Variant report

Variant	rs8071243
Chromosome Location	chr17:45217376-45217377
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1106950	0.95[CEU][hapmap]
rs11653589	0.83[JPT][hapmap]
rs1476498	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1634265	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1713493	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3851792	0.83[JPT][hapmap]
rs8068715	0.83[JPT][hapmap]
rs858670	0.95[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap];0.90[ASN][1000 genomes]
rs858677	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs858678	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs867859	0.94[CEU][hapmap]
rs908359	0.86[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	nsv962405	chr17:45214587-45218734	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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

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	chr17:45210400-45218600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr17:45214600-45229200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr17:45214800-45218400	Strong transcription	Fetal Intestine Large	intestine
5	chr17:45214800-45219000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr17:45214800-45219000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:45214800-45219000	Weak transcription	Right Atrium	heart
8	chr17:45214800-45219000	Weak transcription	Right Ventricle	heart
9	chr17:45214800-45219000	Weak transcription	Small Intestine	intestine
10	chr17:45214800-45234200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:45214800-45234200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr17:45215000-45219000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr17:45215200-45229400	Strong transcription	Brain Germinal Matrix	brain
14	chr17:45215400-45218800	Strong transcription	A549	lung
15	chr17:45215800-45218600	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr17:45216200-45219000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr17:45216200-45219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:45216200-45219000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr17:45216200-45219000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr17:45216200-45219000	Weak transcription	Lung	lung
21	chr17:45216200-45219000	Weak transcription	Ovary	ovary
22	chr17:45216200-45219000	Weak transcription	Thymus	Thymus
23	chr17:45216400-45217400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr17:45216400-45217400	Weak transcription	Primary B cells from cord blood	blood
25	chr17:45216400-45217400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr17:45216400-45217400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:45216400-45217400	Weak transcription	Adipose Nuclei	Adipose
28	chr17:45216400-45217400	Weak transcription	HMEC	breast
29	chr17:45216400-45217600	Weak transcription	Primary T cells from cord blood	blood
30	chr17:45216400-45217600	Weak transcription	Fetal Kidney	kidney
31	chr17:45216400-45217600	Weak transcription	K562	blood
32	chr17:45216400-45218000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr17:45216400-45218200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr17:45216400-45218600	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr17:45216400-45218600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr17:45216400-45218600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr17:45216400-45218600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr17:45216400-45218600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr17:45216400-45218800	Weak transcription	Colon Smooth Muscle	Colon
40	chr17:45216400-45219000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr17:45216400-45219000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr17:45216400-45219000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr17:45216400-45219000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr17:45216400-45219000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr17:45216400-45219000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr17:45216400-45219000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr17:45216400-45219000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr17:45216400-45219000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr17:45216400-45219000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr17:45216400-45219000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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