Variant report

Variant	rs35548120
Chromosome Location	chr11:93215398-93215399
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11020387	0.80[EUR][1000 genomes]
rs11020388	0.80[EUR][1000 genomes]
rs11020390	0.80[EUR][1000 genomes]
rs11603107	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11603540	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11603560	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11604399	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11606253	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11606261	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11606262	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11606505	0.80[EUR][1000 genomes]
rs11607585	0.80[EUR][1000 genomes]
rs12791489	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12796609	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12797006	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12806700	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12808363	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808921	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2605596	0.91[ASN][1000 genomes]
rs2658797	0.91[ASN][1000 genomes]
rs28638787	0.80[EUR][1000 genomes]
rs3207348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34028949	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34580908	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34716358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34819559	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34825570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35061570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35364744	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35368196	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35901746	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35930354	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3794007	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3794008	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6483248	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66464546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67927069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111773	0.80[EUR][1000 genomes]
rs7130465	0.80[EUR][1000 genomes]
rs71480681	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71480682	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7365	0.83[ASN][1000 genomes]
rs7928401	0.80[EUR][1000 genomes]
rs897555	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039134	chr11:92790000-93219942	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv2760208	chr11:93172673-93266594	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35548120	SMCO4	cis	Whole Blood	GTEx

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93207000-93239000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:93207800-93220000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:93208200-93223200	Weak transcription	GM12878-XiMat	blood
4	chr11:93208400-93218400	Weak transcription	Left Ventricle	heart
5	chr11:93208600-93217800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr11:93209000-93231400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:93209000-93235200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:93209200-93229200	Weak transcription	Dnd41	blood
9	chr11:93209400-93218800	Strong transcription	Fetal Intestine Small	intestine
10	chr11:93209600-93229400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:93209800-93217200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:93210000-93215800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr11:93210600-93215400	Weak transcription	Fetal Lung	lung
14	chr11:93210600-93220000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:93210600-93231600	Weak transcription	A549	lung
16	chr11:93211000-93218600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:93211000-93225800	Weak transcription	Thymus	Thymus
18	chr11:93211000-93253400	Weak transcription	Primary T cells from cord blood	blood
19	chr11:93211200-93215600	Weak transcription	Fetal Brain Female	brain
20	chr11:93211200-93222000	Weak transcription	Adipose Nuclei	Adipose
21	chr11:93211600-93216600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:93211600-93219000	Weak transcription	HepG2	liver
23	chr11:93211600-93220400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:93211600-93223000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:93211600-93243800	Weak transcription	Fetal Thymus	thymus
26	chr11:93211800-93218600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:93211800-93220200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:93212000-93220000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:93212200-93215400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:93212200-93216200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:93212200-93218000	Weak transcription	Ovary	ovary
32	chr11:93212200-93220600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:93212200-93221200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:93212200-93222800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr11:93212200-93234800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:93212400-93222600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr11:93212400-93225800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:93212800-93217000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr11:93213000-93217200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:93213000-93219200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:93213000-93220400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr11:93213000-93221200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:93213000-93221400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:93213400-93218800	Enhancers	Fetal Brain Male	brain
45	chr11:93213600-93215400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr11:93213600-93215600	Enhancers	Liver	Liver
47	chr11:93213600-93217000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:93213800-93215600	Enhancers	Duodenum Mucosa	Duodenum
49	chr11:93213800-93215600	Enhancers	Stomach Mucosa	stomach
50	chr11:93213800-93215600	Strong transcription	Stomach Smooth Muscle	stomach

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