Variant report

Variant	rs59793111
Chromosome Location	chr1:209280551-209280552
allele	-/C/CC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11119225	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1174557	0.86[ASN][1000 genomes]
rs1174558	0.86[ASN][1000 genomes]
rs1174561	0.86[ASN][1000 genomes]
rs12090478	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6661599	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

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	nsv1006716	chr1:209261652-209285782	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209273800-209281800	Enhancers	Fetal Brain Female	brain
2	chr1:209273800-209282200	Enhancers	Fetal Brain Male	brain
3	chr1:209278200-209280600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:209278200-209280800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:209279000-209280800	Enhancers	Colon Smooth Muscle	Colon
6	chr1:209279000-209280800	Enhancers	Duodenum Mucosa	Duodenum
7	chr1:209279000-209284800	ZNF genes & repeats	GM12878-XiMat	blood
8	chr1:209279200-209280600	Enhancers	Fetal Muscle Trunk	muscle
9	chr1:209279200-209280600	Enhancers	Fetal Muscle Leg	muscle
10	chr1:209279400-209280800	Enhancers	Fetal Stomach	stomach
11	chr1:209279600-209280600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:209279600-209282000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:209280000-209282400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:209280000-209283200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:209280200-209280600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr1:209280200-209281400	ZNF genes & repeats	hESC Derived CD184+ Endoderm 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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