Variant report

Variant	rs12614645
Chromosome Location	chr2:134365226-134365227
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:134355111..134357281-chr2:134363291..134366211,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10200864	0.82[EUR][1000 genomes]
rs10928457	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11891381	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12620524	0.89[EUR][1000 genomes]
rs13382906	0.82[EUR][1000 genomes]
rs13419711	0.82[EUR][1000 genomes]
rs16827348	0.81[AFR][1000 genomes]
rs16827767	0.84[EUR][1000 genomes]
rs1901451	0.86[EUR][1000 genomes]
rs1901452	0.86[EUR][1000 genomes]
rs2321200	0.89[EUR][1000 genomes]
rs59384957	0.85[AFR][1000 genomes]
rs72998142	0.83[AFR][1000 genomes]
rs72998162	0.81[AFR][1000 genomes]
rs73002007	0.81[AFR][1000 genomes]
rs7584846	0.89[EUR][1000 genomes]
rs7593735	0.85[EUR][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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134360200-134368600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:134360600-134365400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:134360800-134367200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:134361400-134367800	Weak transcription	Right Atrium	heart
5	chr2:134363000-134368000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:134363200-134365400	Weak transcription	Brain Substantia Nigra	brain
7	chr2:134363200-134366800	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:134363200-134367800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:134363400-134367800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:134363600-134367400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:134363600-134371800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:134363800-134367600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:134364200-134368200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:134364400-134366200	Enhancers	HUVEC	blood vessel
15	chr2:134364600-134365800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:134364800-134365600	Enhancers	Osteobl	bone
17	chr2:134364800-134366200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:134364800-134368200	Enhancers	NHEK	skin
19	chr2:134364800-134373200	Weak transcription	Brain Anterior Caudate	brain
20	chr2:134365200-134368200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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