Variant report

Variant	rs73259472
Chromosome Location	chr12:4757098-4757099
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:4)
LncRNA
region (count:2)
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	ESRRA	chr12:4756578-4758766	GM12878	blood:	n/a	chr12:4757367-4757376
2	POLR2A	chr12:4756960-4758649	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:4757018..4762059-chr12:4764285..4767290,6	K562	blood:
2	chr12:4756861..4759668-chr12:4760395..4765208,7	MCF-7	breast:
3	chr12:4757063..4759938-chr12:4760465..4764038,5	K562	blood:
4	chr12:4754845..4760714-chr12:4761830..4765057,7	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-234B24.6.1-1	chr12:4757002-4757193	ENSG00000256381
2	lnc-AKAP3-3	chr12:4756240-4758165	NONHSAT025970

No data

Variant related genes	Relation type
NDUFA9	TF binding region
AKAP3	TF binding region
ENSG00000255639	Chromatin interaction
ENSG00000139180	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73257493	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv898617	chr12:4715082-4768619	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv898618	chr12:4726068-4764137	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv898619	chr12:4737715-4771456	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv898620	chr12:4745313-4771456	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv557125	chr12:4748410-4764137	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1036308	chr12:4748657-4804156	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv898621	chr12:4751798-4768193	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv898622	chr12:4751798-4768619	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv898623	chr12:4751798-4771456	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4737600-4757400	Weak transcription	Pancreas	Pancrea
2	chr12:4737800-4757200	Weak transcription	Brain Anterior Caudate	brain
3	chr12:4745400-4757200	Weak transcription	Brain Substantia Nigra	brain
4	chr12:4754400-4757200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:4754800-4757200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:4755000-4757400	Weak transcription	Aorta	Aorta
7	chr12:4756400-4757600	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr12:4756600-4757200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:4756800-4757200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:4756800-4757200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:4756800-4757200	Enhancers	Primary B cells from cord blood	blood
12	chr12:4756800-4757200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:4756800-4757200	Enhancers	Fetal Intestine Small	intestine
14	chr12:4756800-4757200	Enhancers	Fetal Kidney	kidney
15	chr12:4756800-4757200	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr12:4756800-4757200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr12:4756800-4757200	Enhancers	HepG2	liver
18	chr12:4756800-4757400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr12:4756800-4757400	Enhancers	Liver	Liver
20	chr12:4756800-4757400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr12:4756800-4757400	Enhancers	Stomach Mucosa	stomach
22	chr12:4756800-4757400	Enhancers	Thymus	Thymus
23	chr12:4756800-4757800	Flanking Active TSS	GM12878-XiMat	blood
24	chr12:4757000-4757200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:4757000-4757200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:4757000-4757200	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr12:4757000-4757200	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr12:4757000-4757200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:4757000-4757200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:4757000-4757200	Enhancers	Primary hematopoietic stem cells	blood
31	chr12:4757000-4757200	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr12:4757000-4757200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr12:4757000-4757200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr12:4757000-4757200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr12:4757000-4757200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:4757000-4757200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:4757000-4757200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:4757000-4757200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:4757000-4757200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr12:4757000-4757200	Enhancers	Colon Smooth Muscle	Colon
41	chr12:4757000-4757200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr12:4757000-4757200	Enhancers	Fetal Brain Female	brain
43	chr12:4757000-4757200	Enhancers	Rectal Smooth Muscle	rectum
44	chr12:4757000-4757200	Enhancers	Hela-S3	cervix
45	chr12:4757000-4757400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:4757000-4757400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:4757000-4757400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr12:4757000-4757400	Enhancers	Primary B cells from peripheral blood	blood
49	chr12:4757000-4757400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:4757000-4757400	Enhancers	Primary T killer memory cells from peripheral blood	blood

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