Variant report

Variant	rs57414757
Chromosome Location	chr5:74765294-74765295
allele	C/T
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:72)

rs_ID	r²[population]
rs11948350	0.89[EUR][1000 genomes]
rs11948442	0.89[EUR][1000 genomes]
rs11952534	0.89[EUR][1000 genomes]
rs11953173	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11953883	0.89[EUR][1000 genomes]
rs11954651	0.88[EUR][1000 genomes]
rs11955568	0.89[EUR][1000 genomes]
rs11955819	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	0.94[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56832737	0.89[EUR][1000 genomes]
rs5744617	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5744720	0.94[EUR][1000 genomes]
rs57531042	0.89[EUR][1000 genomes]
rs57670471	0.89[EUR][1000 genomes]
rs58216239	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59427628	0.87[AMR][1000 genomes];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]
rs61529616	0.87[EUR][1000 genomes]
rs6865606	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	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120805	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120807	1.00[EUR][1000 genomes]
rs73120811	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120822	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120824	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120848	0.94[EUR][1000 genomes]
rs73120849	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73120850	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	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7724771	0.89[EUR][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	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

No data

Chromatin state (count:42 , 50 per page) page: 1

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	chr5:74748600-74770400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:74751600-74769000	Weak transcription	Liver	Liver
5	chr5:74760400-74776800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:74760400-74792200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:74762200-74805800	Weak transcription	Pancreas	Pancrea
8	chr5:74762600-74768600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:74762600-74770200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:74762600-74770800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:74762600-74778000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:74762800-74770200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:74762800-74771000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:74763200-74769000	Weak transcription	Stomach Mucosa	stomach
15	chr5:74763200-74787400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:74763600-74766800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:74763800-74766800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
18	chr5:74763800-74767200	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr5:74763800-74767200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:74764000-74766200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:74764000-74766600	ZNF genes & repeats	Dnd41	blood
22	chr5:74764000-74767200	ZNF genes & repeats	Primary B cells from cord blood	blood
23	chr5:74764200-74765400	ZNF genes & repeats	A549	lung
24	chr5:74764200-74766600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:74764400-74765400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
26	chr5:74764600-74766600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr5:74764600-74766600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
28	chr5:74764600-74769000	Weak transcription	Fetal Stomach	stomach
29	chr5:74764600-74776600	Weak transcription	Gastric	stomach
30	chr5:74764600-74776600	Weak transcription	Psoas Muscle	Psoas
31	chr5:74764800-74766400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr5:74764800-74768600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:74764800-74770200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:74764800-74770800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:74764800-74773000	Weak transcription	Thymus	Thymus
36	chr5:74764800-74778000	Weak transcription	Aorta	Aorta
37	chr5:74764800-74778000	Weak transcription	Left Ventricle	heart
38	chr5:74764800-74785800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:74764800-74786200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:74764800-74798600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:74765200-74795400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:74765200-74804600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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