Variant report

Variant	rs7300684
Chromosome Location	chr12:122224817-122224818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122218052..122221666-chr12:122223927..122226116,4	MCF-7	breast:
2	chr12:122223822..122227581-chr12:122228011..122233010,8	K562	blood:

Variant related genes	Relation type
ENSG00000139725	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	0.92[EUR][1000 genomes]
rs1168663	0.86[ASN][1000 genomes]
rs1168664	0.86[ASN][1000 genomes]
rs1168666	0.86[ASN][1000 genomes]
rs1168671	0.86[ASN][1000 genomes]
rs1168673	0.86[ASN][1000 genomes]
rs11834522	0.95[EUR][1000 genomes]
rs11837955	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12299238	0.92[EUR][1000 genomes]
rs12303659	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12310051	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12312375	0.89[EUR][1000 genomes]
rs12314801	0.97[EUR][1000 genomes]
rs12318048	0.86[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs12832268	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12832320	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1667579	0.86[ASN][1000 genomes]
rs28493021	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34226605	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34415086	0.86[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs3741588	0.99[EUR][1000 genomes]
rs712852	0.86[ASN][1000 genomes]
rs7136373	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308123	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308348	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413728	0.86[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs73413732	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9282	0.97[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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122206400-122228200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:122206400-122230600	Weak transcription	Brain Angular Gyrus	brain
3	chr12:122206600-122226400	Weak transcription	Aorta	Aorta
4	chr12:122211600-122225000	Weak transcription	Psoas Muscle	Psoas
5	chr12:122211600-122231200	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:122211800-122231600	Weak transcription	Brain Substantia Nigra	brain
7	chr12:122214200-122228200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:122217800-122230400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:122219000-122225000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:122219000-122227400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:122219000-122229800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:122219200-122230600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:122219200-122230600	Weak transcription	Fetal Brain Female	brain
14	chr12:122219600-122230800	Weak transcription	Brain Germinal Matrix	brain
15	chr12:122220000-122225000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:122220200-122226600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:122220400-122230400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:122220400-122230600	Weak transcription	Brain Anterior Caudate	brain
19	chr12:122220600-122225000	Weak transcription	Fetal Heart	heart
20	chr12:122220600-122227000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:122220600-122227400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr12:122220600-122228000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:122220600-122230400	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:122220600-122230400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:122220800-122225000	Weak transcription	Fetal Stomach	stomach
26	chr12:122220800-122226400	Weak transcription	K562	blood
27	chr12:122220800-122227600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:122220800-122228000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:122220800-122228200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:122220800-122229600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:122221000-122225000	Weak transcription	Thymus	Thymus
32	chr12:122221200-122226000	Weak transcription	Left Ventricle	heart
33	chr12:122221200-122226400	Weak transcription	Lung	lung
34	chr12:122221200-122230600	Weak transcription	Right Atrium	heart
35	chr12:122221400-122225000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:122222600-122225000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:122223200-122226600	Weak transcription	Adipose Nuclei	Adipose
38	chr12:122223200-122227200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:122223200-122228000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:122223200-122231400	Weak transcription	HSMM	muscle
41	chr12:122223600-122228600	Enhancers	Placenta	Placenta
42	chr12:122224000-122225200	Enhancers	NHLF	lung
43	chr12:122224000-122225400	Enhancers	HUVEC	blood vessel
44	chr12:122224000-122227000	Genic enhancers	Fetal Thymus	thymus
45	chr12:122224000-122229400	Genic enhancers	Fetal Intestine Small	intestine
46	chr12:122224200-122225000	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr12:122224200-122225000	Enhancers	Fetal Muscle Leg	muscle
48	chr12:122224200-122225000	Genic enhancers	GM12878-XiMat	blood
49	chr12:122224200-122225200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:122224200-122225200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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