Variant report

Variant	rs73413732
Chromosome Location	chr12:122223490-122223491
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122212881..122214653-chr12:122222807..122224328,2	MCF-7	breast:
2	chr12:122217066..122219995-chr12:122220346..122223627,4	MCF-7	breast:
3	chr12:122122765..122125125-chr12:122221091..122223983,2	K562	blood:
4	chr12:122222027..122223531-chr12:122224930..122227928,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188735	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10082850	0.86[EUR][1000 genomes]
rs1168663	0.83[ASN][1000 genomes]
rs1168664	0.83[ASN][1000 genomes]
rs1168666	0.83[ASN][1000 genomes]
rs1168671	0.83[ASN][1000 genomes]
rs1168673	0.83[ASN][1000 genomes]
rs11834522	0.88[EUR][1000 genomes]
rs11837955	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12299238	0.86[EUR][1000 genomes]
rs12303659	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12310051	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12312375	0.83[EUR][1000 genomes]
rs12314801	0.90[EUR][1000 genomes]
rs12318048	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12832268	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12832320	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1667579	0.83[ASN][1000 genomes]
rs28493021	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34226605	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34415086	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3741588	0.92[EUR][1000 genomes]
rs712852	0.83[ASN][1000 genomes]
rs7136373	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7300684	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7308123	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7308348	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73413728	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9282	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv899566	chr12:122167095-122265106	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv899567	chr12:122203680-122281575	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122183800-122224400	Weak transcription	Small Intestine	intestine
2	chr12:122206400-122228200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:122206400-122230600	Weak transcription	Brain Angular Gyrus	brain
4	chr12:122206600-122226400	Weak transcription	Aorta	Aorta
5	chr12:122211600-122225000	Weak transcription	Psoas Muscle	Psoas
6	chr12:122211600-122231200	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:122211800-122231600	Weak transcription	Brain Substantia Nigra	brain
8	chr12:122214200-122228200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:122214600-122224200	Weak transcription	Pancreas	Pancrea
10	chr12:122214600-122224800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:122217800-122230400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:122219000-122225000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:122219000-122227400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:122219000-122229800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:122219200-122224200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:122219200-122224200	Weak transcription	Gastric	stomach
17	chr12:122219200-122224400	Weak transcription	Dnd41	blood
18	chr12:122219200-122230600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:122219200-122230600	Weak transcription	Fetal Brain Female	brain
20	chr12:122219600-122230800	Weak transcription	Brain Germinal Matrix	brain
21	chr12:122219800-122224200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:122220000-122225000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:122220200-122224200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:122220200-122224200	Enhancers	Primary B cells from peripheral blood	blood
25	chr12:122220200-122226600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:122220400-122224200	Enhancers	Primary B cells from cord blood	blood
27	chr12:122220400-122230400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:122220400-122230600	Weak transcription	Brain Anterior Caudate	brain
29	chr12:122220600-122223600	Weak transcription	Placenta	Placenta
30	chr12:122220600-122224400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:122220600-122224400	Weak transcription	Esophagus	oesophagus
32	chr12:122220600-122225000	Weak transcription	Fetal Heart	heart
33	chr12:122220600-122227000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:122220600-122227400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:122220600-122228000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:122220600-122230400	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:122220600-122230400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr12:122220800-122224200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:122220800-122224200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:122220800-122224200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:122220800-122224200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr12:122220800-122224200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr12:122220800-122225000	Weak transcription	Fetal Stomach	stomach
44	chr12:122220800-122226400	Weak transcription	K562	blood
45	chr12:122220800-122227600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr12:122220800-122228000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:122220800-122228200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:122220800-122229600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr12:122221000-122224400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr12:122221000-122225000	Weak transcription	Thymus	Thymus

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