	Enhancers	Ovary	ovary
18	chr6:167516400-167517600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr6:167516400-167517600	Enhancers	Duodenum Mucosa	Duodenum
20	chr6:167516400-167518000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:167516400-167518000	Enhancers	Fetal Intestine Small	intestine
22	chr6:167516400-167518200	Enhancers	Fetal Intestine Large	intestine
23	chr6:167516600-167517400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr6:167516600-167517400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr6:167516600-167517400	Enhancers	Small Intestine	intestine
26	chr6:167516600-167517600	Flanking Active TSS	HepG2	liver
27	chr6:167516600-167518200	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr6:167516800-167517400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:167517000-167517400	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr6:167517000-167519800	Enhancers	Primary B cells from cord blood	blood
31	chr6:167517200-167517400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr6:167517200-167518200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:167517200-167518400	Enhancers	GM12878-XiMat	blood

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