Variant report

Variant	rs1708621
Chromosome Location	chr17:17127917-17127918
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	chr17:17126964..17129201-chr17:17139091..17140803,2	MCF-7	breast:
2	chr17:17126262..17128515-chr17:17140252..17142748,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264187	Chromatin interaction
ENSG00000266498	Chromatin interaction
ENSG00000154803	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12453455	0.94[ASN][1000 genomes]
rs12600589	0.93[ASN][1000 genomes]
rs12949822	0.81[ASN][1000 genomes]
rs1630656	0.94[ASN][1000 genomes]
rs1708617	1.00[ASN][1000 genomes]
rs1708624	0.94[ASN][1000 genomes]
rs1736204	0.94[ASN][1000 genomes]
rs1736205	0.94[ASN][1000 genomes]
rs1736208	0.97[ASN][1000 genomes]
rs1736209	0.97[ASN][1000 genomes]
rs1736211	1.00[ASN][1000 genomes]
rs1736212	1.00[ASN][1000 genomes]
rs1736216	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1736217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1736218	0.83[ASN][1000 genomes]
rs1736221	0.99[ASN][1000 genomes]
rs2012954	0.92[ASN][1000 genomes]
rs2018781	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2292527	0.96[ASN][1000 genomes]
rs2472689	0.87[ASN][1000 genomes]
rs36079048	0.96[ASN][1000 genomes]
rs3866959	0.94[ASN][1000 genomes]
rs4985760	0.94[ASN][1000 genomes]
rs62066066	0.81[ASN][1000 genomes]
rs6502564	0.88[ASN][1000 genomes]
rs6502568	0.94[ASN][1000 genomes]
rs6502569	0.94[ASN][1000 genomes]
rs6502570	0.92[ASN][1000 genomes]
rs6502571	0.80[ASN][1000 genomes]
rs7220577	0.94[ASN][1000 genomes]
rs7221553	0.92[ASN][1000 genomes]
rs7224598	0.93[ASN][1000 genomes]
rs7225876	0.94[ASN][1000 genomes]
rs8066090	0.94[ASN][1000 genomes]
rs8080386	0.99[ASN][1000 genomes]
rs9892352	0.94[ASN][1000 genomes]
rs9894565	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065811	chr17:17104760-17225204	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr17:17109400-17131600	Weak transcription	Fetal Heart	heart
2	chr17:17113200-17135200	Strong transcription	Fetal Intestine Small	intestine
3	chr17:17113200-17136600	Strong transcription	Fetal Stomach	stomach
4	chr17:17113400-17131400	Strong transcription	Brain Anterior Caudate	brain
5	chr17:17113400-17131400	Strong transcription	Brain Substantia Nigra	brain
6	chr17:17113400-17134600	Strong transcription	Fetal Muscle Trunk	muscle
7	chr17:17113400-17136200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr17:17113800-17134600	Strong transcription	Fetal Muscle Leg	muscle
9	chr17:17113800-17137600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr17:17114000-17131200	Strong transcription	Liver	Liver
11	chr17:17114000-17131200	Strong transcription	Left Ventricle	heart
12	chr17:17114000-17134800	Strong transcription	Fetal Intestine Large	intestine
13	chr17:17114000-17135200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr17:17114000-17136200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr17:17114000-17136200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr17:17114000-17136400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr17:17114000-17136400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:17114000-17136400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr17:17114000-17136400	Strong transcription	Placenta	Placenta
20	chr17:17114000-17136600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr17:17114200-17131600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr17:17114200-17131600	Strong transcription	Spleen	Spleen
23	chr17:17114200-17136600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr17:17114400-17131400	Strong transcription	Lung	lung
25	chr17:17114400-17136200	Strong transcription	Primary T cells from cord blood	blood
26	chr17:17114400-17136200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr17:17114400-17136400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr17:17114400-17136600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr17:17114600-17134800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr17:17114600-17136000	Strong transcription	Fetal Brain Female	brain
31	chr17:17114600-17136200	Strong transcription	NHLF	lung
32	chr17:17114600-17136400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr17:17114600-17136400	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr17:17114600-17136400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr17:17114600-17136400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr17:17114600-17136400	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr17:17114600-17136400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr17:17114600-17136600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr17:17114800-17131800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr17:17114800-17136400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr17:17114800-17136400	Strong transcription	Osteobl	bone
42	chr17:17115000-17136200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr17:17115000-17136200	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr17:17115200-17139600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr17:17115400-17136200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr17:17115600-17130600	Strong transcription	NH-A	brain
47	chr17:17115600-17136400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr17:17115800-17131200	Strong transcription	Brain Hippocampus Middle	brain
49	chr17:17115800-17131400	Strong transcription	Brain Angular Gyrus	brain
50	chr17:17115800-17136000	Strong transcription	Sigmoid Colon	Sigmoid Colon

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