Variant report

Variant	rs11813593
Chromosome Location	chr10:112634453-112634454
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:112634378-112634527	K562	blood:	n/a	n/a
2	ARID3A	chr10:112634357-112634502	K562	blood:	n/a	n/a
3	POLR2A	chr10:112633874-112635800	MCF10A-Er-Src	breast:	n/a	n/a
4	MXI1	chr10:112634417-112634517	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:112630864-112637039	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:112631001..112634625-chr10:112648231..112651298,3	MCF-7	breast:
2	chr10:112630838..112635784-chr10:112676837..112681433,10	K562	blood:
3	chr10:112632404..112635995-chr10:112677494..112680497,3	MCF-7	breast:
4	chr10:112507490..112509874-chr10:112633419..112635182,2	K562	blood:
5	chr10:112630933..112635987-chr10:112638238..112642004,12	MCF-7	breast:
6	chr10:112632441..112634715-chr8:128746659..128749011,2	MCF-7	breast:
7	chr10:112580755..112589346-chr10:112627817..112636075,27	MCF-7	breast:
8	chr10:112485811..112488574-chr10:112632571..112634625,2	MCF-7	breast:
9	chr10:112563889..112566843-chr10:112632108..112634836,3	MCF-7	breast:
10	chr10:112593951..112595858-chr10:112632498..112635240,2	MCF-7	breast:

No data

Variant related genes	Relation type
PDCD4-AS1	TF binding region
ENSG00000136997	Chromatin interaction
ENSG00000203867	Chromatin interaction
ENSG00000108061	Chromatin interaction
ENSG00000214413	Chromatin interaction
ENSG00000150593	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	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11195373	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11195376	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11195409	0.84[EUR][1000 genomes]
rs11592186	0.95[EUR][1000 genomes]
rs11592376	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11593462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11593479	0.95[EUR][1000 genomes]
rs11593592	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11593866	0.84[EUR][1000 genomes]
rs11597120	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11597460	0.95[EUR][1000 genomes]
rs11597928	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11812232	0.84[EUR][1000 genomes]
rs11812855	0.95[EUR][1000 genomes]
rs11813262	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11814418	0.89[EUR][1000 genomes]
rs11814686	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11816033	0.89[EUR][1000 genomes]
rs11816247	0.95[EUR][1000 genomes]
rs11816269	0.95[EUR][1000 genomes]
rs11816396	0.95[EUR][1000 genomes]
rs11818060	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11818747	0.95[EUR][1000 genomes]
rs11818761	0.95[EUR][1000 genomes]
rs11818771	0.89[EUR][1000 genomes]
rs11818869	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12781566	1.00[ASN][1000 genomes]
rs1322997	0.97[EUR][1000 genomes]
rs1327556	0.95[EUR][1000 genomes]
rs1535559	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128189	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1885796	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34104444	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55647014	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55858908	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56237211	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60633872	0.95[EUR][1000 genomes]
rs60681723	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60877808	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61469604	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6585018	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6585020	1.00[EUR][1000 genomes]
rs7081726	0.95[EUR][1000 genomes]
rs74156303	1.00[ASN][1000 genomes]
rs74156304	0.84[EUR][1000 genomes]
rs74156305	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156307	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156308	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156309	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156310	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156311	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156320	0.95[EUR][1000 genomes]
rs74156323	0.95[EUR][1000 genomes]
rs7923004	0.82[AMR][1000 genomes];0.95[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	chr10:112631200-112634600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr10:112631200-112634600	Active TSS	Colon Smooth Muscle	Colon
3	chr10:112631200-112634600	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr10:112631200-112634800	Active TSS	Fetal Brain Female	brain
5	chr10:112631200-112634800	Active TSS	Ovary	ovary
6	chr10:112631200-112635000	Active TSS	Duodenum Mucosa	Duodenum
7	chr10:112631400-112634600	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr10:112631400-112634600	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr10:112631400-112634600	Active TSS	NHDF-Ad	bronchial
10	chr10:112631400-112634800	Active TSS	Primary T cells fromperipheralblood	blood
11	chr10:112631400-112634800	Active TSS	Fetal Stomach	stomach
12	chr10:112631400-112634800	Active TSS	K562	blood
13	chr10:112631400-112635200	Active TSS	GM12878-XiMat	blood
14	chr10:112631600-112634800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr10:112632800-112634800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr10:112632800-112635000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr10:112632800-112643800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:112632800-112643800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:112632800-112678000	Weak transcription	Lung	lung
20	chr10:112632800-112678200	Weak transcription	Spleen	Spleen
21	chr10:112633000-112634800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr10:112633200-112634600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr10:112633200-112634800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr10:112633200-112635800	Weak transcription	Pancreas	Pancrea
25	chr10:112633200-112639000	Weak transcription	Gastric	stomach
26	chr10:112633200-112643800	Weak transcription	Esophagus	oesophagus
27	chr10:112633200-112643800	Weak transcription	Left Ventricle	heart
28	chr10:112633200-112656000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr10:112633200-112656800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:112633400-112662000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr10:112633600-112634800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:112633600-112641000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr10:112633600-112641200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr10:112633600-112641200	Weak transcription	Brain Angular Gyrus	brain
35	chr10:112633600-112653800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr10:112633600-112655200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr10:112633800-112634800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr10:112633800-112634800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr10:112633800-112634800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr10:112633800-112634800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr10:112633800-112635000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr10:112633800-112635600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr10:112633800-112635800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr10:112633800-112643800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr10:112633800-112659800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr10:112634000-112634600	Enhancers	A549	lung
47	chr10:112634000-112634600	Weak transcription	HUVEC	blood vessel
48	chr10:112634000-112635000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr10:112634000-112635400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr10:112634000-112635600	Enhancers	Fetal Lung	lung

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