Variant report

Variant	rs8053535
Chromosome Location	chr16:79786810-79786811
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:79780045..79782681-chr16:79783424..79786926,3	K562	blood:
2	chr16:79785733..79789270-chr16:79790871..79794406,3	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11150177	1.00[CHB][hapmap]
rs12443838	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17690030	0.85[EUR][1000 genomes]
rs28414130	0.85[EUR][1000 genomes]
rs28687312	0.85[EUR][1000 genomes]
rs4302048	0.81[AFR][1000 genomes]
rs4458007	0.85[EUR][1000 genomes]
rs4506911	1.00[JPT][hapmap]
rs55981441	0.85[EUR][1000 genomes]
rs55993612	0.85[EUR][1000 genomes]
rs56006814	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56052219	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56119147	0.85[EUR][1000 genomes]
rs62041260	0.85[EUR][1000 genomes]
rs62041303	0.85[EUR][1000 genomes]
rs62041304	0.83[EUR][1000 genomes]
rs62041308	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62041309	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62041310	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62041311	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041312	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62041313	0.98[EUR][1000 genomes]
rs62041316	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041317	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041318	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041319	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041320	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041323	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041324	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62041325	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62041326	0.94[EUR][1000 genomes]
rs62041327	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62041339	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62041344	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62041345	0.83[EUR][1000 genomes]
rs62041346	0.93[EUR][1000 genomes]
rs62041347	0.81[EUR][1000 genomes]
rs62041348	0.83[EUR][1000 genomes]
rs62041349	0.83[EUR][1000 genomes]
rs62043346	0.85[EUR][1000 genomes]
rs62043347	0.85[EUR][1000 genomes]
rs62043348	0.85[EUR][1000 genomes]
rs62043349	0.85[EUR][1000 genomes]
rs62043352	0.85[EUR][1000 genomes]
rs62043353	0.85[EUR][1000 genomes]
rs62043354	0.85[EUR][1000 genomes]
rs62043355	0.85[EUR][1000 genomes]
rs62043356	0.85[EUR][1000 genomes]
rs62043357	0.85[EUR][1000 genomes]
rs62043359	0.85[EUR][1000 genomes]
rs7187139	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7189057	0.82[AFR][1000 genomes]
rs7498926	1.00[CHB][hapmap]
rs8058180	0.96[AFR][1000 genomes]
rs9989427	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833296	chr16:79692236-79889727	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv833297	chr16:79732501-79920419	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv2755409	chr16:79776699-79816299	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8053535	SORBS2	trans	lymphoblastoid	seeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79783600-79788400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr16:79783600-79789000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr16:79784000-79787200	Weak transcription	Lung	lung
4	chr16:79785000-79787200	Enhancers	HMEC	breast
5	chr16:79785000-79787200	Enhancers	NHEK	skin
6	chr16:79785000-79788200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr16:79785000-79788600	Enhancers	NHDF-Ad	bronchial
8	chr16:79785000-79789200	Enhancers	Fetal Intestine Small	intestine
9	chr16:79785000-79789400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:79785200-79789200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:79785200-79789200	Enhancers	Fetal Intestine Large	intestine
12	chr16:79785400-79788400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr16:79785800-79787000	Enhancers	NHLF	lung
14	chr16:79786200-79787200	Weak transcription	Fetal Lung	lung
15	chr16:79786200-79787400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr16:79786200-79787600	Weak transcription	Adipose Nuclei	Adipose
17	chr16:79786200-79787600	Weak transcription	Fetal Stomach	stomach
18	chr16:79786200-79788000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr16:79786200-79788400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr16:79786200-79789400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:79786200-79791800	Weak transcription	Esophagus	oesophagus
22	chr16:79786400-79788200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr16:79786600-79787000	Weak transcription	Colon Smooth Muscle	Colon
24	chr16:79786600-79787600	Enhancers	Small Intestine	intestine
25	chr16:79786600-79788200	Weak transcription	Osteobl	bone
26	chr16:79786600-79789000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr16:79786600-79789200	Enhancers	Fetal Thymus	thymus
28	chr16:79786800-79787200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr16:79786800-79788400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:79786800-79788400	Weak transcription	Fetal Muscle Leg	muscle

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