Variant report

Variant	rs2673326
Chromosome Location	chr12:57888997-57888998
allele	C/G/T
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	chr12:57888729-57889416	K562	blood:	n/a	n/a
2	POLR2A	chr12:57888966-57889388	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:57888933-57889406	A549	lung:	n/a	n/a

Variant related genes	Relation type
MARS	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1284465	0.83[AMR][1000 genomes]
rs1284606	0.89[AMR][1000 genomes]
rs1299737	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1629410	0.89[AMR][1000 genomes]
rs1669294	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1678537	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1709871	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1709874	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2620677	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2672571	0.85[AMR][1000 genomes]
rs2928382	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2943696	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs472895	0.81[AMR][1000 genomes]
rs474544	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4760273	0.82[EUR][1000 genomes]
rs496245	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs508904	0.83[AMR][1000 genomes]
rs511752	0.89[AMR][1000 genomes]
rs541869	0.83[AMR][1000 genomes]
rs569251	0.81[AMR][1000 genomes]
rs747340	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs776038	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs776039	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs796546	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7969683	0.83[EUR][1000 genomes]
rs9737891	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv899117	chr12:57811414-57926472	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
5	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
8	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
9	nsv469411	chr12:57844049-57921188	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
10	nsv559032	chr12:57844049-57921188	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
11	nsv559033	chr12:57848639-57946477	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
12	nsv899119	chr12:57851182-57923451	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
13	nsv559034	chr12:57859932-58012233	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
14	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
15	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
16	nsv899120	chr12:57886609-57921188	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57882800-57905800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:57883000-57910600	Weak transcription	Right Atrium	heart
3	chr12:57883200-57890000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:57883200-57893600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:57883200-57900600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:57883200-57900600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:57883200-57900800	Strong transcription	Thymus	Thymus
8	chr12:57883200-57902400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:57883200-57911200	Strong transcription	Fetal Intestine Small	intestine
10	chr12:57883400-57891200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:57883400-57900600	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr12:57883400-57900600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:57883400-57900600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:57883400-57900600	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:57883400-57900600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:57883400-57900600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:57883400-57900800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:57883400-57903000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:57883800-57899800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:57884000-57900600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:57884000-57900600	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:57884000-57902400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:57884000-57903200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:57884400-57894000	Weak transcription	Psoas Muscle	Psoas
25	chr12:57884400-57900800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:57885400-57890800	Weak transcription	Fetal Brain Male	brain
27	chr12:57885600-57891200	Weak transcription	Aorta	Aorta
28	chr12:57885600-57891200	Weak transcription	Fetal Kidney	kidney
29	chr12:57885600-57891800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr12:57885600-57893800	Weak transcription	Small Intestine	intestine
31	chr12:57885600-57911200	Weak transcription	Fetal Heart	heart
32	chr12:57885800-57890600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:57885800-57891800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr12:57885800-57893600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:57886200-57890600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:57886800-57889800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:57886800-57890400	Weak transcription	Gastric	stomach
38	chr12:57886800-57890600	Weak transcription	Fetal Brain Female	brain
39	chr12:57886800-57891200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:57886800-57891600	Weak transcription	Brain Angular Gyrus	brain
41	chr12:57886800-57891800	Weak transcription	Pancreas	Pancrea
42	chr12:57887000-57889200	Weak transcription	Placenta	Placenta
43	chr12:57887000-57889200	Weak transcription	Right Ventricle	heart
44	chr12:57887000-57889400	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr12:57887000-57889600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr12:57887000-57889800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:57887000-57889800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:57887000-57889800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:57887000-57889800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr12:57887000-57889800	Weak transcription	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links