Variant report

Variant	rs1669471
Chromosome Location	chr2:134364951-134364952
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: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1432290	0.89[EUR][1000 genomes]
rs1432291	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1653793	0.89[EUR][1000 genomes]
rs1653796	0.89[EUR][1000 genomes]
rs1653798	0.89[EUR][1000 genomes]
rs1669462	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1669468	0.90[EUR][1000 genomes]
rs1669470	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4954071	0.91[EUR][1000 genomes]
rs4954073	0.83[EUR][1000 genomes]
rs6704812	0.82[EUR][1000 genomes]
rs73957147	0.82[EUR][1000 genomes]
rs7561974	0.88[EUR][1000 genomes]
rs7564515	0.83[EUR][1000 genomes]
rs7565361	0.81[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:22 , 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	chr2:134360800-134365200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:134360800-134367200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:134361400-134367800	Weak transcription	Right Atrium	heart
6	chr2:134363000-134368000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:134363200-134365400	Weak transcription	Brain Substantia Nigra	brain
8	chr2:134363200-134366800	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:134363200-134367800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:134363400-134367800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:134363600-134367400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:134363600-134371800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:134363800-134367600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:134364200-134368200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:134364400-134365000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:134364400-134366200	Enhancers	HUVEC	blood vessel
17	chr2:134364600-134365000	Enhancers	Fetal Heart	heart
18	chr2:134364600-134365800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:134364800-134365600	Enhancers	Osteobl	bone
20	chr2:134364800-134366200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:134364800-134368200	Enhancers	NHEK	skin
22	chr2:134364800-134373200	Weak transcription	Brain Anterior Caudate	brain

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