Variant report

Variant	rs207344
Chromosome Location	chr4:19032474-19032475
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10001989	0.81[EUR][1000 genomes]
rs10003918	0.81[EUR][1000 genomes]
rs10010649	0.81[EUR][1000 genomes]
rs10021146	0.81[EUR][1000 genomes]
rs10031790	0.81[EUR][1000 genomes]
rs10033174	0.81[EUR][1000 genomes]
rs10035035	0.81[EUR][1000 genomes]
rs10440302	0.81[EUR][1000 genomes]
rs13434706	0.81[EUR][1000 genomes]
rs13434733	0.81[EUR][1000 genomes]
rs16897955	0.81[EUR][1000 genomes]
rs16897956	0.81[EUR][1000 genomes]
rs16898010	0.81[EUR][1000 genomes]
rs176277	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs207343	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs207345	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs207351	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs207352	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs207353	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs207354	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs207356	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs207357	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs207365	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28400282	0.81[EUR][1000 genomes]
rs28528173	0.81[EUR][1000 genomes]
rs28628114	0.81[EUR][1000 genomes]
rs9990688	0.81[EUR][1000 genomes]
rs9993205	0.81[EUR][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	nsv533087	chr4:18362040-19176896	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv532708	chr4:18596861-19176896	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1000054	chr4:18839588-19271261	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv537051	chr4:18839588-19271261	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1008625	chr4:18880048-19148705	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1000563	chr4:18924475-19246818	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1003321	chr4:18936051-19117825	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv878724	chr4:18985954-19115862	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19030400-19033000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:19030800-19034000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:19031000-19032600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr4:19031000-19032600	Enhancers	Fetal Stomach	stomach
5	chr4:19031400-19032800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:19031400-19032800	Enhancers	Fetal Lung	lung
7	chr4:19031400-19033000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:19031800-19032600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr4:19031800-19032600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:19031800-19032600	Enhancers	Brain Germinal Matrix	brain
11	chr4:19031800-19032600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr4:19032000-19035600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:19032000-19037600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:19032200-19032600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:19032200-19032600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:19032200-19032600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:19032200-19032800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:19032200-19034000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr4:19032400-19032800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:19032400-19032800	Enhancers	Fetal Kidney	kidney

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