Variant report

Variant	rs1624314
Chromosome Location	chr3:138084976-138084977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:138084125..138087091-chr3:138095064..138097156,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1199328	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1199333	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1199334	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1199335	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1199336	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1199346	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1199347	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1201763	1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1209710	0.80[AMR][1000 genomes]
rs1212469	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13082471	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1308362	0.94[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs166195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs166196	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1679149	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1720825	0.89[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs183151	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs194146	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs253662	0.94[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs253664	0.89[CEU][hapmap]
rs253666	0.80[AMR][1000 genomes]
rs40005	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs40412	1.00[ASN][1000 genomes]
rs42761	1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4346503	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4437085	1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4678416	0.95[EUR][1000 genomes]
rs6809480	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs774373	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs799328	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs811332	1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv528349	chr3:138025396-138132393	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1796956	chr3:138051423-138122781	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1848610	chr3:138051423-138133412	Bivalent Enhancer Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138068800-138093200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:138069200-138088200	Weak transcription	Fetal Lung	lung
3	chr3:138070000-138096600	Weak transcription	Fetal Brain Male	brain
4	chr3:138070200-138086400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr3:138071000-138085600	Weak transcription	Brain Germinal Matrix	brain
6	chr3:138071200-138096600	Weak transcription	Aorta	Aorta
7	chr3:138071600-138086600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:138074200-138095600	Enhancers	Fetal Heart	heart
9	chr3:138074800-138089800	Enhancers	Brain Cingulate Gyrus	brain
10	chr3:138075000-138086400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:138075000-138090000	Enhancers	Brain Anterior Caudate	brain
12	chr3:138075400-138087400	Enhancers	Right Atrium	heart
13	chr3:138075600-138089400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:138076000-138086400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:138076000-138108200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr3:138077800-138091600	Enhancers	Right Ventricle	heart
17	chr3:138078600-138086400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr3:138078600-138100600	Weak transcription	NH-A	brain
19	chr3:138078800-138086600	Strong transcription	Fetal Stomach	stomach
20	chr3:138079000-138085400	Weak transcription	Colon Smooth Muscle	Colon
21	chr3:138079600-138095600	Weak transcription	Fetal Brain Female	brain
22	chr3:138079800-138086600	Weak transcription	Osteobl	bone
23	chr3:138080200-138086200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr3:138080200-138096400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:138080600-138092000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:138081000-138088400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:138081200-138087000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr3:138081600-138091000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:138081600-138108200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:138082200-138087400	Enhancers	Ovary	ovary
31	chr3:138082200-138088200	Genic enhancers	HSMMtube	muscle
32	chr3:138082400-138088800	Enhancers	Spleen	Spleen
33	chr3:138082400-138089400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr3:138082800-138088400	Genic enhancers	HSMM	muscle
35	chr3:138082800-138089400	Enhancers	Brain Hippocampus Middle	brain
36	chr3:138083000-138086400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr3:138083000-138100400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr3:138083200-138085000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr3:138083200-138085600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:138083200-138091800	Enhancers	Adipose Nuclei	Adipose
41	chr3:138083200-138091800	Enhancers	Left Ventricle	heart
42	chr3:138083200-138100600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr3:138083400-138087200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr3:138083400-138090400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:138083600-138086600	Weak transcription	Brain Angular Gyrus	brain
46	chr3:138083800-138085400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr3:138083800-138086400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr3:138083800-138089400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr3:138084000-138085000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:138084200-138087200	Enhancers	Psoas Muscle	Psoas

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