Variant report

Variant	rs4143878
Chromosome Location	chr12:63050333-63050334
allele	A/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:5)
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	YY1	chr12:63050254-63050618	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr12:63050295-63050789	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:63038732..63045047-chr12:63045521..63050769,8	MCF-7	breast:
2	chr12:63041505..63044112-chr12:63048353..63051271,2	K562	blood:
3	chr12:63045607..63047672-chr12:63047992..63050853,2	MCF-7	breast:
4	chr12:63033523..63036576-chr12:63048236..63051524,3	K562	blood:
5	chr12:63045714..63050618-chr12:63051733..63055030,6	MCF-7	breast:

No data

Variant related genes	Relation type
RPL32P26	TF binding region
ENSG00000241941	Chromatin interaction
ENSG00000238475	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10506444	0.81[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs10735911	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10747969	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174585	0.88[ASN][1000 genomes]
rs11174593	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12229426	0.89[ASN][1000 genomes]
rs12812936	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1498716	0.81[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2047480	0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4763186	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4763187	0.81[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4763188	0.81[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4763189	0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4763190	0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7135812	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs964644	0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9971786	0.81[CHB][hapmap];0.80[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv741	chr12:63038255-63064846	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63035200-63069800	Weak transcription	Left Ventricle	heart
2	chr12:63037200-63050800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:63037200-63069600	Weak transcription	Fetal Intestine Large	intestine
4	chr12:63039200-63070000	Weak transcription	Pancreas	Pancrea
5	chr12:63041600-63053600	Weak transcription	Osteobl	bone
6	chr12:63042200-63050400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:63045000-63053400	Weak transcription	Fetal Kidney	kidney
8	chr12:63045600-63051000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
9	chr12:63045800-63054000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:63046000-63054000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:63047000-63051800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:63047200-63054000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:63047400-63053800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:63047600-63051400	Strong transcription	Fetal Intestine Small	intestine
15	chr12:63047600-63054000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:63047600-63058000	Weak transcription	A549	lung
17	chr12:63047800-63053400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:63047800-63057200	Weak transcription	Lung	lung
19	chr12:63047800-63062000	Weak transcription	Stomach Mucosa	stomach
20	chr12:63047800-63069600	Weak transcription	Liver	Liver
21	chr12:63048000-63051000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:63048000-63054000	Enhancers	Brain Substantia Nigra	brain
23	chr12:63048200-63051000	Strong transcription	HepG2	liver
24	chr12:63048400-63051200	Enhancers	Fetal Muscle Leg	muscle
25	chr12:63048600-63050800	Weak transcription	Dnd41	blood
26	chr12:63048600-63051400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:63049000-63052000	Enhancers	Brain Anterior Caudate	brain
28	chr12:63049000-63054800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:63049000-63069600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:63049000-63070000	Weak transcription	Gastric	stomach
31	chr12:63049200-63050600	Weak transcription	Fetal Thymus	thymus
32	chr12:63049200-63051400	Enhancers	Brain Hippocampus Middle	brain
33	chr12:63049200-63052400	Weak transcription	Aorta	Aorta
34	chr12:63049200-63052600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:63049200-63053000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr12:63049200-63054600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr12:63049200-63055400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:63049200-63070000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:63049400-63050600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:63049400-63050800	Weak transcription	Primary T cells from cord blood	blood
41	chr12:63049400-63051000	Enhancers	Brain Germinal Matrix	brain
42	chr12:63049400-63051000	Enhancers	Fetal Brain Female	brain
43	chr12:63049400-63051400	Enhancers	Brain Angular Gyrus	brain
44	chr12:63049400-63051400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr12:63049400-63057000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:63049600-63051000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr12:63049600-63051200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:63049600-63051200	Enhancers	Fetal Brain Male	brain
49	chr12:63049600-63051200	Enhancers	Fetal Muscle Trunk	muscle
50	chr12:63049600-63051800	Enhancers	Brain Cingulate Gyrus	brain

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