Variant report

Variant	rs11195360
Chromosome Location	chr10:112633918-112633919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr10:112633744-112634012	GM12878	blood:	n/a	n/a
2	MXI1	chr10:112630386-112634137	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr10:112633837-112633946	ProgFib	skin:	n/a	n/a
4	POLR2A	chr10:112630627-112634252	GM12878	blood:	n/a	n/a
5	MXI1	chr10:112630929-112634169	IMR90	lung:	n/a	n/a
6	POLR2A	chr10:112633874-112635800	MCF10A-Er-Src	breast:	n/a	n/a
7	CHD1	chr10:112630625-112634072	IMR90	lung:	n/a	chr10:112632208-112632218 chr10:112632079-112632089
8	POLR2A	chr10:112629899-112634013	GM12891	blood:	n/a	n/a
9	POLR2A	chr10:112630864-112637039	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:12 , 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	chr10:112506327..112507861-chr10:112632339..112634018,2	MCF-7	breast:
7	chr10:112632441..112634715-chr8:128746659..128749011,2	MCF-7	breast:
8	chr10:112580755..112589346-chr10:112627817..112636075,27	MCF-7	breast:
9	chr10:112485811..112488574-chr10:112632571..112634625,2	MCF-7	breast:
10	chr10:112630166..112634091-chr10:112649118..112655902,7	MCF-7	breast:
11	chr10:112563889..112566843-chr10:112632108..112634836,3	MCF-7	breast:
12	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
ENSG00000150593	Chromatin interaction
ENSG00000214413	Chromatin interaction
ENSG00000136997	Chromatin interaction
ENSG00000108061	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10787288	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10885062	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10885063	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10885066	0.86[EUR][1000 genomes]
rs10885067	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10885068	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs10885070	0.94[ASW][hapmap];0.95[CEU][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11195382	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11195400	0.91[CEU][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.83[MEX][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs12219468	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12416020	0.89[JPT][hapmap]
rs1327549	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1327551	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs1407696	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.92[TSI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4335469	0.85[EUR][1000 genomes]
rs4597005	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs4918612	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4918613	0.91[CEU][hapmap];0.88[CHD][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7079511	0.88[ASW][hapmap];0.91[CEU][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7901832	0.84[EUR][1000 genomes]
rs7904892	0.83[EUR][1000 genomes]
rs7915073	0.86[EUR][1000 genomes]
rs7915214	0.91[CEU][hapmap];0.86[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11195360	XPNPEP1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112631000-112634000	Active TSS	Aorta	Aorta
2	chr10:112631000-112634000	Active TSS	Psoas Muscle	Psoas
3	chr10:112631000-112634200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:112631200-112634000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:112631200-112634000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr10:112631200-112634000	Active TSS	Brain Hippocampus Middle	brain
7	chr10:112631200-112634000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:112631200-112634000	Active TSS	Right Ventricle	heart
9	chr10:112631200-112634000	Active TSS	Sigmoid Colon	Sigmoid Colon
10	chr10:112631200-112634000	Active TSS	Thymus	Thymus
11	chr10:112631200-112634000	Active TSS	HSMM	muscle
12	chr10:112631200-112634200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr10:112631200-112634200	Active TSS	Colonic Mucosa	Colon
14	chr10:112631200-112634600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr10:112631200-112634600	Active TSS	Colon Smooth Muscle	Colon
16	chr10:112631200-112634600	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr10:112631200-112634800	Active TSS	Fetal Brain Female	brain
18	chr10:112631200-112634800	Active TSS	Ovary	ovary
19	chr10:112631200-112635000	Active TSS	Duodenum Mucosa	Duodenum
20	chr10:112631400-112634000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr10:112631400-112634000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr10:112631400-112634000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr10:112631400-112634000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:112631400-112634000	Active TSS	Fetal Brain Male	brain
25	chr10:112631400-112634000	Active TSS	Fetal Muscle Trunk	muscle
26	chr10:112631400-112634000	Active TSS	NH-A	brain
27	chr10:112631400-112634200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr10:112631400-112634200	Active TSS	Fetal Intestine Large	intestine
29	chr10:112631400-112634200	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr10:112631400-112634200	Active TSS	Stomach Mucosa	stomach
31	chr10:112631400-112634400	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr10:112631400-112634400	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr10:112631400-112634400	Active TSS	Fetal Intestine Small	intestine
34	chr10:112631400-112634400	Active TSS	Placenta	Placenta
35	chr10:112631400-112634400	Active TSS	Fetal Thymus	thymus
36	chr10:112631400-112634400	Active TSS	Stomach Smooth Muscle	stomach
37	chr10:112631400-112634400	Active TSS	HMEC	breast
38	chr10:112631400-112634400	Active TSS	HSMMtube	muscle
39	chr10:112631400-112634600	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr10:112631400-112634600	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr10:112631400-112634600	Active TSS	NHDF-Ad	bronchial
42	chr10:112631400-112634800	Active TSS	Primary T cells fromperipheralblood	blood
43	chr10:112631400-112634800	Active TSS	Fetal Stomach	stomach
44	chr10:112631400-112634800	Active TSS	K562	blood
45	chr10:112631400-112635200	Active TSS	GM12878-XiMat	blood
46	chr10:112631600-112634800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr10:112632200-112634200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr10:112632200-112634200	Active TSS	Brain Germinal Matrix	brain
49	chr10:112632400-112634200	Active TSS	Right Atrium	heart
50	chr10:112632600-112634000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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