Variant report

Variant	rs13140248
Chromosome Location	chr4:186842789-186842790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10031442	0.87[CHB][hapmap];0.93[CHD][hapmap]
rs11726533	0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs11727354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11733540	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13110925	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13120409	0.83[ASN][1000 genomes]
rs13126254	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13128199	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1947455	0.91[CHB][hapmap];0.95[CHD][hapmap]
rs2124092	0.87[CHB][hapmap];0.90[CHD][hapmap]
rs2310372	0.87[CHB][hapmap];0.93[CHD][hapmap]
rs34146217	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34194389	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34239936	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34371287	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34456597	0.83[ASN][1000 genomes]
rs34614903	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34696831	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs36040554	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4862586	0.82[CHB][hapmap];0.85[CHD][hapmap]
rs4862588	0.87[CHB][hapmap];0.90[CHD][hapmap]
rs4862593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4862596	1.00[CEU][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4862600	0.84[CEU][hapmap];0.91[JPT][hapmap]
rs62336483	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][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	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1022661	chr4:186789827-187122464	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv537422	chr4:186789827-187122464	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv1032178	chr4:186836629-186909596	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186837600-186842800	Weak transcription	Osteobl	bone
2	chr4:186837600-186843400	Weak transcription	Spleen	Spleen
3	chr4:186838000-186842800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:186838000-186843000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:186838200-186842800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:186838200-186847000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr4:186838400-186842800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:186838600-186847000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:186841600-186843600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:186842000-186843000	Active TSS	Left Ventricle	heart
11	chr4:186842000-186843000	Active TSS	Right Atrium	heart
12	chr4:186842200-186843000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:186842400-186843000	Active TSS	Right Ventricle	heart
14	chr4:186842400-186843600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:186842600-186843000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:186842600-186843000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:186842600-186843000	Active TSS	Aorta	Aorta
18	chr4:186842600-186843400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:186842600-186843600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:186842600-186844000	Flanking Active TSS	Fetal Heart	heart
21	chr4:186842600-186844200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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