Variant report

Variant	rs4954068
Chromosome Location	chr2:134343253-134343254
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:13)

rs_ID	r²[population]
rs11675814	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11688182	1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1368096	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17816830	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1864816	0.90[ASN][1000 genomes]
rs1864817	0.92[CHB][hapmap];0.92[ASN][1000 genomes]
rs34522146	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34570953	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34647295	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34720835	0.92[ASN][1000 genomes]
rs35421727	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6710186	0.90[ASN][1000 genomes]
rs6715224	1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv516644	chr2:134301130-134391214	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv431713	chr2:134316522-134413604	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	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
8	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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134326600-134344200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:134335000-134343800	Weak transcription	Esophagus	oesophagus
3	chr2:134336000-134343800	Weak transcription	Gastric	stomach
4	chr2:134337200-134344800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:134337800-134343400	Weak transcription	Brain Angular Gyrus	brain
6	chr2:134338400-134343800	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:134339200-134343800	Weak transcription	Aorta	Aorta
8	chr2:134339200-134348400	Weak transcription	Right Ventricle	heart
9	chr2:134339400-134344600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:134339400-134344800	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:134339600-134344000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:134340000-134343800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:134340000-134344000	Weak transcription	HMEC	breast
14	chr2:134340000-134344200	Weak transcription	Left Ventricle	heart
15	chr2:134340000-134347000	Weak transcription	NH-A	brain
16	chr2:134340400-134343800	Weak transcription	NHEK	skin
17	chr2:134341000-134344000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:134342200-134344000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:134342400-134343600	Weak transcription	Brain Substantia Nigra	brain
20	chr2:134342400-134345400	Enhancers	Fetal Heart	heart
21	chr2:134342800-134346000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:134343000-134343600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:134343000-134348400	Weak transcription	Brain Anterior Caudate	brain

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