Variant report

Variant	rs59948477
Chromosome Location	chr17:17819094-17819095
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17740122..17741904-chr17:17816670..17819447,2	MCF-7	breast:
2	chr17:17655153..17657409-chr17:17817589..17820356,2	K562	blood:
3	chr17:17817435..17819884-chr17:17820293..17824175,3	MCF-7	breast:
4	chr17:17815608..17820314-chr17:17821294..17824866,4	MCF-7	breast:
5	chr17:17739755..17742304-chr17:17816407..17819367,2	MCF-7	breast:
6	chr17:17743541..17745850-chr17:17817426..17819910,2	K562	blood:
7	chr17:17740288..17743165-chr17:17817530..17819462,2	K562	blood:

Variant related genes	Relation type
ENSG00000072310	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs56790053	0.83[AFR][1000 genomes]
rs60387072	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299834	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299839	1.00[AMR][1000 genomes]
rs73299846	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299887	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301842	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301851	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301854	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301865	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301873	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301880	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303830	0.90[AFR][1000 genomes]
rs73303831	0.90[AFR][1000 genomes]
rs73303840	0.85[AFR][1000 genomes]
rs8066353	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8070462	0.84[AFR][1000 genomes]
rs8077514	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8080949	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
5	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
6	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
7	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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17797600-17822400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr17:17802600-17820000	Weak transcription	Primary B cells from cord blood	blood
3	chr17:17802600-17822400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr17:17810600-17822800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr17:17810800-17838400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr17:17811400-17838400	Weak transcription	Primary T cells from cord blood	blood
7	chr17:17814800-17822400	Weak transcription	Fetal Brain Male	brain
8	chr17:17814800-17833200	Weak transcription	Aorta	Aorta
9	chr17:17815000-17822400	Weak transcription	Liver	Liver
10	chr17:17817000-17819200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr17:17817600-17831600	Weak transcription	Fetal Brain Female	brain
12	chr17:17817800-17819800	Weak transcription	Pancreas	Pancrea
13	chr17:17817800-17821800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr17:17817800-17822200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr17:17817800-17822400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr17:17817800-17822400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr17:17817800-17822400	Weak transcription	GM12878-XiMat	blood
18	chr17:17817800-17823000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:17817800-17824400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr17:17817800-17824400	Weak transcription	Ovary	ovary
21	chr17:17817800-17838200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr17:17818000-17819800	Weak transcription	Lung	lung
23	chr17:17818000-17821600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr17:17818000-17821800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr17:17818000-17821800	Weak transcription	Fetal Heart	heart
26	chr17:17818000-17821800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr17:17818000-17822000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr17:17818000-17822000	Weak transcription	Left Ventricle	heart
29	chr17:17818000-17822000	Weak transcription	K562	blood
30	chr17:17818000-17822200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr17:17818000-17822200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr17:17818000-17822200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr17:17818000-17822200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr17:17818000-17822200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr17:17818000-17822200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr17:17818000-17822200	Weak transcription	Fetal Stomach	stomach
37	chr17:17818000-17822200	Weak transcription	Right Atrium	heart
38	chr17:17818000-17822200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr17:17818000-17822200	Weak transcription	HepG2	liver
40	chr17:17818000-17822400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr17:17818000-17822400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr17:17818000-17822400	Weak transcription	Colonic Mucosa	Colon
43	chr17:17818000-17822400	Weak transcription	Psoas Muscle	Psoas
44	chr17:17818000-17822400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr17:17818000-17822400	Weak transcription	Stomach Mucosa	stomach
46	chr17:17818000-17822400	Weak transcription	Dnd41	blood
47	chr17:17818000-17822400	Weak transcription	HUVEC	blood vessel
48	chr17:17818000-17822400	Weak transcription	NH-A	brain
49	chr17:17818000-17822400	Weak transcription	Osteobl	bone
50	chr17:17818000-17822800	Weak transcription	Primary monocytes fromperipheralblood	blood

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