Variant report

Variant	rs283048
Chromosome Location	chr6:118636902-118636903
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12212582	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs188181	0.82[AMR][1000 genomes]
rs283040	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs283042	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs283044	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs283045	0.84[EUR][1000 genomes]
rs283049	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs283050	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs283057	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs283062	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs283066	0.82[AMR][1000 genomes]
rs4946336	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
4	nsv604554	chr6:118631282-118716318	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv830787	chr6:118631902-118805106	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118627800-118638000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:118627800-118641000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:118629000-118640800	Weak transcription	Fetal Brain Female	brain
4	chr6:118629200-118640600	Weak transcription	Ovary	ovary
5	chr6:118629200-118641000	Weak transcription	Brain Angular Gyrus	brain
6	chr6:118629400-118640600	Weak transcription	Brain Hippocampus Middle	brain
7	chr6:118630600-118640800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:118631400-118638800	Weak transcription	Brain Germinal Matrix	brain
9	chr6:118631400-118640600	Weak transcription	Psoas Muscle	Psoas
10	chr6:118631600-118637000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:118631600-118638800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:118634400-118642600	Enhancers	Colon Smooth Muscle	Colon
13	chr6:118634800-118638000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:118635200-118637400	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:118635200-118638000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:118635400-118642000	Weak transcription	Pancreas	Pancrea
17	chr6:118635400-118646400	Weak transcription	Right Ventricle	heart
18	chr6:118635600-118637000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:118635600-118638200	Weak transcription	Aorta	Aorta
20	chr6:118636000-118641400	Enhancers	Fetal Heart	heart
21	chr6:118636400-118637200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:118636800-118637400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:118636800-118637400	Enhancers	Left Ventricle	heart
24	chr6:118636800-118637400	Enhancers	Right Atrium	heart
25	chr6:118636800-118640600	Enhancers	NHLF	lung

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