Variant report

Variant	rs12370694
Chromosome Location	chr12:50288486-50288487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50133876..50136071-chr12:50286990..50288779,2	MCF-7	breast:
2	chr12:50287732..50289351-chr12:50337980..50339700,2	MCF-7	breast:
3	chr12:50280227..50282176-chr12:50287942..50290577,2	K562	blood:
4	chr12:50281662..50285882-chr12:50286690..50289422,5	MCF-7	breast:
5	chr12:50286993..50289592-chr12:50396016..50398113,2	MCF-7	breast:
6	chr12:50285846..50288716-chr12:50291928..50294510,3	K562	blood:

Variant related genes	Relation type
ENSG00000161800	Chromatin interaction
ENSG00000135472	Chromatin interaction
ENSG00000139644	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1574598	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1878234	0.94[ASN][1000 genomes]
rs73116330	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs905619	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv525920	chr12:50285061-50304949	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50267000-50297000	Weak transcription	Right Atrium	heart
2	chr12:50275000-50294800	Weak transcription	Fetal Brain Male	brain
3	chr12:50283600-50290600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:50285400-50289800	Weak transcription	Fetal Brain Female	brain
5	chr12:50287000-50292000	Weak transcription	K562	blood
6	chr12:50287000-50295000	Strong transcription	Brain Germinal Matrix	brain
7	chr12:50287600-50289200	Flanking Active TSS	Hela-S3	cervix
8	chr12:50287600-50295800	Strong transcription	Fetal Stomach	stomach
9	chr12:50287800-50288600	Enhancers	Primary B cells from peripheral blood	blood
10	chr12:50287800-50288600	Enhancers	NH-A	brain
11	chr12:50287800-50288800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:50287800-50288800	Enhancers	A549	lung
13	chr12:50287800-50289000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:50287800-50289200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:50287800-50289600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr12:50287800-50290000	Enhancers	Stomach Mucosa	stomach
17	chr12:50287800-50290000	Enhancers	Spleen	Spleen
18	chr12:50287800-50291800	Enhancers	Esophagus	oesophagus
19	chr12:50288000-50288600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:50288000-50288600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:50288000-50288600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:50288000-50288600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:50288000-50288600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:50288000-50288800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr12:50288000-50288800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr12:50288000-50288800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:50288000-50288800	Enhancers	HUVEC	blood vessel
28	chr12:50288000-50289000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:50288000-50289000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:50288000-50289200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr12:50288000-50289200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr12:50288000-50289200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:50288000-50289200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:50288000-50289200	Genic enhancers	Brain Anterior Caudate	brain
35	chr12:50288000-50289600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:50288000-50290200	Genic enhancers	Brain Hippocampus Middle	brain
37	chr12:50288000-50290600	Genic enhancers	Brain Cingulate Gyrus	brain
38	chr12:50288000-50290800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:50288000-50291200	Genic enhancers	Brain Inferior Temporal Lobe	brain
40	chr12:50288200-50288800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr12:50288200-50289600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:50288200-50289600	Genic enhancers	Brain Substantia Nigra	brain
43	chr12:50288400-50288600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:50288400-50288800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:50288400-50288800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr12:50288400-50288800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:50288400-50288800	Enhancers	HMEC	breast
48	chr12:50288400-50289000	Enhancers	H9 Cell Line	embryonic stem cell
49	chr12:50288400-50289000	Enhancers	Placenta Amnion	Placenta Amnion
50	chr12:50288400-50289000	Enhancers	NHEK	skin

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