Variant report

Variant	rs11253488
Chromosome Location	chr10:922482-922483
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:916687..920893-chr10:921035..925677,5	K562	blood:
2	chr10:921829..924163-chr10:935534..937839,2	MCF-7	breast:

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs1013504	0.86[CEU][hapmap]
rs1013505	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10508208	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10904577	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10904580	1.00[ASN][1000 genomes]
rs10904581	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs10904583	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs10904584	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs1106064	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs11253444	1.00[CEU][hapmap]
rs11253445	1.00[CEU][hapmap]
rs11253446	1.00[CEU][hapmap]
rs11253458	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253459	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11253460	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253462	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11253465	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253467	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253468	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253473	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253475	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253485	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253492	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253493	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253494	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253495	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11253499	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253504	0.84[CEU][hapmap]
rs11253509	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs11253511	1.00[ASN][1000 genomes]
rs11253513	1.00[ASN][1000 genomes]
rs11253517	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs11253520	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs11253521	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs11812170	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11812523	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11813210	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11815185	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11816064	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11817793	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11818288	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11818325	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12240651	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12244253	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12244355	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12249634	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12249828	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12250936	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12250937	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12251396	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12254002	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12258388	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12259338	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs12259720	1.00[ASN][1000 genomes]
rs12259801	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs12260800	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12261911	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12264390	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs12264711	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12267709	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12354639	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs12357633	0.86[CEU][hapmap]
rs12359645	1.00[ASN][1000 genomes]
rs12360270	1.00[ASN][1000 genomes]
rs12761424	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs12762973	1.00[ASN][1000 genomes]
rs12763396	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12764024	0.85[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12765174	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12766381	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12768348	1.00[CEU][hapmap]
rs12769002	1.00[CEU][hapmap]
rs12769431	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12769873	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12770190	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12774985	1.00[CEU][hapmap]
rs12778891	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12783472	1.00[ASN][1000 genomes]
rs13377166	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1341741	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1341742	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1539174	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs1555899	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159950	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159970	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2050944	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34254874	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34270014	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34284130	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34405399	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs34433840	1.00[ASN][1000 genomes]
rs34847097	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35174953	1.00[ASN][1000 genomes]
rs35394603	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35567307	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35637113	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35693858	1.00[ASN][1000 genomes]
rs35825568	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35968821	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4522091	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56318703	1.00[ASN][1000 genomes]
rs56347655	1.00[ASN][1000 genomes]
rs61830929	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61830932	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66631678	0.97[AMR][1000 genomes]
rs7067865	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7074642	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7077278	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72778215	0.97[AMR][1000 genomes]
rs72778229	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765867	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7908138	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs7914758	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
13	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:126 , 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	chr10:886800-924400	Weak transcription	Fetal Brain Male	brain
4	chr10:897200-929600	Strong transcription	Primary T cells from cord blood	blood
5	chr10:899000-932000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr10:899800-931200	Strong transcription	Primary B cells from cord blood	blood
7	chr10:901000-932000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr10:902000-933200	Strong transcription	Dnd41	blood
9	chr10:903200-922600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr10:903200-931800	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr10:903600-931800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr10:905000-931600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:905200-931600	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr10:907600-923600	Weak transcription	Fetal Kidney	kidney
15	chr10:908000-927200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr10:908200-932600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr10:909200-923400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr10:909400-923600	Weak transcription	Brain Substantia Nigra	brain
19	chr10:909400-923800	Weak transcription	Colon Smooth Muscle	Colon
20	chr10:909800-927200	Weak transcription	Small Intestine	intestine
21	chr10:910200-922600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr10:910200-923400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr10:910200-923800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr10:910200-945800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr10:910400-924000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr10:911600-923000	Weak transcription	Hela-S3	cervix
27	chr10:911600-927600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr10:914600-931800	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr10:914600-933000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr10:914800-923000	Strong transcription	HepG2	liver
31	chr10:915000-923400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr10:915200-931800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr10:915400-923800	Weak transcription	Brain Hippocampus Middle	brain
34	chr10:915400-932000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr10:915800-924800	Strong transcription	Fetal Intestine Large	intestine
36	chr10:915800-931800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr10:916000-923800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr10:916000-931800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr10:916000-931800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr10:916000-931800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr10:916200-930600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr10:916200-931600	Strong transcription	Primary B cells from peripheral blood	blood
43	chr10:916200-931600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr10:916200-931800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr10:916400-924000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:916600-931800	Strong transcription	Placenta	Placenta
47	chr10:917000-923400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr10:917400-922600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr10:917400-923600	Weak transcription	NH-A	brain
50	chr10:917400-926800	Weak transcription	Brain Angular Gyrus	brain

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