Variant report

Variant	rs2218450
Chromosome Location	chr1:212517528-212517529
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212517528..212520387-chr1:212522119..212524431,3	K562	blood:
2	chr1:212513172..212515039-chr1:212516122..212517932,2	K562	blood:
3	chr1:212513172..212515578-chr1:212516432..212518489,2	K562	blood:
4	chr1:212507727..212512410-chr1:212514335..212517605,4	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10863961	0.92[YRI][hapmap]
rs1342151	1.00[YRI][hapmap]
rs2087588	1.00[AMR][1000 genomes]
rs56325803	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56988493	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57547209	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58961370	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6675634	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6692305	0.90[AMR][1000 genomes]
rs73082464	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73082467	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73082472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73084500	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7530292	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][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	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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	45 gene(s)	inside rSNPs	diseases
4	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212467400-212526000	Weak transcription	A549	lung
2	chr1:212479200-212525400	Weak transcription	Aorta	Aorta
3	chr1:212486200-212526000	Weak transcription	HUVEC	blood vessel
4	chr1:212489600-212554800	Weak transcription	Small Intestine	intestine
5	chr1:212493800-212533400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:212498000-212526200	Weak transcription	Fetal Brain Male	brain
7	chr1:212499800-212525400	Weak transcription	Gastric	stomach
8	chr1:212500000-212540400	Weak transcription	Stomach Mucosa	stomach
9	chr1:212501000-212533600	Weak transcription	Fetal Heart	heart
10	chr1:212501400-212525800	Weak transcription	Pancreas	Pancrea
11	chr1:212501400-212526200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:212501400-212540800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:212501800-212540800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:212502200-212526000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:212502400-212528200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:212502600-212563400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr1:212502600-212564600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr1:212502800-212541400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr1:212503000-212519200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:212504000-212548600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:212504200-212525600	Weak transcription	Spleen	Spleen
22	chr1:212504400-212537600	Weak transcription	Psoas Muscle	Psoas
23	chr1:212504800-212525800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:212504800-212526000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:212505000-212525600	Weak transcription	Colonic Mucosa	Colon
26	chr1:212505200-212531400	Weak transcription	HMEC	breast
27	chr1:212505800-212520200	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:212505800-212533200	Weak transcription	NH-A	brain
29	chr1:212506200-212518400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr1:212507400-212525400	Weak transcription	Esophagus	oesophagus
31	chr1:212507400-212525600	Weak transcription	Brain Anterior Caudate	brain
32	chr1:212507400-212526000	Weak transcription	HSMM	muscle
33	chr1:212507600-212519200	Weak transcription	K562	blood
34	chr1:212507600-212526000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:212507800-212519200	Weak transcription	NHDF-Ad	bronchial
36	chr1:212507800-212520800	Weak transcription	Ovary	ovary
37	chr1:212507800-212526000	Weak transcription	Fetal Brain Female	brain
38	chr1:212508000-212519200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr1:212508000-212519200	Weak transcription	Right Ventricle	heart
40	chr1:212508000-212519200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:212508000-212520800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:212508000-212523400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:212508000-212525600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:212508000-212525800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:212508000-212525800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:212508000-212526000	Weak transcription	Brain Substantia Nigra	brain
47	chr1:212508200-212518000	Weak transcription	Placenta	Placenta
48	chr1:212508200-212518600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr1:212508200-212519000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:212508200-212519200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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