Variant report

Variant	rs2576053
Chromosome Location	chr18:44700859-44700860
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:44675372..44679287-chr18:44700113..44704114,10	MCF-7	breast:
2	chr18:44675406..44678402-chr18:44700257..44702641,2	K562	blood:
3	chr18:44676902..44678518-chr18:44699803..44701757,2	K562	blood:
4	chr18:44675848..44678361-chr18:44699497..44704011,6	MCF-7	breast:
5	chr18:44495357..44497403-chr18:44700842..44702618,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078043	Chromatin interaction
ENSG00000167220	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11663321	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12960378	0.83[EUR][1000 genomes]
rs12960444	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12963648	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12964465	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2251948	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2277717	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2461247	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2571001	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2571009	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2571016	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2576030	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2576031	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2576056	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2576060	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2635040	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2635041	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2635043	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2635045	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2635046	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2635047	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2635049	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2635050	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2668779	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2684818	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2684820	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2684822	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2684825	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2684826	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28693565	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28702976	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2932126	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3816125	0.82[EUR][1000 genomes]
rs7242978	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7504798	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9304341	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9960264	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv833640	chr18:44552276-44714872	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv3412252	chr18:44684003-44711534	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44677800-44701000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:44677800-44701000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr18:44677800-44701000	Weak transcription	A549	lung
4	chr18:44677800-44701800	Weak transcription	Esophagus	oesophagus
5	chr18:44678000-44701000	Weak transcription	Fetal Stomach	stomach
6	chr18:44678200-44701000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr18:44678200-44701200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr18:44678200-44701200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr18:44681800-44701000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr18:44681800-44701000	Weak transcription	Fetal Thymus	thymus
11	chr18:44681800-44701200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr18:44682400-44701000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr18:44683000-44701000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr18:44683000-44701200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr18:44686800-44701200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr18:44687400-44701000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr18:44687600-44701000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr18:44688000-44701000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr18:44688200-44702200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr18:44689000-44701000	Weak transcription	Primary B cells from cord blood	blood
21	chr18:44690000-44701000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr18:44690200-44701000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr18:44690200-44701000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr18:44690200-44701000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr18:44690600-44701000	Weak transcription	Osteobl	bone
26	chr18:44693800-44701800	Weak transcription	Gastric	stomach
27	chr18:44695600-44701000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr18:44698200-44701000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr18:44698600-44701200	Enhancers	K562	blood
30	chr18:44698600-44701600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr18:44699000-44701000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr18:44699000-44701000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr18:44699000-44701000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr18:44699000-44701000	Enhancers	Dnd41	blood
35	chr18:44699000-44701000	Enhancers	HepG2	liver
36	chr18:44699200-44701000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr18:44699200-44701000	Weak transcription	NHLF	lung
38	chr18:44699400-44701000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr18:44699400-44701000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr18:44699400-44701000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr18:44699600-44701000	Enhancers	Adipose Nuclei	Adipose
42	chr18:44699600-44701000	Enhancers	Colon Smooth Muscle	Colon
43	chr18:44699600-44701000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr18:44699600-44701400	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr18:44699800-44701000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr18:44699800-44701000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr18:44699800-44701000	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr18:44699800-44701600	Enhancers	Left Ventricle	heart
49	chr18:44700000-44701000	Enhancers	Pancreas	Pancrea
50	chr18:44700000-44701000	Enhancers	Psoas Muscle	Psoas

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