Variant report

Variant	rs11202571
Chromosome Location	chr10:89574554-89574555
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr10:89574517-89574714	K562	blood:	n/a	n/a

Variant related genes	Relation type
CFL1P1	TF binding region

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10082347	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1051441	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10887745	0.81[YRI][hapmap]
rs10887746	0.81[YRI][hapmap]
rs10887753	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11202531	0.80[AMR][1000 genomes]
rs11202536	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11202538	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11202553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11202557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11202563	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11202564	0.88[CEU][hapmap];0.81[AMR][1000 genomes]
rs11202565	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11202568	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11498630	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11812787	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11816798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11817759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11818430	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12247482	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12253113	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12413371	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12570131	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12570639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12571331	0.83[AMR][1000 genomes]
rs12572346	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12572581	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12573160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12573349	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12762731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12765184	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12765681	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12768487	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12769214	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12769771	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12770433	0.99[EUR][1000 genomes]
rs12770684	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12771188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12771844	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12772552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12773536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12775017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12775041	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12776656	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12778199	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12779667	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12779915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12780234	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12780237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12781171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12782128	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12782235	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12782454	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12783598	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17096702	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1819162	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1819163	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1853167	0.88[CEU][hapmap];0.81[AMR][1000 genomes]
rs1923260	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1923261	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1923262	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1960047	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1993845	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2038554	0.95[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2057358	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2067661	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306157	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34325090	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34466534	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34559481	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34878240	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35254974	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35388513	0.83[AMR][1000 genomes]
rs35662941	0.88[AMR][1000 genomes]
rs35814940	0.83[AMR][1000 genomes]
rs3740278	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3781187	0.86[YRI][hapmap]
rs3816651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4443987	0.97[EUR][1000 genomes]
rs6586102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66863455	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7068030	0.81[YRI][hapmap]
rs7068497	0.87[CEU][hapmap]
rs7073644	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7080206	0.81[YRI][hapmap]
rs7085412	0.81[AMR][1000 genomes]
rs7090088	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7090432	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7096449	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7097745	0.81[YRI][hapmap]
rs7098653	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7480	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7481	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7898915	0.87[CEU][hapmap];0.81[AMR][1000 genomes]
rs7901767	0.83[AMR][1000 genomes]
rs7904344	1.00[CEU][hapmap];0.80[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7905932	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7908203	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7910692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7913763	0.84[AMR][1000 genomes]
rs7920778	1.00[CEU][hapmap];0.96[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7920910	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7921889	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9651491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9663978	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9664653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518233	chr10:89512839-89584002	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1041462	chr10:89518729-89584284	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr10:89473000-89577200	Weak transcription	Gastric	stomach
2	chr10:89495000-89576400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:89495200-89577400	Weak transcription	Spleen	Spleen
4	chr10:89511000-89576800	Weak transcription	Colonic Mucosa	Colon
5	chr10:89513400-89577000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr10:89520600-89575600	Weak transcription	Stomach Mucosa	stomach
7	chr10:89527400-89575000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr10:89530800-89575800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr10:89536200-89574600	Weak transcription	Brain Anterior Caudate	brain
10	chr10:89537000-89576400	Weak transcription	HSMMtube	muscle
11	chr10:89541800-89575000	Weak transcription	Right Ventricle	heart
12	chr10:89543400-89577200	Weak transcription	Aorta	Aorta
13	chr10:89548200-89574800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr10:89549400-89575400	Weak transcription	Brain Angular Gyrus	brain
15	chr10:89554400-89577200	Weak transcription	Pancreas	Pancrea
16	chr10:89557000-89575000	Weak transcription	Adipose Nuclei	Adipose
17	chr10:89557000-89575800	Weak transcription	NH-A	brain
18	chr10:89560600-89575000	Weak transcription	Small Intestine	intestine
19	chr10:89560800-89575600	Weak transcription	Fetal Brain Male	brain
20	chr10:89561600-89576600	Weak transcription	Fetal Kidney	kidney
21	chr10:89561800-89576200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr10:89562200-89574600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr10:89562200-89574800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr10:89562400-89575000	Weak transcription	Psoas Muscle	Psoas
25	chr10:89562400-89577400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr10:89562600-89575600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr10:89563000-89576600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr10:89563600-89575400	Weak transcription	Colon Smooth Muscle	Colon
29	chr10:89563800-89576600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr10:89563800-89577400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr10:89564000-89575000	Weak transcription	Fetal Heart	heart
32	chr10:89564000-89577200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr10:89564400-89577200	Weak transcription	Lung	lung
34	chr10:89564800-89575600	Weak transcription	Brain Substantia Nigra	brain
35	chr10:89565200-89577000	Weak transcription	Ovary	ovary
36	chr10:89565600-89575000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr10:89565800-89576000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr10:89566000-89575000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr10:89566600-89574800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr10:89567000-89575000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr10:89567400-89576200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr10:89568400-89576400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr10:89568800-89577000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr10:89569400-89574600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr10:89569400-89575000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr10:89569800-89576800	Weak transcription	Fetal Stomach	stomach
47	chr10:89571000-89577200	Weak transcription	Esophagus	oesophagus
48	chr10:89571800-89574800	Weak transcription	K562	blood
49	chr10:89572000-89575400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr10:89572000-89575600	Weak transcription	Brain Hippocampus Middle	brain

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