Variant report

Variant	rs12465231
Chromosome Location	chr2:64676888-64676889
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64674724..64677708-chr2:64680770..64682487,2	MCF-7	breast:
2	chr2:64674149..64677199-chr2:64681068..64683820,3	K562	blood:
3	chr2:64675160..64678032-chr2:64678674..64681637,2	K562	blood:

Variant related genes	Relation type
ENSG00000119862	Chromatin interaction
ENSG00000223935	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4671089	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	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv834245	chr2:64623049-64816185	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64633600-64679600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:64660200-64680000	Weak transcription	Pancreas	Pancrea
3	chr2:64669600-64680600	Weak transcription	Ovary	ovary
4	chr2:64670400-64680000	Weak transcription	Lung	lung
5	chr2:64670600-64677600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:64670600-64680600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:64671200-64677200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:64671400-64680000	Weak transcription	Aorta	Aorta
9	chr2:64674800-64680200	Weak transcription	Fetal Stomach	stomach
10	chr2:64675000-64680600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:64675400-64679600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:64675400-64679800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:64675400-64680800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:64675600-64677200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:64675600-64679800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:64675600-64679800	Weak transcription	HMEC	breast
17	chr2:64675600-64679800	Weak transcription	NHEK	skin
18	chr2:64675600-64680000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:64675600-64680000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:64675600-64680000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:64675600-64680000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:64675600-64680000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:64675600-64680600	Weak transcription	Left Ventricle	heart
24	chr2:64675800-64680000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:64675800-64680600	Weak transcription	Brain Germinal Matrix	brain
26	chr2:64676000-64680000	Weak transcription	Adipose Nuclei	Adipose
27	chr2:64676000-64680200	Weak transcription	Fetal Heart	heart
28	chr2:64676200-64679800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:64676200-64679800	Weak transcription	Liver	Liver
30	chr2:64676200-64679800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:64676200-64680000	Weak transcription	Brain Anterior Caudate	brain
32	chr2:64676200-64680000	Weak transcription	Psoas Muscle	Psoas
33	chr2:64676400-64680000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:64676400-64680000	Weak transcription	Fetal Brain Male	brain
35	chr2:64676400-64680000	Weak transcription	Fetal Brain Female	brain
36	chr2:64676800-64677400	Enhancers	Fetal Intestine Large	intestine

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