Variant report

Variant	rs7067540
Chromosome Location	chr10:112621837-112621838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:112621516..112623102-chr10:112660761..112662720,2	K562	blood:
2	chr10:112608440..112622028-chr10:112627331..112635995,26	MCF-7	breast:
3	chr10:112621767..112623354-chr10:112678142..112681449,3	K562	blood:
4	chr10:112619161..112621950-chr10:112630112..112633411,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150593	Chromatin interaction
ENSG00000232470	Chromatin interaction
ENSG00000203497	Chromatin interaction
ENSG00000214413	Chromatin interaction
ENSG00000108061	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10787287	0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs10787289	0.83[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10787292	0.88[TSI][hapmap]
rs1322995	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1327548	0.80[EUR][1000 genomes]
rs1341051	0.83[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1341053	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1410057	0.88[TSI][hapmap]
rs4918607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7086350	0.82[TSI][hapmap]
rs7095404	0.88[TSI][hapmap]
rs7895872	0.83[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7899762	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv896003	chr10:112579299-112631211	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	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
5	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
rs7067540	XPNPEP1	cis	cerebellum	SCAN

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112611200-112630600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:112614800-112624400	Weak transcription	Aorta	Aorta
3	chr10:112617000-112622000	Enhancers	Primary B cells from cord blood	blood
4	chr10:112617000-112622400	Enhancers	Primary T cells from cord blood	blood
5	chr10:112617000-112622800	Enhancers	Fetal Intestine Large	intestine
6	chr10:112617000-112623000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
7	chr10:112617000-112623200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr10:112617000-112624200	Enhancers	Primary hematopoietic stem cells	blood
9	chr10:112617000-112624600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr10:112617000-112624600	Enhancers	Primary B cells from peripheral blood	blood
11	chr10:112617000-112624600	Enhancers	Primary T cells fromperipheralblood	blood
12	chr10:112617000-112624600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr10:112617000-112628600	Enhancers	Placenta	Placenta
14	chr10:112617200-112624400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:112617400-112624200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr10:112617400-112624200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr10:112617800-112630600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:112618000-112623000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr10:112618000-112624600	Weak transcription	Left Ventricle	heart
20	chr10:112618400-112630800	Enhancers	Fetal Thymus	thymus
21	chr10:112618600-112623800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr10:112618600-112624000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:112618600-112624400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr10:112618600-112624600	Enhancers	Duodenum Mucosa	Duodenum
25	chr10:112619400-112623800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr10:112619400-112624800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr10:112619800-112622200	Weak transcription	Fetal Stomach	stomach
28	chr10:112619800-112624200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr10:112619800-112624200	Enhancers	Thymus	Thymus
30	chr10:112619800-112624400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr10:112619800-112624400	Weak transcription	Brain Angular Gyrus	brain
32	chr10:112619800-112627400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr10:112620000-112623800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr10:112620000-112624600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr10:112620000-112624600	Weak transcription	Brain Hippocampus Middle	brain
36	chr10:112620000-112624800	Weak transcription	Psoas Muscle	Psoas
37	chr10:112620200-112623000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr10:112620200-112623400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr10:112620200-112623600	Weak transcription	HSMM	muscle
40	chr10:112620200-112624400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr10:112620200-112624600	Enhancers	NHEK	skin
42	chr10:112620400-112622200	Weak transcription	HSMMtube	muscle
43	chr10:112620400-112623200	Enhancers	HMEC	breast
44	chr10:112620400-112623600	Weak transcription	Brain Anterior Caudate	brain
45	chr10:112620400-112624400	Weak transcription	Osteobl	bone
46	chr10:112620400-112624600	Weak transcription	Colon Smooth Muscle	Colon
47	chr10:112620600-112623600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr10:112620600-112623800	Weak transcription	Fetal Lung	lung
49	chr10:112620600-112623800	Weak transcription	Hela-S3	cervix
50	chr10:112620600-112624400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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