Variant report

Variant	rs74061155
Chromosome Location	chr12:12407672-12407673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12406030..12408982-chr12:12413928..12415647,2	MCF-7	breast:
2	chr12:12369208..12371594-chr12:12405892..12408383,3	K562	blood:
3	chr12:12407339..12409038-chr12:12417927..12420407,2	K562	blood:
4	chr12:12399729..12401467-chr12:12407423..12408972,2	K562	blood:
5	chr12:12405750..12410285-chr12:12418275..12422138,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070018	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11054762	1.00[ASN][1000 genomes]
rs11054765	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313063	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321230	1.00[ASN][1000 genomes]
rs57125171	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58389257	1.00[EUR][1000 genomes]
rs73275029	1.00[ASN][1000 genomes]
rs73275034	1.00[ASN][1000 genomes]
rs73275042	1.00[ASN][1000 genomes]
rs73293337	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061124	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061127	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061140	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061143	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061150	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061157	1.00[ASN][1000 genomes]
rs74061158	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv529005	chr12:12254756-12412795	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3427115	chr12:12262415-12432411	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12368400-12417200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:12384800-12417200	Weak transcription	K562	blood
3	chr12:12385000-12417800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:12385200-12409200	Weak transcription	Pancreas	Pancrea
5	chr12:12390000-12416600	Weak transcription	Psoas Muscle	Psoas
6	chr12:12390800-12417800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:12392400-12407800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:12392600-12408200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:12394200-12416800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:12394200-12417400	Weak transcription	Fetal Kidney	kidney
11	chr12:12394800-12417400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:12395600-12409200	Weak transcription	Ovary	ovary
13	chr12:12395600-12417400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:12397000-12408400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:12397400-12409600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:12397600-12409400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:12397600-12416600	Weak transcription	Fetal Stomach	stomach
18	chr12:12397800-12416800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:12397800-12417200	Weak transcription	Brain Anterior Caudate	brain
20	chr12:12401000-12408200	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:12401200-12408200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:12401200-12409200	Weak transcription	Right Atrium	heart
23	chr12:12401200-12418000	Weak transcription	Brain Substantia Nigra	brain
24	chr12:12402400-12417200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:12402800-12408000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:12403000-12408000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:12403600-12408200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:12405000-12416600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:12405200-12409200	Weak transcription	Lung	lung
30	chr12:12405200-12416600	Weak transcription	Left Ventricle	heart
31	chr12:12405600-12408000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:12405600-12417400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:12406000-12408200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:12406000-12412600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:12406200-12411800	Weak transcription	Fetal Intestine Small	intestine
36	chr12:12406400-12416800	Weak transcription	Hela-S3	cervix
37	chr12:12406600-12408400	Enhancers	Brain Germinal Matrix	brain
38	chr12:12406800-12409000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:12407200-12408400	Enhancers	NH-A	brain
40	chr12:12407200-12409200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:12407200-12410000	Enhancers	Liver	Liver
42	chr12:12407200-12410200	Enhancers	Osteobl	bone
43	chr12:12407400-12408000	Enhancers	Colon Smooth Muscle	Colon
44	chr12:12407400-12408400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr12:12407400-12408600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:12407400-12409000	Enhancers	HepG2	liver
47	chr12:12407400-12416600	Weak transcription	Fetal Brain Male	brain
48	chr12:12407600-12407800	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr12:12407600-12408000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:12407600-12408200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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