Variant report

Variant	rs528985
Chromosome Location	chr1:185542241-185542242
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	chr1:185208758..185211044-chr1:185542238..185543760,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs11605	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs168004	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs170788	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1743273	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs186732	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs193088	0.81[AMR][1000 genomes]
rs2208600	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2756197	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2756199	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2756200	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2756201	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2756203	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2756204	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2756205	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2756206	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2756207	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2756209	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2821434	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2821435	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2821437	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2821438	0.86[EUR][1000 genomes]
rs2842580	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2842582	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2842591	0.82[AMR][1000 genomes]
rs333701	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333702	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333703	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333704	0.83[AMR][1000 genomes]
rs333705	0.83[AMR][1000 genomes]
rs333708	0.83[AFR][1000 genomes]
rs333715	0.90[EUR][1000 genomes]
rs333716	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs333717	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs333718	0.81[AMR][1000 genomes]
rs333719	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs333720	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs333721	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs333722	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs333724	0.82[AMR][1000 genomes]
rs333725	0.93[EUR][1000 genomes]
rs333727	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs333728	0.82[AMR][1000 genomes]
rs472975	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs479511	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs479559	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs480406	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs488350	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs489418	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs490389	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs491134	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs492436	0.82[AMR][1000 genomes]
rs495791	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs496413	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs498961	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500228	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs503650	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs504627	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs506478	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs507076	0.82[AMR][1000 genomes]
rs509096	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs522048	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs529183	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs529275	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs529282	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs530157	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs533136	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs534762	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs534920	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs550874	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551806	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552584	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs553280	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs553530	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs554388	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs554711	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs556035	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs558723	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs563215	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs564161	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs564265	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs567021	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs567846	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs569496	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs570476	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs571325	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs572252	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs574940	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs579458	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs693523	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs737490	0.91[AMR][1000 genomes];0.99[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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185529400-185543000	Weak transcription	Pancreas	Pancrea
2	chr1:185530800-185544000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:185534800-185543000	Weak transcription	A549	lung
4	chr1:185535000-185543400	Weak transcription	HSMMtube	muscle
5	chr1:185537200-185543000	Weak transcription	Small Intestine	intestine
6	chr1:185538600-185542800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:185538800-185542400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr1:185539000-185542400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr1:185540200-185543000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:185540400-185542800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:185540400-185543000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:185540600-185543000	Weak transcription	HMEC	breast
13	chr1:185540600-185551200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:185540800-185543000	Weak transcription	NHEK	skin
15	chr1:185541600-185542600	Weak transcription	Fetal Intestine Small	intestine
16	chr1:185542000-185543000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:185542000-185543800	Enhancers	Fetal Kidney	kidney
18	chr1:185542000-185544000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr1:185542000-185544200	Enhancers	Primary B cells from peripheral blood	blood
20	chr1:185542200-185544400	Enhancers	Fetal Intestine Large	intestine

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