Variant report

Variant	rs17250963
Chromosome Location	chr5:14752850-14752851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr5:14752604-14752964	HepG2	liver:	n/a	n/a
2	FOXA1	chr5:14752583-14753117	HepG2	liver:	n/a	n/a
3	MAFK	chr5:14752780-14752868	HepG2	liver:	n/a	n/a
4	SPI1	chr5:14752837-14753111	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
ANKH	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10036729	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10052744	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10080009	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs153921	0.81[ASW][hapmap];0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs153923	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs153924	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs153925	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs153926	0.81[ASW][hapmap];0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes]
rs153927	0.95[CEU][hapmap]
rs153929	0.95[CEU][hapmap]
rs153930	0.95[CEU][hapmap]
rs153932	0.95[CEU][hapmap]
rs153933	0.95[CEU][hapmap]
rs1697126	0.84[EUR][1000 genomes]
rs17296541	1.00[CHD][hapmap]
rs17364066	1.00[CHD][hapmap]
rs187483	0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.83[EUR][1000 genomes]
rs2921521	1.00[CHD][hapmap]
rs3045	1.00[CHD][hapmap]
rs3845281	1.00[CHD][hapmap]
rs59068551	0.83[EUR][1000 genomes]
rs6892588	1.00[CHD][hapmap]
rs696294	0.81[CEU][hapmap]
rs697565	0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs697571	1.00[CEU][hapmap];0.90[TSI][hapmap];0.84[EUR][1000 genomes]
rs697572	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72732799	0.87[EUR][1000 genomes]
rs72732801	0.87[EUR][1000 genomes]
rs89356	1.00[CHD][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Homeostasis model assessment of insulin resistance (interaction)	24204828	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14725400-14758600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:14727200-14757000	Weak transcription	NHLF	lung
3	chr5:14729200-14791000	Weak transcription	Small Intestine	intestine
4	chr5:14730000-14758400	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr5:14733400-14753000	Weak transcription	Fetal Brain Male	brain
6	chr5:14736600-14760000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr5:14736800-14753800	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr5:14736800-14757400	Strong transcription	Duodenum Mucosa	Duodenum
9	chr5:14737000-14754200	Strong transcription	Liver	Liver
10	chr5:14737800-14759200	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr5:14737800-14759400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr5:14739600-14753800	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:14740800-14755200	Weak transcription	NHDF-Ad	bronchial
14	chr5:14741600-14753800	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:14741600-14767800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr5:14742800-14756600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr5:14742800-14758400	Strong transcription	Primary T cells from cord blood	blood
18	chr5:14743000-14756800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:14744200-14757400	Strong transcription	Dnd41	blood
20	chr5:14744600-14758600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:14744600-14761800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:14744600-14775800	Weak transcription	NH-A	brain
23	chr5:14744800-14757200	Weak transcription	HUVEC	blood vessel
24	chr5:14744800-14776000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr5:14745000-14754600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:14745000-14756200	Strong transcription	Osteobl	bone
27	chr5:14745200-14753600	Strong transcription	Brain Cingulate Gyrus	brain
28	chr5:14745800-14757800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr5:14746000-14790200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr5:14746200-14760200	Weak transcription	Fetal Muscle Leg	muscle
31	chr5:14746200-14762400	Weak transcription	GM12878-XiMat	blood
32	chr5:14746200-14775800	Weak transcription	Spleen	Spleen
33	chr5:14746400-14768000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr5:14746600-14754000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:14746600-14776000	Weak transcription	Placenta	Placenta
36	chr5:14747600-14753600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:14747600-14754400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr5:14748400-14753400	Strong transcription	Lung	lung
39	chr5:14748600-14753200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:14748800-14760000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr5:14749000-14753000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:14749000-14753000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:14749000-14753200	Weak transcription	Gastric	stomach
44	chr5:14749000-14776000	Weak transcription	Esophagus	oesophagus
45	chr5:14749400-14753000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:14749400-14753000	Weak transcription	Ovary	ovary
47	chr5:14750000-14754000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:14750000-14758400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:14750200-14753400	Strong transcription	Aorta	Aorta
50	chr5:14750200-14754200	Weak transcription	HMEC	breast

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