Variant report

Variant	rs782983
Chromosome Location	chr5:43175194-43175195
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1050336	1.00[AMR][1000 genomes]
rs1690989	1.00[AMR][1000 genomes]
rs1690996	1.00[AMR][1000 genomes]
rs2444778	1.00[AMR][1000 genomes]
rs2453311	1.00[AMR][1000 genomes]
rs4549536	1.00[AMR][1000 genomes]
rs473870	1.00[AMR][1000 genomes]
rs481347	1.00[AMR][1000 genomes]
rs482224	1.00[AMR][1000 genomes]
rs4866731	1.00[AMR][1000 genomes]
rs500322	1.00[AMR][1000 genomes]
rs500993	1.00[AMR][1000 genomes]
rs516939	1.00[AMR][1000 genomes]
rs534655	1.00[AMR][1000 genomes]
rs549343	1.00[AMR][1000 genomes]
rs550847	1.00[AMR][1000 genomes]
rs558935	1.00[AMR][1000 genomes]
rs566582	1.00[AMR][1000 genomes]
rs623083	1.00[AMR][1000 genomes]
rs6414901	1.00[AMR][1000 genomes]
rs661413	1.00[AMR][1000 genomes]
rs665790	1.00[AMR][1000 genomes]
rs666663	1.00[AMR][1000 genomes]
rs6863940	1.00[AMR][1000 genomes]
rs6888146	1.00[AMR][1000 genomes]
rs693466	1.00[AMR][1000 genomes]
rs7712183	1.00[AMR][1000 genomes]
rs7727600	1.00[AMR][1000 genomes]
rs7730565	1.00[AMR][1000 genomes]
rs782973	1.00[AMR][1000 genomes]
rs782981	1.00[AMR][1000 genomes]
rs782982	1.00[AMR][1000 genomes]
rs782986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs782993	1.00[AFR][1000 genomes]
rs803501	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43124000-43183000	Weak transcription	Small Intestine	intestine
2	chr5:43127600-43178000	Strong transcription	Dnd41	blood
3	chr5:43143400-43178200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:43155200-43177200	Weak transcription	Fetal Heart	heart
5	chr5:43155800-43176600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:43156000-43178200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:43156600-43191200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:43156800-43177600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:43157000-43178400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:43161400-43176800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:43162000-43176600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:43162000-43191600	Weak transcription	Fetal Brain Male	brain
13	chr5:43163400-43175800	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr5:43163800-43191800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:43164400-43191200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:43165000-43191200	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:43166800-43175400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:43167600-43175800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:43169200-43179200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr5:43170000-43178000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:43170200-43175400	Strong transcription	Fetal Brain Female	brain
22	chr5:43170200-43175400	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr5:43170200-43178000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:43170600-43178000	Strong transcription	Primary T cells from cord blood	blood
25	chr5:43171000-43175200	Strong transcription	Thymus	Thymus
26	chr5:43171200-43175200	Strong transcription	Primary hematopoietic stem cells	blood
27	chr5:43171200-43175400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr5:43171200-43176000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr5:43171200-43178000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:43171200-43178000	Strong transcription	Fetal Thymus	thymus
31	chr5:43171400-43175600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr5:43171400-43178000	Strong transcription	Hela-S3	cervix
33	chr5:43171400-43178200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:43171400-43178200	Strong transcription	Fetal Muscle Leg	muscle
35	chr5:43172000-43176000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:43172200-43175200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr5:43172200-43177800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr5:43172200-43178400	Strong transcription	Liver	Liver
39	chr5:43172200-43178800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:43172800-43175200	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr5:43172800-43175200	Strong transcription	Osteobl	bone
42	chr5:43172800-43175400	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr5:43172800-43175400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:43172800-43175400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:43172800-43175400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:43172800-43175400	Strong transcription	HSMM	muscle
47	chr5:43172800-43175600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:43172800-43175600	Strong transcription	K562	blood
49	chr5:43172800-43176000	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr5:43172800-43176000	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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