Variant report

Variant	rs17484460
Chromosome Location	chr2:47363767-47363768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11683925	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1693888	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1693889	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1693892	0.94[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1723485	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs726118	0.84[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs815812	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs949724	0.88[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv457374	chr2:47313624-47448865	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer 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	87 gene(s)	inside rSNPs	diseases
4	nsv581754	chr2:47313624-47448865	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
5	nsv963228	chr2:47360080-47368383	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47346600-47366200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:47347000-47368800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:47348600-47371000	Weak transcription	Thymus	Thymus
4	chr2:47349000-47363800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:47349200-47366200	Weak transcription	NHLF	lung
6	chr2:47355000-47373000	Weak transcription	Fetal Stomach	stomach
7	chr2:47355000-47373200	Weak transcription	Aorta	Aorta
8	chr2:47355200-47367400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:47355400-47370200	Weak transcription	Brain Anterior Caudate	brain
10	chr2:47355400-47373000	Weak transcription	Brain Substantia Nigra	brain
11	chr2:47355600-47377000	Weak transcription	Brain Angular Gyrus	brain
12	chr2:47356800-47365600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:47356800-47371000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:47357000-47366000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:47357000-47371000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:47357000-47372600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:47357000-47372800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:47357000-47385400	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:47357000-47386600	Weak transcription	Fetal Heart	heart
20	chr2:47357000-47386800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:47357200-47366000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:47357200-47376400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:47357200-47376800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:47357200-47386400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:47357400-47366000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:47357400-47385400	Weak transcription	Fetal Intestine Large	intestine
27	chr2:47357600-47367200	Weak transcription	Fetal Intestine Small	intestine
28	chr2:47357600-47371000	Weak transcription	Fetal Kidney	kidney
29	chr2:47357800-47367200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:47360200-47366000	Weak transcription	A549	lung
31	chr2:47360200-47374400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:47360400-47370400	Weak transcription	Fetal Lung	lung
33	chr2:47360600-47386800	Weak transcription	Stomach Mucosa	stomach
34	chr2:47362000-47371000	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:47363200-47366000	Weak transcription	Osteobl	bone
36	chr2:47363400-47366600	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr2:47363400-47386400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr2:47363600-47365600	Strong transcription	HSMM	muscle
39	chr2:47363600-47367600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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