Variant report

Variant	rs73289695
Chromosome Location	chr12:12633672-12633673
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	chr12:12632750..12635590-chr12:12714225..12715845,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111266	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs58199331	1.00[AFR][1000 genomes]
rs7303633	1.00[AFR][1000 genomes]
rs73289691	1.00[AFR][1000 genomes]
rs73289701	1.00[AFR][1000 genomes]
rs73291606	1.00[AFR][1000 genomes]
rs73291612	1.00[AFR][1000 genomes]
rs73291624	1.00[AFR][1000 genomes]
rs73291699	1.00[AFR][1000 genomes]
rs73291700	0.90[AFR][1000 genomes]
rs73293605	1.00[AFR][1000 genomes]
rs73293611	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr12:12603800-12639200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:12610800-12658000	Weak transcription	NHDF-Ad	bronchial
3	chr12:12618400-12642200	Weak transcription	Stomach Mucosa	stomach
4	chr12:12619000-12634000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:12621400-12636000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:12621400-12645400	Weak transcription	Small Intestine	intestine
7	chr12:12621600-12635800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:12621600-12646000	Weak transcription	Psoas Muscle	Psoas
9	chr12:12621600-12646200	Weak transcription	Brain Germinal Matrix	brain
10	chr12:12621800-12634000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:12622600-12653800	Weak transcription	Fetal Heart	heart
12	chr12:12624000-12638000	Weak transcription	HMEC	breast
13	chr12:12625200-12634000	Strong transcription	Fetal Intestine Small	intestine
14	chr12:12626000-12635800	Strong transcription	Fetal Intestine Large	intestine
15	chr12:12626200-12634600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:12626400-12639000	Strong transcription	Placenta	Placenta
17	chr12:12626600-12634400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:12626600-12636600	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:12626600-12636800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:12626600-12639200	Strong transcription	Liver	Liver
21	chr12:12626800-12640400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:12626800-12653600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:12627000-12635800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:12627000-12636000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:12627200-12634400	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:12627200-12635000	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr12:12627200-12636800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:12627400-12634600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:12627400-12636600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:12627400-12639200	Strong transcription	HepG2	liver
31	chr12:12627400-12640000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:12627600-12635600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr12:12627600-12636800	Strong transcription	Adipose Nuclei	Adipose
34	chr12:12627600-12637200	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr12:12627600-12640200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:12627600-12642400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:12627800-12636800	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:12627800-12646200	Weak transcription	Fetal Brain Male	brain
39	chr12:12628000-12634000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr12:12628200-12636200	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:12628400-12636800	Strong transcription	Stomach Smooth Muscle	stomach
42	chr12:12628400-12639800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:12628600-12634000	Strong transcription	Fetal Thymus	thymus
44	chr12:12628600-12635600	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr12:12628600-12647600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr12:12628800-12636600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:12628800-12655800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:12629400-12636600	Strong transcription	Left Ventricle	heart
49	chr12:12629600-12634000	Weak transcription	NH-A	brain
50	chr12:12629800-12634800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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