Variant report

Variant	rs1404478
Chromosome Location	chr7:83638702-83638703
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10239684	0.82[JPT][hapmap]
rs10250165	0.82[EUR][1000 genomes]
rs10250543	0.81[EUR][1000 genomes]
rs10253563	0.81[EUR][1000 genomes]
rs10253580	0.81[EUR][1000 genomes]
rs10261519	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10499878	1.00[CEU][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11978893	0.82[EUR][1000 genomes]
rs11979659	0.82[EUR][1000 genomes]
rs13232278	0.85[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13241380	0.83[EUR][1000 genomes]
rs1404477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1404479	0.83[EUR][1000 genomes]
rs1404480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030679	0.82[EUR][1000 genomes]
rs2527031	0.86[JPT][hapmap]
rs34654986	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3735513	0.82[EUR][1000 genomes]
rs3735514	0.82[EUR][1000 genomes]
rs3735515	0.82[EUR][1000 genomes]
rs3801597	0.82[EUR][1000 genomes]
rs3801598	0.82[EUR][1000 genomes]
rs3801599	0.82[EUR][1000 genomes]
rs3801600	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs3801601	0.82[EUR][1000 genomes]
rs3801602	0.82[EUR][1000 genomes]
rs3801603	0.81[EUR][1000 genomes]
rs6944512	0.82[EUR][1000 genomes]
rs6952700	0.81[EUR][1000 genomes]
rs6959932	0.81[EUR][1000 genomes]
rs6965585	0.82[EUR][1000 genomes]
rs6976382	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6977169	0.81[EUR][1000 genomes]
rs6978182	0.82[EUR][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	nsv607707	chr7:83381032-83646816	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1020784	chr7:83577402-83687108	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv888623	chr7:83596683-83687622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv888624	chr7:83596683-83698177	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv888625	chr7:83616528-83687622	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3352967	chr7:83626144-83684599	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83589000-83654600	Weak transcription	Fetal Stomach	stomach
2	chr7:83591200-83654600	Weak transcription	Fetal Muscle Leg	muscle
3	chr7:83606000-83654000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:83606200-83643200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:83609800-83650400	Weak transcription	NHLF	lung
6	chr7:83610200-83642200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:83610200-83673000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:83622800-83643200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr7:83624400-83651600	Weak transcription	Fetal Intestine Small	intestine
10	chr7:83625000-83646800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:83625600-83643600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:83626000-83650600	Weak transcription	NH-A	brain
13	chr7:83626800-83638800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:83629400-83643600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:83632600-83642400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:83632800-83642200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:83634800-83646200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:83634800-83652000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:83634800-83654600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:83635000-83638800	Weak transcription	Fetal Lung	lung
21	chr7:83635000-83654400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:83635200-83640600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:83635200-83651400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr7:83635400-83650800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:83636200-83654800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:83636800-83646800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:83637000-83640000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:83637800-83638800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:83638000-83639600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr7:83638200-83638800	Weak transcription	NHDF-Ad	bronchial
31	chr7:83638200-83639400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:83638200-83639600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:83638400-83639000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:83638400-83639200	Enhancers	Osteobl	bone
35	chr7:83638600-83638800	Enhancers	A549	lung
36	chr7:83638600-83639000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:83638600-83640200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:83638600-83652000	Weak transcription	Colon Smooth Muscle	Colon

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