Variant report

Variant	rs73120822
Chromosome Location	chr5:74783490-74783491
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11948350	0.89[EUR][1000 genomes]
rs11948442	0.89[EUR][1000 genomes]
rs11952534	0.89[EUR][1000 genomes]
rs11953173	0.94[EUR][1000 genomes]
rs11953883	0.89[EUR][1000 genomes]
rs11954651	0.88[EUR][1000 genomes]
rs11955568	0.89[EUR][1000 genomes]
rs11955819	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11956111	0.89[EUR][1000 genomes]
rs11956112	0.89[EUR][1000 genomes]
rs11956755	0.89[EUR][1000 genomes]
rs11960741	0.89[EUR][1000 genomes]
rs11960747	0.89[EUR][1000 genomes]
rs11960771	0.89[EUR][1000 genomes]
rs1422441	0.89[EUR][1000 genomes]
rs1489	0.94[EUR][1000 genomes]
rs16872523	0.88[EUR][1000 genomes]
rs16872590	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16872661	0.94[EUR][1000 genomes]
rs16872677	0.89[EUR][1000 genomes]
rs16872683	0.89[EUR][1000 genomes]
rs16872693	0.89[EUR][1000 genomes]
rs17238540	0.88[EUR][1000 genomes]
rs1991450	0.89[EUR][1000 genomes]
rs2112348	0.89[EUR][1000 genomes]
rs2112349	0.84[EUR][1000 genomes]
rs2112350	0.89[EUR][1000 genomes]
rs4640773	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56832737	0.89[EUR][1000 genomes]
rs57414757	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744617	0.94[EUR][1000 genomes]
rs5744720	0.94[EUR][1000 genomes]
rs57531042	0.89[EUR][1000 genomes]
rs57670471	0.89[EUR][1000 genomes]
rs58216239	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59427628	1.00[EUR][1000 genomes]
rs60385047	0.89[EUR][1000 genomes]
rs60609097	0.89[EUR][1000 genomes]
rs60630022	0.88[EUR][1000 genomes]
rs61165632	0.88[EUR][1000 genomes]
rs61516153	0.94[EUR][1000 genomes]
rs6865606	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6866607	0.88[EUR][1000 genomes]
rs6870090	0.89[EUR][1000 genomes]
rs6882452	0.89[EUR][1000 genomes]
rs6894068	0.89[EUR][1000 genomes]
rs6895148	0.89[EUR][1000 genomes]
rs6898308	0.88[EUR][1000 genomes]
rs73118846	0.88[EUR][1000 genomes]
rs73118860	0.88[EUR][1000 genomes]
rs73118876	0.81[EUR][1000 genomes]
rs73118877	0.81[EUR][1000 genomes]
rs73118880	0.81[EUR][1000 genomes]
rs73120804	1.00[EUR][1000 genomes]
rs73120805	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120807	1.00[EUR][1000 genomes]
rs73120811	1.00[EUR][1000 genomes]
rs73120824	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120848	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73120849	0.94[EUR][1000 genomes]
rs73120850	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73122744	0.94[EUR][1000 genomes]
rs73122755	0.94[EUR][1000 genomes]
rs73122770	0.89[EUR][1000 genomes]
rs73122771	0.89[EUR][1000 genomes]
rs73122772	0.89[EUR][1000 genomes]
rs73124734	0.89[EUR][1000 genomes]
rs73124747	0.89[EUR][1000 genomes]
rs73124750	0.89[EUR][1000 genomes]
rs7722940	0.88[EUR][1000 genomes]
rs7724771	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv882198	chr5:74736065-74896798	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv882200	chr5:74781439-74830808	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74732000-74787400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:74742400-74794200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:74760400-74792200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:74762200-74805800	Weak transcription	Pancreas	Pancrea
5	chr5:74763200-74787400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:74764800-74785800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:74764800-74786200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:74764800-74798600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:74765200-74795400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:74765200-74804600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:74765800-74786800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:74765800-74787200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:74766200-74785600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:74766600-74785600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:74767400-74787000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr5:74769200-74794000	Weak transcription	Fetal Thymus	thymus
17	chr5:74769400-74794800	Weak transcription	Stomach Mucosa	stomach
18	chr5:74770400-74805200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:74771400-74785600	Weak transcription	Liver	Liver
20	chr5:74771800-74794200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:74773200-74787800	Weak transcription	Ovary	ovary
22	chr5:74775000-74785800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:74775200-74804000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr5:74777000-74785800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr5:74777000-74787000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr5:74777000-74794200	Weak transcription	Dnd41	blood
27	chr5:74777200-74785800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr5:74777200-74787400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr5:74777400-74797800	Weak transcription	Colonic Mucosa	Colon
30	chr5:74778600-74785800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr5:74778600-74785800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:74778600-74785800	Weak transcription	Left Ventricle	heart
33	chr5:74778600-74786000	Weak transcription	Fetal Stomach	stomach
34	chr5:74778600-74787600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr5:74778600-74787600	Weak transcription	Lung	lung
36	chr5:74778600-74794200	Weak transcription	Right Ventricle	heart
37	chr5:74778600-74796800	Weak transcription	Esophagus	oesophagus
38	chr5:74778600-74806400	Weak transcription	Gastric	stomach
39	chr5:74778800-74785800	Weak transcription	Aorta	Aorta
40	chr5:74778800-74805400	Weak transcription	HMEC	breast
41	chr5:74779000-74786600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr5:74779000-74804200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr5:74781600-74784000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:74781800-74785800	Weak transcription	Thymus	Thymus
45	chr5:74782000-74786800	Weak transcription	Fetal Kidney	kidney
46	chr5:74782200-74785200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:74782200-74795400	Weak transcription	HSMM	muscle
48	chr5:74782600-74805400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr5:74782800-74783600	ZNF genes & repeats	Primary T cells from cord blood	blood
50	chr5:74783000-74785800	Weak transcription	Primary B cells from cord blood	blood

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