Variant report

Variant	rs10129023
Chromosome Location	chr12:41893203-41893204
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11180876	1.00[YRI][hapmap]
rs11180951	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12299223	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12302081	1.00[YRI][hapmap]
rs12302262	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12306144	1.00[YRI][hapmap]
rs12313795	1.00[YRI][hapmap]
rs12315394	1.00[YRI][hapmap]
rs12322165	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv826349	chr12:41878846-41911495	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41869600-41905200	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:41877400-41903600	Weak transcription	Ovary	ovary
3	chr12:41887600-41901400	Weak transcription	Brain Substantia Nigra	brain
4	chr12:41887800-41893600	Weak transcription	Brain Germinal Matrix	brain
5	chr12:41890400-41895200	Weak transcription	Psoas Muscle	Psoas
6	chr12:41891400-41893400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:41891800-41893400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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