Variant report

Variant	rs1979005
Chromosome Location	chr5:80149702-80149703
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1008119	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10942930	0.84[ASN][1000 genomes]
rs10942931	0.93[ASN][1000 genomes]
rs10942932	0.84[ASN][1000 genomes]
rs12521082	0.84[ASN][1000 genomes]
rs12522063	0.93[ASN][1000 genomes]
rs1363365	0.84[ASN][1000 genomes]
rs1428030	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap]
rs16878204	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1805355	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap]
rs2112416	0.84[ASN][1000 genomes]
rs2195291	0.82[CEU][hapmap]
rs3776969	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap]
rs3797877	1.00[CEU][hapmap];0.83[JPT][hapmap]
rs3797885	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap]
rs3797886	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap]
rs3797896	0.85[ASN][1000 genomes]
rs3797897	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4703818	0.85[ASN][1000 genomes]
rs4703819	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4704683	0.84[ASN][1000 genomes]
rs4704685	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4704686	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704687	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55928960	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56382955	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs57067128	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58508689	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6151628	0.82[CEU][hapmap]
rs6151639	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap]
rs6151826	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs6151865	0.87[ASN][1000 genomes]
rs6151892	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6151901	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6151902	0.87[EUR][1000 genomes]
rs6151909	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6864713	0.92[ASN][1000 genomes]
rs6869680	0.90[ASN][1000 genomes]
rs6879843	0.85[ASN][1000 genomes]
rs6881898	0.85[ASN][1000 genomes]
rs6885935	0.93[ASN][1000 genomes]
rs6894961	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72765588	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72765590	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72765599	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767343	0.91[ASN][1000 genomes]
rs73125417	0.85[ASN][1000 genomes]
rs73137557	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7721000	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv882231	chr5:79984714-80187929	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1016100	chr5:80023679-80254194	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80042800-80173400	Weak transcription	Right Ventricle	heart
2	chr5:80087800-80167400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:80091400-80181000	Weak transcription	Small Intestine	intestine
4	chr5:80125200-80151400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:80125200-80161600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr5:80137600-80152600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:80141200-80161000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:80141200-80178800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:80142000-80152600	Weak transcription	Brain Angular Gyrus	brain
10	chr5:80142400-80151200	Weak transcription	Ovary	ovary
11	chr5:80143000-80175400	Weak transcription	HMEC	breast
12	chr5:80143600-80151400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:80143800-80156600	Weak transcription	Osteobl	bone
14	chr5:80145400-80152600	Weak transcription	Fetal Kidney	kidney
15	chr5:80145600-80150600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr5:80145600-80150600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:80145600-80151000	Weak transcription	Fetal Intestine Large	intestine
18	chr5:80145600-80151200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:80145600-80151200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:80145600-80151400	Weak transcription	Lung	lung
21	chr5:80145600-80152600	Weak transcription	Fetal Lung	lung
22	chr5:80145600-80153800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr5:80145600-80157000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:80145600-80172800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr5:80145600-80175600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr5:80145600-80181000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:80145800-80150400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr5:80145800-80167400	Weak transcription	Placenta	Placenta
29	chr5:80145800-80173400	Weak transcription	Colonic Mucosa	Colon
30	chr5:80146000-80150200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:80146000-80173400	Weak transcription	Esophagus	oesophagus
32	chr5:80146200-80150000	Weak transcription	Liver	Liver
33	chr5:80146200-80151200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr5:80146400-80150400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr5:80146400-80150400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr5:80146400-80150400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:80146400-80151200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:80146400-80151200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr5:80146400-80151400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:80146400-80151400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:80146400-80151400	Weak transcription	Pancreas	Pancrea
42	chr5:80146400-80152400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr5:80146400-80162600	Weak transcription	Fetal Stomach	stomach
44	chr5:80146400-80162800	Weak transcription	Gastric	stomach
45	chr5:80146400-80167200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:80146400-80167200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:80146400-80170600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:80146400-80173400	Weak transcription	Brain Substantia Nigra	brain
49	chr5:80146600-80150600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr5:80146600-80150600	Weak transcription	Left Ventricle	heart

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