Variant report

Variant	rs7294967
Chromosome Location	chr12:120546130-120546131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120541333..120544024-chr12:120545087..120548824,4	K562	blood:
2	chr12:120516503..120519028-chr12:120545885..120547617,3	MCF-7	breast:
3	chr12:120537177..120551260-chr12:120551865..120557471,32	MCF-7	breast:
4	chr12:120542957..120544587-chr12:120544592..120546280,3	MCF-7	breast:
5	chr12:120539799..120542911-chr12:120545962..120548810,4	MCF-7	breast:
6	chr12:120544989..120547921-chr12:120551976..120557751,6	K562	blood:

Variant related genes	Relation type
ENSG00000135127	Chromatin interaction
ENSG00000111737	Chromatin interaction

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

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

rs_ID	r²[population]
rs2301883	1.00[AFR][1000 genomes]
rs6490285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7135839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7307130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7312244	0.81[AFR][1000 genomes]
rs7954624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120525600-120551800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:120525800-120553400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:120527400-120546800	Strong transcription	Thymus	Thymus
4	chr12:120529000-120546800	Strong transcription	Dnd41	blood
5	chr12:120533800-120553000	Weak transcription	Fetal Kidney	kidney
6	chr12:120534400-120553200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:120534600-120546800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:120534600-120547200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:120534600-120548200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:120539200-120552600	Weak transcription	Fetal Brain Male	brain
11	chr12:120539600-120546600	Strong transcription	Fetal Brain Female	brain
12	chr12:120539600-120551600	Weak transcription	Fetal Lung	lung
13	chr12:120539600-120552200	Strong transcription	Fetal Stomach	stomach
14	chr12:120540000-120546400	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:120540000-120546800	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:120540000-120547600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:120540000-120553000	Weak transcription	HSMMtube	muscle
18	chr12:120540400-120546600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:120540400-120546600	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr12:120540600-120546400	Weak transcription	Psoas Muscle	Psoas
21	chr12:120540600-120546600	Strong transcription	Fetal Thymus	thymus
22	chr12:120540800-120546200	Weak transcription	Right Atrium	heart
23	chr12:120540800-120546600	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr12:120540800-120547200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:120541200-120546400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:120541200-120546600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:120541200-120546600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:120541200-120546800	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr12:120541200-120546800	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr12:120541200-120546800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr12:120541200-120546800	Strong transcription	NHEK	skin
32	chr12:120541400-120546600	Strong transcription	Fetal Muscle Leg	muscle
33	chr12:120541400-120547000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:120541600-120546600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr12:120541600-120548400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:120541600-120551000	Weak transcription	HSMM	muscle
37	chr12:120541800-120548800	Weak transcription	K562	blood
38	chr12:120541800-120552600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:120541800-120552800	Weak transcription	Brain Substantia Nigra	brain
40	chr12:120541800-120552800	Weak transcription	NH-A	brain
41	chr12:120542200-120553000	Weak transcription	Aorta	Aorta
42	chr12:120542400-120547600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr12:120542400-120548200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:120542400-120552400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:120543000-120547800	Weak transcription	Brain Anterior Caudate	brain
46	chr12:120543000-120552800	Weak transcription	Osteobl	bone
47	chr12:120543200-120547800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:120543200-120547800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:120543200-120548200	Weak transcription	Small Intestine	intestine
50	chr12:120543400-120546200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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