Variant report

Variant	rs16932576
Chromosome Location	chr11:16138015-16138016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr11:16137901-16138262	SH-SY5Y	brain:	n/a	chr11:16138033-16138043 chr11:16138033-16138040

No.	Distal block	Cell Line	Cell type
1	chr11:16130157..16133054-chr11:16135453..16138445,2	K562	blood:
2	chr11:16134325..16135863-chr11:16136123..16138157,2	K562	blood:
3	chr11:16133433..16135825-chr11:16136532..16138157,2	K562	blood:

Variant related genes	Relation type
SOX6	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10500822	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10500823	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10500824	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10500825	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12573976	0.81[ASN][1000 genomes]
rs12574107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12575408	0.81[ASN][1000 genomes]
rs12575412	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12576286	0.80[ASN][1000 genomes]
rs12577495	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12577528	0.81[ASN][1000 genomes]
rs1378308	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1455100	0.80[ASN][1000 genomes]
rs1455101	0.81[ASN][1000 genomes]
rs1598296	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16924862	0.80[ASN][1000 genomes]
rs16932469	0.80[ASN][1000 genomes]
rs16932552	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16932573	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932585	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16932620	0.81[ASN][1000 genomes]
rs16932622	0.81[ASN][1000 genomes]
rs16932625	0.81[ASN][1000 genomes]
rs16932630	0.81[ASN][1000 genomes]
rs16932634	0.89[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs16932650	0.81[ASN][1000 genomes]
rs16932653	0.81[ASN][1000 genomes]
rs16932655	0.81[ASN][1000 genomes]
rs16932664	0.81[ASN][1000 genomes]
rs16932670	0.80[ASN][1000 genomes]
rs1840422	0.81[ASN][1000 genomes]
rs1840423	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1840424	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1960271	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2034792	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2351681	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2351682	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2351955	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2935046	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35972839	0.81[ASN][1000 genomes]
rs4254041	0.81[ASN][1000 genomes]
rs4279976	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4506613	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55689121	0.81[ASN][1000 genomes]
rs55865094	0.81[ASN][1000 genomes]
rs59412323	0.81[ASN][1000 genomes]
rs59583634	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61094171	0.83[AFR][1000 genomes]
rs61347512	0.90[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7107697	0.81[ASN][1000 genomes]
rs7110987	0.81[ASN][1000 genomes]
rs7114427	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7126432	0.81[ASN][1000 genomes]
rs7932204	0.80[ASN][1000 genomes]
rs7936647	0.80[ASN][1000 genomes]
rs7946235	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7947337	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7947622	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs966933	0.89[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs993698	0.81[ASN][1000 genomes]
rs996184	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[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	nsv553562	chr11:16112180-16220289	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv529731	chr11:16122782-16468170	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16133600-16138200	Enhancers	Liver	Liver
2	chr11:16133600-16138200	Weak transcription	Left Ventricle	heart
3	chr11:16133600-16138600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:16133800-16141600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:16133800-16146400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:16134000-16139800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr11:16134400-16139800	Weak transcription	Fetal Kidney	kidney
8	chr11:16134800-16139000	Weak transcription	Brain Germinal Matrix	brain
9	chr11:16135200-16139400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:16136400-16139600	Weak transcription	Fetal Lung	lung
11	chr11:16136800-16144000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:16137200-16138400	Weak transcription	Small Intestine	intestine
13	chr11:16137200-16139600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:16137200-16140000	Weak transcription	Gastric	stomach
15	chr11:16137400-16138200	Weak transcription	Fetal Intestine Small	intestine
16	chr11:16137400-16138400	Weak transcription	Fetal Muscle Leg	muscle
17	chr11:16137400-16138400	Enhancers	HepG2	liver
18	chr11:16137400-16139400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:16137400-16139600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr11:16137400-16140600	Weak transcription	Fetal Heart	heart
21	chr11:16137400-16146600	Weak transcription	Pancreas	Pancrea
22	chr11:16138000-16138600	Enhancers	Psoas Muscle	Psoas

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