Variant report

Variant	rs73526192
Chromosome Location	chr6:118898071-118898072
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	chr6:118898009-118898480	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr6:118897944-118898615	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:118891495..118893998-chr6:118896946..118899514,2	K562	blood:

Variant related genes	Relation type
CEP85L	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1079936	0.80[AFR][1000 genomes]
rs1317073	1.00[AMR][1000 genomes]
rs1317735	1.00[AMR][1000 genomes]
rs17080137	1.00[AMR][1000 genomes]
rs17080148	1.00[AMR][1000 genomes]
rs17080257	0.80[AFR][1000 genomes]
rs17080291	1.00[AMR][1000 genomes]
rs17080305	1.00[AMR][1000 genomes]
rs17080307	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17080321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17080325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17080419	0.90[AFR][1000 genomes]
rs17080446	0.85[AFR][1000 genomes]
rs17080465	0.85[AFR][1000 genomes]
rs17080466	0.85[AFR][1000 genomes]
rs17080469	0.81[AFR][1000 genomes]
rs17080474	0.91[AFR][1000 genomes]
rs1998482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56689315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56959050	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57969379	1.00[AMR][1000 genomes]
rs58651965	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58727849	1.00[AMR][1000 genomes]
rs58824263	1.00[AMR][1000 genomes]
rs59510697	1.00[AMR][1000 genomes]
rs60456335	0.90[AFR][1000 genomes]
rs60752825	1.00[AMR][1000 genomes]
rs60881635	1.00[AMR][1000 genomes]
rs61344747	0.90[AFR][1000 genomes]
rs73515223	0.91[AFR][1000 genomes]
rs73515228	0.86[AFR][1000 genomes]
rs73520372	1.00[AMR][1000 genomes]
rs73520374	1.00[AMR][1000 genomes]
rs73522409	1.00[AMR][1000 genomes]
rs73522412	1.00[AMR][1000 genomes]
rs73522428	1.00[AMR][1000 genomes]
rs73522451	1.00[AMR][1000 genomes]
rs73522486	1.00[AMR][1000 genomes]
rs73522497	1.00[AMR][1000 genomes]
rs73524113	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524117	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524120	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524155	0.80[AFR][1000 genomes]
rs73526173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73526179	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73526183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73526195	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73528703	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73528704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73528730	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73528784	0.90[AFR][1000 genomes]
rs73530804	0.90[AFR][1000 genomes]
rs735920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs997302	0.80[AFR][1000 genomes];1.00[AMR][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:52 , 50 per page) page: 1 2

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	chr6:118894800-118898200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:118894800-118898600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
6	chr6:118894800-118900600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
7	chr6:118894800-118902600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
8	chr6:118895000-118899600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:118895000-118900400	ZNF genes & repeats	Primary T cells from cord blood	blood
10	chr6:118895000-118902000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
11	chr6:118895200-118898200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:118895200-118898600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr6:118895200-118898600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:118895200-118898600	ZNF genes & repeats	Fetal Stomach	stomach
15	chr6:118895200-118899400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:118895200-118899600	ZNF genes & repeats	Fetal Muscle Leg	muscle
17	chr6:118895200-118899800	ZNF genes & repeats	Primary B cells from cord blood	blood
18	chr6:118895200-118902000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
19	chr6:118895200-118902000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
20	chr6:118895200-118902800	ZNF genes & repeats	Thymus	Thymus
21	chr6:118895200-118903200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
22	chr6:118895400-118898600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
23	chr6:118895600-118900400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr6:118895600-118901800	Weak transcription	Brain Angular Gyrus	brain
25	chr6:118895800-118911400	Weak transcription	Right Ventricle	heart
26	chr6:118896000-118909400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:118896200-118898400	Weak transcription	Fetal Lung	lung
28	chr6:118896200-118899200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:118896200-118899400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr6:118896200-118901600	Weak transcription	Pancreas	Pancrea
31	chr6:118896200-118901600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr6:118896200-118901800	Weak transcription	Ovary	ovary
33	chr6:118896200-118902600	Weak transcription	Gastric	stomach
34	chr6:118896200-118910000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr6:118896400-118899400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:118896400-118899400	Weak transcription	Psoas Muscle	Psoas
37	chr6:118896400-118901600	Weak transcription	Left Ventricle	heart
38	chr6:118896800-118899600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr6:118896800-118902400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:118897000-118899000	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr6:118897000-118899000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr6:118897000-118899400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr6:118897000-118901800	Weak transcription	Fetal Brain Male	brain
44	chr6:118897200-118899200	Weak transcription	Osteobl	bone
45	chr6:118897400-118898400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:118897400-118898600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:118897400-118900400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
48	chr6:118897400-118902200	ZNF genes & repeats	Fetal Thymus	thymus
49	chr6:118897600-118898400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr6:118897600-118899400	Weak transcription	Aorta	Aorta

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