Variant report

Variant	rs11264413
Chromosome Location	chr1:155788656-155788657
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10796954	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11264410	0.86[ASN][1000 genomes]
rs12024187	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12024257	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12040894	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12407800	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1973768	0.95[ASN][1000 genomes]
rs2297775	0.82[ASN][1000 genomes]
rs28582361	0.90[ASN][1000 genomes]
rs2948071	0.83[ASN][1000 genomes]
rs2948072	0.84[ASN][1000 genomes]
rs2985707	0.86[ASN][1000 genomes]
rs35698157	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6657670	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662953	0.88[ASN][1000 genomes]
rs708611	0.83[ASN][1000 genomes]
rs822025	0.84[ASN][1000 genomes]
rs822478	0.85[ASN][1000 genomes]
rs822527	0.82[ASN][1000 genomes]
rs860295	0.86[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	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv872469	chr1:155743310-155810293	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1003170	chr1:155762204-155836564	Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11264413	RIT1	cis	Thyroid	GTEx
rs11264413	RIT1	Cis_1M	lymphoblastoid	RTeQTL
rs11264413	FDPS	Cis_1M	lymphoblastoid	RTeQTL
rs11264413	GON4L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155715400-155789200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:155716000-155793400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:155717400-155795800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:155720200-155798200	Strong transcription	Fetal Thymus	thymus
5	chr1:155720200-155803600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:155720400-155796800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:155732200-155789200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:155746400-155791400	Weak transcription	Stomach Mucosa	stomach
9	chr1:155747800-155791200	Weak transcription	Fetal Heart	heart
10	chr1:155748000-155789400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:155762200-155798000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:155765200-155803800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:155765200-155813200	Weak transcription	Psoas Muscle	Psoas
14	chr1:155771400-155798400	Strong transcription	Fetal Muscle Leg	muscle
15	chr1:155771600-155798200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:155772000-155798000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:155775000-155795600	Weak transcription	Small Intestine	intestine
18	chr1:155776000-155796600	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr1:155777200-155795800	Weak transcription	Aorta	Aorta
20	chr1:155778000-155797200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:155778200-155795400	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr1:155779600-155797600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:155780000-155797800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr1:155780000-155798000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:155780200-155796400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:155780200-155796800	Strong transcription	Osteobl	bone
27	chr1:155780200-155797600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:155780400-155791400	Strong transcription	Liver	Liver
29	chr1:155780400-155793800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:155780400-155796800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr1:155780400-155797400	Strong transcription	Adipose Nuclei	Adipose
32	chr1:155780400-155797600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:155780400-155797600	Strong transcription	Dnd41	blood
34	chr1:155780400-155797600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr1:155780400-155797800	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:155780400-155798200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:155780600-155794200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:155780600-155796000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:155780600-155796400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:155780600-155796800	Strong transcription	Primary T cells from cord blood	blood
41	chr1:155780600-155797000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:155780600-155797200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:155780600-155797200	Strong transcription	NH-A	brain
44	chr1:155781600-155796800	Strong transcription	Placenta	Placenta
45	chr1:155781600-155798000	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr1:155781600-155798200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:155781800-155797000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr1:155782000-155796800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr1:155782200-155796400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:155782200-155800800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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