Variant report

Variant	rs60474976
Chromosome Location	chr2:152172065-152172066
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10173316	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11885914	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12615036	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12619870	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12621525	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs13034932	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs13396427	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13426631	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17191185	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs41383044	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57297109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59530690	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152168400-152173800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:152171000-152172600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:152171000-152172600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:152171000-152172800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:152171600-152172600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:152171600-152172600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:152171600-152172600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:152171600-152172600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:152171600-152172600	Enhancers	Brain Cingulate Gyrus	brain
10	chr2:152171600-152172600	Enhancers	Ovary	ovary
11	chr2:152171600-152172800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:152171600-152172800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:152171600-152172800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:152171600-152172800	Enhancers	Fetal Muscle Leg	muscle
15	chr2:152171600-152172800	Enhancers	Fetal Stomach	stomach
16	chr2:152171600-152172800	Enhancers	HSMM	muscle
17	chr2:152171600-152173200	Enhancers	HSMMtube	muscle
18	chr2:152171800-152172200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:152171800-152172200	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr2:152171800-152172200	Enhancers	NH-A	brain
21	chr2:152171800-152172400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr2:152171800-152172400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:152171800-152172400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr2:152171800-152172400	Enhancers	Fetal Lung	lung
25	chr2:152171800-152172400	Enhancers	NHLF	lung
26	chr2:152171800-152172600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:152171800-152172600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:152171800-152172600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:152171800-152172600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:152171800-152172600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr2:152171800-152172600	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr2:152171800-152172600	Active TSS	Stomach Smooth Muscle	stomach
33	chr2:152171800-152172600	Flanking Active TSS	Osteobl	bone
34	chr2:152171800-152172800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:152171800-152172800	Enhancers	Brain Hippocampus Middle	brain
36	chr2:152171800-152172800	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr2:152171800-152172800	Enhancers	Fetal Muscle Trunk	muscle
38	chr2:152171800-152172800	Enhancers	Placenta	Placenta
39	chr2:152171800-152173000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr2:152172000-152172200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:152172000-152172200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:152172000-152172200	Active TSS	Brain Angular Gyrus	brain
43	chr2:152172000-152172200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr2:152172000-152172400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr2:152172000-152172400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr2:152172000-152172400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:152172000-152172400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:152172000-152172400	Active TSS	Colonic Mucosa	Colon
49	chr2:152172000-152172400	Enhancers	Psoas Muscle	Psoas
50	chr2:152172000-152172400	Active TSS	Rectal Mucosa Donor 29	rectum

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