Variant report

Variant	rs62272407
Chromosome Location	chr3:145937536-145937537
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:145937350..145938198-chr3:146044684..146045576,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10460850	0.92[ASN][1000 genomes]
rs10935609	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11926040	0.93[ASN][1000 genomes]
rs12488776	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12629875	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13073184	0.84[ASN][1000 genomes]
rs13079270	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13086396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13086427	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1398527	0.91[ASN][1000 genomes]
rs1512894	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036979	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2175669	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2867080	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34773907	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35187466	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35499991	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35616919	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3804650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804652	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804653	0.97[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3828377	0.97[AFR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3828378	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3828379	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3920230	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61207913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6808115	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[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	chr3:145907000-145938600	Weak transcription	Fetal Intestine Small	intestine
2	chr3:145907600-145939200	Weak transcription	Brain Anterior Caudate	brain
3	chr3:145909600-145939200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:145910400-145940000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:145913800-145939200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:145914600-145940200	Weak transcription	Gastric	stomach
7	chr3:145914800-145940200	Weak transcription	Psoas Muscle	Psoas
8	chr3:145914800-145940400	Weak transcription	Spleen	Spleen
9	chr3:145917800-145940400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:145918000-145940400	Weak transcription	Pancreas	Pancrea
11	chr3:145918400-145940400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:145920600-145940600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr3:145921600-145940200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:145922600-145940400	Weak transcription	Lung	lung
15	chr3:145924400-145939200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr3:145924400-145944000	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:145924400-145945200	Weak transcription	HSMMtube	muscle
18	chr3:145924600-145939000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr3:145924600-145940200	Weak transcription	Aorta	Aorta
20	chr3:145925000-145945600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:145925400-145952800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr3:145925600-145950800	Weak transcription	Fetal Kidney	kidney
23	chr3:145927600-145938400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:145932600-145943800	Weak transcription	Brain Hippocampus Middle	brain
25	chr3:145932800-145941000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:145934000-145940400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr3:145934200-145939000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:145934600-145940200	Weak transcription	Fetal Stomach	stomach
29	chr3:145934600-145952200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:145935200-145940400	Weak transcription	Fetal Intestine Large	intestine
31	chr3:145935200-145940400	Weak transcription	Left Ventricle	heart
32	chr3:145935400-145938200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:145935400-145939200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:145935600-145938000	Weak transcription	Liver	Liver
35	chr3:145935600-145938800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:145935600-145939000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:145935600-145939200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr3:145935600-145939400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr3:145935600-145940400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr3:145935800-145937600	Weak transcription	Ovary	ovary
41	chr3:145935800-145938200	Weak transcription	Adipose Nuclei	Adipose
42	chr3:145935800-145938400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr3:145935800-145939200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr3:145935800-145939200	Weak transcription	NHDF-Ad	bronchial
45	chr3:145935800-145939200	Weak transcription	Osteobl	bone
46	chr3:145935800-145940000	Weak transcription	NHLF	lung
47	chr3:145936000-145945200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr3:145936200-145938000	Weak transcription	Fetal Lung	lung
49	chr3:145936200-145940400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr3:145937000-145938000	Enhancers	HepG2	liver

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