Variant report

Variant	rs7604818
Chromosome Location	chr2:72787937-72787938
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10496185	0.93[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes]
rs11126378	0.93[CEU][hapmap];1.00[GIH][hapmap];0.86[TSI][hapmap]
rs11689339	0.93[CEU][hapmap];1.00[GIH][hapmap];0.86[TSI][hapmap]
rs11689707	0.93[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs11884266	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs11892598	0.93[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes]
rs11897200	1.00[GIH][hapmap]
rs1562361	1.00[GIH][hapmap];0.86[TSI][hapmap]
rs17008208	1.00[GIH][hapmap];0.91[TSI][hapmap]
rs17008241	0.93[CEU][hapmap];0.99[EUR][1000 genomes]
rs17008293	0.93[CEU][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17008315	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs17008371	1.00[GIH][hapmap];0.81[TSI][hapmap]
rs17263172	0.86[YRI][hapmap]
rs57192957	0.84[EUR][1000 genomes]
rs58967293	0.81[EUR][1000 genomes]
rs60325013	0.94[EUR][1000 genomes]
rs60580301	0.81[EUR][1000 genomes]
rs645489	0.81[YRI][hapmap]
rs646357	0.88[YRI][hapmap]
rs6711701	0.96[EUR][1000 genomes]
rs6713143	1.00[GIH][hapmap];0.86[TSI][hapmap]
rs6713712	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs6733532	1.00[GIH][hapmap]
rs6739768	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6740390	0.92[CEU][hapmap]
rs6749495	0.84[EUR][1000 genomes]
rs67535553	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6756070	0.93[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.98[EUR][1000 genomes]
rs6758324	1.00[GIH][hapmap]
rs6758689	1.00[GIH][hapmap]
rs67970313	0.95[EUR][1000 genomes]
rs72845185	0.87[EUR][1000 genomes]
rs7557942	1.00[GIH][hapmap];0.86[TSI][hapmap]
rs7571517	1.00[GIH][hapmap];0.91[TSI][hapmap]
rs7573417	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7575050	1.00[GIH][hapmap]
rs7604083	0.93[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs764766	0.93[CEU][hapmap];1.00[GIH][hapmap];0.86[TSI][hapmap];0.95[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	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv582208	chr2:72690622-72835886	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv834257	chr2:72701083-72853548	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72766800-72788000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:72766800-72788600	Weak transcription	NH-A	brain
3	chr2:72766800-72789200	Weak transcription	NHEK	skin
4	chr2:72775000-72808800	Weak transcription	Ovary	ovary
5	chr2:72777200-72789000	Weak transcription	Brain Angular Gyrus	brain
6	chr2:72781200-72788600	Weak transcription	Brain Anterior Caudate	brain
7	chr2:72781200-72788600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:72781200-72788800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:72781800-72788600	Weak transcription	HSMM	muscle
10	chr2:72781800-72789000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:72781800-72789000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:72781800-72789600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:72782000-72788800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:72783200-72789000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:72783400-72788600	Weak transcription	Aorta	Aorta
16	chr2:72783400-72788600	Weak transcription	HSMMtube	muscle
17	chr2:72783400-72792200	Weak transcription	Left Ventricle	heart
18	chr2:72783600-72788600	Weak transcription	Adipose Nuclei	Adipose
19	chr2:72783600-72788600	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:72783600-72788800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:72783600-72789000	Weak transcription	Fetal Lung	lung
22	chr2:72783600-72789200	Weak transcription	Psoas Muscle	Psoas
23	chr2:72783600-72789600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:72783600-72793600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:72783800-72788600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:72783800-72789600	Weak transcription	Fetal Intestine Large	intestine
27	chr2:72784000-72788600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:72784000-72789400	Weak transcription	HepG2	liver
29	chr2:72784000-72800800	Weak transcription	Placenta	Placenta
30	chr2:72784200-72799600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:72784800-72789200	Weak transcription	Brain Substantia Nigra	brain
32	chr2:72785000-72788600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:72785000-72788600	Weak transcription	NHLF	lung
34	chr2:72785200-72788600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:72785200-72789200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:72785600-72789000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:72786000-72803800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr2:72786800-72789000	Enhancers	Osteobl	bone
39	chr2:72787000-72788000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:72787000-72788800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:72787000-72788800	Enhancers	HUVEC	blood vessel
42	chr2:72787200-72788600	Weak transcription	A549	lung
43	chr2:72787200-72789000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:72787400-72788600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:72787400-72788800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:72787600-72791000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:72787800-72788800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr2:72787800-72789600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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