Variant report

Variant	rs12472984
Chromosome Location	chr2:37575097-37575098
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37573383..37576359-chr2:37576591..37578098,2	K562	blood:
2	chr2:37573509..37575748-chr2:37602573..37605323,2	MCF-7	breast:
3	chr2:37574642..37576209-chr2:37580099..37581679,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10189564	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12468307	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2241163	0.80[AMR][1000 genomes]
rs2255991	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28384455	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3755191	0.80[ASN][1000 genomes]
rs3755192	0.81[ASN][1000 genomes]
rs3770743	0.80[AMR][1000 genomes]
rs3770749	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3815555	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4384764	0.85[ASN][1000 genomes]
rs4670196	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60981509	0.80[AMR][1000 genomes]
rs952711	0.82[ASN][1000 genomes]
rs952712	0.82[ASN][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	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv2685	chr2:37550096-37594923	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37572400-37576000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:37572400-37576200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:37572400-37576600	Weak transcription	Spleen	Spleen
4	chr2:37572600-37575600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:37572600-37575800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:37572600-37575800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:37572600-37576600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:37572600-37576600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:37572600-37576600	Weak transcription	Fetal Kidney	kidney
10	chr2:37572600-37576600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:37572600-37576800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:37572600-37576800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:37572600-37577200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:37572600-37577200	Weak transcription	Liver	Liver
15	chr2:37572600-37577200	Weak transcription	Fetal Intestine Large	intestine
16	chr2:37572600-37577200	Weak transcription	Left Ventricle	heart
17	chr2:37572600-37595400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:37572800-37575200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:37572800-37575200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:37572800-37575200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:37572800-37575200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:37572800-37576000	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:37572800-37576000	Weak transcription	A549	lung
24	chr2:37572800-37576000	Weak transcription	NHDF-Ad	bronchial
25	chr2:37572800-37576200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:37572800-37576800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:37572800-37576800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:37572800-37577200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:37572800-37577200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:37572800-37577200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:37572800-37577200	Weak transcription	Right Atrium	heart
32	chr2:37572800-37577200	Weak transcription	HMEC	breast
33	chr2:37572800-37577200	Weak transcription	Osteobl	bone
34	chr2:37572800-37577600	Weak transcription	NHEK	skin
35	chr2:37573200-37575200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:37573200-37577000	Weak transcription	Adipose Nuclei	Adipose
37	chr2:37573400-37576000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr2:37573400-37576400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:37573400-37576600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:37573400-37577600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr2:37573600-37575600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:37573600-37578800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr2:37574200-37575400	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr2:37574200-37576000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr2:37574800-37575200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:37574800-37575400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr2:37575000-37575800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:37575000-37575800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:37575000-37578600	Enhancers	Cortex derived primary cultured neurospheres	brain

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