Variant report

Variant	rs4711418
Chromosome Location	chr6:35471891-35471892
allele	C/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]
rs12110645	0.89[ASN][1000 genomes]
rs2273002	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3807048	0.86[ASN][1000 genomes]
rs4711419	0.89[ASN][1000 genomes]
rs4711421	0.86[ASN][1000 genomes]
rs4711422	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4713875	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713877	0.89[ASN][1000 genomes]
rs4713878	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4713880	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4713883	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4713889	0.86[ASN][1000 genomes]
rs6903200	0.89[ASN][1000 genomes]
rs73746446	0.89[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	nsv519370	chr6:35378778-35537406	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
2	nsv984463	chr6:35432948-35477634	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	67 gene(s)	inside rSNPs	diseases
3	nsv462909	chr6:35457396-35502202	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
4	nsv602912	chr6:35457396-35502202	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
5	esv2758048	chr6:35463741-35806504	Genic enhancers Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	esv2759420	chr6:35463741-35806504	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	esv2761067	chr6:35471246-35573245	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35466400-35476800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:35466400-35479200	Weak transcription	Right Ventricle	heart
3	chr6:35466800-35477000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:35466800-35479400	Weak transcription	Right Atrium	heart
5	chr6:35467000-35473400	Weak transcription	Esophagus	oesophagus
6	chr6:35467400-35478600	Weak transcription	Fetal Lung	lung
7	chr6:35468800-35473000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:35469000-35473200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:35469000-35473600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:35469200-35473400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:35469200-35473600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:35469200-35473600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:35469200-35473600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:35469200-35473800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:35469200-35474200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:35469800-35473200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr6:35470400-35472200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr6:35471000-35472000	Enhancers	Primary hematopoietic stem cells	blood
19	chr6:35471200-35472000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:35471200-35472000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:35471200-35472400	Bivalent Enhancer	Fetal Stomach	stomach
22	chr6:35471600-35472000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
23	chr6:35471600-35472200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr6:35471600-35472200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr6:35471800-35472200	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr6:35471800-35472400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:35471800-35473200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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