Variant report

Variant	rs1374080
Chromosome Location	chr5:14852610-14852611
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14851792..14853991-chr5:14869985..14871997,2	MCF-7	breast:
2	chr5:14850589..14853387-chr5:14861534..14863865,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154122	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1004673	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13175317	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1550826	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs166298	0.80[EUR][1000 genomes]
rs17251715	0.92[CEU][hapmap]
rs17251763	0.83[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs17266101	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17317514	0.96[CEU][hapmap];0.88[CHD][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs17318936	0.98[ASN][1000 genomes]
rs2401985	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs258221	0.88[ASN][1000 genomes]
rs258223	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs31908	0.83[ASN][1000 genomes]
rs31916	0.84[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.95[ASN][1000 genomes]
rs31918	0.95[ASN][1000 genomes]
rs33101	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35554212	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35842463	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs368503	0.84[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs398961	0.89[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.94[ASN][1000 genomes]
rs40970	0.96[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs4569871	0.91[ASN][1000 genomes]
rs4702056	0.95[ASN][1000 genomes]
rs55954907	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61169618	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61394862	0.99[ASN][1000 genomes]
rs6884206	0.89[ASN][1000 genomes]
rs7715323	0.89[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[ASN][1000 genomes]
rs826356	0.82[MKK][hapmap]

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
rs1374080	ANKH	cis	parietal	SCAN

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14811600-14861200	Weak transcription	Colonic Mucosa	Colon
2	chr5:14820600-14854800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr5:14824800-14869600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr5:14827800-14854600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr5:14828800-14856200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr5:14830400-14866400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:14831000-14870400	Weak transcription	Spleen	Spleen
8	chr5:14835600-14869000	Weak transcription	NHDF-Ad	bronchial
9	chr5:14835800-14864200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr5:14837400-14869400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:14839200-14859800	Weak transcription	Aorta	Aorta
12	chr5:14840200-14864600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:14844800-14869200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:14848400-14853400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:14848800-14861800	Weak transcription	Adipose Nuclei	Adipose
16	chr5:14848800-14870000	Weak transcription	Thymus	Thymus
17	chr5:14849000-14855000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:14849200-14869800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr5:14850000-14853200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr5:14850000-14853400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr5:14850200-14854800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr5:14850200-14856400	Enhancers	Fetal Intestine Large	intestine
23	chr5:14850400-14861600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:14850400-14861600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:14850600-14861200	Weak transcription	Liver	Liver
26	chr5:14850600-14863000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr5:14850800-14854800	Weak transcription	Esophagus	oesophagus
28	chr5:14850800-14855000	Weak transcription	Lung	lung
29	chr5:14850800-14855000	Weak transcription	Hela-S3	cervix
30	chr5:14850800-14856200	Enhancers	Fetal Intestine Small	intestine
31	chr5:14850800-14861200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr5:14850800-14869000	Weak transcription	Brain Germinal Matrix	brain
33	chr5:14851200-14853200	Enhancers	Right Atrium	heart
34	chr5:14851400-14854800	Weak transcription	Right Ventricle	heart
35	chr5:14851400-14855000	Enhancers	Duodenum Mucosa	Duodenum
36	chr5:14851400-14855200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr5:14851400-14855400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:14851400-14856600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:14851400-14860200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr5:14851400-14861400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:14851400-14863000	Weak transcription	Brain Anterior Caudate	brain
42	chr5:14851400-14863200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr5:14851600-14852800	Weak transcription	Left Ventricle	heart
44	chr5:14851600-14852800	Weak transcription	Psoas Muscle	Psoas
45	chr5:14851600-14855000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr5:14851600-14855000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr5:14851600-14856400	Weak transcription	Osteobl	bone
48	chr5:14851600-14859600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:14851600-14860000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:14851600-14860000	Weak transcription	Pancreas	Pancrea

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