Variant report

Variant	rs13143074
Chromosome Location	chr4:56978772-56978773
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10001844	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10025083	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10030686	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11932413	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13131545	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2127196	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412730	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412733	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28506868	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4864569	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs976638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9991514	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9996882	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9998022	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv999328	chr4:56942917-57041586	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1007114	chr4:56942917-57055381	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56952000-57024400	Weak transcription	Fetal Intestine Small	intestine
2	chr4:56966000-56981200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:56967400-56979400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:56973000-56981600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr4:56974200-56981600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:56974800-56981600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:56975000-56981400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:56978000-56979000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:56978000-56979400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:56978200-56978800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr4:56978200-56978800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:56978200-56978800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:56978200-56978800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:56978200-56979000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:56978200-56979000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:56978200-56979000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr4:56978200-56979000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:56978200-56979000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:56978200-56979200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:56978200-56979400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:56978400-56979000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:56978400-56979000	Enhancers	Brain Germinal Matrix	brain
23	chr4:56978400-56979400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:56978600-56979000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr4:56978600-56981400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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