Variant report

Variant	rs17516312
Chromosome Location	chr10:43083671-43083672
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11239668	0.85[CEU][hapmap]
rs11239670	0.85[CEU][hapmap]
rs12240565	0.85[CEU][hapmap]
rs12256867	0.85[CEU][hapmap]
rs12261023	0.85[CEU][hapmap]
rs12261168	0.85[CEU][hapmap]
rs1413393	0.85[CEU][hapmap]
rs1591248	0.85[CEU][hapmap]
rs17343205	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17418741	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17427443	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[EUR][1000 genomes]
rs17428442	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2151677	0.83[EUR][1000 genomes]
rs2297693	0.85[CEU][hapmap]
rs2419368	0.85[CEU][hapmap]
rs3740324	0.85[CEU][hapmap]
rs3758512	0.85[CEU][hapmap]
rs41301641	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs672073	0.85[CEU][hapmap]
rs7068874	0.82[CEU][hapmap]
rs7069663	0.85[CEU][hapmap]
rs7070151	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7081324	1.00[AFR][1000 genomes]
rs7093463	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7097647	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7097766	0.85[CEU][hapmap]
rs7905834	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7908318	0.98[EUR][1000 genomes]
rs7910549	0.91[EUR][1000 genomes]
rs7916307	0.85[CEU][hapmap]
rs7918290	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7918310	0.87[EUR][1000 genomes]
rs882993	0.98[EUR][1000 genomes]
rs9730806	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9787682	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv817455	chr10:42607635-43151812	Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv550670	chr10:42725663-43089965	Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv550672	chr10:42753190-43441729	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS 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 miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv895064	chr10:42783481-43243325	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv533331	chr10:42830221-43356410	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1042764	chr10:42846383-43511712	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
10	nsv469725	chr10:42965130-43178323	Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv482513	chr10:42965130-43178323	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	esv2758216	chr10:42965131-43510191	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
13	esv2759746	chr10:42965131-43510191	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43076000-43088400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr10:43076800-43087000	Weak transcription	Fetal Heart	heart
3	chr10:43077600-43088000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:43077800-43109600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr10:43080600-43086600	Weak transcription	Stomach Mucosa	stomach
6	chr10:43080800-43088000	Weak transcription	Right Ventricle	heart
7	chr10:43081000-43087200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr10:43081000-43087800	Weak transcription	Brain Hippocampus Middle	brain
9	chr10:43081000-43087800	Weak transcription	Psoas Muscle	Psoas
10	chr10:43081400-43085400	Strong transcription	Primary B cells from cord blood	blood
11	chr10:43081400-43087800	Weak transcription	Brain Anterior Caudate	brain
12	chr10:43081800-43086400	Weak transcription	Fetal Muscle Leg	muscle
13	chr10:43081800-43086600	Weak transcription	HepG2	liver
14	chr10:43081800-43086800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:43081800-43092000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
16	chr10:43082000-43083800	Strong transcription	Primary T cells from cord blood	blood
17	chr10:43082000-43084000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:43082000-43084400	ZNF genes & repeats	Lung	lung
19	chr10:43082000-43084400	Strong transcription	Ovary	ovary
20	chr10:43082000-43085200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
21	chr10:43082000-43085600	Strong transcription	Fetal Brain Female	brain
22	chr10:43082000-43092200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr10:43082200-43084000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
24	chr10:43082200-43084400	Strong transcription	Brain Germinal Matrix	brain
25	chr10:43082200-43084400	Strong transcription	Fetal Lung	lung
26	chr10:43082200-43092600	ZNF genes & repeats	Liver	Liver
27	chr10:43082400-43084000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:43082400-43084400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
29	chr10:43082400-43084400	Strong transcription	Adipose Nuclei	Adipose
30	chr10:43082400-43084400	Strong transcription	Placenta	Placenta
31	chr10:43082400-43084400	ZNF genes & repeats	Gastric	stomach
32	chr10:43082400-43084400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
33	chr10:43082400-43085000	ZNF genes & repeats	Aorta	Aorta
34	chr10:43082400-43085000	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr10:43082400-43086000	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr10:43082600-43084400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr10:43082600-43084400	Strong transcription	Fetal Stomach	stomach
38	chr10:43082600-43084800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr10:43082600-43085000	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr10:43082600-43086400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
41	chr10:43082600-43091400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr10:43082800-43084400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:43082800-43084400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
44	chr10:43082800-43084400	ZNF genes & repeats	Spleen	Spleen
45	chr10:43082800-43087000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr10:43083000-43083800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr10:43083000-43083800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr10:43083000-43084000	Strong transcription	Fetal Thymus	thymus
49	chr10:43083000-43084200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
50	chr10:43083000-43084400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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