Variant report

Variant	rs6504743
Chromosome Location	chr17:45218787-45218788
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1102461	0.94[ASN][1000 genomes]
rs11079756	0.90[ASN][1000 genomes]
rs1634269	0.93[ASN][1000 genomes]
rs221596	0.90[ASN][1000 genomes]
rs221603	0.87[ASN][1000 genomes]
rs221604	0.91[ASN][1000 genomes]
rs221605	0.94[ASN][1000 genomes]
rs221607	0.87[ASN][1000 genomes]
rs2678693	0.91[ASN][1000 genomes]
rs6504744	0.96[ASN][1000 genomes]
rs6504745	0.83[AFR][1000 genomes]
rs7208288	0.87[ASN][1000 genomes]
rs8073936	0.94[ASN][1000 genomes]
rs858671	0.82[ASN][1000 genomes]
rs858675	0.94[ASN][1000 genomes]
rs858680	0.91[ASN][1000 genomes]
rs9747171	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv2760450	chr17:45130777-45225222	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv908563	chr17:45158537-45230311	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv1796833	chr17:45212898-45244822	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3343499	chr17:45213674-45219467	ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3365602	chr17:45214397-45234526	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv6742	chr17:45214674-45219295	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv4562	chr17:45215735-45218794	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3436289	chr17:45216074-45219285	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3344303	chr17:45216111-45219329	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3361140	chr17:45216140-45219311	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv8768	chr17:45216176-45219282	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3518725	chr17:45216185-45219268	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv3518726	chr17:45216185-45219268	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv3333962	chr17:45216199-45219268	ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
17	esv4309	chr17:45217226-45220292	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv3334202	chr17:45217342-45219470	ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv960498	chr17:45218734-45237019	Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45194800-45234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr17:45214600-45229200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr17:45214800-45219000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:45214800-45219000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:45214800-45219000	Weak transcription	Right Atrium	heart
6	chr17:45214800-45219000	Weak transcription	Right Ventricle	heart
7	chr17:45214800-45219000	Weak transcription	Small Intestine	intestine
8	chr17:45214800-45234200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr17:45214800-45234200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr17:45215000-45219000	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr17:45215200-45229400	Strong transcription	Brain Germinal Matrix	brain
12	chr17:45215400-45218800	Strong transcription	A549	lung
13	chr17:45216200-45219000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr17:45216200-45219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr17:45216200-45219000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:45216200-45219000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr17:45216200-45219000	Weak transcription	Lung	lung
18	chr17:45216200-45219000	Weak transcription	Ovary	ovary
19	chr17:45216200-45219000	Weak transcription	Thymus	Thymus
20	chr17:45216400-45218800	Weak transcription	Colon Smooth Muscle	Colon
21	chr17:45216400-45219000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr17:45216400-45219000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:45216400-45219000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:45216400-45219000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr17:45216400-45219000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr17:45216400-45219000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:45216400-45219000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr17:45216400-45219000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr17:45216400-45219000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr17:45216400-45219000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr17:45216400-45219000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr17:45216400-45219000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr17:45216400-45219000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr17:45216400-45219000	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr17:45216400-45219000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr17:45216400-45219000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr17:45216400-45219000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr17:45216400-45219000	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr17:45216400-45219000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr17:45216400-45219000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr17:45216400-45219000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr17:45216400-45219000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr17:45216400-45219000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr17:45216400-45219000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr17:45216400-45219000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr17:45216400-45219000	Weak transcription	Aorta	Aorta
47	chr17:45216400-45219000	Weak transcription	Brain Angular Gyrus	brain
48	chr17:45216400-45219000	Weak transcription	Brain Anterior Caudate	brain
49	chr17:45216400-45219000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr17:45216400-45219000	Weak transcription	Brain Hippocampus Middle	brain

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