Variant report

Variant	rs11253475
Chromosome Location	chr10:907262-907263
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs1013504	0.84[CEU][hapmap]
rs1013505	0.94[CEU][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10508208	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10904577	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10904580	1.00[ASN][1000 genomes]
rs10904581	0.95[CEU][hapmap];1.00[ASN][1000 genomes]
rs10904583	0.94[CEU][hapmap];1.00[ASN][1000 genomes]
rs10904584	0.95[CEU][hapmap];1.00[ASN][1000 genomes]
rs1106064	0.95[CEU][hapmap];1.00[ASN][1000 genomes]
rs11253444	0.94[CEU][hapmap]
rs11253445	0.94[CEU][hapmap]
rs11253446	0.94[CEU][hapmap]
rs11253458	1.00[CEU][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253459	0.94[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11253460	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253462	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11253465	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253467	1.00[CEU][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253468	1.00[CEU][hapmap];0.94[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253473	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253483	0.81[YRI][hapmap]
rs11253485	1.00[CEU][hapmap];0.80[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253488	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253492	1.00[CEU][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253493	1.00[CEU][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253494	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253495	1.00[CEU][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11253499	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253504	0.82[CEU][hapmap]
rs11253509	0.94[CEU][hapmap];1.00[ASN][1000 genomes]
rs11253511	1.00[ASN][1000 genomes]
rs11253513	1.00[ASN][1000 genomes]
rs11253517	0.94[CEU][hapmap];1.00[ASN][1000 genomes]
rs11253520	0.95[CEU][hapmap];1.00[ASN][1000 genomes]
rs11253521	0.95[CEU][hapmap];1.00[ASN][1000 genomes]
rs11812170	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11812523	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11813210	1.00[CEU][hapmap];0.80[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11815185	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11816064	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11817793	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11818288	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11818325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12240651	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12244253	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12244355	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12249634	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12249828	1.00[CEU][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12250936	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12250937	1.00[CEU][hapmap];0.94[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12251396	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12254002	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12258388	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12259338	0.94[CEU][hapmap];1.00[ASN][1000 genomes]
rs12259720	1.00[ASN][1000 genomes]
rs12259801	0.95[CEU][hapmap];1.00[ASN][1000 genomes]
rs12260800	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12261911	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12264390	0.95[CEU][hapmap];1.00[ASN][1000 genomes]
rs12264711	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12267709	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12354639	0.95[CEU][hapmap];1.00[ASN][1000 genomes]
rs12357633	0.84[CEU][hapmap]
rs12359645	1.00[ASN][1000 genomes]
rs12360270	1.00[ASN][1000 genomes]
rs12761424	0.94[CEU][hapmap];1.00[ASN][1000 genomes]
rs12762228	0.80[EUR][1000 genomes]
rs12762973	1.00[ASN][1000 genomes]
rs12763396	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12764024	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12765174	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12766381	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12768348	0.94[CEU][hapmap];0.80[EUR][1000 genomes]
rs12769002	0.94[CEU][hapmap]
rs12769431	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12769873	1.00[CEU][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12770190	0.94[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12774985	0.94[CEU][hapmap];0.80[EUR][1000 genomes]
rs12778891	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12783472	1.00[ASN][1000 genomes]
rs13377166	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1341741	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1341742	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1539174	0.94[CEU][hapmap];1.00[ASN][1000 genomes]
rs1555899	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159950	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159970	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2050944	0.95[CEU][hapmap];0.80[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34254874	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34270014	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34284130	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34318754	0.80[EUR][1000 genomes]
rs34405399	0.94[CEU][hapmap];1.00[ASN][1000 genomes]
rs34433840	1.00[ASN][1000 genomes]
rs34847097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35174953	1.00[ASN][1000 genomes]
rs35370435	0.80[EUR][1000 genomes]
rs35394603	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35443149	0.80[EUR][1000 genomes]
rs35567307	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35637113	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35693858	1.00[ASN][1000 genomes]
rs35825568	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35957139	0.80[EUR][1000 genomes]
rs35968821	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4522091	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55697724	0.80[EUR][1000 genomes]
rs56318703	1.00[ASN][1000 genomes]
rs56347655	1.00[ASN][1000 genomes]
rs61830929	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61830932	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66631678	0.97[AMR][1000 genomes]
rs7067865	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7074642	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7077278	1.00[CEU][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7088956	0.80[EUR][1000 genomes]
rs72778215	0.97[AMR][1000 genomes]
rs72778229	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765867	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7908138	0.95[CEU][hapmap];1.00[ASN][1000 genomes]
rs7914758	0.94[CEU][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916591	chr10:224406-1088734	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv540386	chr10:224406-1197416	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1054659	chr10:611444-1133578	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv948602	chr10:708293-944641	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv949063	chr10:708293-974870	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv466697	chr10:734229-1129527	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	nsv549765	chr10:734229-1129527	Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1043812	chr10:776547-981126	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv540406	chr10:776547-981126	Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv530116	chr10:776548-1401075	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	nsv948978	chr10:813426-1019115	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1048707	chr10:834439-915534	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv1052540	chr10:887562-1300134	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
14	nsv540407	chr10:887562-1300134	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:852200-956400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:870600-959400	Weak transcription	Stomach Mucosa	stomach
3	chr10:883200-917200	Weak transcription	Colonic Mucosa	Colon
4	chr10:886800-924400	Weak transcription	Fetal Brain Male	brain
5	chr10:890400-916000	Weak transcription	Aorta	Aorta
6	chr10:892600-909400	Weak transcription	Small Intestine	intestine
7	chr10:892800-909000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr10:892800-909000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr10:893000-907600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr10:893000-909400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr10:893200-908200	Weak transcription	Spleen	Spleen
12	chr10:893400-907800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr10:894000-912400	Weak transcription	Psoas Muscle	Psoas
14	chr10:896200-909600	Weak transcription	Brain Germinal Matrix	brain
15	chr10:897200-929600	Strong transcription	Primary T cells from cord blood	blood
16	chr10:898000-909400	Weak transcription	Esophagus	oesophagus
17	chr10:898000-911200	Weak transcription	Pancreas	Pancrea
18	chr10:899000-932000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr10:899200-913000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr10:899200-913000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr10:899400-920200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr10:899600-911600	Strong transcription	GM12878-XiMat	blood
23	chr10:899800-931200	Strong transcription	Primary B cells from cord blood	blood
24	chr10:901000-914400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr10:901000-932000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr10:901600-907800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr10:902000-913200	Strong transcription	Fetal Intestine Large	intestine
28	chr10:902000-933200	Strong transcription	Dnd41	blood
29	chr10:902600-908200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr10:903000-908800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr10:903000-911400	Strong transcription	Fetal Thymus	thymus
32	chr10:903000-915000	Strong transcription	Primary B cells from peripheral blood	blood
33	chr10:903200-908200	Weak transcription	HSMMtube	muscle
34	chr10:903200-908800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr10:903200-911000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:903200-922600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr10:903200-931800	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr10:903400-908800	Weak transcription	Brain Angular Gyrus	brain
39	chr10:903400-910400	Weak transcription	Fetal Heart	heart
40	chr10:903600-908600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr10:903600-909400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr10:903600-909400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr10:903600-909600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:903600-909600	Weak transcription	Brain Anterior Caudate	brain
45	chr10:903600-911200	Weak transcription	Right Ventricle	heart
46	chr10:903600-911400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr10:903600-913000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr10:903600-931800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr10:904600-908200	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr10:904600-908800	Weak transcription	Brain Hippocampus Middle	brain

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