Variant report

Variant	rs4749125
Chromosome Location	chr10:26727636-26727637
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11595895	0.92[EUR][1000 genomes]
rs12770943	0.87[EUR][1000 genomes]
rs12783726	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12783831	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1335540	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1335551	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1335552	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1889686	0.87[EUR][1000 genomes]
rs1889692	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1889693	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2184571	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2992261	0.87[EUR][1000 genomes]
rs2992262	0.87[EUR][1000 genomes]
rs2992263	0.87[EUR][1000 genomes]
rs2992325	0.91[EUR][1000 genomes]
rs2992332	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2992333	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2992334	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2992335	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3006802	0.87[EUR][1000 genomes]
rs3006807	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3006808	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3006810	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3006811	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3006813	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3006815	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3006816	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3006818	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3006819	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3006821	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3006835	0.87[EUR][1000 genomes]
rs35055608	0.93[EUR][1000 genomes]
rs36120850	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4317881	0.85[EUR][1000 genomes]
rs4749126	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59819668	0.87[EUR][1000 genomes]
rs7098710	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7901056	0.92[EUR][1000 genomes]
rs9284109	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9299819	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9299820	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9299821	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs945294	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894975	chr10:26343356-27014467	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1043832	chr10:26669040-26809400	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4749125	APBB1IP	cis	Thyroid	GTEx
rs4749125	APBB1IP	cis	Artery Tibial	GTEx

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26725600-26730400	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr10:26726000-26728000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr10:26726000-26729400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:26726000-26730200	Active TSS	Thymus	Thymus
5	chr10:26726000-26730800	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr10:26726200-26728000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:26726200-26730200	Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr10:26726400-26729200	Active TSS	Duodenum Mucosa	Duodenum
9	chr10:26726400-26729200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr10:26726400-26730200	Active TSS	Fetal Thymus	thymus
11	chr10:26726600-26728200	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr10:26726600-26728600	Active TSS	Colonic Mucosa	Colon
13	chr10:26726600-26729400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr10:26726800-26727800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
15	chr10:26726800-26728200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr10:26726800-26728200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr10:26726800-26728200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr10:26726800-26728200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr10:26726800-26728200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr10:26726800-26728200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr10:26726800-26728200	Bivalent/Poised TSS	Left Ventricle	heart
22	chr10:26726800-26728200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
23	chr10:26726800-26728600	Bivalent/Poised TSS	Fetal Stomach	stomach
24	chr10:26726800-26729000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
25	chr10:26726800-26729000	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr10:26726800-26729000	Active TSS	Rectal Smooth Muscle	rectum
27	chr10:26727000-26727800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr10:26727000-26728000	Bivalent Enhancer	Fetal Brain Male	brain
29	chr10:26727000-26728200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr10:26727000-26728200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr10:26727000-26728200	Active TSS	Spleen	Spleen
32	chr10:26727000-26728400	Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr10:26727000-26728600	Active TSS	Osteobl	bone
34	chr10:26727000-26729000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr10:26727000-26729000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
36	chr10:26727000-26729000	Active TSS	Esophagus	oesophagus
37	chr10:26727000-26729200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr10:26727000-26729200	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr10:26727000-26729200	Active TSS	Right Atrium	heart
40	chr10:26727000-26729400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr10:26727000-26730200	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr10:26727000-26730200	Active TSS	GM12878-XiMat	blood
43	chr10:26727200-26727800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr10:26727200-26728000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr10:26727200-26728000	Active TSS	H9 Cell Line	embryonic stem cell
46	chr10:26727200-26728000	Bivalent/Poised TSS	Fetal Brain Female	brain
47	chr10:26727200-26728200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
48	chr10:26727200-26728200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr10:26727200-26728200	Active TSS	Pancreas	Pancrea
50	chr10:26727200-26728400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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