Variant report

Variant	rs73323448
Chromosome Location	chr12:65117088-65117089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:65107946..65110017-chr12:65116445..65118854,2	K562	blood:
2	chr12:65115015..65118908-chr12:65120698..65124743,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135677	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17100600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17100604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17100611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73323431	0.83[AMR][1000 genomes]
rs73323436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73323462	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv899209	chr12:65068686-65184236	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv899210	chr12:65076498-65184236	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65095600-65117400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:65096200-65117600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:65103400-65123000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:65104800-65120800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:65105400-65118600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:65105800-65122800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:65106200-65122800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr12:65106200-65122800	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:65106400-65123800	Strong transcription	Liver	Liver
10	chr12:65106400-65152600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:65106600-65125800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:65106800-65117200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:65106800-65117600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:65106800-65118200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr12:65106800-65119200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:65106800-65123000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:65107000-65118000	Strong transcription	Primary hematopoietic stem cells	blood
18	chr12:65107600-65117400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:65107600-65118800	Strong transcription	Lung	lung
20	chr12:65107600-65122800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:65107800-65117400	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:65108000-65117200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:65108000-65118200	Strong transcription	Dnd41	blood
24	chr12:65108000-65119200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:65108200-65118200	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:65108200-65118200	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr12:65108200-65119200	Strong transcription	Duodenum Mucosa	Duodenum
28	chr12:65108400-65118200	Strong transcription	Brain Anterior Caudate	brain
29	chr12:65108400-65118800	Strong transcription	Fetal Stomach	stomach
30	chr12:65108400-65123400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:65108400-65127400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr12:65108600-65117600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:65108600-65118800	Strong transcription	Left Ventricle	heart
34	chr12:65108800-65117200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:65109400-65117800	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:65109400-65119000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:65109400-65119200	Strong transcription	Ovary	ovary
38	chr12:65109400-65121000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:65109600-65117200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:65109600-65122000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:65109800-65117400	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:65110400-65118200	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:65110600-65117200	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr12:65110600-65138400	Weak transcription	Stomach Mucosa	stomach
45	chr12:65111000-65127200	Weak transcription	Hela-S3	cervix
46	chr12:65111400-65122800	Strong transcription	Fetal Intestine Small	intestine
47	chr12:65111600-65146800	Strong transcription	Fetal Intestine Large	intestine
48	chr12:65112000-65117400	Strong transcription	Primary T cells from cord blood	blood
49	chr12:65112400-65117400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:65112400-65118200	Strong transcription	Primary B cells from cord blood	blood

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