Variant report

Variant	rs17128098
Chromosome Location	chr1:86167105-86167106
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86162153..86164641-chr1:86165348..86167179,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs17127904	1.00[AFR][1000 genomes]
rs17127933	1.00[AFR][1000 genomes]
rs17127978	1.00[AFR][1000 genomes]
rs17127983	1.00[AFR][1000 genomes]
rs17127986	1.00[AFR][1000 genomes]
rs17127994	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17128015	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128025	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128031	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128041	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128046	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128058	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128059	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128061	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128070	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128074	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17128075	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128078	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128084	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128109	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128114	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128165	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128173	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128176	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128181	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128216	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128220	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128234	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128240	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128242	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128243	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128249	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128271	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128273	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128279	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128284	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128287	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128290	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128302	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17395346	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6672587	1.00[AFR][1000 genomes]
rs9658588	1.00[AFR][1000 genomes]
rs9658592	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv871471	chr1:86143084-86211516	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 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	chr1:86103400-86173000	Weak transcription	Pancreas	Pancrea
2	chr1:86103600-86172600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:86103600-86172600	Weak transcription	Gastric	stomach
4	chr1:86115200-86167600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:86117600-86172000	Weak transcription	Small Intestine	intestine
6	chr1:86119600-86172000	Weak transcription	Colonic Mucosa	Colon
7	chr1:86119800-86171800	Weak transcription	Fetal Brain Male	brain
8	chr1:86134200-86172600	Weak transcription	Right Ventricle	heart
9	chr1:86134600-86172400	Weak transcription	Stomach Mucosa	stomach
10	chr1:86135200-86171200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:86135600-86172000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:86141600-86171800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:86142400-86170600	Weak transcription	Brain Germinal Matrix	brain
14	chr1:86142600-86170800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:86142600-86171000	Weak transcription	Brain Substantia Nigra	brain
16	chr1:86142600-86172600	Weak transcription	Thymus	Thymus
17	chr1:86142600-86172600	Weak transcription	Spleen	Spleen
18	chr1:86144200-86168200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:86144400-86167600	Weak transcription	Fetal Lung	lung
20	chr1:86144400-86170400	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:86146000-86170600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:86147000-86172600	Weak transcription	Brain Angular Gyrus	brain
23	chr1:86147200-86169400	Weak transcription	Brain Anterior Caudate	brain
24	chr1:86147200-86172000	Weak transcription	Fetal Kidney	kidney
25	chr1:86147200-86172600	Weak transcription	Psoas Muscle	Psoas
26	chr1:86147200-86172800	Weak transcription	Aorta	Aorta
27	chr1:86155400-86171800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:86157800-86172600	Weak transcription	Fetal Intestine Small	intestine
29	chr1:86157800-86173000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:86158000-86167400	Weak transcription	Ovary	ovary
31	chr1:86158000-86170600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:86158000-86173000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:86158400-86169600	Weak transcription	Hela-S3	cervix
34	chr1:86158600-86167400	Weak transcription	NHEK	skin
35	chr1:86159000-86167400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:86162000-86171800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:86162400-86171600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr1:86162800-86169600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:86163000-86172000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:86163200-86169200	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr1:86163200-86171400	Strong transcription	Primary B cells from cord blood	blood
42	chr1:86163200-86172000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:86163200-86172200	Strong transcription	HSMM	muscle
44	chr1:86163400-86168400	Strong transcription	Dnd41	blood
45	chr1:86163400-86169400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:86163400-86169600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:86163400-86171600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:86163600-86171200	Strong transcription	Primary hematopoietic stem cells	blood
49	chr1:86163600-86172000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:86163800-86169000	Strong transcription	GM12878-XiMat	blood

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