Variant report

Variant	rs73050340
Chromosome Location	chr3:25198421-25198422
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];0.93[EUR][1000 genomes]
rs17517413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17517455	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17517778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17517875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17518622	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17576595	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17576629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17576864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17577191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17577540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17578294	0.88[EUR][1000 genomes]
rs55750806	1.00[AMR][1000 genomes];0.96[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];0.92[EUR][1000 genomes]
rs56189892	0.91[EUR][1000 genomes]
rs57259009	0.84[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	0.84[EUR][1000 genomes]
rs73048410	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73048413	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73048430	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73048442	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73048447	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73048450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73049954	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[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];0.97[EUR][1000 genomes]
rs73050329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73050336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73050338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73050339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73050349	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73050358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[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];0.93[EUR][1000 genomes]
rs73052497	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73054309	0.83[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];0.88[EUR][1000 genomes]
rs9840225	0.87[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	chr3:25194000-25211800	Weak transcription	Aorta	Aorta
2	chr3:25195000-25198800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:25196400-25199600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:25196800-25200400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:25197000-25198600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:25197000-25199200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:25197200-25198600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:25197200-25198800	Enhancers	HSMM	muscle
9	chr3:25197400-25198600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr3:25197400-25198600	Enhancers	NHDF-Ad	bronchial
11	chr3:25197400-25198800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr3:25197400-25198800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:25197400-25199000	Enhancers	HUVEC	blood vessel
14	chr3:25197600-25198600	Enhancers	Stomach Smooth Muscle	stomach
15	chr3:25197600-25198800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:25197600-25198800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:25197600-25198800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:25197600-25198800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr3:25197600-25198800	Enhancers	Fetal Lung	lung
20	chr3:25197600-25198800	Enhancers	HMEC	breast
21	chr3:25197600-25205200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:25197800-25198600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:25197800-25198600	Enhancers	Colon Smooth Muscle	Colon
24	chr3:25197800-25198600	Enhancers	Fetal Stomach	stomach
25	chr3:25197800-25198600	Enhancers	Rectal Smooth Muscle	rectum
26	chr3:25197800-25199200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr3:25197800-25200600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr3:25198000-25198600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr3:25198000-25198600	Flanking Active TSS	NH-A	brain
30	chr3:25198000-25199000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr3:25198200-25198600	Enhancers	Brain Angular Gyrus	brain
32	chr3:25198200-25198600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr3:25198200-25198600	Enhancers	Fetal Heart	heart
34	chr3:25198200-25198800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:25198200-25199400	Enhancers	A549	lung
36	chr3:25198200-25200600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr3:25198400-25198800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:25198400-25198800	Enhancers	HSMMtube	muscle
39	chr3:25198400-25199800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr3:25198400-25200000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr3:25198400-25200600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:25198400-25200600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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