Variant report

Variant	rs56334249
Chromosome Location	chr3:59796345-59796346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2366952	1.00[EUR][1000 genomes]
rs59334442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73839175	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73841169	1.00[AMR][1000 genomes]

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:50 , 50 per page) page: 1

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	chr3:59788400-59797600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:59789400-59796800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:59789400-59797600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:59789400-59797600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:59789800-59797800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:59789800-59798000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:59791400-59797800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr3:59793000-59799600	Enhancers	Brain Germinal Matrix	brain
12	chr3:59794000-59796800	Enhancers	Fetal Stomach	stomach
13	chr3:59794000-59797000	Enhancers	Fetal Thymus	thymus
14	chr3:59794000-59798400	Enhancers	Fetal Muscle Leg	muscle
15	chr3:59794200-59798200	Enhancers	HSMMtube	muscle
16	chr3:59794200-59800800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr3:59795000-59796800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:59795000-59797000	Enhancers	Brain Angular Gyrus	brain
19	chr3:59795200-59796400	Weak transcription	NHDF-Ad	bronchial
20	chr3:59795200-59798000	Enhancers	Fetal Brain Female	brain
21	chr3:59795400-59796400	Enhancers	Brain Anterior Caudate	brain
22	chr3:59795400-59796400	Enhancers	Dnd41	blood
23	chr3:59795400-59796600	Enhancers	Thymus	Thymus
24	chr3:59795400-59798800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr3:59795400-59800000	Enhancers	Fetal Brain Male	brain
26	chr3:59795600-59796400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:59795600-59797600	Weak transcription	NH-A	brain
28	chr3:59795600-59797800	Weak transcription	HSMM	muscle
29	chr3:59795600-59798000	Weak transcription	Osteobl	bone
30	chr3:59795600-59798600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr3:59795800-59796400	Enhancers	Stomach Mucosa	stomach
32	chr3:59795800-59796800	Enhancers	Primary T cells from cord blood	blood
33	chr3:59795800-59796800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr3:59795800-59797000	Enhancers	Right Ventricle	heart
35	chr3:59795800-59797200	Enhancers	Fetal Kidney	kidney
36	chr3:59795800-59797200	Enhancers	Fetal Lung	lung
37	chr3:59796000-59796400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr3:59796000-59796800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr3:59796000-59796800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:59796000-59796800	Weak transcription	Aorta	Aorta
41	chr3:59796000-59796800	Weak transcription	Brain Hippocampus Middle	brain
42	chr3:59796000-59797000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:59796000-59797600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr3:59796000-59797800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:59796000-59799400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr3:59796000-59804000	Weak transcription	Right Atrium	heart
47	chr3:59796200-59797000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr3:59796200-59798000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr3:59796200-59798200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr3:59796200-59803000	Weak transcription	Fetal Muscle Trunk	muscle

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