Variant report

Variant	rs62147731
Chromosome Location	chr2:73257244-73257245
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73254347..73256167-chr2:73257234..73261154,3	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10496188	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13404068	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17008541	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17008565	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17008579	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17008608	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2421099	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3849393	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58731407	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59108557	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61164794	0.96[EUR][1000 genomes]
rs61652727	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62147718	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62147722	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62147726	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62147727	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62147728	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62147733	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62147735	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62147756	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62148129	0.81[AMR][1000 genomes]
rs62148130	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66570372	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6710911	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6753054	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6753133	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6753301	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67673165	0.83[AMR][1000 genomes];0.95[EUR][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	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73207800-73263200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:73211000-73258400	Weak transcription	Colonic Mucosa	Colon
3	chr2:73214200-73286400	Weak transcription	Psoas Muscle	Psoas
4	chr2:73215800-73263000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:73220600-73263200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:73221200-73263000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:73223200-73274600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:73224600-73261200	Weak transcription	Brain Substantia Nigra	brain
9	chr2:73233200-73270800	Weak transcription	Brain Germinal Matrix	brain
10	chr2:73236000-73264200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:73236800-73258800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:73246400-73263400	Weak transcription	K562	blood
13	chr2:73246400-73263600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:73246400-73277400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:73246600-73283800	Weak transcription	Hela-S3	cervix
16	chr2:73247400-73283800	Weak transcription	Dnd41	blood
17	chr2:73248200-73277200	Weak transcription	HMEC	breast
18	chr2:73248800-73261200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:73249000-73263600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:73249000-73270200	Weak transcription	Fetal Thymus	thymus
21	chr2:73249200-73265200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:73249200-73276000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:73249400-73258200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:73249400-73258400	Weak transcription	A549	lung
25	chr2:73249400-73258800	Weak transcription	Pancreas	Pancrea
26	chr2:73249400-73259200	Weak transcription	Gastric	stomach
27	chr2:73249400-73260600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:73249400-73263000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:73249400-73265200	Weak transcription	Left Ventricle	heart
30	chr2:73249400-73267600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:73249400-73267600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:73249400-73284200	Weak transcription	Aorta	Aorta
33	chr2:73249400-73290000	Weak transcription	HUVEC	blood vessel
34	chr2:73249600-73258400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr2:73249600-73259000	Weak transcription	Primary B cells from cord blood	blood
36	chr2:73249600-73261000	Weak transcription	Adipose Nuclei	Adipose
37	chr2:73249600-73263000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:73249600-73263000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:73249600-73263200	Weak transcription	Esophagus	oesophagus
40	chr2:73249600-73263400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:73249600-73263800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:73249600-73264000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:73249600-73264000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:73249600-73266400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:73249600-73267600	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:73249600-73267600	Weak transcription	Lung	lung
47	chr2:73249600-73267800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:73249600-73271800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:73249600-73277000	Weak transcription	NH-A	brain
50	chr2:73249600-73290000	Weak transcription	NHLF	lung

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