Variant report

Variant	rs72997604
Chromosome Location	chr2:210322709-210322710
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10497930	0.83[AMR][1000 genomes]
rs11889422	0.81[EUR][1000 genomes]
rs6709711	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72993710	0.83[AMR][1000 genomes]
rs72993758	0.87[AMR][1000 genomes]
rs72995630	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72995661	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72995674	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72995682	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs992029	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv834519	chr2:210271017-210400153	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs72997604	UNC80	cis	substantia nigra	BrainEAC
rs72997604	MAP2,LOC648149	cis	substantia nigra	BrainEAC

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210306600-210337000	Weak transcription	Aorta	Aorta
2	chr2:210308600-210324200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:210316400-210327600	Weak transcription	Fetal Brain Male	brain
4	chr2:210316400-210328000	Weak transcription	Brain Germinal Matrix	brain
5	chr2:210319800-210331200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:210319800-210341000	Weak transcription	Fetal Brain Female	brain
7	chr2:210321000-210324400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:210321000-210324600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:210322000-210322800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:210322200-210324600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:210322400-210322800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:210322400-210322800	Enhancers	Liver	Liver
13	chr2:210322400-210323000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:210322400-210323000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:210322400-210323600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:210322400-210323600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:210322400-210323600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:210322600-210322800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr2:210322600-210323400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:210322600-210324000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:210322600-210337200	Weak transcription	Brain Anterior Caudate	brain

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