Variant report

Variant	rs11593462
Chromosome Location	chr10:112635448-112635449
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:112633874-112635800	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr10:112630864-112637039	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:112630838..112635784-chr10:112676837..112681433,10	K562	blood:
2	chr10:112632404..112635995-chr10:112677494..112680497,3	MCF-7	breast:
3	chr10:112634462..112636420-chr10:112660192..112662070,2	K562	blood:
4	chr10:112630933..112635987-chr10:112638238..112642004,12	MCF-7	breast:
5	chr10:112580755..112589346-chr10:112627817..112636075,27	MCF-7	breast:
6	chr10:112582606..112584784-chr10:112635301..112639130,3	MCF-7	breast:

No data

Variant related genes	Relation type
PDCD4	TF binding region
PDCD4-AS1	TF binding region
ENSG00000214413	Chromatin interaction
ENSG00000203867	Chromatin interaction
ENSG00000150593	Chromatin interaction
ENSG00000108061	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11195368	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11195373	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11195376	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11195409	0.89[EUR][1000 genomes]
rs11592186	1.00[EUR][1000 genomes]
rs11592376	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11593479	1.00[EUR][1000 genomes]
rs11593592	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11593866	0.89[EUR][1000 genomes]
rs11597120	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11597460	1.00[EUR][1000 genomes]
rs11597928	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11812232	0.89[EUR][1000 genomes]
rs11812855	1.00[EUR][1000 genomes]
rs11813262	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11813593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11814418	0.94[EUR][1000 genomes]
rs11814686	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11816033	0.94[EUR][1000 genomes]
rs11816247	1.00[EUR][1000 genomes]
rs11816269	1.00[EUR][1000 genomes]
rs11816396	1.00[EUR][1000 genomes]
rs11818060	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11818747	1.00[EUR][1000 genomes]
rs11818761	1.00[EUR][1000 genomes]
rs11818771	0.95[EUR][1000 genomes]
rs11818869	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12781566	1.00[ASN][1000 genomes]
rs1322997	0.92[EUR][1000 genomes]
rs1327556	1.00[EUR][1000 genomes]
rs1535559	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128189	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1885796	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34104444	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55647014	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55858908	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56237211	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60633872	1.00[EUR][1000 genomes]
rs60681723	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60877808	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61469604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6585018	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6585020	0.95[EUR][1000 genomes]
rs7081726	1.00[EUR][1000 genomes]
rs74156303	1.00[ASN][1000 genomes]
rs74156304	0.84[EUR][1000 genomes]
rs74156305	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156307	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156308	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156309	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156310	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156311	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156320	1.00[EUR][1000 genomes]
rs74156323	1.00[EUR][1000 genomes]
rs7923004	0.82[AMR][1000 genomes];1.00[EUR][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	nsv1045608	chr10:112524813-112677557	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1041758	chr10:112552897-112677557	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv896002	chr10:112579299-112638028	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1051566	chr10:112580049-112730573	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112632800-112643800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:112632800-112643800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:112632800-112678000	Weak transcription	Lung	lung
4	chr10:112632800-112678200	Weak transcription	Spleen	Spleen
5	chr10:112633200-112635800	Weak transcription	Pancreas	Pancrea
6	chr10:112633200-112639000	Weak transcription	Gastric	stomach
7	chr10:112633200-112643800	Weak transcription	Esophagus	oesophagus
8	chr10:112633200-112643800	Weak transcription	Left Ventricle	heart
9	chr10:112633200-112656000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:112633200-112656800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:112633400-112662000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr10:112633600-112641000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr10:112633600-112641200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr10:112633600-112641200	Weak transcription	Brain Angular Gyrus	brain
15	chr10:112633600-112653800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr10:112633600-112655200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr10:112633800-112635600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr10:112633800-112635800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr10:112633800-112643800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr10:112633800-112659800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr10:112634000-112635600	Enhancers	Fetal Lung	lung
22	chr10:112634000-112635800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr10:112634000-112635800	Weak transcription	Small Intestine	intestine
24	chr10:112634000-112636000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr10:112634000-112637000	Weak transcription	Brain Substantia Nigra	brain
26	chr10:112634000-112638200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr10:112634000-112638400	Weak transcription	NH-A	brain
28	chr10:112634000-112638600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr10:112634000-112638800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr10:112634000-112639000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr10:112634000-112639200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr10:112634000-112640800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr10:112634000-112641000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr10:112634000-112641000	Weak transcription	Aorta	Aorta
35	chr10:112634000-112641000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr10:112634000-112643400	Weak transcription	Fetal Muscle Leg	muscle
37	chr10:112634000-112643800	Weak transcription	Thymus	Thymus
38	chr10:112634000-112647000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr10:112634000-112649400	Weak transcription	Brain Hippocampus Middle	brain
40	chr10:112634000-112655000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr10:112634000-112655800	Weak transcription	Psoas Muscle	Psoas
42	chr10:112634000-112656000	Weak transcription	Right Ventricle	heart
43	chr10:112634000-112662400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr10:112634200-112635600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr10:112634200-112635600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr10:112634200-112635600	Enhancers	Hela-S3	cervix
47	chr10:112634200-112635800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr10:112634200-112635800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr10:112634200-112635800	Enhancers	Liver	Liver
50	chr10:112634200-112635800	Weak transcription	HepG2	liver

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