Variant report

Variant	rs2264778
Chromosome Location	chr12:121450354-121450355
allele	G/T
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:6)
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	POLR2A	chr12:121449518-121450376	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:121450311-121450672	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121445828..121451054-chr12:121451445..121454709,11	K562	blood:
2	chr12:121443137..121445900-chr12:121447661..121451218,5	K562	blood:
3	chr12:121447431..121451051-chr12:121452490..121455717,3	MCF-7	breast:
4	chr12:121017466..121019085-chr12:121449555..121451669,2	MCF-7	breast:
5	chr12:121445828..121450860-chr12:121451549..121454387,9	K562	blood:
6	chr12:121443137..121444963-chr12:121449625..121451218,2	K562	blood:

No data

Variant related genes	Relation type
C12orf43	TF binding region
ENSG00000167272	Chromatin interaction
ENSG00000157895	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10849829	0.82[ASN][1000 genomes]
rs1169279	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1169281	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1169299	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1169300	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1169301	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1169302	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1169303	0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1169314	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1169315	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1182933	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2254971	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2257764	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2258043	0.98[ASN][1000 genomes]
rs2258287	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2259690	0.98[ASN][1000 genomes]
rs2259693	0.98[ASN][1000 genomes]
rs2259777	0.97[ASN][1000 genomes]
rs2259883	0.89[ASN][1000 genomes]
rs2260399	0.82[ASN][1000 genomes]
rs2260445	0.83[ASN][1000 genomes]
rs2260446	0.83[ASN][1000 genomes]
rs2264750	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2464196	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2701189	0.80[ASN][1000 genomes]
rs4278584	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv1037195	chr12:121408540-121470375	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1039216	chr12:121421701-121538491	Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121429800-121451600	Strong transcription	Rectal Mucosa Donor 29	rectum
2	chr12:121436600-121452800	Weak transcription	Fetal Heart	heart
3	chr12:121437600-121452000	Strong transcription	Fetal Stomach	stomach
4	chr12:121437600-121453000	Weak transcription	Fetal Brain Male	brain
5	chr12:121437600-121453600	Weak transcription	Right Atrium	heart
6	chr12:121437800-121451200	Strong transcription	A549	lung
7	chr12:121438400-121451200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:121438400-121451400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:121438600-121451200	Strong transcription	Spleen	Spleen
10	chr12:121438600-121451400	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:121438600-121451400	Strong transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:121438600-121451600	Strong transcription	Primary T cells from cord blood	blood
13	chr12:121438600-121451800	Strong transcription	Fetal Muscle Trunk	muscle
14	chr12:121438800-121450400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:121438800-121451200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:121438800-121451400	Strong transcription	Fetal Muscle Leg	muscle
17	chr12:121438800-121451600	Strong transcription	Stomach Smooth Muscle	stomach
18	chr12:121438800-121451800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:121438800-121451800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:121438800-121451800	Strong transcription	Fetal Brain Female	brain
21	chr12:121439000-121451200	Strong transcription	Brain Germinal Matrix	brain
22	chr12:121439000-121451400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:121439000-121451600	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr12:121439000-121451800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:121439200-121450400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr12:121439200-121451600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:121439200-121451800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:121439400-121451400	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr12:121439400-121451400	Strong transcription	Adipose Nuclei	Adipose
30	chr12:121439400-121451600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:121439400-121451600	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr12:121439400-121451800	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:121439600-121451000	Strong transcription	Right Ventricle	heart
34	chr12:121439600-121451600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:121439600-121451600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:121439600-121451800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:121439600-121453600	Weak transcription	Stomach Mucosa	stomach
38	chr12:121439800-121450400	Strong transcription	Thymus	Thymus
39	chr12:121439800-121451000	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr12:121439800-121451000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:121439800-121451400	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:121439800-121451600	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr12:121440000-121451400	Strong transcription	Ovary	ovary
44	chr12:121440000-121451800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:121440200-121451000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:121440400-121451400	Strong transcription	Fetal Thymus	thymus
47	chr12:121440400-121451400	Strong transcription	Left Ventricle	heart
48	chr12:121440400-121451800	Strong transcription	Primary B cells from peripheral blood	blood
49	chr12:121440600-121450400	Strong transcription	Fetal Lung	lung
50	chr12:121441000-121450600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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