Variant report

Variant	rs12149380
Chromosome Location	chr16:72043546-72043547
allele	C/G
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:11)
LncRNA
region (count:0)
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	ZNF384	chr16:72043440-72043647	K562	blood:	n/a	n/a
2	POLR2A	chr16:72043456-72044069	HepG2	liver:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:72042919..72045492-chr16:72049478..72051025,2	K562	blood:
2	chr16:72042016..72045516-chr16:72126835..72130601,4	K562	blood:
3	chr16:71927023..71929738-chr16:72042635..72044988,2	K562	blood:
4	chr16:72042306..72048206-chr16:72125753..72130155,8	MCF-7	breast:
5	chr16:71962634..71964492-chr16:72041229..72043764,2	MCF-7	breast:
6	chr16:71927888..71929610-chr16:72042486..72044051,2	MCF-7	breast:
7	chr16:72040983..72044286-chr16:72126039..72129128,5	MCF-7	breast:
8	chr16:71928144..71931559-chr16:72041567..72044276,4	MCF-7	breast:
9	chr16:72025366..72027276-chr16:72042848..72045170,2	MCF-7	breast:
10	chr16:71840992..71843295-chr16:72041440..72044182,2	K562	blood:
11	chr16:71841795..71843345-chr16:72041440..72043953,2	K562	blood:

No data

Variant related genes	Relation type
DHODH	TF binding region
ENSG00000263311	TF binding region
ATP5A1P3	TF binding region
ENSG00000263320	Chromatin interaction
ENSG00000140830	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000140829	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000102967	Chromatin interaction
ENSG00000182149	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3213421	0.86[EUR][1000 genomes]
rs3213423	0.89[EUR][1000 genomes]
rs3812988	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv906894	chr16:72013539-72046211	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	n/a
9	esv1843253	chr16:72042428-72059149	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72042000-72043600	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr16:72042000-72043600	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr16:72042000-72043600	Active TSS	A549	lung
4	chr16:72042000-72043600	Active TSS	K562	blood
5	chr16:72042000-72043800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr16:72042000-72043800	Active TSS	Hela-S3	cervix
7	chr16:72042000-72043800	Active TSS	HSMM	muscle
8	chr16:72042200-72043600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr16:72042200-72043600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr16:72042200-72043800	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr16:72042200-72043800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr16:72042200-72043800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr16:72042200-72043800	Active TSS	Colonic Mucosa	Colon
14	chr16:72042200-72043800	Active TSS	HMEC	breast
15	chr16:72042400-72043600	Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr16:72042400-72043600	Active TSS	Dnd41	blood
17	chr16:72042400-72043800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:72043000-72046000	Weak transcription	Spleen	Spleen
19	chr16:72043000-72046800	Weak transcription	Fetal Heart	heart
20	chr16:72043000-72049600	Weak transcription	Aorta	Aorta
21	chr16:72043000-72063000	Weak transcription	Small Intestine	intestine
22	chr16:72043200-72043600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr16:72043200-72043600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr16:72043200-72043600	Enhancers	Fetal Brain Male	brain
25	chr16:72043200-72043600	Active TSS	Fetal Muscle Trunk	muscle
26	chr16:72043200-72043800	Enhancers	Primary B cells from peripheral blood	blood
27	chr16:72043200-72043800	Enhancers	Primary hematopoietic stem cells	blood
28	chr16:72043200-72043800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr16:72043200-72043800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr16:72043200-72043800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr16:72043200-72043800	Weak transcription	Liver	Liver
32	chr16:72043200-72043800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr16:72043200-72043800	Weak transcription	GM12878-XiMat	blood
34	chr16:72043200-72044000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr16:72043200-72044000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr16:72043200-72044000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr16:72043200-72044200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr16:72043200-72044600	Enhancers	Primary T cells from cord blood	blood
39	chr16:72043200-72045200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr16:72043200-72045600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:72043200-72045600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr16:72043200-72045600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr16:72043200-72045600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr16:72043200-72045600	Weak transcription	Fetal Muscle Leg	muscle
45	chr16:72043200-72045800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr16:72043200-72045800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr16:72043200-72045800	Weak transcription	Fetal Intestine Small	intestine
48	chr16:72043200-72045800	Weak transcription	Fetal Stomach	stomach
49	chr16:72043200-72046000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr16:72043200-72046000	Weak transcription	H9 Cell Line	embryonic stem cell

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