Variant report

Variant	rs72611538
Chromosome Location	chr7:136950272-136950273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10435425	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10435428	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11763248	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11764598	0.88[EUR][1000 genomes]
rs11772240	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11772540	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16874924	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17169016	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4142090	0.93[EUR][1000 genomes]
rs56280054	0.91[EUR][1000 genomes]
rs56926299	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57537216	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72611536	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72611537	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs891586	0.93[EUR][1000 genomes]
rs891587	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831149	chr7:136831665-137006468	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv889238	chr7:136915059-136989606	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv889239	chr7:136923730-136994013	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136936800-136951600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:136938200-136980600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:136939000-136954600	Weak transcription	Fetal Stomach	stomach
4	chr7:136939200-136951800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:136940600-136957000	Weak transcription	Brain Angular Gyrus	brain
6	chr7:136946400-136951600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:136946600-136951600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:136947600-136956600	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:136947800-136952000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:136947800-136959800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:136949000-136951600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:136949000-136960800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:136950000-136950400	Enhancers	Brain Substantia Nigra	brain
14	chr7:136950000-136950600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr7:136950000-136952200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:136950200-136950600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr7:136950200-136950600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:136950200-136950600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:136950200-136950800	Enhancers	HUES48 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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