Variant report

Variant	rs31910
Chromosome Location	chr5:14810834-14810835
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14809897..14811757-chr5:14812423..14814739,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1620976	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1679138	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs174018	0.80[ASN][1000 genomes]
rs1812659	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2448493	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2453320	0.92[ASN][1000 genomes]
rs258220	0.96[CEU][hapmap];0.94[CHB][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs258232	0.92[ASN][1000 genomes]
rs25946	0.81[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.81[ASN][1000 genomes]
rs26304	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs26305	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs26306	0.82[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs27353	0.82[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs30613	1.00[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs31907	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs31911	1.00[CEU][hapmap];0.93[CHB][hapmap];0.81[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs31917	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs31931	0.80[ASN][1000 genomes]
rs31987	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs31988	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs31989	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs31990	0.87[CHB][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs379016	0.82[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs40402	0.92[CEU][hapmap];0.94[CHB][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs412056	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.85[TSI][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs42274	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs43178	0.82[ASN][1000 genomes]
rs826351	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs826355	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs826356	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]
rs826358	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs31910	ANKH	cis	parietal	SCAN

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14777200-14811400	Weak transcription	Colonic Mucosa	Colon
2	chr5:14778200-14817200	Weak transcription	Fetal Brain Female	brain
3	chr5:14796400-14821800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:14801200-14811200	Weak transcription	Esophagus	oesophagus
5	chr5:14806800-14811000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:14809400-14811200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:14809400-14811600	Enhancers	HMEC	breast
8	chr5:14809400-14812800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:14809400-14813400	Enhancers	Primary B cells from peripheral blood	blood
10	chr5:14809600-14811000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr5:14809600-14811000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr5:14809600-14811000	Enhancers	Brain Substantia Nigra	brain
13	chr5:14809600-14811400	Strong transcription	Fetal Intestine Small	intestine
14	chr5:14809600-14811400	Enhancers	Small Intestine	intestine
15	chr5:14809600-14811400	Enhancers	HepG2	liver
16	chr5:14809600-14811400	Enhancers	HSMM	muscle
17	chr5:14809600-14811400	Enhancers	NHLF	lung
18	chr5:14809600-14811600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:14809600-14811600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:14809600-14811600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:14809600-14811600	Enhancers	Primary hematopoietic stem cells	blood
22	chr5:14809600-14811600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:14809600-14811600	Enhancers	Liver	Liver
24	chr5:14809600-14811600	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr5:14809600-14811600	Enhancers	Psoas Muscle	Psoas
26	chr5:14809600-14811600	Enhancers	Right Ventricle	heart
27	chr5:14809600-14811600	Enhancers	HUVEC	blood vessel
28	chr5:14809600-14811800	Enhancers	Fetal Thymus	thymus
29	chr5:14809600-14811800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr5:14809600-14814400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr5:14809600-14815000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr5:14809800-14811000	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr5:14809800-14811200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr5:14809800-14811600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr5:14809800-14811600	Enhancers	Right Atrium	heart
36	chr5:14809800-14811800	Enhancers	Placenta	Placenta
37	chr5:14810000-14811000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:14810000-14811200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:14810000-14811600	Enhancers	Adipose Nuclei	Adipose
40	chr5:14810000-14811600	Flanking Active TSS	Dnd41	blood
41	chr5:14810200-14811000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr5:14810200-14811000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:14810200-14811200	Enhancers	Brain Angular Gyrus	brain
44	chr5:14810200-14811200	Enhancers	Brain Hippocampus Middle	brain
45	chr5:14810200-14811200	Weak transcription	Lung	lung
46	chr5:14810200-14811200	Weak transcription	Spleen	Spleen
47	chr5:14810200-14811200	Enhancers	NHEK	skin
48	chr5:14810200-14811600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:14810200-14811600	Enhancers	Left Ventricle	heart
50	chr5:14810200-14811600	Enhancers	NHDF-Ad	bronchial

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