Variant report

Variant	rs499106
Chromosome Location	chr1:172155224-172155225
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	chr1:172153958..172156265-chr1:172172390..172174263,2	K562	blood:
2	chr1:172146908..172150355-chr1:172151675..172155662,5	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10489298	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125882	0.92[ASN][1000 genomes]
rs16843944	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16843959	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16843972	0.99[ASN][1000 genomes]
rs16844095	0.82[AMR][1000 genomes]
rs1746427	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1746428	0.92[ASN][1000 genomes]
rs2209097	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2761189	0.91[ASN][1000 genomes]
rs2819529	0.93[ASN][1000 genomes]
rs473629	0.92[ASN][1000 genomes]
rs479960	0.93[ASN][1000 genomes]
rs480988	0.93[ASN][1000 genomes]
rs490006	0.84[ASN][1000 genomes]
rs491767	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs510473	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs511520	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs514864	0.82[ASN][1000 genomes]
rs515060	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs535441	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537444	0.92[ASN][1000 genomes]
rs546751	0.91[ASN][1000 genomes]
rs552191	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552399	0.92[ASN][1000 genomes]
rs554019	0.92[ASN][1000 genomes]
rs555798	0.92[ASN][1000 genomes]
rs567168	0.92[ASN][1000 genomes]
rs570742	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs572802	0.90[ASN][1000 genomes]
rs579989	0.92[ASN][1000 genomes]
rs583578	0.92[ASN][1000 genomes]
rs586745	0.90[ASN][1000 genomes]
rs589245	0.92[ASN][1000 genomes]
rs590567	0.93[ASN][1000 genomes]
rs598577	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60183508	0.81[ASN][1000 genomes]
rs608156	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs610082	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs610587	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs615091	0.91[ASN][1000 genomes]
rs61633880	0.99[ASN][1000 genomes]
rs624538	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs629316	0.92[ASN][1000 genomes]
rs629762	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs631915	0.88[ASN][1000 genomes]
rs640159	0.92[ASN][1000 genomes]
rs651032	0.93[ASN][1000 genomes]
rs6692434	0.85[AMR][1000 genomes]
rs6698237	0.85[AMR][1000 genomes]
rs676081	0.92[ASN][1000 genomes]
rs676215	0.92[ASN][1000 genomes]
rs676597	0.90[ASN][1000 genomes]
rs682215	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs683128	0.92[ASN][1000 genomes]
rs688451	0.92[ASN][1000 genomes]
rs9425500	0.88[ASN][1000 genomes]
rs9425503	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9425504	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9425505	0.92[ASN][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	nsv1000079	chr1:172146935-172230545	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172150800-172155600	Enhancers	Fetal Lung	lung
2	chr1:172150800-172159000	Enhancers	Primary B cells from peripheral blood	blood
3	chr1:172151000-172160800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:172152800-172155600	Enhancers	Ovary	ovary
5	chr1:172152800-172156000	Enhancers	Fetal Muscle Leg	muscle
6	chr1:172153200-172157800	Enhancers	Primary B cells from cord blood	blood
7	chr1:172153400-172155800	Enhancers	Fetal Stomach	stomach
8	chr1:172153600-172155400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:172153600-172155400	Enhancers	Osteobl	bone
10	chr1:172153600-172155600	Enhancers	NHDF-Ad	bronchial
11	chr1:172153800-172155400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:172153800-172155400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:172153800-172155600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:172153800-172155800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:172153800-172156200	Enhancers	Fetal Kidney	kidney
16	chr1:172154000-172155400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:172154000-172155400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:172154000-172155400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:172154000-172155400	Enhancers	A549	lung
20	chr1:172154000-172156000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr1:172154000-172161000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:172154200-172155400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr1:172154200-172155400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:172154200-172155400	Enhancers	Stomach Mucosa	stomach
25	chr1:172154200-172155600	Flanking Active TSS	GM12878-XiMat	blood
26	chr1:172154600-172155400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:172154600-172155400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr1:172154600-172155600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:172154800-172158200	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:172155000-172156000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:172155200-172155400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr1:172155200-172156200	Weak transcription	Primary T cells from cord blood	blood

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