Variant report

Variant	rs2171077
Chromosome Location	chr3:59797400-59797401
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2450165	0.86[AMR][1000 genomes]
rs2605441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2629899	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28444511	0.90[AMR][1000 genomes]
rs620783	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:54 , 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	chr3:59788400-59797600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:59789400-59797600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr3:59789400-59797600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:59789800-59797800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:59789800-59798000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:59791400-59797800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr3:59793000-59799600	Enhancers	Brain Germinal Matrix	brain
11	chr3:59794000-59798400	Enhancers	Fetal Muscle Leg	muscle
12	chr3:59794200-59798200	Enhancers	HSMMtube	muscle
13	chr3:59794200-59800800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr3:59795200-59798000	Enhancers	Fetal Brain Female	brain
15	chr3:59795400-59798800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr3:59795400-59800000	Enhancers	Fetal Brain Male	brain
17	chr3:59795600-59797600	Weak transcription	NH-A	brain
18	chr3:59795600-59797800	Weak transcription	HSMM	muscle
19	chr3:59795600-59798000	Weak transcription	Osteobl	bone
20	chr3:59795600-59798600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr3:59796000-59797600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr3:59796000-59797800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:59796000-59799400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr3:59796000-59804000	Weak transcription	Right Atrium	heart
25	chr3:59796200-59798000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr3:59796200-59798200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:59796200-59803000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr3:59796400-59798000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:59796400-59801600	Weak transcription	Dnd41	blood
30	chr3:59796600-59797400	Enhancers	Primary B cells from cord blood	blood
31	chr3:59796600-59798000	Enhancers	Primary B cells from peripheral blood	blood
32	chr3:59796600-59799800	Enhancers	Fetal Heart	heart
33	chr3:59796800-59799200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:59796800-59799600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr3:59796800-59801400	Weak transcription	Primary T cells from cord blood	blood
36	chr3:59796800-59803000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr3:59796800-59803600	Weak transcription	Fetal Stomach	stomach
38	chr3:59797000-59797400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr3:59797000-59797400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:59797000-59797400	Weak transcription	Aorta	Aorta
41	chr3:59797000-59798400	Weak transcription	NHDF-Ad	bronchial
42	chr3:59797000-59803000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:59797000-59803000	Weak transcription	Brain Anterior Caudate	brain
44	chr3:59797000-59803600	Weak transcription	Brain Angular Gyrus	brain
45	chr3:59797000-59803600	Weak transcription	Brain Hippocampus Middle	brain
46	chr3:59797000-59803600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr3:59797000-59803800	Weak transcription	Right Ventricle	heart
48	chr3:59797200-59797600	Weak transcription	Fetal Kidney	kidney
49	chr3:59797200-59803000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr3:59797200-59804000	Weak transcription	Fetal Lung	lung

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