Variant report

Variant	rs6748301
Chromosome Location	chr2:134362360-134362361
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12622133	0.88[ASN][1000 genomes]
rs12623896	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16826437	0.80[CHB][hapmap]
rs16826737	0.87[ASN][1000 genomes]
rs6705688	0.83[ASN][1000 genomes]
rs6735323	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	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
5	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
6	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134354600-134362600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:134357600-134362400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:134358200-134362600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:134358400-134362400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:134358800-134362600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:134359000-134362600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:134359800-134362400	Enhancers	Brain Substantia Nigra	brain
8	chr2:134360200-134362800	Weak transcription	NH-A	brain
9	chr2:134360200-134362800	Weak transcription	Osteobl	bone
10	chr2:134360200-134368600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:134360400-134362800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:134360600-134362400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:134360600-134362600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:134360600-134362600	Weak transcription	Brain Angular Gyrus	brain
15	chr2:134360600-134362800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:134360600-134362800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:134360600-134362800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:134360600-134362800	Weak transcription	NHLF	lung
19	chr2:134360600-134364000	Weak transcription	Brain Anterior Caudate	brain
20	chr2:134360600-134364800	Weak transcription	NHEK	skin
21	chr2:134360600-134365400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:134360800-134364600	Weak transcription	Fetal Heart	heart
23	chr2:134360800-134365200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:134360800-134367200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:134361200-134363200	Enhancers	Brain Hippocampus Middle	brain
26	chr2:134361400-134367800	Weak transcription	Right Atrium	heart
27	chr2:134362200-134363000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:134362200-134363000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:134362200-134363800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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