Variant report

Variant	rs322243
Chromosome Location	chr7:136958339-136958340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

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[ASW][hapmap];0.93[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322244	1.00[CHB][hapmap]
rs322249	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
rs322243	NUP205	cis	cerebellum	SCAN

Chromatin state (count:12 , 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	chr7:136947800-136959800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr7:136949000-136960800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:136952200-136960000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:136952200-136960400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:136952200-136971000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:136952600-136960400	Weak transcription	Brain Substantia Nigra	brain
8	chr7:136955000-136958800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:136956000-136958600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:136957200-136960800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:136957800-136959800	Weak transcription	Brain Angular Gyrus	brain
12	chr7:136958000-136958400	Enhancers	Brain Hippocampus Middle	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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