Variant report

Variant	rs4679507
Chromosome Location	chr3:59798951-59798952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11720016	0.81[ASN][1000 genomes]
rs12494457	0.82[ASN][1000 genomes]
rs12634148	0.91[CHB][hapmap];0.80[CHD][hapmap]
rs13434180	0.82[ASN][1000 genomes]
rs2251216	0.91[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap]
rs2629877	0.83[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs3100803	0.81[ASN][1000 genomes]
rs3112505	0.83[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs497767	0.82[ASN][1000 genomes]
rs505780	0.91[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs534185	0.91[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs590581	0.86[CHB][hapmap]
rs591947	0.81[ASN][1000 genomes]
rs605545	0.91[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs9846213	0.91[CHB][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014601	chr3:59666609-59888166	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv1003387	chr3:59756364-59831340	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv460562	chr3:59760118-59826778	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv590381	chr3:59760118-59826778	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv460563	chr3:59772342-59827390	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv590383	chr3:59772342-59827390	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv428085	chr3:59782509-60070116	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59770400-59825200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr3:59778200-59811200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr3:59787200-59802000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr3:59793000-59799600	Enhancers	Brain Germinal Matrix	brain
5	chr3:59794200-59800800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr3:59795400-59800000	Enhancers	Fetal Brain Male	brain
7	chr3:59796000-59799400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:59796000-59804000	Weak transcription	Right Atrium	heart
9	chr3:59796200-59803000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr3:59796400-59801600	Weak transcription	Dnd41	blood
11	chr3:59796600-59799800	Enhancers	Fetal Heart	heart
12	chr3:59796800-59799200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:59796800-59799600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr3:59796800-59801400	Weak transcription	Primary T cells from cord blood	blood
15	chr3:59796800-59803000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr3:59796800-59803600	Weak transcription	Fetal Stomach	stomach
17	chr3:59797000-59803000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:59797000-59803000	Weak transcription	Brain Anterior Caudate	brain
19	chr3:59797000-59803600	Weak transcription	Brain Angular Gyrus	brain
20	chr3:59797000-59803600	Weak transcription	Brain Hippocampus Middle	brain
21	chr3:59797000-59803600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr3:59797000-59803800	Weak transcription	Right Ventricle	heart
23	chr3:59797200-59803000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:59797200-59804000	Weak transcription	Fetal Lung	lung
25	chr3:59797600-59799200	Enhancers	Fetal Kidney	kidney
26	chr3:59797600-59799200	Enhancers	NH-A	brain
27	chr3:59797600-59800000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr3:59797800-59799000	Enhancers	HSMM	muscle
29	chr3:59797800-59799600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:59797800-59799800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr3:59797800-59803000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:59798000-59799000	Weak transcription	Fetal Brain Female	brain
33	chr3:59798000-59799200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr3:59798000-59799200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr3:59798000-59799600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr3:59798000-59799600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:59798000-59799800	Enhancers	Aorta	Aorta
38	chr3:59798200-59799000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr3:59798200-59799000	Weak transcription	Psoas Muscle	Psoas
40	chr3:59798200-59799400	Weak transcription	Left Ventricle	heart
41	chr3:59798200-59802200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr3:59798200-59803400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:59798200-59803400	Weak transcription	HSMMtube	muscle
44	chr3:59798400-59799000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:59798400-59799000	Weak transcription	Fetal Muscle Leg	muscle
46	chr3:59798400-59801800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr3:59798600-59799000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr3:59798600-59799800	Enhancers	Stomach Smooth Muscle	stomach
49	chr3:59798600-59803000	Weak transcription	Osteobl	bone
50	chr3:59798600-59803600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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