Variant report

Variant	rs73050338
Chromosome Location	chr3:25196419-25196420
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12152294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17517413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17517455	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17517778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17517875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17518622	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17576595	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17576629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17576864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17577191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17577540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17578294	0.87[EUR][1000 genomes]
rs55750806	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55809331	1.00[AFR][1000 genomes]
rs55864034	1.00[AFR][1000 genomes]
rs56034169	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs56127830	1.00[AFR][1000 genomes]
rs56150061	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56189892	0.92[EUR][1000 genomes]
rs57259009	0.85[EUR][1000 genomes]
rs73042334	1.00[AFR][1000 genomes]
rs73042350	1.00[AFR][1000 genomes]
rs73042352	1.00[AFR][1000 genomes]
rs73044253	1.00[AFR][1000 genomes]
rs73044255	1.00[AFR][1000 genomes]
rs73044259	1.00[AFR][1000 genomes]
rs73044279	1.00[AFR][1000 genomes]
rs73044296	1.00[AFR][1000 genomes]
rs73048404	0.85[EUR][1000 genomes]
rs73048410	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73048413	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73048430	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73048442	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73048447	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73048450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73049954	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73049956	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73050322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73050329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73050336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73050339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73050340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73050349	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73050358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73050366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73050373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73052497	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73054309	0.81[EUR][1000 genomes]
rs73054326	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs73054328	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9840225	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013446	chr3:25176609-25221334	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv876631	chr3:25185448-25231571	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv949035	chr3:25194301-26084890	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:25192800-25197600	Weak transcription	Brain Angular Gyrus	brain
2	chr3:25192800-25198200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:25192800-25198200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr3:25193400-25197200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:25193400-25197200	Weak transcription	NH-A	brain
6	chr3:25193400-25197600	Weak transcription	Brain Anterior Caudate	brain
7	chr3:25193400-25197800	Weak transcription	Fetal Stomach	stomach
8	chr3:25193400-25197800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr3:25193600-25197000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:25193600-25197200	Weak transcription	Fetal Muscle Leg	muscle
11	chr3:25193600-25197400	Weak transcription	NHDF-Ad	bronchial
12	chr3:25193600-25197600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:25193800-25196800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:25193800-25197200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:25193800-25197400	Weak transcription	Osteobl	bone
16	chr3:25194000-25197400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:25194000-25197600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr3:25194000-25197600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:25194000-25211800	Weak transcription	Aorta	Aorta
20	chr3:25194600-25196600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:25194600-25196800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:25194600-25197400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr3:25194800-25197000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr3:25194800-25197400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr3:25194800-25198200	Weak transcription	Fetal Heart	heart
26	chr3:25195000-25197400	Weak transcription	Brain Hippocampus Middle	brain
27	chr3:25195000-25198800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:25195200-25197000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr3:25195400-25197600	Weak transcription	Fetal Lung	lung
30	chr3:25195400-25197600	Weak transcription	HMEC	breast
31	chr3:25195600-25197400	Weak transcription	HUVEC	blood vessel
32	chr3:25195600-25197600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:25195800-25197000	Enhancers	H9 Cell Line	embryonic stem cell
34	chr3:25196000-25197000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:25196000-25197400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr3:25196000-25197600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr3:25196000-25198000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:25196200-25197000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr3:25196200-25197000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:25196400-25196600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr3:25196400-25197200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr3:25196400-25199600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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