Variant report

Variant	rs12645387
Chromosome Location	chr4:57072964-57072965
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12501286	1.00[EUR][1000 genomes]
rs12640682	1.00[EUR][1000 genomes]
rs12643906	1.00[EUR][1000 genomes]
rs12646746	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12648988	1.00[EUR][1000 genomes]
rs12649000	1.00[EUR][1000 genomes]
rs12649651	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1382629	0.85[ASN][1000 genomes]
rs17086449	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2127194	1.00[EUR][1000 genomes]
rs57569247	1.00[EUR][1000 genomes]
rs73158789	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	nsv829940	chr4:57072341-57262730	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	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	chr4:57054200-57077200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:57057000-57076000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:57057000-57076400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:57057600-57077400	Weak transcription	Fetal Brain Female	brain
10	chr4:57063000-57107800	Weak transcription	Fetal Kidney	kidney
11	chr4:57064800-57074200	Weak transcription	Fetal Intestine Large	intestine
12	chr4:57066800-57077200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:57067600-57077400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:57070400-57076000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:57070400-57077400	Weak transcription	Fetal Stomach	stomach
16	chr4:57070400-57089000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:57070600-57073600	Weak transcription	Fetal Intestine Small	intestine
18	chr4:57070800-57076000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:57072000-57076000	Weak transcription	Aorta	Aorta
20	chr4:57072400-57073200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:57072400-57073400	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr4:57072400-57073800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:57072400-57074600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:57072400-57074800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:57072400-57075200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:57072600-57073200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:57072600-57076000	Weak transcription	Brain Germinal Matrix	brain
28	chr4:57072800-57074200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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