Variant report

Variant	rs10462517
Chromosome Location	chr5:74674975-74674976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74674905..74677858-chr5:74706669..74708493,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10038723	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10043621	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10044053	0.86[EUR][1000 genomes]
rs10053643	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10075139	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10434644	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10473972	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10474434	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10474436	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1051795	0.83[EUR][1000 genomes]
rs10942739	0.89[ASN][1000 genomes]
rs11957913	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12234032	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13354407	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17238484	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28609217	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2878418	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28851300	0.80[EUR][1000 genomes]
rs3213801	0.83[EUR][1000 genomes]
rs3761742	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3761743	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846665	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3846666	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3931914	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4385188	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4440336	0.90[ASN][1000 genomes]
rs4703670	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4704214	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704224	0.80[EUR][1000 genomes]
rs4704228	0.84[EUR][1000 genomes]
rs57149337	0.85[ASN][1000 genomes]
rs57312935	0.87[EUR][1000 genomes]
rs5744533	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5744555	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5744575	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5744598	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5744601	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5744621	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59506842	0.86[EUR][1000 genomes]
rs61430233	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6453134	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6863398	0.84[ASN][1000 genomes]
rs6872314	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6874781	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6891949	0.84[ASN][1000 genomes]
rs698912	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73120833	0.85[ASN][1000 genomes]
rs7356637	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7445415	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7700468	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7701925	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7709282	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7732854	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7737959	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9885386	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882192	chr5:74641707-74707762	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74656400-74676800	Weak transcription	Fetal Brain Male	brain
2	chr5:74656400-74687200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:74656400-74725600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:74656600-74675600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:74656600-74675800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:74656600-74675800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr5:74656600-74676800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr5:74656600-74677200	Weak transcription	Aorta	Aorta
9	chr5:74656600-74694800	Weak transcription	Brain Angular Gyrus	brain
10	chr5:74656800-74676200	Weak transcription	Colonic Mucosa	Colon
11	chr5:74656800-74731400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:74657800-74708000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:74659600-74675800	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:74659800-74677000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:74659800-74684800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr5:74659800-74720600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:74660000-74722800	Weak transcription	Fetal Heart	heart
18	chr5:74660200-74707800	Weak transcription	Stomach Mucosa	stomach
19	chr5:74661800-74683600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:74663200-74676800	Weak transcription	K562	blood
21	chr5:74664600-74676800	Weak transcription	NHLF	lung
22	chr5:74664600-74677000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:74664800-74677000	Weak transcription	HUVEC	blood vessel
24	chr5:74665000-74703000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr5:74667000-74723200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr5:74667200-74688200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:74667200-74693600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:74667600-74687600	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr5:74668000-74688400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:74668200-74686200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:74668400-74685600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:74668600-74677200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:74668600-74677600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:74668600-74681600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr5:74668600-74686800	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr5:74668600-74687200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:74668600-74687600	Strong transcription	Adipose Nuclei	Adipose
38	chr5:74668600-74687600	Strong transcription	Fetal Lung	lung
39	chr5:74668600-74691200	Strong transcription	Liver	Liver
40	chr5:74668800-74685800	Strong transcription	Primary B cells from peripheral blood	blood
41	chr5:74669400-74678600	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr5:74669600-74681400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr5:74670000-74676800	Weak transcription	Colon Smooth Muscle	Colon
44	chr5:74670000-74678000	Strong transcription	Stomach Smooth Muscle	stomach
45	chr5:74670800-74676000	Weak transcription	NHDF-Ad	bronchial
46	chr5:74670800-74709400	Weak transcription	Pancreas	Pancrea
47	chr5:74670800-74720600	Weak transcription	Right Ventricle	heart
48	chr5:74670800-74731400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:74671000-74675200	Weak transcription	HSMMtube	muscle
50	chr5:74671000-74686000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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