Variant report

Variant	rs7584046
Chromosome Location	chr2:134331279-134331280
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10200825	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13401160	0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13426165	0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16826729	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56861595	1.00[AMR][1000 genomes]
rs58896894	1.00[AMR][1000 genomes]
rs60303968	1.00[AMR][1000 genomes]
rs60532004	1.00[AMR][1000 genomes]
rs60818895	1.00[AMR][1000 genomes]
rs6430430	0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6719987	0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992312	1.00[AMR][1000 genomes]
rs72994285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994288	1.00[AMR][1000 genomes]
rs72996138	1.00[AMR][1000 genomes]
rs73001188	1.00[AMR][1000 genomes]
rs73003129	1.00[AMR][1000 genomes]
rs7576744	0.97[AFR][1000 genomes];1.00[AMR][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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134325000-134342400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:134325400-134331800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:134326200-134337000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:134326400-134331800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:134326400-134331800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:134326400-134332400	Weak transcription	Right Atrium	heart
7	chr2:134326400-134334200	Weak transcription	Liver	Liver
8	chr2:134326400-134336200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:134326400-134337000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:134326600-134331800	Weak transcription	HUVEC	blood vessel
11	chr2:134326600-134334000	Weak transcription	NHEK	skin
12	chr2:134326600-134334200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:134326600-134334600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:134326600-134336000	Weak transcription	Brain Anterior Caudate	brain
15	chr2:134326600-134344200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:134326800-134332400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:134327200-134331400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:134327200-134331800	Weak transcription	Brain Substantia Nigra	brain
19	chr2:134327200-134332400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:134327400-134331800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:134327400-134332000	Weak transcription	NH-A	brain
22	chr2:134329000-134331800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:134329200-134334600	Weak transcription	Fetal Intestine Large	intestine
24	chr2:134329400-134331400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:134330000-134331800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:134330200-134331400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:134330200-134331600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:134330200-134333200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:134330200-134339800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:134330400-134331800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:134330600-134331800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:134331000-134331400	Enhancers	Brain Hippocampus Middle	brain
33	chr2:134331000-134332600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:134331000-134334200	Enhancers	Fetal Heart	heart
35	chr2:134331200-134332200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr2:134331200-134332400	Weak transcription	Esophagus	oesophagus
37	chr2:134331200-134332600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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