Variant report

Variant	rs6449535
Chromosome Location	chr5:60761585-60761586
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10041978	1.00[ASN][1000 genomes]
rs1045352	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10514910	0.87[CHB][hapmap]
rs10939900	0.80[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs10939901	0.86[ASN][1000 genomes]
rs10939902	0.87[ASN][1000 genomes]
rs10939903	1.00[ASN][1000 genomes]
rs10939905	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11742658	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11743711	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11747564	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11749200	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11750589	0.85[ASN][1000 genomes]
rs11950318	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11952146	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11954430	0.94[ASN][1000 genomes]
rs12187112	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12188627	0.82[ASN][1000 genomes]
rs12188685	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12188710	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12189001	0.86[ASN][1000 genomes]
rs12518479	0.86[ASN][1000 genomes]
rs12519658	0.81[CHB][hapmap]
rs12520628	0.80[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs12522647	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13156100	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13157657	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13157831	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13158413	0.89[ASN][1000 genomes]
rs13158675	0.86[ASN][1000 genomes]
rs13159018	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13159166	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13160801	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13162358	0.86[ASN][1000 genomes]
rs13162694	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13163970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13166934	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13169711	0.86[ASN][1000 genomes]
rs13170135	0.84[ASN][1000 genomes]
rs13170262	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13171497	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13171757	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13172080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13172084	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13178686	0.86[ASN][1000 genomes]
rs13179091	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13179617	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13181015	0.80[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs13185068	0.92[ASN][1000 genomes]
rs13185783	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13186194	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13188685	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1348716	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1363892	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1374043	0.94[ASN][1000 genomes]
rs1445976	0.92[ASN][1000 genomes]
rs1445979	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1445980	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1445981	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1477355	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16892286	0.81[CHB][hapmap]
rs16892307	0.81[CHB][hapmap]
rs16892374	0.81[CHB][hapmap]
rs17424296	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1986252	0.94[ASN][1000 genomes]
rs2034239	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2053693	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2053694	0.92[ASN][1000 genomes]
rs2276987	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28610339	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34739794	0.84[ASN][1000 genomes]
rs35262187	0.86[ASN][1000 genomes]
rs4276369	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs4392578	0.86[ASN][1000 genomes]
rs4484384	0.86[ASN][1000 genomes]
rs4604142	0.80[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs55838118	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56035042	0.86[ASN][1000 genomes]
rs60529601	0.86[ASN][1000 genomes]
rs60886975	0.86[ASN][1000 genomes]
rs62368660	0.86[ASN][1000 genomes]
rs6449528	0.80[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs6449529	0.86[ASN][1000 genomes]
rs6449530	0.80[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs6449531	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6449532	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6449533	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66775554	0.92[ASN][1000 genomes]
rs6860608	0.80[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs6865624	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6873712	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6874264	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6874266	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6877610	0.80[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs6878927	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6879809	1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs6881765	0.81[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs6881799	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6882136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6885005	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6890351	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.87[JPT][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6894675	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6895046	0.94[ASN][1000 genomes]
rs6898746	0.91[ASN][1000 genomes]
rs7443602	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7700289	0.86[ASN][1000 genomes]
rs7701440	0.80[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs7709645	0.87[ASN][1000 genomes]
rs7714457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7714712	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7717082	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7719647	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7722810	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7724551	0.80[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs7727824	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7732234	0.90[ASN][1000 genomes]
rs7734879	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753894	chr5:60731458-60777345	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60744400-60767800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr5:60747000-60762800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:60747600-60770600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:60749000-60762200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:60755000-60762600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:60755600-60762600	Enhancers	Brain Substantia Nigra	brain
7	chr5:60757000-60761600	Enhancers	Brain Hippocampus Middle	brain
8	chr5:60757600-60771000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:60758000-60764000	Weak transcription	Fetal Intestine Small	intestine
10	chr5:60758000-60772800	Weak transcription	Fetal Intestine Large	intestine
11	chr5:60758200-60762200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:60758200-60762800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:60758200-60763200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:60759200-60761600	Enhancers	Ovary	ovary
15	chr5:60759400-60762400	Enhancers	Stomach Mucosa	stomach
16	chr5:60759400-60762800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr5:60759400-60773000	Weak transcription	Right Ventricle	heart
18	chr5:60759600-60761600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr5:60759600-60764600	Enhancers	Small Intestine	intestine
20	chr5:60759800-60762000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:60759800-60771400	Weak transcription	Fetal Heart	heart
22	chr5:60759800-60807400	Weak transcription	Fetal Stomach	stomach
23	chr5:60760200-60761600	Enhancers	Colonic Mucosa	Colon
24	chr5:60760200-60761600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr5:60760200-60764600	Enhancers	Liver	Liver
26	chr5:60760200-60764800	Enhancers	Adipose Nuclei	Adipose
27	chr5:60760400-60761600	Weak transcription	Fetal Brain Female	brain
28	chr5:60760400-60763400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:60760400-60763400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:60760400-60764800	Enhancers	Osteobl	bone
31	chr5:60760400-60765400	Enhancers	Brain Cingulate Gyrus	brain
32	chr5:60760400-60807800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr5:60760600-60762800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:60760600-60764000	Weak transcription	Primary T cells from cord blood	blood
35	chr5:60760600-60824800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:60760800-60761800	Weak transcription	HepG2	liver
37	chr5:60760800-60762200	Weak transcription	Brain Angular Gyrus	brain
38	chr5:60760800-60762800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr5:60760800-60762800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr5:60760800-60762800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:60760800-60763200	Enhancers	A549	lung
42	chr5:60760800-60763400	Weak transcription	Hela-S3	cervix
43	chr5:60760800-60763400	Weak transcription	HSMMtube	muscle
44	chr5:60760800-60763800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:60760800-60767000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr5:60760800-60773000	Weak transcription	Gastric	stomach
47	chr5:60760800-60821200	Weak transcription	Esophagus	oesophagus
48	chr5:60761000-60761600	Enhancers	HSMM	muscle
49	chr5:60761000-60761800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr5:60761000-60761800	Weak transcription	Fetal Kidney	kidney

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