Variant report

Variant	rs59699263
Chromosome Location	chr3:137814073-137814074
allele	C/T
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]
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]
rs72973043	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:97 , 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	chr3:137783200-137821200	Weak transcription	Colonic Mucosa	Colon
3	chr3:137792000-137820600	Weak transcription	Esophagus	oesophagus
4	chr3:137792400-137818200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:137801600-137820600	Weak transcription	Spleen	Spleen
6	chr3:137801600-137833200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:137801800-137815200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr3:137802200-137818200	Weak transcription	Hela-S3	cervix
9	chr3:137802400-137823200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr3:137802600-137822200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr3:137803200-137815600	Weak transcription	Brain Substantia Nigra	brain
12	chr3:137803200-137833200	Weak transcription	Placenta	Placenta
13	chr3:137803400-137820200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:137803400-137822400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr3:137803600-137816200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr3:137805200-137823400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:137805200-137823400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:137805600-137829800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr3:137805800-137816400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:137805800-137816400	Weak transcription	Gastric	stomach
21	chr3:137805800-137819000	Weak transcription	Colon Smooth Muscle	Colon
22	chr3:137805800-137820600	Weak transcription	Fetal Intestine Small	intestine
23	chr3:137805800-137822000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr3:137807000-137821600	Weak transcription	Brain Anterior Caudate	brain
25	chr3:137807000-137822200	Weak transcription	Brain Hippocampus Middle	brain
26	chr3:137807400-137820600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:137807400-137820600	Weak transcription	Right Ventricle	heart
28	chr3:137807600-137818600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr3:137807600-137822000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:137807800-137818800	Weak transcription	Pancreas	Pancrea
31	chr3:137807800-137819600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:137808000-137821200	Weak transcription	HSMMtube	muscle
33	chr3:137808800-137819600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:137808800-137830800	Weak transcription	NHEK	skin
35	chr3:137809200-137814200	Strong transcription	HSMM	muscle
36	chr3:137810000-137814800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:137811000-137814200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:137811000-137814200	Strong transcription	Left Ventricle	heart
39	chr3:137811000-137817400	Strong transcription	Fetal Lung	lung
40	chr3:137811400-137814200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:137811600-137814200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:137811600-137814200	Strong transcription	Stomach Smooth Muscle	stomach
43	chr3:137811600-137815400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:137811600-137817000	Strong transcription	Osteobl	bone
45	chr3:137811600-137817800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:137811800-137833400	Weak transcription	Fetal Brain Male	brain
47	chr3:137812000-137817400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr3:137812400-137818400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr3:137812600-137814200	Strong transcription	NHDF-Ad	bronchial
50	chr3:137812600-137818400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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