Variant report

Variant	rs12784663
Chromosome Location	chr10:49673134-49673135
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49514372..49515875-chr10:49672720..49674716,2	K562	blood:
2	chr10:49672745..49673424-chr3:63989436..63990213,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239653	Chromatin interaction
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10857575	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857576	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11101332	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11101334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101335	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12766232	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1867578	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2034199	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4342982	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4838595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4838596	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4838600	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49653000-49673600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr10:49655200-49677800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:49657800-49677600	Weak transcription	HSMMtube	muscle
4	chr10:49665200-49673400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:49665400-49675000	Weak transcription	HUVEC	blood vessel
6	chr10:49668200-49674400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:49668400-49676200	Weak transcription	NHLF	lung
8	chr10:49668800-49673200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr10:49668800-49674200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:49669000-49674000	Enhancers	K562	blood
11	chr10:49669200-49674800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:49670200-49675200	Weak transcription	Osteobl	bone
13	chr10:49670600-49673600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:49670800-49673600	Enhancers	Ovary	ovary
15	chr10:49670800-49674200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr10:49670800-49674800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr10:49671000-49680400	Enhancers	Primary hematopoietic stem cells	blood
18	chr10:49671200-49673800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr10:49671200-49674000	Enhancers	Fetal Heart	heart
20	chr10:49671200-49674400	Enhancers	Colon Smooth Muscle	Colon
21	chr10:49671200-49675400	Enhancers	Brain Hippocampus Middle	brain
22	chr10:49671400-49673600	Enhancers	Rectal Smooth Muscle	rectum
23	chr10:49671400-49673800	Enhancers	Brain Cingulate Gyrus	brain
24	chr10:49671400-49673800	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr10:49671400-49673800	Enhancers	Fetal Lung	lung
26	chr10:49671400-49674200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr10:49671400-49674200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr10:49671400-49674200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:49671400-49674800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr10:49671400-49675200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:49671400-49675600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr10:49671600-49673200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr10:49671800-49673400	Weak transcription	Brain Angular Gyrus	brain
34	chr10:49671800-49674200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr10:49671800-49674400	Enhancers	Esophagus	oesophagus
36	chr10:49672000-49673400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr10:49672000-49673400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr10:49672000-49673600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr10:49672200-49673200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr10:49672200-49673200	Weak transcription	Lung	lung
41	chr10:49672200-49674200	Weak transcription	Right Atrium	heart
42	chr10:49672400-49673400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr10:49672400-49673600	Weak transcription	NHDF-Ad	bronchial
44	chr10:49672400-49674200	Bivalent Enhancer	Fetal Stomach	stomach
45	chr10:49672400-49675200	Bivalent Enhancer	Placenta	Placenta
46	chr10:49672400-49675400	Enhancers	Brain Substantia Nigra	brain
47	chr10:49672400-49677200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr10:49672400-49683400	Weak transcription	Spleen	Spleen
49	chr10:49672600-49673200	Enhancers	Right Ventricle	heart
50	chr10:49672600-49673800	Enhancers	Fetal Brain Male	brain

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