Variant report

Variant	rs2372998
Chromosome Location	chr2:37573556-37573557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10179447	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10196818	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10865124	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11124581	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2270331	0.93[EUR][1000 genomes]
rs2372999	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3770751	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3770755	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770756	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3821142	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4670692	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708524	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7600995	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37571600-37574600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:37572200-37573800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:37572400-37573600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
4	chr2:37572400-37574400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:37572400-37576000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:37572400-37576200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:37572400-37576600	Weak transcription	Spleen	Spleen
8	chr2:37572600-37575600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:37572600-37575800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:37572600-37575800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:37572600-37576600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:37572600-37576600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:37572600-37576600	Weak transcription	Fetal Kidney	kidney
14	chr2:37572600-37576600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:37572600-37576800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:37572600-37576800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:37572600-37577200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:37572600-37577200	Weak transcription	Liver	Liver
19	chr2:37572600-37577200	Weak transcription	Fetal Intestine Large	intestine
20	chr2:37572600-37577200	Weak transcription	Left Ventricle	heart
21	chr2:37572600-37595400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:37572800-37573600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:37572800-37575000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:37572800-37575200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:37572800-37575200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:37572800-37575200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:37572800-37575200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:37572800-37576000	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:37572800-37576000	Weak transcription	A549	lung
30	chr2:37572800-37576000	Weak transcription	NHDF-Ad	bronchial
31	chr2:37572800-37576200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:37572800-37576800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr2:37572800-37576800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:37572800-37577200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:37572800-37577200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:37572800-37577200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr2:37572800-37577200	Weak transcription	Right Atrium	heart
38	chr2:37572800-37577200	Weak transcription	HMEC	breast
39	chr2:37572800-37577200	Weak transcription	Osteobl	bone
40	chr2:37572800-37577600	Weak transcription	NHEK	skin
41	chr2:37573000-37573800	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr2:37573000-37574200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr2:37573200-37573600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr2:37573200-37573600	Active TSS	Primary B cells from cord blood	blood
45	chr2:37573200-37574200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr2:37573200-37575200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:37573200-37577000	Weak transcription	Adipose Nuclei	Adipose
48	chr2:37573400-37573600	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
49	chr2:37573400-37573600	Enhancers	Psoas Muscle	Psoas
50	chr2:37573400-37576000	Weak transcription	Primary B cells from peripheral blood	blood

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