Variant report

Variant	rs12987374
Chromosome Location	chr2:134356301-134356302
allele	C/T
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: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10194577	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12691839	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13021524	1.00[CHB][hapmap]
rs1432282	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1653797	0.84[ASN][1000 genomes]
rs1653799	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1653800	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1653801	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1653802	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1653803	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1653804	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1669454	0.84[ASN][1000 genomes]
rs1669458	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1669460	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4953886	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4954069	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6430434	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6760534	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72849430	0.96[ASN][1000 genomes]
rs7607909	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs891822	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134345400-134360000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:134345400-134360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:134345800-134357200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:134349200-134356400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:134349400-134356400	Weak transcription	Brain Germinal Matrix	brain
6	chr2:134349400-134356800	Weak transcription	Fetal Brain Male	brain
7	chr2:134349400-134357200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:134352200-134360000	Weak transcription	NHEK	skin
9	chr2:134353800-134356800	Enhancers	Brain Hippocampus Middle	brain
10	chr2:134353800-134357200	Enhancers	Brain Substantia Nigra	brain
11	chr2:134354000-134359200	Enhancers	Brain Anterior Caudate	brain
12	chr2:134354200-134358800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:134354200-134359200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:134354200-134359200	Enhancers	Brain Cingulate Gyrus	brain
15	chr2:134354400-134359000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:134354600-134356400	Weak transcription	Fetal Brain Female	brain
17	chr2:134354600-134357800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:134354600-134359200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr2:134354600-134362600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:134354800-134356800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:134354800-134357200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:134354800-134357600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:134355000-134358600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:134355000-134359800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:134355000-134362200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:134355200-134358800	Enhancers	Brain Angular Gyrus	brain
27	chr2:134355800-134361200	Enhancers	Fetal Muscle Leg	muscle
28	chr2:134356000-134356600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:134356000-134358400	Enhancers	Fetal Heart	heart
30	chr2:134356000-134358800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:134356000-134358800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:134356200-134358000	Enhancers	Liver	Liver
33	chr2:134356200-134358600	Enhancers	Left Ventricle	heart
34	chr2:134356200-134359000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:134356200-134359800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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