Variant report

Variant	rs4945619
Chromosome Location	chr6:118607161-118607162
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12110516	1.00[ASN][1000 genomes]
rs12110924	1.00[ASN][1000 genomes]
rs12111275	1.00[ASN][1000 genomes]
rs12111354	1.00[ASN][1000 genomes]
rs12111454	1.00[ASN][1000 genomes]
rs4945620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946331	1.00[ASN][1000 genomes]
rs55776632	0.83[EUR][1000 genomes]
rs73512505	1.00[ASN][1000 genomes]
rs73512510	1.00[ASN][1000 genomes]
rs73512511	1.00[ASN][1000 genomes]
rs73512514	1.00[ASN][1000 genomes]
rs73512519	1.00[ASN][1000 genomes]
rs73525872	1.00[EUR][1000 genomes]
rs73525897	1.00[ASN][1000 genomes]
rs73527816	1.00[ASN][1000 genomes]
rs73530044	1.00[ASN][1000 genomes]
rs73530053	1.00[ASN][1000 genomes]
rs73530055	1.00[ASN][1000 genomes]
rs73530061	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised 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
3	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118603400-118610000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr6:118604800-118607400	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr6:118605000-118607600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:118605000-118607600	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr6:118605600-118607400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:118605800-118608400	Enhancers	Stomach Smooth Muscle	stomach
7	chr6:118606000-118607600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:118606000-118607600	Enhancers	Osteobl	bone
9	chr6:118606200-118607400	Enhancers	NHDF-Ad	bronchial
10	chr6:118606200-118607600	Enhancers	Aorta	Aorta
11	chr6:118606200-118607600	Enhancers	Fetal Muscle Leg	muscle
12	chr6:118606200-118609800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:118606400-118607200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:118606400-118607200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:118606400-118607400	Enhancers	HSMM	muscle
16	chr6:118606400-118607600	Weak transcription	Right Ventricle	heart
17	chr6:118606600-118609400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:118606600-118609400	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:118606600-118613400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr6:118606800-118607200	Weak transcription	Colon Smooth Muscle	Colon
21	chr6:118606800-118607200	Enhancers	Fetal Heart	heart
22	chr6:118606800-118607200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr6:118606800-118607600	Enhancers	Psoas Muscle	Psoas
24	chr6:118606800-118608000	Weak transcription	Left Ventricle	heart
25	chr6:118606800-118609000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:118607000-118607200	Enhancers	NHLF	lung

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