Variant report

Variant	rs1348839
Chromosome Location	chr2:134513437-134513438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10496711	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1110672	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12475347	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1374396	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1900351	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2100083	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41455444	0.84[EUR][1000 genomes]
rs4425130	0.89[EUR][1000 genomes]
rs56194837	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56724378	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57021484	0.83[EUR][1000 genomes]
rs57801195	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6716625	0.80[EUR][1000 genomes]
rs6731434	0.89[EUR][1000 genomes]
rs72843283	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72843284	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv963883	chr2:134508919-134516201	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134510600-134514200	Enhancers	Fetal Heart	heart
2	chr2:134512400-134514200	Enhancers	Osteobl	bone
3	chr2:134512400-134514600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:134512600-134514200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:134512800-134513600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:134512800-134513600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:134512800-134513600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:134512800-134513600	Enhancers	Stomach Smooth Muscle	stomach
9	chr2:134512800-134514000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:134512800-134514000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:134512800-134514000	Enhancers	Adipose Nuclei	Adipose
12	chr2:134512800-134514000	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:134512800-134514000	Enhancers	NH-A	brain
14	chr2:134512800-134514200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:134512800-134514200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:134512800-134514200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:134512800-134514200	Enhancers	Colon Smooth Muscle	Colon
18	chr2:134512800-134514200	Enhancers	Fetal Stomach	stomach
19	chr2:134512800-134514200	Enhancers	Lung	lung
20	chr2:134512800-134514200	Enhancers	Ovary	ovary
21	chr2:134512800-134514200	Enhancers	Right Atrium	heart
22	chr2:134512800-134514200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr2:134512800-134514200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:134512800-134514200	Enhancers	NHDF-Ad	bronchial
25	chr2:134512800-134514400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:134512800-134514400	Enhancers	Fetal Lung	lung
27	chr2:134512800-134514400	Enhancers	Fetal Muscle Leg	muscle
28	chr2:134512800-134514800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:134512800-134514800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:134513000-134513800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:134513000-134514000	Weak transcription	Esophagus	oesophagus
32	chr2:134513200-134514000	Enhancers	Fetal Brain Female	brain
33	chr2:134513400-134513800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:134513400-134514200	Enhancers	NHLF	lung
35	chr2:134513400-134514600	Enhancers	Left Ventricle	heart
36	chr2:134513400-134514600	Enhancers	Right Ventricle	heart

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