Variant report

Variant	rs17106607
Chromosome Location	chr5:146763729-146763730
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10515582	0.83[CHD][hapmap];0.84[ASN][1000 genomes]
rs10515583	0.92[ASN][1000 genomes]
rs11167988	0.85[ASN][1000 genomes]
rs11167989	0.86[CHD][hapmap];0.94[ASN][1000 genomes]
rs12513884	0.94[ASN][1000 genomes]
rs12514302	0.88[ASN][1000 genomes]
rs1432837	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.93[YRI][hapmap]
rs1432838	0.86[CHD][hapmap];0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1432839	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1544816	0.81[ASN][1000 genomes]
rs17106473	0.84[LWK][hapmap]
rs17106560	0.91[ASN][1000 genomes]
rs17106572	0.86[CHD][hapmap];0.93[ASN][1000 genomes]
rs17106575	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17106590	0.94[ASN][1000 genomes]
rs17106592	0.94[ASN][1000 genomes]
rs17106597	0.94[ASN][1000 genomes]
rs17106606	1.00[ASN][1000 genomes]
rs2288805	0.82[ASN][1000 genomes]
rs2304047	0.82[ASN][1000 genomes]
rs2895681	0.94[ASN][1000 genomes]
rs3749721	0.86[CHD][hapmap];0.92[ASN][1000 genomes]
rs3792837	0.86[CHD][hapmap]
rs3805533	0.83[CHD][hapmap];0.92[ASN][1000 genomes]
rs3805534	0.87[ASN][1000 genomes]
rs3805535	0.86[ASN][1000 genomes]
rs4642416	0.94[ASN][1000 genomes]
rs61405762	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6580462	0.94[YRI][hapmap]
rs73262265	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7714240	0.86[CHD][hapmap];0.96[LWK][hapmap];0.95[MKK][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs918796	0.88[LWK][hapmap]
rs972302	0.88[CHD][hapmap];0.94[ASN][1000 genomes]

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	nsv1015804	chr5:146066000-146788233	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv537915	chr5:146066000-146788233	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv519847	chr5:146166378-146812647	Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv599938	chr5:146169511-146806365	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv869238	chr5:146179403-146787986	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146750000-146766200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:146761800-146765800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:146762200-146764000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:146762200-146764800	Active TSS	Ovary	ovary
5	chr5:146762400-146764400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:146762400-146766200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:146762600-146764000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:146762600-146766000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr5:146762800-146764600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:146762800-146767600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:146762800-146767600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:146762800-146767600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:146762800-146767600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:146762800-146767800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:146762800-146770400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:146762800-146770400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:146762800-146770400	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:146762800-146770600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:146762800-146770600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:146762800-146770600	Weak transcription	Fetal Stomach	stomach
21	chr5:146762800-146771000	Weak transcription	NHLF	lung
22	chr5:146762800-146772200	Weak transcription	Adipose Nuclei	Adipose
23	chr5:146762800-146772200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:146762800-146772600	Weak transcription	Aorta	Aorta
25	chr5:146762800-146773200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr5:146762800-146773800	Weak transcription	Osteobl	bone
27	chr5:146762800-146775600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:146762800-146775600	Weak transcription	Placenta	Placenta
29	chr5:146762800-146775600	Weak transcription	Left Ventricle	heart
30	chr5:146762800-146775600	Weak transcription	Right Ventricle	heart
31	chr5:146762800-146783400	Weak transcription	Pancreas	Pancrea
32	chr5:146762800-146784200	Weak transcription	Colonic Mucosa	Colon
33	chr5:146763000-146764000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr5:146763000-146764000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr5:146763000-146764000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:146763000-146764200	Weak transcription	Colon Smooth Muscle	Colon
37	chr5:146763000-146767200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr5:146763000-146767400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:146763000-146767600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr5:146763000-146767800	Weak transcription	Brain Hippocampus Middle	brain
41	chr5:146763000-146768000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr5:146763000-146770400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr5:146763000-146770800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:146763000-146771200	Weak transcription	NHDF-Ad	bronchial
45	chr5:146763000-146772600	Weak transcription	Brain Anterior Caudate	brain
46	chr5:146763000-146775000	Weak transcription	Fetal Intestine Small	intestine
47	chr5:146763000-146775200	Weak transcription	Right Atrium	heart
48	chr5:146763200-146764000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr5:146763200-146770600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr5:146763400-146763800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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