Variant report

Variant	rs72973043
Chromosome Location	chr3:137823357-137823358
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs57127459	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57342874	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59699263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72973018	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72973021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72973027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72973035	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72973039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72973050	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72973053	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72973054	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991149	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991151	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991154	0.86[AFR][1000 genomes]
rs72991157	0.86[AFR][1000 genomes]
rs72991163	0.89[AFR][1000 genomes]
rs72991169	0.89[AFR][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	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	esv2757890	chr3:137611789-137933835	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2759180	chr3:137611789-137933835	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2751978	chr3:137715302-137890750	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1007857	chr3:137767454-137843106	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137781000-137833200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:137801600-137833200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:137803200-137833200	Weak transcription	Placenta	Placenta
4	chr3:137805200-137823400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:137805200-137823400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:137805600-137829800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:137808800-137830800	Weak transcription	NHEK	skin
8	chr3:137811800-137833400	Weak transcription	Fetal Brain Male	brain
9	chr3:137812600-137833200	Weak transcription	Brain Angular Gyrus	brain
10	chr3:137812800-137831400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:137812800-137832000	Weak transcription	Brain Germinal Matrix	brain
12	chr3:137813600-137823600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:137813800-137824000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:137813800-137833000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:137814000-137831200	Weak transcription	Fetal Kidney	kidney
16	chr3:137814000-137832200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr3:137814000-137833000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:137814000-137833600	Weak transcription	Liver	Liver
19	chr3:137814200-137829400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:137814200-137832400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:137814200-137833200	Weak transcription	HUVEC	blood vessel
22	chr3:137815800-137823600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:137816800-137831800	Weak transcription	NHDF-Ad	bronchial
24	chr3:137816800-137833000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:137817600-137823400	Strong transcription	Fetal Muscle Leg	muscle
26	chr3:137818400-137823400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:137818600-137823400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:137818600-137823600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr3:137818800-137823400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:137818800-137823400	Strong transcription	Fetal Stomach	stomach
31	chr3:137818800-137831400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr3:137819000-137823800	Strong transcription	Osteobl	bone
33	chr3:137819000-137831200	Weak transcription	Hela-S3	cervix
34	chr3:137819000-137832000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr3:137819200-137832000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr3:137819400-137823400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:137819400-137823600	Strong transcription	HSMM	muscle
38	chr3:137819400-137832200	Weak transcription	Stomach Mucosa	stomach
39	chr3:137819600-137823400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:137819600-137823400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:137820000-137832200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr3:137820400-137823400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr3:137820600-137823600	Strong transcription	Right Ventricle	heart
44	chr3:137821000-137832000	Weak transcription	Colon Smooth Muscle	Colon
45	chr3:137821000-137833200	Weak transcription	Fetal Intestine Small	intestine
46	chr3:137821600-137833000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr3:137822000-137823600	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr3:137822200-137823600	Strong transcription	Brain Hippocampus Middle	brain
49	chr3:137822200-137832400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr3:137822400-137832000	Weak transcription	H1 Cell Line	embryonic stem cell

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