Variant report

Variant	rs56116608
Chromosome Location	chr2:20579309-20579310
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20525636..20526172-chr2:20578625..20579319,2	MCF-7	breast:
2	chr2:20577593..20583526-chr2:20584013..20588692,7	MCF-7	breast:
3	chr2:20573304..20576530-chr2:20577907..20583085,5	MCF-7	breast:
4	chr2:20579020..20581458-chr2:20591808..20594214,2	MCF-7	breast:
5	chr2:20558156..20560434-chr2:20578945..20580721,2	MCF-7	breast:
6	chr2:20578892..20581003-chr2:20669683..20672466,2	MCF-7	breast:
7	chr2:20578207..20580776-chr2:20580974..20582727,2	MCF-7	breast:
8	chr2:20565193..20568010-chr2:20578320..20581301,2	MCF-7	breast:
9	chr2:20571196..20572728-chr2:20579213..20580832,2	MCF-7	breast:
10	chr2:20578802..20580924-chr2:20708669..20710555,2	MCF-7	breast:
11	chr2:20549182..20552986-chr2:20577851..20580428,3	K562	blood:
12	chr2:20577324..20583172-chr2:20644517..20653341,20	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000232800	Chromatin interaction
ENSG00000055917	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000228950	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11096657	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2058553	0.85[ASN][1000 genomes]
rs2160071	0.85[ASN][1000 genomes]
rs4666384	0.85[ASN][1000 genomes]
rs4666385	0.88[ASN][1000 genomes]
rs62124605	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62124607	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[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	nsv873716	chr2:20572094-20621404	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20575400-20581000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:20577200-20579600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:20577800-20579600	Enhancers	Fetal Muscle Leg	muscle
4	chr2:20578000-20579400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:20578000-20579400	Flanking Bivalent TSS/Enh	HepG2	liver
6	chr2:20578200-20579400	Enhancers	Fetal Intestine Large	intestine
7	chr2:20578200-20579600	Enhancers	Fetal Heart	heart
8	chr2:20578200-20579600	Enhancers	Fetal Lung	lung
9	chr2:20578200-20581200	Enhancers	Fetal Muscle Trunk	muscle
10	chr2:20578400-20579400	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr2:20578400-20579400	Enhancers	Fetal Brain Male	brain
12	chr2:20578400-20579400	Enhancers	HSMMtube	muscle
13	chr2:20578400-20579400	Enhancers	K562	blood
14	chr2:20578400-20579600	Enhancers	Colon Smooth Muscle	Colon
15	chr2:20578400-20579600	Enhancers	Fetal Stomach	stomach
16	chr2:20578400-20579800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:20578600-20579400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:20578600-20579400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:20578600-20579400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:20578600-20579400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr2:20578600-20579400	Enhancers	Duodenum Mucosa	Duodenum
22	chr2:20578600-20579400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:20578600-20579400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr2:20578600-20579400	Enhancers	HMEC	breast
25	chr2:20578600-20579400	Enhancers	NHLF	lung
26	chr2:20578600-20579600	Enhancers	Left Ventricle	heart
27	chr2:20578600-20579600	Enhancers	Ovary	ovary
28	chr2:20578600-20580800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:20578800-20579400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:20578800-20579400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr2:20578800-20579400	Enhancers	Fetal Intestine Small	intestine
32	chr2:20578800-20579400	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr2:20578800-20579400	Enhancers	NHDF-Ad	bronchial
34	chr2:20578800-20579800	Enhancers	Brain Cingulate Gyrus	brain
35	chr2:20578800-20579800	Enhancers	Brain Substantia Nigra	brain
36	chr2:20579000-20579400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:20579000-20579400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:20579000-20579400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:20579000-20579400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:20579000-20579400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:20579000-20579400	Enhancers	Brain Anterior Caudate	brain
42	chr2:20579000-20579400	Enhancers	Psoas Muscle	Psoas
43	chr2:20579000-20579400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr2:20579000-20579400	Enhancers	Small Intestine	intestine
45	chr2:20579000-20579400	Enhancers	Stomach Mucosa	stomach
46	chr2:20579000-20579400	Enhancers	Osteobl	bone
47	chr2:20579000-20579600	Enhancers	Adipose Nuclei	Adipose
48	chr2:20579000-20579600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:20579000-20581200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:20579000-20581200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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