Variant report

Variant	rs11964509
Chromosome Location	chr6:38363251-38363252
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11967720	1.00[EUR][1000 genomes]
rs57211386	1.00[EUR][1000 genomes]
rs58257452	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59159418	1.00[AMR][1000 genomes]
rs60395126	1.00[EUR][1000 genomes]
rs60947971	1.00[AMR][1000 genomes]
rs6912633	1.00[AMR][1000 genomes]
rs73410491	1.00[AMR][1000 genomes]
rs73412518	1.00[AMR][1000 genomes]
rs73412520	1.00[AMR][1000 genomes]
rs73412524	1.00[AMR][1000 genomes]
rs73420793	1.00[AMR][1000 genomes]
rs73420801	1.00[EUR][1000 genomes]
rs73422820	1.00[EUR][1000 genomes]
rs73422823	1.00[EUR][1000 genomes]
rs73422832	1.00[EUR][1000 genomes]
rs73422841	1.00[EUR][1000 genomes]
rs73422843	1.00[EUR][1000 genomes]
rs73422846	1.00[EUR][1000 genomes]
rs7748763	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7763951	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv602957	chr6:38305770-38395874	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1032358	chr6:38323745-38415855	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1022724	chr6:38332368-38454527	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv602958	chr6:38362024-38446634	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38343000-38367800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:38350200-38366200	Weak transcription	Lung	lung
3	chr6:38354000-38376000	Weak transcription	Primary T cells from cord blood	blood
4	chr6:38354800-38370800	Weak transcription	Primary B cells from cord blood	blood
5	chr6:38359600-38367200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr6:38359800-38363800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:38359800-38365200	Weak transcription	Fetal Heart	heart
8	chr6:38360000-38372200	Weak transcription	Psoas Muscle	Psoas
9	chr6:38360400-38365200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:38360400-38372800	Weak transcription	Left Ventricle	heart
11	chr6:38361400-38372400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:38362200-38371800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:38362400-38363800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:38362400-38363800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:38362400-38364200	Weak transcription	HMEC	breast
16	chr6:38362600-38364000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:38362600-38364000	Weak transcription	NHEK	skin
18	chr6:38363000-38372000	Weak transcription	Brain Substantia Nigra	brain

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