Variant report

Variant	rs12646746
Chromosome Location	chr4:57070831-57070832
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12501286	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12640682	1.00[EUR][1000 genomes]
rs12643906	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12645387	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12648988	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12649000	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12649651	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1382629	0.98[ASN][1000 genomes]
rs17086449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2127194	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4865063	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs57569247	1.00[EUR][1000 genomes]
rs73158789	0.86[AMR][1000 genomes];1.00[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	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1012036	chr4:56963544-57106642	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3415289	chr4:57063312-57236755	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv818233	chr4:57066601-57071639	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57023000-57076000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:57050000-57076000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:57050000-57084600	Weak transcription	Fetal Brain Male	brain
4	chr4:57050600-57075800	Weak transcription	Ovary	ovary
5	chr4:57053600-57074200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr4:57054200-57072400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:57054200-57077200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:57057000-57076000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:57057000-57076400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:57057600-57077400	Weak transcription	Fetal Brain Female	brain
11	chr4:57057800-57071000	Weak transcription	Brain Germinal Matrix	brain
12	chr4:57059200-57072600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:57059400-57072400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:57063000-57107800	Weak transcription	Fetal Kidney	kidney
15	chr4:57064800-57074200	Weak transcription	Fetal Intestine Large	intestine
16	chr4:57066800-57077200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:57067000-57072200	Weak transcription	HUVEC	blood vessel
18	chr4:57067600-57072400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr4:57067600-57077400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:57070200-57071000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:57070400-57072400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:57070400-57072400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:57070400-57072400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:57070400-57076000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:57070400-57077400	Weak transcription	Fetal Stomach	stomach
26	chr4:57070400-57089000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:57070600-57073600	Weak transcription	Fetal Intestine Small	intestine
28	chr4:57070800-57076000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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