Variant report

Variant	rs72954806
Chromosome Location	chr6:118899965-118899966
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	TRIM28	chr6:118899729-118900168	K562	blood:	n/a	n/a
2	CBX3	chr6:118899800-118900129	K562	blood:	n/a	n/a
3	PAX5	chr6:118899824-118900041	GM12878	blood:	n/a	n/a
4	SETDB1	chr6:118899508-118900395	U2OS	brain:	n/a	n/a
5	ZNF143	chr6:118899831-118900114	K562	blood:	n/a	n/a
6	SETDB1	chr6:118899760-118900246	K562	blood:	n/a	n/a
7	CBX3	chr6:118899772-118900157	K562	blood:	n/a	n/a
8	KAP1	chr6:118899828-118900149	K562	blood:	n/a	n/a
9	KAP1	chr6:118899843-118900190	HEK293	kidney:	n/a	n/a
10	ZNF143	chr6:118899933-118900112	Hela-S3	cervix:	n/a	n/a
11	SETDB1	chr6:118899821-118901640	K562	blood:	n/a	n/a
12	ZNF143	chr6:118899915-118900044	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
CEP85L	TF binding region

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10484286	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10484289	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12333080	0.89[EUR][1000 genomes]
rs1319987	0.87[EUR][1000 genomes]
rs1319988	0.87[EUR][1000 genomes]
rs13437605	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17080292	0.89[EUR][1000 genomes]
rs17080302	0.89[EUR][1000 genomes]
rs17080456	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17349133	0.95[ASN][1000 genomes]
rs17349301	0.95[ASN][1000 genomes]
rs17424234	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17427284	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1891715	0.95[ASN][1000 genomes]
rs2356501	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs25422	0.88[EUR][1000 genomes]
rs28605789	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3902035	0.95[ASN][1000 genomes]
rs4416700	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55697388	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55850368	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55894300	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55899435	0.90[EUR][1000 genomes]
rs56082110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56130945	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56406560	0.95[ASN][1000 genomes]
rs62421532	0.83[ASN][1000 genomes]
rs62421533	0.83[ASN][1000 genomes]
rs62421536	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62421538	0.87[EUR][1000 genomes]
rs62421539	0.87[EUR][1000 genomes]
rs62422189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62422190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62422193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62422195	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62422220	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62422221	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62422223	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62422224	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62422227	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62422228	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62422229	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62422230	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62422234	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62422235	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62422236	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62422247	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62422248	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62422250	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62422253	0.91[ASN][1000 genomes]
rs62422254	0.95[ASN][1000 genomes]
rs62424172	0.87[EUR][1000 genomes]
rs62424173	0.86[EUR][1000 genomes]
rs62424175	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62424176	0.88[EUR][1000 genomes]
rs62424195	0.89[EUR][1000 genomes]
rs62424198	0.86[EUR][1000 genomes]
rs62424199	0.87[EUR][1000 genomes]
rs62424200	0.88[EUR][1000 genomes]
rs62424202	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62424204	0.88[EUR][1000 genomes]
rs724868	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72952733	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72952761	0.91[EUR][1000 genomes]
rs72952793	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72956993	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72969531	0.87[EUR][1000 genomes]
rs7356858	0.87[EUR][1000 genomes]
rs7356947	0.87[EUR][1000 genomes]
rs9320655	0.89[EUR][1000 genomes]
rs9320656	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9320660	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9320666	0.84[ASN][1000 genomes]
rs9481789	0.87[EUR][1000 genomes]
rs9481808	0.87[EUR][1000 genomes]
rs9481811	0.87[EUR][1000 genomes]
rs9481821	0.89[EUR][1000 genomes]
rs9481825	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9481826	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9481833	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9481844	0.84[ASN][1000 genomes]
rs9489381	0.86[EUR][1000 genomes]
rs9489383	0.86[EUR][1000 genomes]
rs9489399	0.87[EUR][1000 genomes]
rs9489407	0.87[EUR][1000 genomes]
rs9489409	0.87[EUR][1000 genomes]
rs9489416	0.89[EUR][1000 genomes]
rs9489428	0.87[EUR][1000 genomes]
rs9489433	0.90[EUR][1000 genomes]
rs9489436	0.89[EUR][1000 genomes]
rs9489442	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9489447	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489450	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489452	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489457	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489458	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489460	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489462	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489463	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9489467	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489477	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489493	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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 target site	10 gene(s)	inside rSNPs	diseases
3	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1025456	chr6:118669672-119058789	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv432958	chr6:118692307-119010307	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1034448	chr6:118698169-119016383	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1025097	chr6:118699752-119058789	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv1020586	chr6:118711098-118900012	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv532052	chr6:118711850-119057295	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv432959	chr6:118716318-119010307	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv604556	chr6:118722589-119065365	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv949416	chr6:118772508-119033063	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
16	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
17	nsv604559	chr6:118786486-119113317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
18	nsv1022865	chr6:118786586-119058789	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
19	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
20	nsv1030331	chr6:118874345-118975680	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118894200-118902400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
2	chr6:118894400-118904200	ZNF genes & repeats	Dnd41	blood
3	chr6:118894600-118900600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr6:118894800-118900600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr6:118894800-118902600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
6	chr6:118895000-118900400	ZNF genes & repeats	Primary T cells from cord blood	blood
7	chr6:118895000-118902000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
8	chr6:118895200-118902000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
9	chr6:118895200-118902000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
10	chr6:118895200-118902800	ZNF genes & repeats	Thymus	Thymus
11	chr6:118895200-118903200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
12	chr6:118895600-118900400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr6:118895600-118901800	Weak transcription	Brain Angular Gyrus	brain
14	chr6:118895800-118911400	Weak transcription	Right Ventricle	heart
15	chr6:118896000-118909400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:118896200-118901600	Weak transcription	Pancreas	Pancrea
17	chr6:118896200-118901600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr6:118896200-118901800	Weak transcription	Ovary	ovary
19	chr6:118896200-118902600	Weak transcription	Gastric	stomach
20	chr6:118896200-118910000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr6:118896400-118901600	Weak transcription	Left Ventricle	heart
22	chr6:118896800-118902400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:118897000-118901800	Weak transcription	Fetal Brain Male	brain
24	chr6:118897400-118900400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr6:118897400-118902200	ZNF genes & repeats	Fetal Thymus	thymus
26	chr6:118898000-118900400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
27	chr6:118899000-118900400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:118899000-118900400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:118899000-118901200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:118899000-118902400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
31	chr6:118899200-118901200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:118899400-118900000	ZNF genes & repeats	Psoas Muscle	Psoas
33	chr6:118899400-118900400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:118899400-118900600	ZNF genes & repeats	Fetal Stomach	stomach
35	chr6:118899400-118901000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:118899600-118900400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:118899600-118901800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr6:118899600-118902600	Weak transcription	NHLF	lung
39	chr6:118899800-118900400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:118899800-118901800	Weak transcription	Aorta	Aorta

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