Variant report

Variant	rs73027220
Chromosome Location	chr2:171865877-171865878
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171864172..171866391-chr2:171878160..171879817,2	K562	blood:
2	chr2:171865165..171868164-chr2:171873511..171876613,3	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10173931	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13389859	0.92[EUR][1000 genomes]
rs16859087	1.00[EUR][1000 genomes]
rs16859121	1.00[EUR][1000 genomes]
rs16859167	0.92[EUR][1000 genomes]
rs16859176	0.92[EUR][1000 genomes]
rs16859177	0.80[EUR][1000 genomes]
rs2356600	0.90[EUR][1000 genomes]
rs2356609	0.92[EUR][1000 genomes]
rs2723245	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2723248	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2723250	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2883940	0.98[EUR][1000 genomes]
rs55644524	0.90[EUR][1000 genomes]
rs55885449	0.96[EUR][1000 genomes]
rs55939429	0.92[EUR][1000 genomes]
rs55995602	0.90[EUR][1000 genomes]
rs55997598	0.90[EUR][1000 genomes]
rs56004444	0.92[EUR][1000 genomes]
rs56155163	0.92[EUR][1000 genomes]
rs56155601	0.90[EUR][1000 genomes]
rs56191582	0.98[EUR][1000 genomes]
rs56308745	0.90[EUR][1000 genomes]
rs56382502	0.92[EUR][1000 genomes]
rs56934523	0.92[EUR][1000 genomes]
rs57173242	0.81[AMR][1000 genomes]
rs57733560	0.92[EUR][1000 genomes]
rs58685348	0.90[EUR][1000 genomes]
rs59841744	0.92[EUR][1000 genomes]
rs60396936	0.92[EUR][1000 genomes]
rs6711423	0.80[EUR][1000 genomes]
rs6722196	0.92[EUR][1000 genomes]
rs6736045	0.92[EUR][1000 genomes]
rs6746133	0.96[EUR][1000 genomes]
rs6750585	0.90[EUR][1000 genomes]
rs73013435	0.92[EUR][1000 genomes]
rs73013436	0.92[EUR][1000 genomes]
rs73013439	0.92[EUR][1000 genomes]
rs73013453	0.92[EUR][1000 genomes]
rs73013465	0.80[EUR][1000 genomes]
rs73029214	0.92[EUR][1000 genomes]
rs73976125	0.80[EUR][1000 genomes]
rs73976285	0.92[EUR][1000 genomes]
rs7591214	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:125 , 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	chr2:171830800-171891400	Weak transcription	Spleen	Spleen
3	chr2:171831400-171879200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:171831400-171916200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:171840800-171879200	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:171841000-171877800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:171841000-171895800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:171841600-171940000	Weak transcription	Right Ventricle	heart
9	chr2:171842200-171892000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:171842600-171912000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:171843000-171877400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:171843200-171871800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:171844600-171868800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:171844800-171873000	Strong transcription	GM12878-XiMat	blood
15	chr2:171846000-171898000	Weak transcription	Psoas Muscle	Psoas
16	chr2:171846200-171901000	Weak transcription	Fetal Brain Male	brain
17	chr2:171847200-171871600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:171847400-171871600	Strong transcription	Dnd41	blood
19	chr2:171847400-171902600	Weak transcription	Brain Angular Gyrus	brain
20	chr2:171847600-171871800	Strong transcription	Placenta	Placenta
21	chr2:171847600-171872000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:171847600-171872000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:171847800-171878200	Weak transcription	Stomach Mucosa	stomach
24	chr2:171848000-171866400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:171848200-171869000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:171848800-171873000	Strong transcription	HepG2	liver
27	chr2:171850400-171892000	Weak transcription	Brain Anterior Caudate	brain
28	chr2:171851800-171868800	Strong transcription	Primary B cells from cord blood	blood
29	chr2:171851800-171881800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:171852200-171868800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:171852200-171871600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr2:171853200-171898800	Weak transcription	Aorta	Aorta
33	chr2:171854000-171877400	Weak transcription	NHLF	lung
34	chr2:171855200-171867400	Weak transcription	Gastric	stomach
35	chr2:171855400-171871800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr2:171857200-171871600	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:171857200-171871800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:171857800-171870600	Weak transcription	NH-A	brain
39	chr2:171858000-171867400	Weak transcription	NHEK	skin
40	chr2:171858000-171871000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:171858000-171891800	Weak transcription	Fetal Brain Female	brain
42	chr2:171858000-171892000	Weak transcription	Brain Substantia Nigra	brain
43	chr2:171859000-171871400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:171859200-171868400	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:171859400-171892000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:171859600-171871000	Weak transcription	Pancreas	Pancrea
47	chr2:171859600-171872400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:171859600-171876400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:171859600-171897000	Weak transcription	Esophagus	oesophagus
50	chr2:171859800-171868200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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