Variant report

Variant	rs4924868
Chromosome Location	chr17:17397512-17397513
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 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	chr17:17288032..17290457-chr17:17396061..17397654,2	MCF-7	breast:
4	chr17:17391389..17393219-chr17:17395298..17398255,3	K562	blood:
5	chr17:17396995..17404908-chr17:17406815..17414609,13	MCF-7	breast:
6	chr17:17262294..17265144-chr17:17396153..17398349,2	MCF-7	breast:
7	chr17:17380261..17384039-chr17:17397347..17401058,7	MCF-7	breast:
8	chr17:17394585..17397525-chr17:17493940..17496244,2	K562	blood:
9	chr17:17338847..17340811-chr17:17396652..17398902,2	MCF-7	breast:
10	chr17:17396999..17399572-chr17:17585740..17587599,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000133027	Chromatin interaction
ENSG00000167702	Chromatin interaction
ENSG00000108557	Chromatin interaction
ENSG00000254578	Chromatin interaction
ENSG00000264666	Chromatin interaction
ENSG00000265511	Chromatin interaction
ENSG00000141026	Chromatin interaction
ENSG00000187954	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11652200	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1242490	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1242493	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1242498	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1242499	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1242500	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1242501	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1242502	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1242503	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1242505	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1242506	0.86[ASN][1000 genomes]
rs1242511	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1242514	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1242515	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1242517	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1242518	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1263507	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1263509	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12938634	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1918249	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2232831	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2660836	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2694920	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2694926	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2694927	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28435349	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4479310	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4646408	0.85[EUR][1000 genomes]
rs4646410	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4924877	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4924890	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4924891	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs711352	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7219976	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7220132	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7220217	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7946	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8074074	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8074191	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17382600-17397800	Weak transcription	Stomach Mucosa	stomach
2	chr17:17384000-17398000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:17386600-17397800	Strong transcription	Fetal Stomach	stomach
4	chr17:17388000-17398600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr17:17388200-17398000	Weak transcription	Small Intestine	intestine
6	chr17:17388200-17398200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr17:17391600-17398600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr17:17391600-17399600	Strong transcription	Dnd41	blood
9	chr17:17391800-17398600	Weak transcription	Fetal Kidney	kidney
10	chr17:17391800-17399800	Weak transcription	K562	blood
11	chr17:17392400-17397800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr17:17393400-17398000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr17:17394800-17397800	Weak transcription	HSMMtube	muscle
14	chr17:17395200-17398000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr17:17395200-17398000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr17:17395400-17398200	Weak transcription	Primary B cells from cord blood	blood
17	chr17:17395600-17397800	Weak transcription	Osteobl	bone
18	chr17:17395600-17398000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr17:17395800-17397800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr17:17395800-17397800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr17:17395800-17398200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr17:17395800-17398200	Weak transcription	Esophagus	oesophagus
23	chr17:17395800-17398600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr17:17396000-17397600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr17:17396000-17397800	Weak transcription	GM12878-XiMat	blood
26	chr17:17396000-17397800	Weak transcription	NHEK	skin
27	chr17:17396000-17398000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr17:17396000-17398400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr17:17396000-17398400	Weak transcription	A549	lung
30	chr17:17396200-17397800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr17:17396200-17397800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr17:17396200-17397800	Weak transcription	Colon Smooth Muscle	Colon
33	chr17:17396200-17397800	Weak transcription	Ovary	ovary
34	chr17:17396200-17397800	Weak transcription	Pancreas	Pancrea
35	chr17:17396200-17398000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr17:17396200-17398000	Weak transcription	Gastric	stomach
37	chr17:17396200-17398000	Weak transcription	Lung	lung
38	chr17:17396200-17398400	Weak transcription	HMEC	breast
39	chr17:17396400-17397600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr17:17396400-17397800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr17:17396400-17397800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr17:17396400-17397800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr17:17396400-17397800	Weak transcription	HUVEC	blood vessel
44	chr17:17396400-17398000	Weak transcription	Primary T cells from cord blood	blood
45	chr17:17396400-17398000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr17:17396400-17398000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr17:17396400-17398400	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr17:17396600-17397800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
49	chr17:17396600-17397800	Weak transcription	Fetal Intestine Large	intestine
50	chr17:17396600-17398000	Enhancers	Skeletal Muscle Female	skeletal muscle

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