Variant report

Variant	rs314373
Chromosome Location	chr7:100456595-100456596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12666989	1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12667888	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12705089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705091	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12705092	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12705095	1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12705096	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13226502	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13226864	0.84[EUR][1000 genomes]
rs13244629	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13245899	1.00[YRI][hapmap]
rs17880573	1.00[YRI][hapmap]
rs17881696	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17883557	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17884589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs221005	1.00[CHB][hapmap]
rs314308	1.00[CHB][hapmap]
rs314311	1.00[CHB][hapmap]
rs314316	1.00[CHB][hapmap]
rs314324	0.84[ASN][1000 genomes]
rs314346	1.00[CHB][hapmap]
rs314361	1.00[CHB][hapmap]
rs314370	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757868	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6706	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
10	nsv888798	chr7:100406144-100472826	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
11	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
12	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
13	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
14	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
15	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs314373	ACHE	cis	Nerve Tibial	GTEx
rs314373	ACHE	cis	Artery Tibial	GTEx
rs314373	ACHE	cis	Artery Aorta	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100451000-100458200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:100451000-100461200	Weak transcription	Stomach Mucosa	stomach
3	chr7:100451000-100463200	Weak transcription	HSMMtube	muscle
4	chr7:100451000-100464200	Weak transcription	Left Ventricle	heart
5	chr7:100451000-100464200	Weak transcription	Small Intestine	intestine
6	chr7:100451000-100464400	Weak transcription	Fetal Kidney	kidney
7	chr7:100451200-100456800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr7:100451200-100456800	Weak transcription	Brain Angular Gyrus	brain
9	chr7:100451200-100457400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:100451200-100457600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:100451200-100457600	Weak transcription	Right Ventricle	heart
12	chr7:100451200-100457800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:100451200-100457800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:100451200-100457800	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:100451200-100457800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:100451200-100457800	Weak transcription	Osteobl	bone
17	chr7:100451200-100458200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:100451200-100458200	Weak transcription	HUVEC	blood vessel
19	chr7:100451200-100460200	Weak transcription	HepG2	liver
20	chr7:100451200-100460400	Weak transcription	Liver	Liver
21	chr7:100451200-100460800	Weak transcription	NH-A	brain
22	chr7:100451200-100461200	Weak transcription	HSMM	muscle
23	chr7:100451200-100463200	Weak transcription	A549	lung
24	chr7:100451200-100463200	Weak transcription	Hela-S3	cervix
25	chr7:100451200-100463200	Weak transcription	NHDF-Ad	bronchial
26	chr7:100451200-100463800	Weak transcription	Right Atrium	heart
27	chr7:100451200-100464200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:100451400-100457400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:100451400-100457600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr7:100451400-100457600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:100451400-100457600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:100451400-100457600	Weak transcription	HMEC	breast
33	chr7:100451400-100457800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr7:100451400-100464200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:100451600-100461200	Strong transcription	Fetal Intestine Small	intestine
36	chr7:100451800-100458000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr7:100451800-100462800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:100451800-100464200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:100452000-100456800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:100452000-100457200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr7:100452000-100457600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr7:100452000-100458000	Weak transcription	K562	blood
43	chr7:100452000-100463400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:100452000-100463600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:100452200-100461600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:100452200-100463000	Strong transcription	Lung	lung
47	chr7:100452200-100463400	Strong transcription	Fetal Stomach	stomach
48	chr7:100452200-100463600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:100452400-100457400	Weak transcription	Dnd41	blood
50	chr7:100452400-100461800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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