Variant report

Variant	rs904614
Chromosome Location	chr12:106698334-106698335
allele	A/C
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	chr12:106696219-106699729	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr12:106695130-106701174	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr12:106695337-106698372	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr12:106695054-106698508	IMR90	lung:	n/a	n/a
5	SREBP1	chr12:106696177-106698584	GM12878	blood:	n/a	chr12:106697160-106697174

No.	Distal block	Cell Line	Cell type
1	chr12:106693434..106696954-chr12:106697519..106701215,4	MCF-7	breast:
2	chr12:106695715..106698780-chr12:106751795..106753760,4	K562	blood:
3	chr12:106694726..106698780-chr12:106749876..106753760,9	K562	blood:
4	chr12:106640063..106644049-chr12:106694395..106698756,11	MCF-7	breast:

Variant related genes	Relation type
CKAP4	TF binding region
ENSG00000166046	Chromatin interaction
ENSG00000258355	Chromatin interaction
ENSG00000136026	Chromatin interaction
ENSG00000013503	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10861572	0.94[ASN][1000 genomes]
rs10861574	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10861575	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11112931	0.93[ASN][1000 genomes]
rs1532587	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2077730	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2250108	0.85[ASN][1000 genomes]
rs2250705	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2250708	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2250709	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2250713	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2250936	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2264757	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2264762	0.81[AMR][1000 genomes]
rs2264814	0.83[AMR][1000 genomes]
rs2264815	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2264816	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2279759	0.98[ASN][1000 genomes]
rs2465356	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35816179	0.94[ASN][1000 genomes]
rs36139467	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7314289	0.94[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	esv1794382	chr12:106679812-106699151	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106697200-106698600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:106697200-106698600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr12:106697200-106700000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr12:106697200-106700000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr12:106697200-106702600	Enhancers	Fetal Heart	heart
6	chr12:106697400-106698400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:106697400-106698400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:106697400-106699400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:106697600-106698400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:106697600-106698400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr12:106697600-106698400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr12:106697600-106698400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr12:106697600-106698400	Flanking Active TSS	Brain Angular Gyrus	brain
14	chr12:106697600-106698400	Flanking Active TSS	Left Ventricle	heart
15	chr12:106697600-106698400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr12:106697600-106698600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr12:106697600-106698600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:106697600-106698800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:106697600-106698800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr12:106697600-106698800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr12:106697600-106699000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr12:106697600-106699200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:106697600-106699200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:106697600-106699200	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
25	chr12:106697600-106699800	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr12:106697600-106700000	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr12:106697600-106700600	Weak transcription	A549	lung
28	chr12:106697800-106698400	Enhancers	Fetal Lung	lung
29	chr12:106697800-106698400	Flanking Active TSS	Right Ventricle	heart
30	chr12:106697800-106699000	Enhancers	Ovary	ovary
31	chr12:106697800-106699200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr12:106697800-106699400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:106697800-106699400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:106697800-106699400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr12:106697800-106699800	Enhancers	Gastric	stomach
36	chr12:106697800-106700600	Enhancers	Stomach Mucosa	stomach
37	chr12:106697800-106701200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr12:106697800-106702800	Weak transcription	NHEK	skin
39	chr12:106697800-106703400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:106697800-106703600	Enhancers	Fetal Intestine Large	intestine
41	chr12:106698000-106698400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:106698000-106698400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:106698000-106698400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:106698000-106698400	Enhancers	NHDF-Ad	bronchial
45	chr12:106698000-106698600	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
46	chr12:106698000-106698600	Weak transcription	Aorta	Aorta
47	chr12:106698000-106698600	Active TSS	Esophagus	oesophagus
48	chr12:106698000-106698800	Enhancers	Fetal Thymus	thymus
49	chr12:106698000-106699000	Enhancers	Fetal Brain Female	brain
50	chr12:106698000-106699000	Enhancers	Hela-S3	cervix

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