Variant report

Variant	rs2273746
Chromosome Location	chr6:167366070-167366071
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:167366051-167366485	GM12878	blood:	n/a	n/a
2	MAX	chr6:167365757-167366160	GM12878	blood:	n/a	chr6:167365904-167365915
3	POLR2A	chr6:167365398-167366859	GM12878	blood:	n/a	n/a
4	MXI1	chr6:167365725-167366184	GM12878	blood:	n/a	n/a
5	BHLHE40	chr6:167365579-167366412	GM12878	blood:	n/a	chr6:167365904-167365913
6	WRNIP1	chr6:167365988-167366907	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167364990..167367805-chr6:167369090..167372947,3	K562	blood:

Variant related genes	Relation type
RNASET2	TF binding region
ENSG00000249141	Chromatin interaction
ENSG00000026297	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs16899770	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs16899771	0.85[JPT][hapmap]
rs16899777	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs16899781	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs16899788	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs16899799	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs16899801	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs16899809	0.85[JPT][hapmap]
rs16899811	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs16899812	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs16899821	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs16899825	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs16899828	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs16899831	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs16899833	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs17856382	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs2282859	1.00[CEU][hapmap]
rs375883	0.85[JPT][hapmap]
rs3777721	0.88[CHB][hapmap]
rs3798305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798308	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs3798309	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs3798310	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs3798313	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs3822914	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs6922071	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs73041488	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73041490	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73041491	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73041494	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73041500	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73789707	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9459881	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167341000-167368800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:167341200-167368800	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:167342400-167368600	Weak transcription	Fetal Heart	heart
4	chr6:167344200-167368600	Weak transcription	Right Atrium	heart
5	chr6:167350600-167366400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:167350600-167367600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:167352200-167368800	Weak transcription	Fetal Kidney	kidney
8	chr6:167353800-167366600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:167354600-167368800	Weak transcription	HSMM	muscle
10	chr6:167354600-167369000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:167354600-167369000	Weak transcription	A549	lung
12	chr6:167356400-167366800	Strong transcription	Fetal Intestine Small	intestine
13	chr6:167360000-167368800	Weak transcription	Fetal Lung	lung
14	chr6:167360600-167368800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:167360600-167368800	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:167360600-167369000	Weak transcription	Osteobl	bone
17	chr6:167361200-167366200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:167361200-167369000	Weak transcription	Ovary	ovary
19	chr6:167361200-167369200	Weak transcription	Aorta	Aorta
20	chr6:167361800-167368600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr6:167361800-167369000	Weak transcription	Psoas Muscle	Psoas
22	chr6:167362200-167368800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:167363000-167368000	Genic enhancers	Primary monocytes fromperipheralblood	blood
24	chr6:167363200-167366200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:167363200-167366800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:167363200-167368000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
27	chr6:167363600-167368600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr6:167363600-167368800	Weak transcription	Brain Germinal Matrix	brain
29	chr6:167363800-167367600	Weak transcription	Small Intestine	intestine
30	chr6:167363800-167368800	Weak transcription	NHEK	skin
31	chr6:167364000-167366800	Strong transcription	Fetal Stomach	stomach
32	chr6:167364200-167367400	Weak transcription	Thymus	Thymus
33	chr6:167364200-167367800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:167364200-167368600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:167364200-167368600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:167364200-167368600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:167364200-167369000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:167364400-167366200	Strong transcription	Pancreas	Pancrea
39	chr6:167364400-167366400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:167364400-167368600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:167364400-167368600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr6:167364400-167368600	Weak transcription	Esophagus	oesophagus
43	chr6:167364400-167368600	Weak transcription	Lung	lung
44	chr6:167364400-167368600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr6:167364400-167368600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr6:167364800-167368600	Genic enhancers	Primary B cells from peripheral blood	blood
47	chr6:167364800-167368800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:167364800-167369000	Weak transcription	Stomach Mucosa	stomach
49	chr6:167364800-167369200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr6:167365000-167366200	Weak transcription	H1 Cell Line	embryonic stem cell

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