Variant report

Variant	rs59744644
Chromosome Location	chr5:9053324-9053325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3026343	1.00[AMR][1000 genomes]
rs57592719	1.00[AMR][1000 genomes]
rs60880880	1.00[AMR][1000 genomes]
rs73049424	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881438	chr5:8728874-9695667	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv461944	chr5:8758041-9209831	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv597069	chr5:8758041-9209831	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1016937	chr5:8824417-9402871	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv537638	chr5:8824417-9402871	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
6	nsv918004	chr5:8824417-9402871	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv482764	chr5:8906261-9056262	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9036600-9057000	Weak transcription	Brain Substantia Nigra	brain
2	chr5:9038000-9054400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:9038400-9056200	Weak transcription	Fetal Kidney	kidney
4	chr5:9038400-9057600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:9038800-9063600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:9039200-9055000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:9040200-9064600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:9040400-9054400	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:9040800-9122000	Weak transcription	Colonic Mucosa	Colon
10	chr5:9042200-9066600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:9042600-9057000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:9042800-9057400	Weak transcription	Brain Angular Gyrus	brain
13	chr5:9042800-9057400	Weak transcription	Brain Anterior Caudate	brain
14	chr5:9043000-9054200	Weak transcription	Esophagus	oesophagus
15	chr5:9043200-9057000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr5:9044600-9053400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr5:9044600-9053600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:9044800-9055000	Weak transcription	Fetal Lung	lung
19	chr5:9044800-9057600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:9044800-9061400	Weak transcription	Aorta	Aorta
21	chr5:9044800-9065200	Weak transcription	Pancreas	Pancrea
22	chr5:9046000-9054400	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr5:9046600-9065400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:9047600-9054600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:9047800-9056200	Weak transcription	Brain Germinal Matrix	brain
26	chr5:9048000-9055000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:9048200-9054000	Strong transcription	Liver	Liver
28	chr5:9048400-9054000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr5:9048400-9054400	Strong transcription	Fetal Muscle Leg	muscle
30	chr5:9048400-9055000	Weak transcription	Osteobl	bone
31	chr5:9048600-9055200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:9048600-9055200	Weak transcription	HSMM	muscle
33	chr5:9048800-9054400	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr5:9048800-9054600	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr5:9048800-9055000	Weak transcription	NH-A	brain
36	chr5:9049000-9054200	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr5:9049200-9053400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:9049200-9053400	Weak transcription	NHLF	lung
39	chr5:9049200-9054200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:9049200-9054400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:9049200-9055200	Weak transcription	NHDF-Ad	bronchial
42	chr5:9049400-9054400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:9049600-9054000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:9049800-9055000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:9050000-9065200	Weak transcription	Right Ventricle	heart
46	chr5:9051000-9058600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:9051000-9065200	Weak transcription	Left Ventricle	heart
48	chr5:9051200-9055200	Weak transcription	Fetal Stomach	stomach
49	chr5:9051200-9057600	Weak transcription	Fetal Intestine Small	intestine
50	chr5:9051800-9065200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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