Variant report

Variant	rs9548517
Chromosome Location	chr13:39445743-39445744
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12164864	0.84[ASN][1000 genomes]
rs1333507	0.82[ASN][1000 genomes]
rs1894106	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1894107	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1945509	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1945510	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4280113	0.86[ASN][1000 genomes]
rs4303350	0.86[ASN][1000 genomes]
rs4536338	0.86[ASN][1000 genomes]
rs4943614	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6563638	0.84[ASN][1000 genomes]
rs6563639	0.84[ASN][1000 genomes]
rs6563640	0.84[ASN][1000 genomes]
rs6563641	0.86[ASN][1000 genomes]
rs7320992	0.84[ASN][1000 genomes]
rs7332206	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7336199	0.82[ASN][1000 genomes]
rs7337847	0.86[ASN][1000 genomes]
rs73466004	0.84[ASN][1000 genomes]
rs9532295	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548472	0.84[ASN][1000 genomes]
rs9548487	0.82[ASN][1000 genomes]
rs9548510	0.86[ASN][1000 genomes]
rs9548511	0.86[ASN][1000 genomes]
rs9548512	0.86[ASN][1000 genomes]
rs9548516	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9594300	0.82[ASN][1000 genomes]
rs9594303	0.84[ASN][1000 genomes]
rs9603455	0.84[ASN][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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv983708	chr13:39443415-39445775	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39416200-39450200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr13:39419000-39449800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr13:39419200-39452600	Weak transcription	Fetal Intestine Large	intestine
4	chr13:39420800-39454600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr13:39424200-39457800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr13:39424800-39449600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr13:39430600-39458000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr13:39430600-39462400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr13:39432200-39458200	Weak transcription	Gastric	stomach
10	chr13:39432600-39468600	Weak transcription	Psoas Muscle	Psoas
11	chr13:39433800-39451000	Weak transcription	Fetal Kidney	kidney
12	chr13:39433800-39456600	Weak transcription	Fetal Stomach	stomach
13	chr13:39434400-39446200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr13:39434800-39448800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr13:39436000-39457800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr13:39438800-39450000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:39443000-39448400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:39443200-39450200	Weak transcription	Pancreas	Pancrea
19	chr13:39443400-39448800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr13:39443600-39452800	Weak transcription	Liver	Liver
21	chr13:39445200-39445800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr13:39445600-39449600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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