Variant report

Variant	rs12657809
Chromosome Location	chr5:146798747-146798748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12515377	0.80[CHB][hapmap];1.00[EUR][1000 genomes]
rs12653560	0.80[CHB][hapmap];1.00[EUR][1000 genomes]
rs13340333	0.81[CHB][hapmap]
rs1432853	0.80[CHB][hapmap];1.00[EUR][1000 genomes]
rs1432854	1.00[EUR][1000 genomes]
rs1432855	1.00[EUR][1000 genomes]
rs1432856	1.00[EUR][1000 genomes]
rs1432857	1.00[EUR][1000 genomes]
rs17096661	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs17106679	1.00[EUR][1000 genomes]
rs17106682	1.00[EUR][1000 genomes]
rs17106683	1.00[EUR][1000 genomes]
rs17106686	1.00[EUR][1000 genomes]
rs17106688	1.00[EUR][1000 genomes]
rs17106689	1.00[EUR][1000 genomes]
rs17106698	0.80[CHB][hapmap];1.00[EUR][1000 genomes]
rs17106701	0.81[CHB][hapmap];1.00[EUR][1000 genomes]
rs17106709	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17106713	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106716	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106723	0.87[CHB][hapmap];0.80[ASN][1000 genomes]
rs17106725	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs17106726	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs2163767	0.87[CHB][hapmap];0.80[ASN][1000 genomes]
rs2241696	0.80[ASN][1000 genomes]
rs2288800	1.00[EUR][1000 genomes]
rs2288805	0.81[CHB][hapmap]
rs3213857	0.81[CHB][hapmap]
rs3792844	1.00[EUR][1000 genomes]
rs3792845	1.00[EUR][1000 genomes]
rs3792846	1.00[EUR][1000 genomes]
rs3805539	1.00[EUR][1000 genomes]
rs3805540	1.00[EUR][1000 genomes]
rs3805542	1.00[EUR][1000 genomes]
rs3805543	0.84[JPT][hapmap];1.00[EUR][1000 genomes]
rs3805544	1.00[EUR][1000 genomes]
rs3805545	0.81[CHB][hapmap];1.00[EUR][1000 genomes]
rs3805546	0.81[CHB][hapmap];1.00[EUR][1000 genomes]
rs58013114	0.80[ASN][1000 genomes]
rs60753325	0.90[ASN][1000 genomes]
rs6891468	1.00[EUR][1000 genomes]
rs6897123	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519847	chr5:146166378-146812647	Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv599938	chr5:146169511-146806365	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146769400-146800600	Strong transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:146769800-146810400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:146770000-146800600	Strong transcription	H1 Cell Line	embryonic stem cell
4	chr5:146770200-146805200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:146770200-146810800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:146770400-146800600	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:146770600-146800400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:146773600-146800600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:146774000-146799400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:146777600-146800600	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr5:146783400-146800800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:146784600-146800400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:146784800-146807400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:146785400-146808800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:146787000-146798800	Weak transcription	Right Ventricle	heart
16	chr5:146792600-146798800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:146795800-146800000	Enhancers	Rectal Smooth Muscle	rectum
18	chr5:146796800-146799000	Enhancers	Right Atrium	heart
19	chr5:146796800-146799000	Enhancers	Small Intestine	intestine
20	chr5:146797200-146807200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:146797200-146808800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:146797200-146810800	Weak transcription	Brain Anterior Caudate	brain
23	chr5:146797400-146807400	Weak transcription	NHDF-Ad	bronchial
24	chr5:146797400-146810800	Weak transcription	Spleen	Spleen
25	chr5:146797600-146798800	Strong transcription	Brain Germinal Matrix	brain
26	chr5:146797600-146799800	Genic enhancers	Stomach Smooth Muscle	stomach
27	chr5:146797600-146800200	Strong transcription	Fetal Brain Female	brain
28	chr5:146797600-146803000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:146797800-146799200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:146797800-146799200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:146797800-146799800	Strong transcription	Fetal Muscle Trunk	muscle
32	chr5:146797800-146800600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:146797800-146805400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr5:146797800-146806000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr5:146797800-146807200	Weak transcription	Psoas Muscle	Psoas
36	chr5:146797800-146811200	Weak transcription	Left Ventricle	heart
37	chr5:146798000-146799000	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr5:146798000-146799800	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:146798000-146800000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:146798000-146802800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:146798000-146805800	Weak transcription	Fetal Intestine Large	intestine
42	chr5:146798000-146810800	Weak transcription	Fetal Heart	heart
43	chr5:146798200-146799000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:146798200-146799400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:146798200-146800200	Strong transcription	Fetal Muscle Leg	muscle
46	chr5:146798200-146800200	Strong transcription	NH-A	brain
47	chr5:146798200-146802800	Weak transcription	Fetal Brain Male	brain
48	chr5:146798200-146803200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr5:146798200-146803400	Weak transcription	Fetal Intestine Small	intestine
50	chr5:146798200-146805400	Weak transcription	Ovary	ovary

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