Variant report

Variant	rs10447748
Chromosome Location	chr7:97480919-97480920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12704946	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4729387	0.93[CEU][hapmap];0.81[CHB][hapmap];0.80[JPT][hapmap];0.88[EUR][1000 genomes]
rs7798362	0.89[ASN][1000 genomes]
rs7805044	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9641216	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv428178	chr7:97402756-97648029	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758124	chr7:97476284-97648029	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759546	chr7:97476284-97648029	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10447748	CYP3A4	cis	cerebellum	SCAN
rs10447748	STAG3	cis	cerebellum	SCAN
rs10447748	MGC72080	cis	cerebellum	SCAN

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97472800-97483000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:97474800-97482600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:97475000-97492800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:97477000-97481200	Weak transcription	Brain Substantia Nigra	brain
5	chr7:97477200-97485400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:97477400-97481200	Weak transcription	Pancreas	Pancrea
7	chr7:97477400-97481200	Weak transcription	HSMM	muscle
8	chr7:97477600-97500600	Weak transcription	Thymus	Thymus
9	chr7:97477800-97481400	Weak transcription	Fetal Lung	lung
10	chr7:97478400-97481000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:97478600-97481000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:97478600-97481200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:97478600-97483400	Weak transcription	Osteobl	bone
14	chr7:97478800-97481000	Weak transcription	Primary T cells from cord blood	blood
15	chr7:97478800-97481000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr7:97478800-97481200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:97479000-97481000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:97479000-97481200	Weak transcription	HepG2	liver
19	chr7:97479000-97501000	Weak transcription	Fetal Intestine Large	intestine
20	chr7:97479200-97481000	Weak transcription	Aorta	Aorta
21	chr7:97479200-97481000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:97479200-97481000	Weak transcription	Gastric	stomach
23	chr7:97479200-97481000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:97479200-97481200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr7:97479200-97486200	Weak transcription	Small Intestine	intestine
26	chr7:97479200-97500800	Weak transcription	Right Ventricle	heart
27	chr7:97479400-97481200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:97479400-97481200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:97479400-97481200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:97479400-97481200	Weak transcription	Adipose Nuclei	Adipose
31	chr7:97479400-97481200	Weak transcription	Brain Anterior Caudate	brain
32	chr7:97479400-97481200	Weak transcription	Esophagus	oesophagus
33	chr7:97479400-97481200	Weak transcription	Fetal Thymus	thymus
34	chr7:97479400-97481200	Weak transcription	Spleen	Spleen
35	chr7:97479400-97483400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr7:97479400-97484400	Weak transcription	Hela-S3	cervix
37	chr7:97479400-97487200	Weak transcription	Left Ventricle	heart
38	chr7:97479400-97501000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:97479400-97501000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr7:97479600-97481200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:97479600-97481200	Weak transcription	Fetal Brain Female	brain
42	chr7:97479600-97481200	Weak transcription	Fetal Intestine Small	intestine
43	chr7:97479600-97481200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr7:97479600-97481400	Weak transcription	HMEC	breast
45	chr7:97479600-97483400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr7:97479600-97486800	Weak transcription	NH-A	brain
47	chr7:97479600-97487000	Weak transcription	Fetal Stomach	stomach
48	chr7:97479600-97501000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:97479800-97481200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:97479800-97482200	Weak transcription	Psoas Muscle	Psoas

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