Variant report

Variant	rs59469334
Chromosome Location	chr17:17394965-17394966
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17389044..17391097-chr17:17393981..17396776,2	MCF-7	breast:
2	chr17:17393460..17395575-chr17:17398622..17401130,3	K562	blood:
3	chr17:17380272..17389088-chr17:17391260..17395887,13	K562	blood:
4	chr17:17380262..17386605-chr17:17392311..17397391,9	K562	blood:
5	chr17:17394585..17397525-chr17:17493940..17496244,2	K562	blood:
6	chr17:17394182..17397253-chr17:17397708..17401018,3	K562	blood:

Variant related genes	Relation type
ENSG00000141026	Chromatin interaction
ENSG00000108551	Chromatin interaction
ENSG00000264666	Chromatin interaction
ENSG00000133027	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs55851503	0.96[AFR][1000 genomes]
rs55888211	0.93[AFR][1000 genomes]
rs56170742	1.00[AFR][1000 genomes]
rs58205065	1.00[AFR][1000 genomes]
rs58925282	1.00[AFR][1000 genomes]
rs73978927	0.93[AFR][1000 genomes]
rs73978928	1.00[AFR][1000 genomes]
rs73978932	1.00[AFR][1000 genomes]
rs73978937	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv907729	chr17:17338536-17425279	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv907730	chr17:17358004-17415217	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv907732	chr17:17381764-17415217	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv907733	chr17:17381764-17422608	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv907734	chr17:17381764-17425858	Enhancers Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv907735	chr17:17381764-17448589	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv907736	chr17:17381764-17465458	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv907737	chr17:17388167-17411030	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr17:17381200-17395400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:17381200-17397000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:17381400-17397000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr17:17381800-17396200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr17:17381800-17397200	Weak transcription	NH-A	brain
6	chr17:17382400-17396400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr17:17382600-17397800	Weak transcription	Stomach Mucosa	stomach
8	chr17:17384000-17398000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr17:17384600-17396800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr17:17386600-17396400	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr17:17386600-17397400	Strong transcription	Fetal Intestine Small	intestine
12	chr17:17386600-17397800	Strong transcription	Fetal Stomach	stomach
13	chr17:17388000-17398600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr17:17388200-17396400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr17:17388200-17396400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr17:17388200-17396600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr17:17388200-17398000	Weak transcription	Small Intestine	intestine
18	chr17:17388200-17398200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr17:17389200-17397000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr17:17390200-17397000	Weak transcription	Psoas Muscle	Psoas
21	chr17:17390600-17395800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr17:17390800-17395600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr17:17390800-17395800	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr17:17390800-17396400	Strong transcription	Duodenum Mucosa	Duodenum
25	chr17:17390800-17396600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:17390800-17397400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:17391000-17395400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr17:17391000-17396000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr17:17391000-17396400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr17:17391000-17396400	Strong transcription	Primary T cells from cord blood	blood
31	chr17:17391000-17396400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr17:17391000-17396400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr17:17391000-17396400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr17:17391200-17396000	Strong transcription	Hela-S3	cervix
35	chr17:17391200-17396800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr17:17391400-17395400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr17:17391400-17397200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr17:17391600-17395600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr17:17391600-17398600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr17:17391600-17399600	Strong transcription	Dnd41	blood
41	chr17:17391800-17395000	Weak transcription	Primary B cells from cord blood	blood
42	chr17:17391800-17395200	Weak transcription	Brain Substantia Nigra	brain
43	chr17:17391800-17395600	Weak transcription	HMEC	breast
44	chr17:17391800-17395600	Weak transcription	HSMM	muscle
45	chr17:17391800-17395600	Weak transcription	NHDF-Ad	bronchial
46	chr17:17391800-17397000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr17:17391800-17397000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr17:17391800-17397200	Weak transcription	Brain Angular Gyrus	brain
49	chr17:17391800-17398600	Weak transcription	Fetal Kidney	kidney
50	chr17:17391800-17399800	Weak transcription	K562	blood

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