Variant report

Variant	rs478720
Chromosome Location	chr12:63201664-63201665
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:63199599..63203021-chr12:63327294..63329908,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111110	Chromatin interaction
ENSG00000252660	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2641550	0.85[AFR][1000 genomes]
rs2652028	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2652031	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2663955	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2663959	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2663961	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704758	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2704759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2704761	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2704763	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs479646	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500505	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs506821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs510656	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs518285	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs535206	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs536052	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs593350	0.86[ASN][1000 genomes]
rs627273	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs642388	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899160	chr12:63149213-63209623	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63175200-63206800	Weak transcription	Pancreas	Pancrea
2	chr12:63187800-63205200	Weak transcription	K562	blood
3	chr12:63187800-63206400	Weak transcription	Osteobl	bone
4	chr12:63187800-63206800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr12:63187800-63211400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:63188000-63206800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:63192800-63211400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:63193400-63206800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:63195400-63206000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:63195600-63211400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:63195600-63211400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:63195800-63228600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:63196000-63206600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:63196000-63206800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:63196000-63206800	Weak transcription	Fetal Intestine Large	intestine
16	chr12:63196000-63206800	Weak transcription	Right Ventricle	heart
17	chr12:63196000-63213600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:63196000-63213800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:63196000-63225800	Weak transcription	Gastric	stomach
20	chr12:63196400-63213600	Weak transcription	Fetal Intestine Small	intestine
21	chr12:63197400-63206600	Weak transcription	Brain Angular Gyrus	brain
22	chr12:63198000-63206000	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:63198000-63206600	Weak transcription	Brain Substantia Nigra	brain
24	chr12:63199200-63206600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr12:63200600-63206800	Weak transcription	Lung	lung
26	chr12:63201000-63201800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:63201200-63201800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:63201400-63202000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:63201400-63203400	Enhancers	GM12878-XiMat	blood
30	chr12:63201400-63207200	Strong transcription	HepG2	liver

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