Variant report

Variant	rs73323436
Chromosome Location	chr12:65106462-65106463
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:65104992..65106923-chr12:65174048..65175624,2	MCF-7	breast:
2	chr12:65099305..65100822-chr12:65105579..65107861,2	K562	blood:
3	chr12:65099188..65101990-chr12:65105656..65108050,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111490	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]
rs73323448	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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65075000-65108400	Weak transcription	NH-A	brain
2	chr12:65077200-65106800	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:65077400-65114800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:65080000-65113600	Weak transcription	Colonic Mucosa	Colon
5	chr12:65086400-65107800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:65087200-65108200	Weak transcription	Osteobl	bone
7	chr12:65088200-65109600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:65089000-65108400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:65089000-65109400	Weak transcription	Ovary	ovary
10	chr12:65089400-65114600	Weak transcription	Esophagus	oesophagus
11	chr12:65089600-65107000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:65089600-65108200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:65089600-65109200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:65089600-65109600	Weak transcription	Gastric	stomach
15	chr12:65089600-65109600	Weak transcription	NHLF	lung
16	chr12:65089600-65109800	Weak transcription	Thymus	Thymus
17	chr12:65089600-65113200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:65089800-65113200	Weak transcription	Right Ventricle	heart
19	chr12:65090200-65107800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:65090200-65108200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:65090200-65108600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:65090200-65109400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:65090200-65109800	Weak transcription	K562	blood
24	chr12:65090200-65114600	Weak transcription	Aorta	Aorta
25	chr12:65090400-65107600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:65090400-65108000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:65090400-65108400	Weak transcription	Fetal Lung	lung
28	chr12:65090400-65115200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:65090600-65106800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:65090800-65106800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:65090800-65107000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:65091000-65109200	Weak transcription	Hela-S3	cervix
33	chr12:65091600-65107800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:65092000-65108400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:65093800-65106800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:65093800-65108000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:65095000-65107000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:65095000-65108200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr12:65095200-65106600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:65095200-65108000	Weak transcription	A549	lung
41	chr12:65095400-65106800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr12:65095400-65108000	Weak transcription	Dnd41	blood
43	chr12:65095400-65108000	Weak transcription	GM12878-XiMat	blood
44	chr12:65095400-65109600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr12:65095600-65107800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:65095600-65109800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:65095600-65117400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:65096000-65108800	Weak transcription	Fetal Thymus	thymus
49	chr12:65096200-65117600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr12:65096400-65106800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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