Variant report

Variant	rs6794565
Chromosome Location	chr3:145926220-145926221
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11916269	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13062557	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13063066	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13064230	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13071899	0.92[ASN][1000 genomes]
rs13072399	0.92[ASN][1000 genomes]
rs13073749	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13082942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13085381	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13092543	0.92[ASN][1000 genomes]
rs13097291	0.92[ASN][1000 genomes]
rs1398124	0.92[ASN][1000 genomes]
rs2175666	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2175667	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34100380	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34286112	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34287919	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34363776	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34370775	0.92[ASN][1000 genomes]
rs34522376	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34839095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34901415	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34965829	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35054584	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35110814	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35231667	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35366505	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35403397	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35466414	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35632120	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35655354	0.92[ASN][1000 genomes]
rs35658240	0.92[ASN][1000 genomes]
rs35723694	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35969224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3828380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57375558	0.96[AFR][1000 genomes]
rs59405000	0.96[AFR][1000 genomes]
rs60949073	0.96[AFR][1000 genomes]
rs6766764	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6768389	0.96[AFR][1000 genomes]
rs6782950	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71300385	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71300386	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71300388	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71300389	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71300390	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71300391	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73865353	0.96[AFR][1000 genomes]
rs73865355	0.96[AFR][1000 genomes]
rs73865357	0.96[AFR][1000 genomes]
rs73865364	0.96[AFR][1000 genomes]
rs73865365	0.96[AFR][1000 genomes]
rs73865368	0.96[AFR][1000 genomes]
rs73865369	0.96[AFR][1000 genomes]
rs73865370	0.96[AFR][1000 genomes]
rs73865378	0.96[AFR][1000 genomes]
rs73865384	0.96[AFR][1000 genomes]
rs73865386	0.96[AFR][1000 genomes]
rs73865392	0.88[AFR][1000 genomes]
rs73867526	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7614839	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7642484	0.92[ASN][1000 genomes]
rs7652376	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012485	chr3:145861750-145947125	Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv536758	chr3:145861750-145947125	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised 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	12 gene(s)	inside rSNPs	diseases
3	nsv877614	chr3:145903426-146025896	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv877615	chr3:145910430-145988231	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv877616	chr3:145921954-145983688	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145897000-145933600	Weak transcription	Fetal Stomach	stomach
2	chr3:145903000-145934800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr3:145905000-145933600	Weak transcription	NHLF	lung
4	chr3:145907000-145938600	Weak transcription	Fetal Intestine Small	intestine
5	chr3:145907600-145939200	Weak transcription	Brain Anterior Caudate	brain
6	chr3:145908200-145936400	Weak transcription	A549	lung
7	chr3:145909600-145939200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:145910400-145932400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:145910400-145940000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:145913800-145939200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:145914200-145937000	Weak transcription	Placenta	Placenta
12	chr3:145914600-145940200	Weak transcription	Gastric	stomach
13	chr3:145914800-145940200	Weak transcription	Psoas Muscle	Psoas
14	chr3:145914800-145940400	Weak transcription	Spleen	Spleen
15	chr3:145917800-145940400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr3:145918000-145940400	Weak transcription	Pancreas	Pancrea
17	chr3:145918400-145940400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:145919000-145934800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:145920600-145940600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr3:145921600-145940200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:145922000-145934800	Weak transcription	Left Ventricle	heart
22	chr3:145922200-145935000	Weak transcription	NHDF-Ad	bronchial
23	chr3:145922600-145933400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:145922600-145940400	Weak transcription	Lung	lung
25	chr3:145923200-145927600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:145924400-145939200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr3:145924400-145944000	Weak transcription	Colon Smooth Muscle	Colon
28	chr3:145924400-145945200	Weak transcription	HSMMtube	muscle
29	chr3:145924600-145926800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr3:145924600-145927000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:145924600-145927400	Weak transcription	Osteobl	bone
32	chr3:145924600-145934400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr3:145924600-145937200	Weak transcription	Fetal Muscle Leg	muscle
34	chr3:145924600-145939000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr3:145924600-145940200	Weak transcription	Aorta	Aorta
36	chr3:145924800-145932400	Weak transcription	Fetal Lung	lung
37	chr3:145924800-145933400	Weak transcription	Fetal Intestine Large	intestine
38	chr3:145924800-145935000	Weak transcription	HepG2	liver
39	chr3:145925000-145945600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr3:145925200-145929200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:145925200-145933200	Weak transcription	Adipose Nuclei	Adipose
42	chr3:145925200-145933400	Weak transcription	Ovary	ovary
43	chr3:145925400-145930200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr3:145925400-145952800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr3:145925600-145927200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:145925600-145930400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:145925600-145933600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:145925600-145934600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr3:145925600-145950800	Weak transcription	Fetal Kidney	kidney
50	chr3:145925800-145932000	Weak transcription	Liver	Liver

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