Variant report

Variant	rs56270444
Chromosome Location	chr7:47726311-47726312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs55914528	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73105206	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73105225	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73107230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73107256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73107257	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73107260	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73107263	1.00[AMR][1000 genomes];0.90[EUR][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	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1024392	chr7:47707023-47758976	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1018608	chr7:47708525-47831535	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1024027	chr7:47709936-47743485	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1022906	chr7:47709936-47831535	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv1028355	chr7:47715107-47758976	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47718600-47728000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:47720000-47728000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:47720000-47732400	Weak transcription	Spleen	Spleen
4	chr7:47721200-47728000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:47721200-47728000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:47721200-47728000	Weak transcription	Brain Substantia Nigra	brain
7	chr7:47721200-47728200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:47721600-47727400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:47723400-47728000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:47723600-47728000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:47723800-47728200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:47724800-47728000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:47724800-47728000	Weak transcription	HepG2	liver
14	chr7:47725000-47728200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:47725800-47728400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:47725800-47729000	Weak transcription	A549	lung
17	chr7:47725800-47732400	Weak transcription	Placenta	Placenta
18	chr7:47725800-47732400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr7:47725800-47734000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:47726000-47732400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:47726200-47726600	Weak transcription	K562	blood
22	chr7:47726200-47728200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr7:47726200-47730400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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