Variant report

Variant	rs67114103
Chromosome Location	chr2:48424904-48424905
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10186770	0.91[ASN][1000 genomes]
rs10197197	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11678411	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1546472	0.92[EUR][1000 genomes]
rs4146604	0.83[EUR][1000 genomes]
rs60068013	0.88[ASN][1000 genomes]
rs62137435	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6755968	0.92[EUR][1000 genomes]
rs7578930	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7583634	0.97[ASN][1000 genomes]
rs7589085	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv581773	chr2:48277490-48443109	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1005241	chr2:48413134-48493182	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2762552	chr2:48413146-48493182	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv457407	chr2:48414735-48493182	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv581774	chr2:48414735-48493182	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1001850	chr2:48421389-48492090	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv535681	chr2:48421389-48492090	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48422000-48425200	Enhancers	Brain Substantia Nigra	brain
2	chr2:48422000-48426400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr2:48422600-48425000	Enhancers	Fetal Muscle Leg	muscle
4	chr2:48423200-48425600	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr2:48423200-48426800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:48423400-48425000	Enhancers	Liver	Liver
7	chr2:48423400-48425000	Enhancers	Gastric	stomach
8	chr2:48423400-48425200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:48423400-48425400	Enhancers	Adipose Nuclei	Adipose
10	chr2:48423400-48426600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:48423400-48428200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:48423600-48425000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:48423600-48432600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:48423800-48425000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:48423800-48425000	Enhancers	Osteobl	bone
16	chr2:48423800-48425200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:48423800-48426000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:48423800-48426400	Weak transcription	Left Ventricle	heart
19	chr2:48423800-48435800	Weak transcription	Right Atrium	heart
20	chr2:48424000-48425600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:48424000-48426000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:48424000-48426000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:48424000-48426000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:48424000-48426000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:48424000-48426200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:48424000-48432400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:48424200-48425000	Enhancers	Duodenum Mucosa	Duodenum
28	chr2:48424200-48426000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr2:48424400-48425000	Enhancers	Lung	lung
30	chr2:48424400-48425000	Enhancers	Right Ventricle	heart
31	chr2:48424400-48425200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:48424600-48426000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:48424600-48426000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:48424600-48426000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:48424600-48426000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:48424600-48426000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:48424600-48426000	Weak transcription	Brain Anterior Caudate	brain
38	chr2:48424600-48426000	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:48424600-48426000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr2:48424600-48426000	Weak transcription	Spleen	Spleen
41	chr2:48424600-48426200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:48424600-48426200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:48424600-48426200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:48424600-48426400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr2:48424600-48426400	Weak transcription	GM12878-XiMat	blood
46	chr2:48424600-48428200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:48424600-48431400	Weak transcription	Brain Angular Gyrus	brain
48	chr2:48424600-48432600	Weak transcription	HSMMtube	muscle
49	chr2:48424600-48434000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:48424800-48425000	Bivalent Enhancer	HepG2	liver

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