Variant report

Variant	rs2236310
Chromosome Location	chr6:167359905-167359906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:167359792-167359909	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:167359371-167360113	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167356381..167359345-chr6:167359373..167361500,2	K562	blood:
2	chr6:167355022..167357881-chr6:167358676..167361500,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPS6KA2-2	chr6:167357853-167360151	NONHSAT116065

No data

Variant related genes	Relation type
RNASET2	TF binding region
ENSG00000026297	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12197030	0.90[ASN][1000 genomes]
rs12199182	0.94[EUR][1000 genomes]
rs2236311	0.96[ASN][1000 genomes]
rs2757057	0.80[ASN][1000 genomes]
rs9459810	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9459812	0.89[EUR][1000 genomes]
rs9459813	0.87[EUR][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	nsv605327	chr6:167185674-167360389	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv1034359	chr6:167359643-167384714	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2236310	RNASET2	Cis_1M	lymphoblastoid	RTeQTL
rs2236310	AL133458.1	cis	Whole Blood	GTEx

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167337600-167363400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:167340000-167363000	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr6:167340000-167363000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:167340200-167362800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr6:167340400-167363000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:167340600-167363000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:167341000-167368800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:167341200-167368800	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:167341400-167361400	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr6:167342400-167368600	Weak transcription	Fetal Heart	heart
11	chr6:167344200-167364000	Weak transcription	Brain Angular Gyrus	brain
12	chr6:167344200-167368600	Weak transcription	Right Atrium	heart
13	chr6:167344400-167362000	Strong transcription	GM12878-XiMat	blood
14	chr6:167344400-167363600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:167344400-167364000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:167345600-167361400	Strong transcription	Duodenum Mucosa	Duodenum
17	chr6:167346400-167362200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:167348400-167364800	Weak transcription	Brain Substantia Nigra	brain
19	chr6:167350000-167363600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:167350600-167361000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr6:167350600-167363200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:167350600-167366400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:167350600-167367600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:167351000-167362000	Strong transcription	Primary B cells from cord blood	blood
25	chr6:167351600-167360600	Weak transcription	Stomach Mucosa	stomach
26	chr6:167352200-167360400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr6:167352200-167363200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:167352200-167368800	Weak transcription	Fetal Kidney	kidney
29	chr6:167352400-167360400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr6:167352400-167360600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr6:167352400-167363200	Weak transcription	Small Intestine	intestine
32	chr6:167352400-167364800	Weak transcription	Right Ventricle	heart
33	chr6:167353600-167360400	Weak transcription	Fetal Brain Female	brain
34	chr6:167353600-167364000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr6:167353800-167366600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:167354200-167363200	Weak transcription	Brain Germinal Matrix	brain
37	chr6:167354400-167362200	Strong transcription	HepG2	liver
38	chr6:167354400-167364800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr6:167354600-167362200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:167354600-167363200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr6:167354600-167364800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:167354600-167368800	Weak transcription	HSMM	muscle
43	chr6:167354600-167369000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr6:167354600-167369000	Weak transcription	A549	lung
45	chr6:167354800-167363400	Weak transcription	Brain Anterior Caudate	brain
46	chr6:167356000-167362000	Strong transcription	Fetal Stomach	stomach
47	chr6:167356400-167361200	Strong transcription	Lung	lung
48	chr6:167356400-167366800	Strong transcription	Fetal Intestine Small	intestine
49	chr6:167356600-167361200	Strong transcription	Colonic Mucosa	Colon
50	chr6:167356800-167360000	Strong transcription	Fetal Lung	lung

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