Variant report

Variant	rs8078252
Chromosome Location	chr17:17802669-17802670
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17742976..17745476-chr17:17800458..17803422,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16960751	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925124	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4925128	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58066258	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58957900	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59334660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61169324	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs61657399	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7214028	0.82[ASW][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73299885	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73979209	0.82[ASN][1000 genomes]
rs8066528	0.82[JPT][hapmap]
rs8078368	0.82[JPT][hapmap]
rs8078811	0.82[JPT][hapmap]
rs9890341	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
4	nsv1061126	chr17:17578826-17803194	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv543238	chr17:17578826-17803194	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1058884	chr17:17594370-17803194	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv543240	chr17:17594370-17803194	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription 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 miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
8	nsv1064176	chr17:17596222-17803194	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
9	nsv543242	chr17:17596222-17803194	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
10	nsv1059949	chr17:17632590-17803194	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
11	nsv543244	chr17:17632590-17803194	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
12	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
13	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
14	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
15	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17764200-17803000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr17:17767600-17807400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:17769200-17804600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr17:17776400-17803200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:17781600-17810600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr17:17782200-17803800	Weak transcription	Stomach Mucosa	stomach
7	chr17:17782200-17817000	Weak transcription	Fetal Kidney	kidney
8	chr17:17783000-17808200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr17:17790200-17803800	Strong transcription	Fetal Intestine Small	intestine
10	chr17:17790600-17802800	Weak transcription	Right Atrium	heart
11	chr17:17791000-17803000	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr17:17792600-17802800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr17:17792600-17803600	Weak transcription	HUVEC	blood vessel
14	chr17:17792600-17803800	Strong transcription	Fetal Stomach	stomach
15	chr17:17793000-17803800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr17:17793000-17817200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr17:17794200-17802800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr17:17794600-17803200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr17:17794600-17803200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr17:17794800-17803200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr17:17795000-17802800	Strong transcription	Brain Hippocampus Middle	brain
22	chr17:17795000-17806400	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr17:17795600-17804600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr17:17795800-17803000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr17:17796000-17802800	Strong transcription	Fetal Lung	lung
26	chr17:17796000-17802800	Strong transcription	Osteobl	bone
27	chr17:17796000-17803200	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr17:17796200-17802800	Strong transcription	HSMM	muscle
29	chr17:17796200-17803000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr17:17796200-17803000	Strong transcription	Colonic Mucosa	Colon
31	chr17:17796600-17802800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr17:17796600-17805000	Strong transcription	Primary T cells from cord blood	blood
33	chr17:17797000-17817000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr17:17797600-17822400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr17:17797800-17803800	Weak transcription	Fetal Brain Male	brain
36	chr17:17799400-17803200	Strong transcription	Colon Smooth Muscle	Colon
37	chr17:17799400-17803800	Weak transcription	NH-A	brain
38	chr17:17799800-17802800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr17:17800200-17804200	Weak transcription	Fetal Thymus	thymus
40	chr17:17800400-17803000	Weak transcription	Ovary	ovary
41	chr17:17800400-17803800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr17:17800400-17803800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr17:17800400-17803800	Weak transcription	Pancreas	Pancrea
44	chr17:17800400-17804000	Weak transcription	Aorta	Aorta
45	chr17:17800400-17804000	Weak transcription	Brain Angular Gyrus	brain
46	chr17:17800400-17804000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr17:17800400-17804000	Weak transcription	Right Ventricle	heart
48	chr17:17800400-17804800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr17:17800600-17803800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr17:17800600-17803800	Weak transcription	Brain Substantia Nigra	brain

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