Variant report

Variant	rs826356
Chromosome Location	chr5:14845667-14845668
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1061813	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs1374080	0.82[MKK][hapmap]
rs1550826	0.88[MKK][hapmap]
rs1620976	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1679138	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1812659	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2448493	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2453320	0.85[ASN][1000 genomes]
rs258220	0.89[CEU][hapmap];0.88[CHB][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs258232	0.85[ASN][1000 genomes]
rs25946	0.83[CHB][hapmap];0.86[MEX][hapmap]
rs26304	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs26305	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs26306	0.94[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs27353	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.93[TSI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs30613	0.94[CHB][hapmap];0.87[CHD][hapmap];0.82[ASN][1000 genomes]
rs31907	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs31910	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs31911	0.92[CEU][hapmap];0.87[CHB][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs31917	0.88[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];0.93[TSI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs31987	0.85[CEU][hapmap];0.94[CHB][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs31988	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs31989	0.85[CEU][hapmap];0.94[CHB][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs31990	0.82[CHB][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs379016	0.94[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs40402	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs412056	0.83[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[MEX][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs42274	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs826351	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs826355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs826358	1.00[CEU][hapmap];0.93[CHB][hapmap];0.84[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
2	nsv948447	chr5:14771247-14852610	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830212	chr5:14784197-14966683	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	esv2753381	chr5:14814900-14882800	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	esv2755533	chr5:14814900-14882800	Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	esv2755538	chr5:14814900-14927500	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs826356	ANKH	cis	parietal	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14811600-14861200	Weak transcription	Colonic Mucosa	Colon
2	chr5:14812000-14849600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr5:14820600-14854800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:14820800-14851800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:14821200-14848600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:14824800-14869600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr5:14827600-14850000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:14827800-14854600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:14828600-14846600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr5:14828800-14856200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr5:14830400-14852200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:14830400-14866400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:14831000-14870400	Weak transcription	Spleen	Spleen
14	chr5:14831200-14848800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:14831600-14849600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr5:14833200-14846800	Weak transcription	Liver	Liver
17	chr5:14833800-14849600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:14834200-14849800	Weak transcription	Right Ventricle	heart
19	chr5:14835600-14850000	Weak transcription	Gastric	stomach
20	chr5:14835600-14869000	Weak transcription	NHDF-Ad	bronchial
21	chr5:14835800-14849600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:14835800-14849600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr5:14835800-14850800	Weak transcription	Brain Anterior Caudate	brain
24	chr5:14835800-14851400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr5:14835800-14864200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr5:14837000-14849600	Weak transcription	Hela-S3	cervix
27	chr5:14837400-14869400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:14837800-14848800	Weak transcription	NHEK	skin
29	chr5:14838200-14848600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr5:14838200-14852200	Weak transcription	Small Intestine	intestine
31	chr5:14838600-14849800	Strong transcription	Osteobl	bone
32	chr5:14838800-14848800	Weak transcription	Fetal Brain Female	brain
33	chr5:14839200-14859800	Weak transcription	Aorta	Aorta
34	chr5:14839400-14850600	Weak transcription	Pancreas	Pancrea
35	chr5:14840000-14847400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr5:14840200-14864600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:14840400-14846600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr5:14841000-14848800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr5:14841200-14852200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr5:14842400-14849200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:14842600-14850000	Weak transcription	Lung	lung
42	chr5:14842800-14846800	Weak transcription	Thymus	Thymus
43	chr5:14842800-14847200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:14843000-14849800	Weak transcription	Brain Angular Gyrus	brain
45	chr5:14843000-14850000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr5:14843200-14849800	Weak transcription	Psoas Muscle	Psoas
47	chr5:14843200-14849800	Weak transcription	HepG2	liver
48	chr5:14843400-14845800	Weak transcription	Primary T cells from cord blood	blood
49	chr5:14843400-14850600	Weak transcription	Brain Germinal Matrix	brain
50	chr5:14844000-14848600	Weak transcription	HMEC	breast

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