Variant report

Variant	rs4917696
Chromosome Location	chr10:97297359-97297360
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:97289605..97292487-chr10:97295547..97298455,3	K562	blood:
2	chr10:97292805..97294377-chr10:97295595..97297617,2	K562	blood:
3	chr10:97290800..97293543-chr10:97293667..97298455,5	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11188337	0.95[JPT][hapmap]
rs11188342	0.82[ASW][hapmap];0.95[JPT][hapmap]
rs12252701	0.96[CEU][hapmap];0.89[JPT][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1409714	0.95[JPT][hapmap]
rs17110913	0.95[JPT][hapmap]
rs1998911	0.85[JPT][hapmap]
rs35856146	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4244317	0.81[EUR][1000 genomes]
rs4918943	0.95[JPT][hapmap]
rs7089353	0.91[ASW][hapmap];0.95[JPT][hapmap]
rs7100779	0.95[JPT][hapmap]
rs752913	0.95[JPT][hapmap]
rs7923718	0.94[JPT][hapmap]
rs943347	0.95[JPT][hapmap]
rs9783274	0.94[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1808679	chr10:97266478-97316855	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4917696	CPEB3	cis	cerebellum	SCAN
rs4917696	IDE	cis	cerebellum	SCAN
rs4917696	TBC1D12	cis	cerebellum	SCAN

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97280800-97301400	Enhancers	Fetal Heart	heart
2	chr10:97282200-97304400	Weak transcription	Brain Germinal Matrix	brain
3	chr10:97289200-97299200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr10:97289200-97309000	Enhancers	Left Ventricle	heart
5	chr10:97289400-97303800	Weak transcription	HSMM	muscle
6	chr10:97290000-97298600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr10:97290000-97301400	Enhancers	Rectal Smooth Muscle	rectum
8	chr10:97290400-97298800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr10:97290600-97301800	Weak transcription	Ovary	ovary
10	chr10:97291200-97301000	Weak transcription	Fetal Brain Female	brain
11	chr10:97291800-97308600	Enhancers	Colon Smooth Muscle	Colon
12	chr10:97292000-97298400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr10:97292200-97299600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:97292400-97298600	Enhancers	K562	blood
15	chr10:97292600-97299800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr10:97292600-97299800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:97292600-97300600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr10:97293000-97297400	Weak transcription	Pancreas	Pancrea
19	chr10:97293000-97298800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr10:97293000-97299600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr10:97293000-97299800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr10:97293000-97300400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr10:97293200-97297400	Enhancers	Fetal Stomach	stomach
24	chr10:97293200-97302800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr10:97293400-97305400	Enhancers	Right Atrium	heart
26	chr10:97293400-97306000	Enhancers	Fetal Intestine Large	intestine
27	chr10:97293600-97299800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr10:97293600-97302000	Weak transcription	Adipose Nuclei	Adipose
29	chr10:97294200-97297600	Enhancers	Brain Cingulate Gyrus	brain
30	chr10:97294400-97299200	Enhancers	Fetal Lung	lung
31	chr10:97294600-97298400	Enhancers	Brain Anterior Caudate	brain
32	chr10:97294800-97297600	Enhancers	Brain Substantia Nigra	brain
33	chr10:97295000-97297400	Weak transcription	Psoas Muscle	Psoas
34	chr10:97295000-97299400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr10:97295000-97305200	Enhancers	Stomach Mucosa	stomach
36	chr10:97295400-97297600	Enhancers	HUVEC	blood vessel
37	chr10:97295600-97298000	Enhancers	Brain Hippocampus Middle	brain
38	chr10:97295800-97297400	Enhancers	NH-A	brain
39	chr10:97295800-97297800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr10:97295800-97299000	Enhancers	HepG2	liver
41	chr10:97296000-97299800	Weak transcription	Small Intestine	intestine
42	chr10:97296200-97297400	Enhancers	Brain Angular Gyrus	brain
43	chr10:97296200-97299400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr10:97296200-97301400	Weak transcription	Colonic Mucosa	Colon
45	chr10:97296200-97306400	Enhancers	Liver	Liver
46	chr10:97296400-97298200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr10:97296400-97298400	Genic enhancers	Fetal Intestine Small	intestine
48	chr10:97296400-97298400	Enhancers	Gastric	stomach
49	chr10:97296400-97298400	Enhancers	Lung	lung
50	chr10:97296400-97299000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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