Variant report

Variant	rs10866526
Chromosome Location	chr5:1796312-1796313
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:1793765..1806799-chr5:1879445..1889322,45	MCF-7	breast:
2	chr5:1762386..1764429-chr5:1795462..1797247,2	K562	blood:
3	chr5:1769932..1772068-chr5:1795879..1799269,3	MCF-7	breast:
4	chr5:1787615..1789328-chr5:1793761..1797388,3	K562	blood:

Variant related genes	Relation type
ENSG00000113430	Chromatin interaction
ENSG00000249116	Chromatin interaction
ENSG00000249326	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10074291	0.88[ASN][1000 genomes]
rs10475109	0.88[ASN][1000 genomes]
rs11739312	0.86[ASN][1000 genomes]
rs11740602	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11740753	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11741881	0.86[CEU][hapmap];0.93[CHB][hapmap];0.83[ASN][1000 genomes]
rs11748427	0.89[ASN][1000 genomes]
rs11750565	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12513579	0.95[CEU][hapmap]
rs12513620	0.95[CEU][hapmap]
rs1546252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17535295	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17535337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs17535721	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2131588	0.90[CEU][hapmap];0.92[CHB][hapmap];0.83[ASN][1000 genomes]
rs2131589	0.86[CEU][hapmap];0.93[CHB][hapmap];0.83[ASN][1000 genomes]
rs2172530	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs2353585	0.85[CEU][hapmap];0.83[ASN][1000 genomes]
rs3752844	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3756344	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3776152	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3776154	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4147775	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4275010	0.95[CEU][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4277951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4296838	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4296839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4304110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4416633	0.89[CEU][hapmap];0.92[CHB][hapmap];0.83[ASN][1000 genomes]
rs4588629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60542979	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62336037	0.80[ASN][1000 genomes]
rs62338060	0.88[ASN][1000 genomes]
rs62338061	0.89[ASN][1000 genomes]
rs62338062	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6859338	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6862914	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6864281	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6868515	0.80[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6873986	0.86[CEU][hapmap];0.93[CHB][hapmap];0.83[ASN][1000 genomes]
rs6880885	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881253	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]
rs6890404	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894566	0.95[CEU][hapmap];0.92[CHB][hapmap];0.83[ASN][1000 genomes]
rs7701970	0.88[ASN][1000 genomes]
rs7703762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7714300	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933805	chr5:1450724-1941619	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
3	nsv1034552	chr5:1658338-1856553	Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
4	nsv537606	chr5:1658338-1856553	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
5	nsv1033147	chr5:1717303-1815821	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv1020703	chr5:1724199-1814288	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv537608	chr5:1724199-1814288	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv1024133	chr5:1736691-1826510	Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
10	nsv537609	chr5:1736691-1826510	Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10866526	MRPL36	cis	multi-tissue	Pritchard
rs10866526	MRPL36	Cis_1M	lymphoblastoid	RTeQTL
rs10866526	MRPL36	cis	Muscle Skeletal	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1789200-1796400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:1789200-1796400	Weak transcription	Esophagus	oesophagus
3	chr5:1790400-1796400	Weak transcription	Brain Anterior Caudate	brain
4	chr5:1790400-1796800	Weak transcription	Brain Hippocampus Middle	brain
5	chr5:1790600-1796400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:1790600-1796600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr5:1790600-1797000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:1790600-1797000	Weak transcription	Fetal Lung	lung
9	chr5:1790600-1797800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:1790800-1796400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:1790800-1796600	Weak transcription	Adipose Nuclei	Adipose
12	chr5:1790800-1797000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:1791000-1796400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:1791000-1796400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:1791000-1796600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:1791000-1796600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:1791000-1798800	Weak transcription	Fetal Brain Male	brain
18	chr5:1791000-1800200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr5:1791400-1796600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr5:1791600-1796600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:1792400-1797600	Weak transcription	Fetal Kidney	kidney
22	chr5:1792800-1796800	Weak transcription	Fetal Intestine Large	intestine
23	chr5:1793000-1796400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr5:1793000-1796800	Weak transcription	K562	blood
25	chr5:1793200-1798800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:1793400-1796400	Weak transcription	Dnd41	blood
27	chr5:1793400-1797000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr5:1793600-1796400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:1793600-1796600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:1793600-1796600	Weak transcription	Left Ventricle	heart
31	chr5:1793800-1796400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr5:1793800-1797600	Weak transcription	HUVEC	blood vessel
33	chr5:1794000-1796400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr5:1794000-1798600	Weak transcription	Stomach Mucosa	stomach
35	chr5:1794400-1796400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr5:1794400-1796600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr5:1794400-1797600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr5:1794400-1798200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr5:1794400-1799200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr5:1794600-1796400	Weak transcription	A549	lung
41	chr5:1794600-1796400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr5:1794600-1796800	Weak transcription	Fetal Heart	heart
43	chr5:1794600-1797000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:1794600-1797000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr5:1794600-1797200	Weak transcription	Colon Smooth Muscle	Colon
46	chr5:1794600-1797800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr5:1794600-1798200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr5:1794600-1799200	Weak transcription	Small Intestine	intestine
49	chr5:1794800-1796400	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr5:1794800-1796400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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