Variant report

Variant	rs10783233
Chromosome Location	chr12:48590899-48590900
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:48590791-48592764	A549	lung:	n/a	n/a
2	CTCF	chr12:48590856-48592516	SK-N-SH	brain:	n/a	n/a
3	ESRRA	chr12:48590815-48593434	GM12878	blood:	n/a	chr12:48591913-48591926 chr12:48591174-48591183

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48549910..48551454-chr12:48590661..48592818,2	K562	blood:
2	chr12:48582333..48583154-chr12:48590725..48591457,2	K562	blood:
3	chr12:48549661..48552655-chr12:48590661..48593368,4	K562	blood:
4	chr12:48589603..48591970-chr12:48853785..48856420,2	MCF-7	breast:
5	chr12:48590039..48593666-chr12:48742360..48744824,3	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR10AD1-1	chr12:48588943-48591104	ucscGeneNc_uc001rvl_1

No data

Variant related genes	Relation type
ENSG00000269514	TF binding region
ENSG00000257735	Chromatin interaction
ENSG00000177981	Chromatin interaction
ENSG00000167528	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10783231	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10783232	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10783237	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10783239	0.86[AMR][1000 genomes]
rs11168449	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11168451	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11168455	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11613781	0.81[ASN][1000 genomes]
rs12822085	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2013956	0.85[AMR][1000 genomes]
rs2409001	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4075913	0.80[ASN][1000 genomes]
rs4760620	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4760623	0.86[AMR][1000 genomes]
rs4760692	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4760698	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57655233	0.81[ASN][1000 genomes]
rs58331734	0.81[ASN][1000 genomes]
rs6580653	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6580656	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6580657	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6580660	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7294641	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7305418	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313023	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315258	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7485057	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7485824	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7953726	0.86[AMR][1000 genomes]
rs7969749	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv33956	chr12:48565643-48645561	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10783233	ZNF641	cis	Whole Blood	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48580000-48591000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:48585800-48591400	Weak transcription	Esophagus	oesophagus
3	chr12:48589000-48591600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:48589200-48591000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:48589200-48591000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:48589200-48591000	Weak transcription	Fetal Heart	heart
7	chr12:48589200-48591000	Weak transcription	Hela-S3	cervix
8	chr12:48589200-48591000	Weak transcription	NHDF-Ad	bronchial
9	chr12:48589400-48591000	Enhancers	Placenta	Placenta
10	chr12:48590000-48591000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:48590000-48591200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:48590200-48591000	Weak transcription	Fetal Kidney	kidney
13	chr12:48590600-48591000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:48590600-48591000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:48590800-48591000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:48590800-48591000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr12:48590800-48591000	Enhancers	Brain Angular Gyrus	brain
18	chr12:48590800-48591000	Enhancers	Brain Anterior Caudate	brain
19	chr12:48590800-48591000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr12:48590800-48591000	Enhancers	Fetal Brain Female	brain
21	chr12:48590800-48591000	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr12:48590800-48591000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr12:48590800-48591000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr12:48590800-48591000	Enhancers	HMEC	breast
25	chr12:48590800-48591000	Enhancers	NHEK	skin
26	chr12:48590800-48591200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:48590800-48591400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr12:48590800-48591400	Flanking Active TSS	A549	lung
29	chr12:48590800-48591600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:48590800-48592400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:48590800-48592600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:48590800-48593000	Active TSS	Breast Myoepithelial Primary Cells	Breast

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