Variant report

Variant	rs596100
Chromosome Location	chr11:105780755-105780756
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1144410	0.95[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1267444	0.81[CHD][hapmap]
rs17104986	1.00[LWK][hapmap]
rs1939153	0.90[CHD][hapmap]
rs1939800	0.82[CHD][hapmap]
rs505829	0.80[CHD][hapmap]
rs509512	0.91[CHD][hapmap]
rs587978	0.85[CHB][hapmap];0.82[GIH][hapmap];0.81[ASN][1000 genomes]
rs589104	0.81[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap]
rs593130	0.80[CHD][hapmap]
rs601480	0.91[CHD][hapmap]
rs619323	0.80[CHD][hapmap]
rs622178	0.95[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs631002	0.95[CHB][hapmap];0.87[GIH][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs637569	0.89[CEU][hapmap];0.81[JPT][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs641574	0.84[CHD][hapmap]
rs669397	0.91[CHD][hapmap]
rs681156	0.95[CHB][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs685725	0.81[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832257	chr11:105662753-105817576	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs596100	TMEM123	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105771400-105785600	Weak transcription	Brain Angular Gyrus	brain
2	chr11:105774200-105784400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:105774200-105785600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr11:105778200-105780800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:105778200-105781000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr11:105778400-105785600	Weak transcription	Brain Substantia Nigra	brain
7	chr11:105780400-105791400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:105780600-105781400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:105780600-105781600	Enhancers	Muscle Satellite Cultured Cells	--

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Input of quick search could be:

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

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