Variant report

Variant	rs11195361
Chromosome Location	chr10:112634065-112634066
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr10:112633992-112634111	GM12878	blood:	n/a	n/a
2	MXI1	chr10:112630386-112634137	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr10:112630627-112634252	GM12878	blood:	n/a	n/a
4	MXI1	chr10:112630929-112634169	IMR90	lung:	n/a	n/a
5	POLR2A	chr10:112633874-112635800	MCF10A-Er-Src	breast:	n/a	n/a
6	CHD1	chr10:112630625-112634072	IMR90	lung:	n/a	chr10:112632208-112632218 chr10:112632079-112632089
7	POLR2A	chr10:112630864-112637039	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:11 , 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	chr10:112630166..112634091-chr10:112649118..112655902,7	MCF-7	breast:
10	chr10:112563889..112566843-chr10:112632108..112634836,3	MCF-7	breast:
11	chr10:112593951..112595858-chr10:112632498..112635240,2	MCF-7	breast:

No data

Variant related genes	Relation type
PDCD4-AS1	TF binding region
ENSG00000203867	Chromatin interaction
ENSG00000136997	Chromatin interaction
ENSG00000214413	Chromatin interaction
ENSG00000150593	Chromatin interaction
ENSG00000108061	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10787286	0.84[ASN][1000 genomes]
rs10885059	0.84[ASN][1000 genomes]
rs10885060	0.84[ASN][1000 genomes]
rs11195366	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12240685	0.83[AFR][1000 genomes]
rs12258559	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12261765	0.83[AFR][1000 genomes]
rs2146544	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34401279	0.81[AFR][1000 genomes]
rs35394459	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs35946882	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs3763692	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7089687	0.84[ASN][1000 genomes]
rs7919142	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[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	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	chr10:112631000-112634200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:112631200-112634200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr10:112631200-112634200	Active TSS	Colonic Mucosa	Colon
4	chr10:112631200-112634600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr10:112631200-112634600	Active TSS	Colon Smooth Muscle	Colon
6	chr10:112631200-112634600	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr10:112631200-112634800	Active TSS	Fetal Brain Female	brain
8	chr10:112631200-112634800	Active TSS	Ovary	ovary
9	chr10:112631200-112635000	Active TSS	Duodenum Mucosa	Duodenum
10	chr10:112631400-112634200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:112631400-112634200	Active TSS	Fetal Intestine Large	intestine
12	chr10:112631400-112634200	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr10:112631400-112634200	Active TSS	Stomach Mucosa	stomach
14	chr10:112631400-112634400	Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr10:112631400-112634400	Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr10:112631400-112634400	Active TSS	Fetal Intestine Small	intestine
17	chr10:112631400-112634400	Active TSS	Placenta	Placenta
18	chr10:112631400-112634400	Active TSS	Fetal Thymus	thymus
19	chr10:112631400-112634400	Active TSS	Stomach Smooth Muscle	stomach
20	chr10:112631400-112634400	Active TSS	HMEC	breast
21	chr10:112631400-112634400	Active TSS	HSMMtube	muscle
22	chr10:112631400-112634600	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr10:112631400-112634600	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr10:112631400-112634600	Active TSS	NHDF-Ad	bronchial
25	chr10:112631400-112634800	Active TSS	Primary T cells fromperipheralblood	blood
26	chr10:112631400-112634800	Active TSS	Fetal Stomach	stomach
27	chr10:112631400-112634800	Active TSS	K562	blood
28	chr10:112631400-112635200	Active TSS	GM12878-XiMat	blood
29	chr10:112631600-112634800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr10:112632200-112634200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr10:112632200-112634200	Active TSS	Brain Germinal Matrix	brain
32	chr10:112632400-112634200	Active TSS	Right Atrium	heart
33	chr10:112632600-112634200	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr10:112632800-112634800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr10:112632800-112635000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:112632800-112643800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr10:112632800-112643800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr10:112632800-112678000	Weak transcription	Lung	lung
39	chr10:112632800-112678200	Weak transcription	Spleen	Spleen
40	chr10:112633000-112634400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr10:112633000-112634800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr10:112633200-112634600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr10:112633200-112634800	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr10:112633200-112635800	Weak transcription	Pancreas	Pancrea
45	chr10:112633200-112639000	Weak transcription	Gastric	stomach
46	chr10:112633200-112643800	Weak transcription	Esophagus	oesophagus
47	chr10:112633200-112643800	Weak transcription	Left Ventricle	heart
48	chr10:112633200-112656000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr10:112633200-112656800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:112633400-112634200	Flanking Active TSS	Dnd41	blood

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