Variant report

Variant	rs322249
Chromosome Location	chr7:136961607-136961608
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10215890	1.00[ASN][1000 genomes]
rs10500126	1.00[ASN][1000 genomes]
rs1096912	1.00[ASN][1000 genomes]
rs12536916	1.00[ASN][1000 genomes]
rs1431097	1.00[ASN][1000 genomes]
rs17603449	1.00[ASN][1000 genomes]
rs17603498	1.00[ASN][1000 genomes]
rs17661392	1.00[ASN][1000 genomes]
rs322241	1.00[ASN][1000 genomes]
rs322243	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs6970530	1.00[ASN][1000 genomes]
rs6979228	1.00[ASN][1000 genomes]
rs7792298	1.00[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs322249	NUP205	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136938200-136980600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:136952200-136971000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:136961000-136962600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr7:136961200-136966000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:136961400-136961800	Enhancers	Brain Hippocampus Middle	brain
6	chr7:136961400-136962200	Enhancers	Brain Anterior Caudate	brain
7	chr7:136961400-136965800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:136961400-136973600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:136961400-136980600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:136961600-136962000	Enhancers	Brain Angular Gyrus	brain
11	chr7:136961600-136962200	Enhancers	Brain Cingulate Gyrus	brain
12	chr7:136961600-136962200	Enhancers	Brain Substantia Nigra	brain
13	chr7:136961600-136967600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:136961600-136967800	Weak transcription	Brain Inferior Temporal Lobe	brain

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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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