Variant report

Variant	rs17018527
Chromosome Location	chr1:212280892-212280893
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212279551..212281053-chr1:212310503..212312420,2	K562	blood:
2	chr1:212280661..212282639-chr1:212303880..212306262,2	K562	blood:
3	chr1:212276399..212277966-chr1:212279685..212282470,2	K562	blood:
4	chr1:212274779..212276284-chr1:212279736..212282088,2	K562	blood:
5	chr1:212280082..212281829-chr1:212283575..212285345,3	K562	blood:
6	chr1:212278390..212281582-chr1:212282096..212285303,4	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs17018239	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018259	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs17018260	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018263	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs17018265	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018280	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018330	0.88[YRI][hapmap]
rs17018378	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018382	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018401	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018414	0.89[YRI][hapmap]
rs17018509	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34836942	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs57157835	0.82[AFR][1000 genomes]
rs57590060	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58628059	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58894487	1.00[AMR][1000 genomes]
rs6676589	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072526	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072531	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072538	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072545	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072557	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73089293	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73089296	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73091040	1.00[AMR][1000 genomes]
rs73091041	1.00[AMR][1000 genomes]
rs73091059	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73091206	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73091209	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73091210	0.94[AFR][1000 genomes]
rs7517502	0.88[YRI][hapmap]

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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212241600-212284600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:212262000-212283000	Weak transcription	NH-A	brain
3	chr1:212262000-212284400	Weak transcription	Osteobl	bone
4	chr1:212262200-212289200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:212264400-212282400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr1:212267200-212287000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:212268600-212282800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:212271600-212287000	Weak transcription	Primary B cells from cord blood	blood
9	chr1:212272000-212281000	Weak transcription	Esophagus	oesophagus
10	chr1:212272000-212285400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:212272000-212285800	Weak transcription	Lung	lung
12	chr1:212272000-212291000	Weak transcription	Left Ventricle	heart
13	chr1:212272200-212282800	Weak transcription	Placenta	Placenta
14	chr1:212272600-212281600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:212274200-212287000	Weak transcription	HMEC	breast
16	chr1:212274200-212301600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:212274400-212282200	Weak transcription	NHEK	skin
18	chr1:212274400-212284200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:212274400-212308200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:212274600-212282400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:212274600-212283600	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:212275400-212282600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr1:212275400-212286600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:212276600-212282000	Strong transcription	K562	blood
25	chr1:212276800-212283000	Enhancers	Fetal Intestine Small	intestine
26	chr1:212277000-212298200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:212277600-212281200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr1:212277800-212283200	Weak transcription	A549	lung
29	chr1:212277800-212285000	Enhancers	Fetal Lung	lung
30	chr1:212278000-212281200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr1:212278200-212281200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr1:212278400-212282200	Weak transcription	Colonic Mucosa	Colon
33	chr1:212278800-212281000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:212278800-212282400	Weak transcription	Adipose Nuclei	Adipose
35	chr1:212278800-212284200	Weak transcription	Psoas Muscle	Psoas
36	chr1:212279000-212281200	Weak transcription	NHDF-Ad	bronchial
37	chr1:212279000-212283800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:212279000-212291800	Weak transcription	HepG2	liver
39	chr1:212279200-212281200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:212279200-212282400	Weak transcription	Fetal Stomach	stomach
41	chr1:212279200-212285600	Strong transcription	Hela-S3	cervix
42	chr1:212279400-212282400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:212279600-212281600	Genic enhancers	Dnd41	blood
44	chr1:212279600-212283200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr1:212279600-212284000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:212279800-212281200	Enhancers	Fetal Heart	heart
47	chr1:212279800-212286600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr1:212279800-212287400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr1:212280000-212281000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:212280000-212282200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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