Variant report

Variant	rs73978937
Chromosome Location	chr17:17396518-17396519
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17395467..17398151-chr8:145688919..145691543,2	MCF-7	breast:
2	chr17:17379236..17381999-chr17:17395224..17401626,6	MCF-7	breast:
3	chr17:17389044..17391097-chr17:17393981..17396776,2	MCF-7	breast:
4	chr17:17379155..17381711-chr17:17395124..17397164,2	MCF-7	breast:
5	chr17:17288032..17290457-chr17:17396061..17397654,2	MCF-7	breast:
6	chr17:17391389..17393219-chr17:17395298..17398255,3	K562	blood:
7	chr17:17262294..17265144-chr17:17396153..17398349,2	MCF-7	breast:
8	chr17:17380262..17386605-chr17:17392311..17397391,9	K562	blood:
9	chr17:17394585..17397525-chr17:17493940..17496244,2	K562	blood:
10	chr17:17290815..17292388-chr17:17395387..17396915,2	MCF-7	breast:
11	chr17:17394182..17397253-chr17:17397708..17401018,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108551	Chromatin interaction
ENSG00000141026	Chromatin interaction
ENSG00000187954	Chromatin interaction
ENSG00000254578	Chromatin interaction
ENSG00000264666	Chromatin interaction
ENSG00000133027	Chromatin interaction
ENSG00000167702	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]
rs59469334	1.00[AFR][1000 genomes]
rs73978927	0.93[AFR][1000 genomes]
rs73978928	1.00[AFR][1000 genomes]
rs73978932	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17381200-17397000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:17381400-17397000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr17:17381800-17397200	Weak transcription	NH-A	brain
4	chr17:17382600-17397800	Weak transcription	Stomach Mucosa	stomach
5	chr17:17384000-17398000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr17:17384600-17396800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr17:17386600-17397400	Strong transcription	Fetal Intestine Small	intestine
8	chr17:17386600-17397800	Strong transcription	Fetal Stomach	stomach
9	chr17:17388000-17398600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr17:17388200-17396600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:17388200-17398000	Weak transcription	Small Intestine	intestine
12	chr17:17388200-17398200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr17:17389200-17397000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr17:17390200-17397000	Weak transcription	Psoas Muscle	Psoas
15	chr17:17390800-17396600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:17390800-17397400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr17:17391200-17396800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:17391400-17397200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:17391600-17398600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr17:17391600-17399600	Strong transcription	Dnd41	blood
21	chr17:17391800-17397000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr17:17391800-17397000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr17:17391800-17397200	Weak transcription	Brain Angular Gyrus	brain
24	chr17:17391800-17398600	Weak transcription	Fetal Kidney	kidney
25	chr17:17391800-17399800	Weak transcription	K562	blood
26	chr17:17392200-17397000	Genic enhancers	Fetal Muscle Leg	muscle
27	chr17:17392400-17397800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr17:17393400-17398000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr17:17393600-17397400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr17:17393800-17396600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr17:17393800-17396600	Strong transcription	Fetal Intestine Large	intestine
32	chr17:17394000-17396600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr17:17394000-17397000	Strong transcription	NHLF	lung
34	chr17:17394000-17397400	Strong transcription	Thymus	Thymus
35	chr17:17394200-17397000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr17:17394200-17397000	Genic enhancers	Fetal Thymus	thymus
37	chr17:17394400-17396800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr17:17394400-17396800	Strong transcription	Aorta	Aorta
39	chr17:17394400-17396800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr17:17394400-17397200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr17:17394600-17396800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
42	chr17:17394600-17396800	Strong transcription	HepG2	liver
43	chr17:17394600-17397400	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr17:17394800-17396600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr17:17394800-17397400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr17:17394800-17397800	Weak transcription	HSMMtube	muscle
47	chr17:17395200-17396800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr17:17395200-17398000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr17:17395200-17398000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr17:17395400-17397200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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