Variant report

Variant	rs10040770
Chromosome Location	chr5:112631267-112631268
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr5:112629282-112631792	IMR90	lung:	n/a	chr5:112629567-112629583 chr5:112629565-112629574 chr5:112629566-112629573
2	KAP1	chr5:112630227-112631324	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
MCC	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10038017	1.00[EUR][1000 genomes]
rs10040533	0.94[EUR][1000 genomes]
rs10044201	0.94[EUR][1000 genomes]
rs10051109	0.94[EUR][1000 genomes]
rs10058535	0.94[EUR][1000 genomes]
rs10059129	0.94[EUR][1000 genomes]
rs10070990	0.94[EUR][1000 genomes]
rs10074346	0.94[EUR][1000 genomes]
rs10075447	0.94[EUR][1000 genomes]
rs10478121	0.94[EUR][1000 genomes]
rs10519344	1.00[EUR][1000 genomes]
rs11953478	0.94[EUR][1000 genomes]
rs11954016	0.94[EUR][1000 genomes]
rs11954410	0.94[EUR][1000 genomes]
rs11958734	1.00[EUR][1000 genomes]
rs12108831	1.00[EUR][1000 genomes]
rs13356396	0.81[EUR][1000 genomes]
rs13361059	1.00[EUR][1000 genomes]
rs13361060	1.00[EUR][1000 genomes]
rs13362158	0.94[EUR][1000 genomes]
rs17135493	0.85[EUR][1000 genomes]
rs1882620	1.00[EUR][1000 genomes]
rs2068922	1.00[EUR][1000 genomes]
rs28494592	1.00[EUR][1000 genomes]
rs55794576	0.94[EUR][1000 genomes]
rs56875463	0.94[EUR][1000 genomes]
rs6874561	0.85[EUR][1000 genomes]
rs73779001	1.00[EUR][1000 genomes]
rs73779022	0.94[EUR][1000 genomes]
rs73781513	1.00[EUR][1000 genomes]
rs73781514	1.00[EUR][1000 genomes]
rs7700940	0.89[EUR][1000 genomes]
rs7719166	0.94[EUR][1000 genomes]
rs9285877	1.00[EUR][1000 genomes]
rs9326881	1.00[EUR][1000 genomes]
rs9326882	1.00[EUR][1000 genomes]
rs9326883	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1018078	chr5:112615220-112657404	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112626800-112631400	Active TSS	Ovary	ovary
2	chr5:112628600-112631400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr5:112629000-112631400	Bivalent/Poised TSS	Thymus	Thymus
4	chr5:112630600-112631400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:112630600-112631600	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr5:112630800-112631400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:112630800-112631400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:112630800-112631400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr5:112630800-112631400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr5:112630800-112631400	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr5:112630800-112631400	Flanking Active TSS	Fetal Muscle Leg	muscle
12	chr5:112630800-112631400	Flanking Active TSS	NHLF	lung
13	chr5:112630800-112631400	Flanking Active TSS	Osteobl	bone
14	chr5:112630800-112631600	Enhancers	Small Intestine	intestine
15	chr5:112630800-112631800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:112630800-112631800	Enhancers	Placenta	Placenta
17	chr5:112630800-112632200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:112631000-112631400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:112631000-112631400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:112631000-112631400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr5:112631000-112631400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
22	chr5:112631000-112631400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
23	chr5:112631000-112631400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:112631000-112631400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:112631000-112631400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:112631000-112631400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:112631000-112631400	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr5:112631000-112631400	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr5:112631000-112631400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:112631000-112631400	Flanking Active TSS	Fetal Heart	heart
31	chr5:112631000-112631400	Bivalent Enhancer	Fetal Thymus	thymus
32	chr5:112631000-112631400	Bivalent Enhancer	Stomach Mucosa	stomach
33	chr5:112631000-112631400	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr5:112631000-112631600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:112631000-112631600	Bivalent Enhancer	HepG2	liver
36	chr5:112631000-112632000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
37	chr5:112631000-112632000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:112631000-112632200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:112631200-112631400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
40	chr5:112631200-112631400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:112631200-112631400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr5:112631200-112631400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:112631200-112631400	Bivalent Enhancer	Primary T cells from cord blood	blood
44	chr5:112631200-112631400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr5:112631200-112631400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr5:112631200-112631400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr5:112631200-112631400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr5:112631200-112631400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr5:112631200-112631400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
50	chr5:112631200-112631400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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