Variant report

Variant	rs57173242
Chromosome Location	chr2:171898070-171898071
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171896308..171898201-chr2:171899378..171901872,2	MCF-7	breast:
2	chr2:171893514..171896240-chr2:171897106..171902330,7	K562	blood:
3	chr2:171889760..171896240-chr2:171897516..171901220,6	K562	blood:
4	chr2:171897681..171899471-chr2:172015493..172017721,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198586	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10490606	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16823191	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16859087	0.84[AFR][1000 genomes]
rs16859121	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16859137	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16859167	0.81[AMR][1000 genomes]
rs16859176	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2356609	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2723250	0.81[AMR][1000 genomes]
rs2883940	0.85[AFR][1000 genomes]
rs55644524	0.89[AFR][1000 genomes]
rs55885449	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs55939429	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs55995602	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs55997598	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs56004444	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs56155601	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs56191582	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs56308745	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs56934523	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs57733560	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs58028937	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs58307585	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58685348	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs60396936	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6736045	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6746133	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6750585	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs73013435	0.81[AMR][1000 genomes]
rs73013436	0.81[AMR][1000 genomes]
rs73013439	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73013453	0.80[AMR][1000 genomes]
rs73017249	0.81[AFR][1000 genomes]
rs73027220	0.81[AMR][1000 genomes]
rs73027271	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73976285	0.81[AMR][1000 genomes]
rs7604392	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv834456	chr2:171874210-172014659	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171830600-171902800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:171831400-171916200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:171841600-171940000	Weak transcription	Right Ventricle	heart
4	chr2:171842600-171912000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:171846200-171901000	Weak transcription	Fetal Brain Male	brain
6	chr2:171847400-171902600	Weak transcription	Brain Angular Gyrus	brain
7	chr2:171853200-171898800	Weak transcription	Aorta	Aorta
8	chr2:171862600-171918400	Weak transcription	Brain Germinal Matrix	brain
9	chr2:171862800-171899000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:171862800-171931200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:171865800-171905000	Weak transcription	Fetal Heart	heart
12	chr2:171867800-171898600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:171867800-171898800	Weak transcription	Colonic Mucosa	Colon
14	chr2:171867800-171916200	Weak transcription	Gastric	stomach
15	chr2:171874800-171916200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:171878000-171943200	Weak transcription	Small Intestine	intestine
17	chr2:171878800-171940000	Weak transcription	Stomach Mucosa	stomach
18	chr2:171881800-171899000	Strong transcription	Dnd41	blood
19	chr2:171882400-171900800	Weak transcription	NH-A	brain
20	chr2:171882600-171902200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:171883600-171916200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:171884200-171913000	Strong transcription	Liver	Liver
23	chr2:171885600-171902800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:171886000-171902200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:171887400-171903200	Strong transcription	Primary hematopoietic stem cells	blood
26	chr2:171888200-171913800	Strong transcription	HepG2	liver
27	chr2:171890400-171901400	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:171890400-171912800	Strong transcription	Placenta	Placenta
29	chr2:171890400-171917600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:171890600-171902200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:171891000-171913400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:171891400-171911600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr2:171892000-171904000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:171892000-171906600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:171892400-171899000	Weak transcription	Fetal Kidney	kidney
36	chr2:171892400-171911800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:171892400-171943400	Weak transcription	Spleen	Spleen
38	chr2:171892600-171899000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr2:171892600-171899000	Weak transcription	HUVEC	blood vessel
40	chr2:171892600-171905000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr2:171892600-171905000	Weak transcription	Brain Substantia Nigra	brain
42	chr2:171892600-171916200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:171892600-171918200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr2:171892800-171903200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:171892800-171907600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:171892800-171916200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:171892800-171918000	Weak transcription	NHLF	lung
48	chr2:171893000-171899000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:171893000-171913600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr2:171893200-171901200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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