Variant report

Variant	rs6115350
Chromosome Location	chr20:25846964-25846965
allele	A/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	EP300	chr20:25846625-25847049	GM12878	blood:	n/a	n/a
2	ZBTB33	chr20:25846631-25847026	K562	blood:	n/a	n/a
3	SPI1	chr20:25846677-25846973	GM12878	blood:	n/a	n/a
4	ZBTB33	chr20:25846620-25847063	GM12878	blood:	n/a	n/a
5	BCL11A	chr20:25846694-25846979	GM12878	blood:	n/a	n/a
6	SIN3AK20	chr20:25846665-25846970	HepG2	liver:	n/a	n/a
7	TCF3	chr20:25846608-25846992	GM12878	blood:	n/a	n/a
8	USF1	chr20:25846769-25847121	HepG2	liver:	n/a	n/a
9	HEY1	chr20:25846555-25847041	K562	blood:	n/a	n/a
10	ZBTB33	chr20:25846605-25847073	GM12878	blood:	n/a	n/a
11	HEY1	chr20:25846720-25847030	K562	blood:	n/a	n/a
12	SIX5	chr20:25846693-25846976	K562	blood:	n/a	n/a
13	IRF4	chr20:25846593-25846996	GM12878	blood:	n/a	n/a
14	ZBTB33	chr20:25846588-25847049	HepG2	liver:	n/a	n/a
15	POU2F2	chr20:25846628-25847124	GM12878	blood:	n/a	n/a
16	IRF4	chr20:25846588-25847061	GM12878	blood:	n/a	n/a
17	ZBTB33	chr20:25846723-25846987	K562	blood:	n/a	n/a
18	SP1	chr20:25846626-25847043	GM12878	blood:	n/a	n/a
19	PAX5	chr20:25846660-25846964	GM12878	blood:	n/a	n/a
20	PAX5	chr20:25846586-25847172	GM12878	blood:	n/a	n/a
21	SP1	chr20:25846708-25846988	GM12878	blood:	n/a	n/a
22	SIX5	chr20:25846627-25846964	K562	blood:	n/a	n/a

Variant related genes	Relation type
FAM182B	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs13433200	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1977877	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002942	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2380318	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2890395	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4121105	1.00[ASN][1000 genomes]
rs4813595	1.00[ASN][1000 genomes]
rs4815476	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815482	1.00[ASN][1000 genomes]
rs4815489	1.00[ASN][1000 genomes]
rs4815490	1.00[ASN][1000 genomes]
rs4815491	1.00[ASN][1000 genomes]
rs4815494	1.00[ASN][1000 genomes]
rs4815495	1.00[ASN][1000 genomes]
rs4815496	1.00[ASN][1000 genomes]
rs4815497	0.83[ASN][1000 genomes]
rs56040867	0.83[ASN][1000 genomes]
rs56059532	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59779961	1.00[ASN][1000 genomes]
rs60007971	1.00[ASN][1000 genomes]
rs6037252	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037270	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037305	1.00[ASN][1000 genomes]
rs6037306	1.00[ASN][1000 genomes]
rs6037307	1.00[ASN][1000 genomes]
rs6037311	1.00[ASN][1000 genomes]
rs6037313	1.00[ASN][1000 genomes]
rs6037314	1.00[ASN][1000 genomes]
rs6050932	1.00[ASN][1000 genomes]
rs6050939	0.83[ASN][1000 genomes]
rs6050941	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050948	0.86[EUR][1000 genomes]
rs6050958	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6050997	1.00[CHB][hapmap];0.83[YRI][hapmap]
rs6051049	1.00[ASN][1000 genomes]
rs6051067	1.00[ASN][1000 genomes]
rs6051072	1.00[ASN][1000 genomes]
rs6051087	1.00[ASN][1000 genomes]
rs6107062	1.00[CHB][hapmap]
rs6107064	1.00[CHB][hapmap]
rs6107112	1.00[ASN][1000 genomes]
rs61091356	1.00[ASN][1000 genomes]
rs6115319	1.00[ASN][1000 genomes]
rs6115330	1.00[ASN][1000 genomes]
rs6115340	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6115343	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115347	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115351	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115353	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6115355	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115405	1.00[CHB][hapmap]
rs6115429	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap]
rs7267539	1.00[ASN][1000 genomes]
rs7268237	1.00[CHB][hapmap]
rs7274331	1.00[ASN][1000 genomes]
rs7345455	1.00[ASN][1000 genomes]
rs9653636	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758517	chr20:25701992-26319569	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
2	esv2758790	chr20:25701992-26319569	Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv470545	chr20:25715507-26309255	Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
4	nsv979422	chr20:25732656-25867609	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv10664	chr20:25767042-25849064	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv585749	chr20:25767347-25856929	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv585752	chr20:25786189-25864851	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv585753	chr20:25786189-25892571	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv585754	chr20:25786301-25864851	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv585755	chr20:25786301-25871801	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv585756	chr20:25786301-25948094	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv585757	chr20:25786301-25948327	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv585758	chr20:25786984-25951658	Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv585759	chr20:25787096-25948327	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv1059041	chr20:25832105-26007269	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1060065	chr20:25832105-26305567	Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
17	nsv9795	chr20:25832369-25851689	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv979451	chr20:25836169-25856112	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	esv3502991	chr20:25837879-25847973	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	esv3502992	chr20:25837879-25847973	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	esv3429566	chr20:25838143-25848095	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6115350	FAM182B	cis	multi-tissue	Pritchard

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25841800-25847200	Enhancers	Spleen	Spleen
2	chr20:25844600-25849400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr20:25844800-25849200	Active TSS	Brain Germinal Matrix	brain
4	chr20:25844800-25849800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr20:25845800-25847000	Flanking Active TSS	Dnd41	blood
6	chr20:25845800-25847200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr20:25846000-25847000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr20:25846000-25847000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr20:25846000-25847200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr20:25846000-25847400	Flanking Bivalent TSS/Enh	HepG2	liver
11	chr20:25846000-25850000	Active TSS	Brain Anterior Caudate	brain
12	chr20:25846200-25847000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr20:25846200-25847000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr20:25846200-25847000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr20:25846200-25847000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr20:25846200-25847000	Enhancers	Fetal Heart	heart
17	chr20:25846200-25847200	Enhancers	Pancreas	Pancrea
18	chr20:25846200-25847600	Active TSS	Brain Angular Gyrus	brain
19	chr20:25846400-25847000	Active TSS	Brain Cingulate Gyrus	brain
20	chr20:25846400-25847000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
21	chr20:25846600-25847000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr20:25846600-25847000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr20:25846600-25847000	Flanking Active TSS	Fetal Brain Male	brain
24	chr20:25846600-25847200	Enhancers	Esophagus	oesophagus
25	chr20:25846600-25847200	Bivalent Enhancer	Placenta	Placenta
26	chr20:25846600-25848400	Weak transcription	Gastric	stomach
27	chr20:25846600-25848400	Weak transcription	Lung	lung
28	chr20:25846600-25848600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr20:25846800-25847000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr20:25846800-25847000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr20:25846800-25847000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr20:25846800-25847000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr20:25846800-25847000	Enhancers	Adipose Nuclei	Adipose
34	chr20:25846800-25847000	Enhancers	Brain Hippocampus Middle	brain
35	chr20:25846800-25847000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr20:25846800-25847000	Bivalent Enhancer	Colonic Mucosa	Colon
37	chr20:25846800-25847000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr20:25846800-25847000	Bivalent Enhancer	Fetal Thymus	thymus
39	chr20:25846800-25847000	Enhancers	Left Ventricle	heart
40	chr20:25846800-25847000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr20:25846800-25847000	Active TSS	NHEK	skin
42	chr20:25846800-25847200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
43	chr20:25846800-25847200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
44	chr20:25846800-25847200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr20:25846800-25847200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr20:25846800-25847200	Active TSS	Fetal Brain Female	brain
47	chr20:25846800-25847200	Enhancers	Stomach Smooth Muscle	stomach
48	chr20:25846800-25848400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr20:25846800-25848400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr20:25846800-25848400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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